Incidental Mutation 'R0281:Ankrd11'
| ID |
37531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd11
|
| Ensembl Gene |
ENSMUSG00000035569 |
| Gene Name |
ankyrin repeat domain 11 |
| Synonyms |
3010027A04Rik, Yod, 2410104C19Rik, 9530048I21Rik |
| MMRRC Submission |
038503-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0281 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122883822-123042277 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122895568 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 515
(D515G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098333]
[ENSMUST00000098334]
[ENSMUST00000127664]
[ENSMUST00000172906]
|
| AlphaFold |
E9Q4F7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098333
AA Change: D515G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000095938
Gene: ENSMUSG00000035569
AA Change: D515G
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
188 |
217 |
2.58e-3 |
SMART |
|
ANK
|
221 |
250 |
1.31e-4 |
SMART |
|
ANK
|
254 |
283 |
5.04e-6 |
SMART |
|
low complexity region
|
311 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
669 |
N/A |
INTRINSIC |
|
coiled coil region
|
786 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
877 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1040 |
1055 |
N/A |
INTRINSIC |
|
low complexity region
|
1058 |
1082 |
N/A |
INTRINSIC |
|
low complexity region
|
1187 |
1200 |
N/A |
INTRINSIC |
|
low complexity region
|
1204 |
1227 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1289 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1306 |
N/A |
INTRINSIC |
|
coiled coil region
|
1374 |
1406 |
N/A |
INTRINSIC |
|
low complexity region
|
1476 |
1496 |
N/A |
INTRINSIC |
|
low complexity region
|
1508 |
1523 |
N/A |
INTRINSIC |
|
low complexity region
|
1526 |
1547 |
N/A |
INTRINSIC |
|
coiled coil region
|
1598 |
1625 |
N/A |
INTRINSIC |
|
low complexity region
|
1770 |
1781 |
N/A |
INTRINSIC |
|
low complexity region
|
1874 |
1885 |
N/A |
INTRINSIC |
|
low complexity region
|
1913 |
1922 |
N/A |
INTRINSIC |
|
low complexity region
|
1969 |
1979 |
N/A |
INTRINSIC |
|
low complexity region
|
2035 |
2045 |
N/A |
INTRINSIC |
|
low complexity region
|
2057 |
2071 |
N/A |
INTRINSIC |
|
low complexity region
|
2162 |
2179 |
N/A |
INTRINSIC |
|
low complexity region
|
2191 |
2209 |
N/A |
INTRINSIC |
|
low complexity region
|
2224 |
2236 |
N/A |
INTRINSIC |
|
low complexity region
|
2250 |
2263 |
N/A |
INTRINSIC |
|
low complexity region
|
2294 |
2305 |
N/A |
INTRINSIC |
|
low complexity region
|
2391 |
2409 |
N/A |
INTRINSIC |
|
low complexity region
|
2445 |
2455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098334
AA Change: D494G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095939
Gene: ENSMUSG00000035569
AA Change: D494G
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
167 |
196 |
2.58e-3 |
SMART |
|
ANK
|
200 |
229 |
1.31e-4 |
SMART |
|
ANK
|
233 |
262 |
5.04e-6 |
SMART |
|
low complexity region
|
290 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
648 |
N/A |
INTRINSIC |
|
coiled coil region
|
765 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
963 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1034 |
N/A |
INTRINSIC |
|
low complexity region
|
1037 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1166 |
1179 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1206 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1268 |
N/A |
INTRINSIC |
|
low complexity region
|
1273 |
1285 |
N/A |
INTRINSIC |
|
coiled coil region
|
1353 |
1385 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1475 |
N/A |
INTRINSIC |
|
low complexity region
|
1487 |
1502 |
N/A |
INTRINSIC |
|
low complexity region
|
1505 |
1526 |
N/A |
INTRINSIC |
|
coiled coil region
|
1577 |
1604 |
N/A |
INTRINSIC |
|
low complexity region
|
1749 |
1760 |
N/A |
INTRINSIC |
|
low complexity region
|
1853 |
1864 |
