Incidental Mutation 'R1237:Ankrd13b'
ID |
152467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd13b
|
Ensembl Gene |
ENSMUSG00000037907 |
Gene Name |
ankyrin repeat domain 13b |
Synonyms |
B930093C12Rik |
MMRRC Submission |
039304-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R1237 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77361311-77