N/A |
INTRINSIC |
|
low complexity region
|
1892 |
1901 |
N/A |
INTRINSIC |
|
low complexity region
|
1948 |
1958 |
N/A |
INTRINSIC |
|
low complexity region
|
2014 |
2024 |
N/A |
INTRINSIC |
|
low complexity region
|
2036 |
2050 |
N/A |
INTRINSIC |
|
low complexity region
|
2141 |
2158 |
N/A |
INTRINSIC |
|
low complexity region
|
2170 |
2188 |
N/A |
INTRINSIC |
|
low complexity region
|
2203 |
2215 |
N/A |
INTRINSIC |
|
low complexity region
|
2229 |
2242 |
N/A |
INTRINSIC |
|
low complexity region
|
2273 |
2284 |
N/A |
INTRINSIC |
|
low complexity region
|
2370 |
2388 |
N/A |
INTRINSIC |
|
low complexity region
|
2424 |
2434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211940
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212728
|
| Meta Mutation Damage Score |
0.0640 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
98% (104/106) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061G19Rik |
T |
A |
17: 56,885,169 (GRCm38) |
Y577* |
probably null |
Het |
| 2610507B11Rik |
C |
T |
11: 78,271,924 (GRCm38) |
L871F |
possibly damaging |
Het |
| 4933430I17Rik |
A |
T |
4: 62,546,067 (GRCm38) |
R374* |
probably null |
Het |
| 5930422O12Rik |
A |
T |
8: 33,429,379 (GRCm38) |
R76* |
probably null |
Het |
| A1cf |
G |
A |
19: 31,945,814 (GRCm38) |
A505T |
probably benign |
Het |
| Abcc5 |
T |
A |
16: 20,422,400 (GRCm38) |
I12F |
probably damaging |
Het |
| Abcf2 |
T |
C |
5: 24,566,564 (GRCm38) |
E555G |
probably damaging |
Het |
| Acan |
A |
T |
7: 79,100,285 (GRCm38) |
E1601D |
probably damaging |
Het |
| Adam2 |
T |
A |
14: 66,037,606 (GRCm38) |
K559N |
probably benign |
Het |
| Akap11 |
A |
C |
14: 78,510,089 (GRCm38) |
D1619E |
possibly damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,619,371 (GRCm38) |
N562K |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,153,304 (GRCm38) |
I119T |
probably benign |
Het |
| Atr |
T |
C |
9: 95,937,566 (GRCm38) |
I2202T |
probably benign |
Het |
| BC067074 |
A |
T |
13: 113,369,143 (GRCm38) |
I727F |
probably damaging |
Het |
| Brd4 |
T |
A |
17: 32,213,540 (GRCm38) |
|
probably benign |
Het |
| Catsperg2 |
C |
T |
7: 29,706,571 (GRCm38) |
C634Y |
possibly damaging |
Het |
| Cep192 |
A |
G |
18: 67,828,482 (GRCm38) |
|
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,927,071 (GRCm38) |
I366F |
probably damaging |
Het |
| Cnga4 |
G |
T |
7: 105,407,668 (GRCm38) |
R326L |
probably damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,072,153 (GRCm38) |
M212K |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,784,116 (GRCm38) |
M265L |
probably benign |
Het |
| Cyp26b1 |
A |
T |
6: 84,574,556 (GRCm38) |
F417Y |
probably damaging |
Het |
| Dhx15 |
A |
T |
5: 52,150,746 (GRCm38) |
M768K |
probably benign |
Het |
| Drc7 |
G |
A |
8: 95,071,253 (GRCm38) |
R433H |
possibly damaging |
Het |
| Duox2 |
C |
T |
2: 122,292,304 (GRCm38) |
V550M |
probably benign |
Het |
| Elmo2 |
A |
G |
2: 165,296,890 (GRCm38) |
L456P |
probably damaging |
Het |
| Fbxo39 |
T |
C |
11: 72,317,530 (GRCm38) |
I236T |
probably benign |
Het |
| Fezf2 |
A |
G |
14: 12,343,977 (GRCm38) |
C305R |
probably damaging |
Het |
| Fndc3b |
C |
A |
3: 27,457,006 (GRCm38) |
C785F |
probably benign |
Het |
| Gm12253 |
T |
C |
11: 58,440,012 (GRCm38) |
|
probably benign |
Het |
| Gnat2 |
T |
A |
3: 108,095,562 (GRCm38) |
Y95* |
probably null |
Het |
| Gopc |
T |
C |
10: 52,350,678 (GRCm38) |
K220E |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,254,251 (GRCm38) |
D193N |
possibly damaging |
Het |
| Hexa |
G |
A |
9: 59,554,226 (GRCm38) |
|
probably null |
Het |
| Hspa4l |
T |
C |
3: 40,785,408 (GRCm38) |
|
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,774,320 (GRCm38) |
S301P |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,604,047 (GRCm38) |
S1307T |
possibly damaging |
Het |
| Igtp |
T |
C |
11: 58,206,054 (GRCm38) |
L17P |
probably damaging |
Het |
| Itk |
T |
C |
11: 46,353,916 (GRCm38) |
Y225C |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,103,460 (GRCm38) |
V560A |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 67,817,569 (GRCm38) |
N2875D |
probably damaging |
Het |
| Lasp1 |
C |
A |
11: 97,806,851 (GRCm38) |
C32* |
probably null |
Het |
| Lcp2 |
T |
A |
11: 34,069,854 (GRCm38) |
|
probably benign |
Het |
| Lhx9 |
C |
T |
1: 138,832,904 (GRCm38) |
G236D |
probably benign |
Het |
| Lrrc38 |
A |
T |
4: 143,350,409 (GRCm38) |
I81F |
probably damaging |
Het |
| Ly6a |
C |
T |
15: 74,995,387 (GRCm38) |
V94M |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,914,157 (GRCm38) |
E503G |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,782,621 (GRCm38) |
|
probably benign |
Het |
| Mkl2 |
T |
A |
16: 13,412,163 (GRCm38) |
I915N |
probably damaging |
Het |
| Msantd2 |
G |
A |
9: 37,523,219 (GRCm38) |
D252N |
possibly damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,257,706 (GRCm38) |
L290* |
probably null |
Het |
| Myo3a |
T |
C |
2: 22,245,598 (GRCm38) |
I92T |
probably benign |
Het |
| Naglu |
T |
A |
11: 101,074,027 (GRCm38) |
N313K |
probably damaging |
Het |
| Nceh1 |
T |
C |
3: 27,222,804 (GRCm38) |
V92A |
possibly damaging |
Het |
| Ncf4 |
A |
G |
15: 78,250,883 (GRCm38) |
T47A |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 128,460,683 (GRCm38) |
F403L |
probably damaging |
Het |
| Nxph3 |
T |
C |
11: 95,511,256 (GRCm38) |
T111A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 59,038,615 (GRCm38) |
E6061V |
probably damaging |
Het |
| Obsl1 |
C |
A |
1: 75,492,927 (GRCm38) |
G1149W |
probably damaging |
Het |
| Olfr1162 |
C |
T |
2: 88,050,412 (GRCm38) |
V71I |
possibly damaging |
Het |
| Olfr1370 |
T |
A |
13: 21,072,374 (GRCm38) |
Y309F |
probably benign |
Het |
| Olfr1487 |
A |
G |
19: 13,619,485 (GRCm38) |
T65A |
probably benign |
Het |
| Olfr267 |
A |
T |
4: 58,784,981 (GRCm38) |
V247E |
probably damaging |
Het |
| Olfr292 |
A |
G |
7: 86,694,860 (GRCm38) |
T135A |
probably benign |
Het |
| Olfr493 |
A |
C |
7: 108,346,914 (GRCm38) |
D22E |
probably benign |
Het |
| Olfr814 |
T |
A |
10: 129,874,546 (GRCm38) |
L70F |
possibly damaging |
Het |
| Pde9a |
T |
C |
17: 31,455,106 (GRCm38) |
V55A |
probably damaging |
Het |
| Pip4k2c |
A |
T |
10: 127,205,821 (GRCm38) |
|
probably null |
Het |
| Plvap |
T |
C |
8: 71,511,382 (GRCm38) |
N112S |
probably damaging |
Het |
| Pop1 |
T |
A |
15: 34,529,858 (GRCm38) |
|
probably null |
Het |
| Ppip5k2 |
T |
C |
1: 97,716,553 (GRCm38) |
H1113R |
possibly damaging |
Het |
| Ptprk |
A |
T |
10: 28,573,392 (GRCm38) |
I962F |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,457,042 (GRCm38) |
S322P |
possibly damaging |
Het |
| Rasal1 |
A |
G |
5: 120,674,605 (GRCm38) |
T565A |
probably benign |
Het |
| Rbm15 |
C |
A |
3: 107,331,155 (GRCm38) |
R642S |
probably damaging |
Het |
| Rpsa |
G |
A |
9: 120,131,003 (GRCm38) |
E211K |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,686,810 (GRCm38) |
S3303P |
probably damaging |
Het |
| Scg2 |
T |
A |
1: 79,435,512 (GRCm38) |
N458I |
possibly damaging |
Het |
| Setx |
A |
G |
2: 29,179,643 (GRCm38) |
T2487A |
probably benign |
Het |
| Slc4a5 |
G |
A |
6: 83,267,567 (GRCm38) |
|
probably benign |
Het |
| Slc8a2 |
T |
A |
7: 16,140,989 (GRCm38) |
D387E |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,474,722 (GRCm38) |
T407A |
probably benign |
Het |
| Snap25 |
A |
G |
2: 136,777,464 (GRCm38) |
D179G |
probably damaging |
Het |
| Socs4 |
T |
C |
14: 47,289,868 (GRCm38) |
S74P |
probably benign |
Het |
| Sp6 |
T |
A |
11: 97,021,925 (GRCm38) |
Y155N |
probably benign |
Het |
| Srrt |
C |
T |
5: 137,296,127 (GRCm38) |
|
probably benign |
Het |
| Steap1 |
C |
T |
5: 5,736,431 (GRCm38) |
M335I |
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,145,489 (GRCm38) |
Y250F |
probably benign |
Het |
| Svil |
T |
C |
18: 5,094,582 (GRCm38) |
S1421P |
probably damaging |
Het |
| Tcea3 |
G |
A |
4: 136,271,366 (GRCm38) |
C317Y |
probably damaging |
Het |
| Tmco6 |
T |
C |
18: 36,737,704 (GRCm38) |
L117S |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,270,237 (GRCm38) |
K89E |
probably damaging |
Het |
| Trp63 |
T |
A |
16: 25,764,302 (GRCm38) |
|
probably benign |
Het |
| Ube2d2a |
A |
G |
18: 35,800,132 (GRCm38) |
Y74C |
probably damaging |
Het |
| Usp19 |
T |
G |
9: 108,498,509 (GRCm38) |
F885V |
probably damaging |
Het |
| Utp18 |
T |
A |
11: 93,882,177 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,401,413 (GRCm38) |
I707T |
possibly damaging |
Het |
| Vmn2r68 |
C |
G |
7: 85,233,258 (GRCm38) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 85,233,249 (GRCm38) |
|
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,412,614 (GRCm38) |
P1848S |
probably benign |
Het |
| Zfp984 |
G |
T |
4: 147,755,265 (GRCm38) |
N376K |
probably benign |
Het |
|
| Other mutations in Ankrd11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Ankrd11
|
APN |
8 |
122,908,728 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL00971:Ankrd11
|
APN |
8 |
122,895,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01017:Ankrd11
|
APN |
8 |
122,894,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01137:Ankrd11
|
APN |
8 |
122,884,336 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01659:Ankrd11
|
APN |
8 |
122,895,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01920:Ankrd11
|
APN |
8 |
122,915,897 (GRCm38) |
splice site |
probably benign |
|
|
IGL01964:Ankrd11
|
APN |
8 |
122,889,736 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02131:Ankrd11
|
APN |
8 |
122,894,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02226:Ankrd11
|
APN |
8 |
122,892,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02549:Ankrd11
|
APN |
8 |
122,891,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02642:Ankrd11
|
APN |
8 |
122,890,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02643:Ankrd11
|
APN |
8 |
122,892,322 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02861:Ankrd11
|
APN |
8 |
122,895,827 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03086:Ankrd11
|
APN |
8 |
122,894,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03336:Ankrd11
|
APN |
8 |
122,891,843 (GRCm38) |
missense |
probably benign |
0.00 |
|
anchors
|
UTSW |
8 |
122,895,770 (GRCm38) |
missense |
probably damaging |
0.99 |
|
away
|
UTSW |
8 |
122,891,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
bluebell
|
UTSW |
8 |
122,891,785 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Navy
|
UTSW |
8 |
122,908,734 (GRCm38) |
nonsense |
probably null |
|
|
BB001:Ankrd11
|
UTSW |
8 |
122,895,902 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
BB011:Ankrd11
|
UTSW |
8 |
122,895,902 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0051:Ankrd11
|
UTSW |
8 |
122,889,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0051:Ankrd11
|
UTSW |
8 |
122,889,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0110:Ankrd11
|
UTSW |
8 |
122,892,175 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0450:Ankrd11
|
UTSW |
8 |
122,892,175 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0481:Ankrd11
|
UTSW |
8 |
122,900,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0542:Ankrd11
|
UTSW |
8 |
122,895,770 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0606:Ankrd11
|
UTSW |
8 |
122,892,832 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0702:Ankrd11
|
UTSW |
8 |
122,889,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0730:Ankrd11
|
UTSW |
8 |
122,891,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0737:Ankrd11
|
UTSW |
8 |
122,895,836 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1401:Ankrd11
|
UTSW |
8 |
122,893,050 (GRCm38) |
missense |
probably benign |
0.23 |
|
R1464:Ankrd11
|
UTSW |
8 |
122,892,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1464:Ankrd11
|
UTSW |
8 |
122,892,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1470:Ankrd11
|
UTSW |
8 |
122,899,724 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1470:Ankrd11
|
UTSW |
8 |
122,899,724 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1641:Ankrd11
|
UTSW |
8 |
122,891,746 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1950:Ankrd11
|
UTSW |
8 |
122,889,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2004:Ankrd11
|
UTSW |
8 |
122,902,422 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2401:Ankrd11
|
UTSW |
8 |
122,908,734 (GRCm38) |
nonsense |
probably null |
|
|
R2425:Ankrd11
|
UTSW |
8 |
122,893,163 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2830:Ankrd11
|
UTSW |
8 |
122,892,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2910:Ankrd11
|
UTSW |
8 |
122,908,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2911:Ankrd11
|
UTSW |
8 |
122,908,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3736:Ankrd11
|
UTSW |
8 |
122,891,785 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3738:Ankrd11
|
UTSW |
8 |
122,896,715 (GRCm38) |
unclassified |
probably benign |
|
|
R3739:Ankrd11
|
UTSW |
8 |
122,896,715 (GRCm38) |
unclassified |
probably benign |
|
|
R3813:Ankrd11
|
UTSW |
8 |
122,891,378 (GRCm38) |
missense |
probably benign |
|
|
R4012:Ankrd11
|
UTSW |
8 |
122,892,417 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4183:Ankrd11
|
UTSW |
8 |
122,899,676 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4213:Ankrd11
|
UTSW |
8 |
122,891,026 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4469:Ankrd11
|
UTSW |
8 |
122,896,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4482:Ankrd11
|
UTSW |
8 |
122,893,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4935:Ankrd11
|
UTSW |
8 |
122,900,183 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4940:Ankrd11
|
UTSW |
8 |
122,889,821 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5145:Ankrd11
|
UTSW |
8 |
122,891,204 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5154:Ankrd11
|
UTSW |
8 |
122,893,139 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5230:Ankrd11
|
UTSW |
8 |
122,890,477 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5283:Ankrd11
|
UTSW |
8 |
122,884,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5377:Ankrd11
|
UTSW |
8 |
122,893,714 (GRCm38) |
splice site |
probably null |
|
|
R5513:Ankrd11
|
UTSW |
8 |
122,892,520 (GRCm38) |
missense |
probably benign |
0.38 |
|
R5518:Ankrd11
|
UTSW |
8 |
122,890,994 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5549:Ankrd11
|
UTSW |
8 |
122,890,378 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5579:Ankrd11
|
UTSW |
8 |
122,884,231 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5595:Ankrd11
|
UTSW |
8 |
122,894,304 (GRCm38) |
nonsense |
probably null |
|
|
R5650:Ankrd11
|
UTSW |
8 |
122,887,397 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5717:Ankrd11
|
UTSW |
8 |
122,892,638 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5753:Ankrd11
|
UTSW |
8 |
122,895,304 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5782:Ankrd11
|
UTSW |
8 |
122,900,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5812:Ankrd11
|
UTSW |
8 |
122,893,805 (GRCm38) |
splice site |
probably null |
|
|
R5823:Ankrd11
|
UTSW |
8 |
122,895,790 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5900:Ankrd11
|
UTSW |
8 |
122,891,066 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5975:Ankrd11
|
UTSW |
8 |
122,889,749 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5979:Ankrd11
|
UTSW |
8 |
122,892,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6000:Ankrd11
|
UTSW |
8 |
122,891,195 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R6145:Ankrd11
|
UTSW |
8 |
122,892,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6252:Ankrd11
|
UTSW |
8 |
122,893,822 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6302:Ankrd11
|
UTSW |
8 |
122,889,989 (GRCm38) |
missense |
probably benign |
|
|
R6457:Ankrd11
|
UTSW |
8 |
122,908,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6513:Ankrd11
|
UTSW |
8 |
122,890,180 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6582:Ankrd11
|
UTSW |
8 |
122,891,629 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6738:Ankrd11
|
UTSW |
8 |
122,891,921 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6865:Ankrd11
|
UTSW |
8 |
122,894,944 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6913:Ankrd11
|
UTSW |
8 |
122,894,911 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7101:Ankrd11
|
UTSW |
8 |
122,895,455 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7116:Ankrd11
|
UTSW |
8 |
122,896,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7477:Ankrd11
|
UTSW |
8 |
122,894,385 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7534:Ankrd11
|
UTSW |
8 |
122,894,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7555:Ankrd11
|
UTSW |
8 |
122,887,406 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7627:Ankrd11
|
UTSW |
8 |
122,890,951 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7658:Ankrd11
|
UTSW |
8 |
122,893,664 (GRCm38) |
missense |
probably benign |
|
|
R7721:Ankrd11
|
UTSW |
8 |
122,894,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7731:Ankrd11
|
UTSW |
8 |
122,895,433 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7792:Ankrd11
|
UTSW |
8 |
122,884,231 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7924:Ankrd11
|
UTSW |
8 |
122,895,902 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7939:Ankrd11
|
UTSW |
8 |
122,891,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8022:Ankrd11
|
UTSW |
8 |
122,887,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8222:Ankrd11
|
UTSW |
8 |
122,895,608 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8362:Ankrd11
|
UTSW |
8 |
122,892,058 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8430:Ankrd11
|
UTSW |
8 |
122,893,366 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8511:Ankrd11
|
UTSW |
8 |
122,899,729 (GRCm38) |
missense |
|
|
|
R8726:Ankrd11
|
UTSW |
8 |
122,894,026 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8888:Ankrd11
|
UTSW |
8 |
122,894,275 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8895:Ankrd11
|
UTSW |
8 |
122,894,275 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8928:Ankrd11
|
UTSW |
8 |
122,895,979 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8930:Ankrd11
|
UTSW |
8 |
122,895,979 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8931:Ankrd11
|
UTSW |
8 |
122,895,979 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8936:Ankrd11
|
UTSW |
8 |
122,895,101 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R9018:Ankrd11
|
UTSW |
8 |
122,895,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9113:Ankrd11
|
UTSW |
8 |
122,887,333 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R9399:Ankrd11
|
UTSW |
8 |
122,891,440 (GRCm38) |
missense |
probably benign |
|
|
R9644:Ankrd11
|
UTSW |
8 |
122,890,943 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9645:Ankrd11
|
UTSW |
8 |
122,890,943 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9647:Ankrd11
|
UTSW |
8 |
122,890,943 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9683:Ankrd11
|
UTSW |
8 |
122,890,943 (GRCm38) |
missense |
probably benign |
0.00 |
|
RF019:Ankrd11
|
UTSW |
8 |
122,896,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Ankrd11
|
UTSW |
8 |
122,895,803 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
Z1177:Ankrd11
|
UTSW |
8 |
122,900,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGTCAGTGCGCCAGTGCTTC -3'
(R):5'- ATCCTGTCAGACACATCCGACGAG -3'
Sequencing Primer
(F):5'- CAGTGCTTCGTGTGCTGG -3'
(R):5'- CACAATGCTCCCTGGTAGTAAGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation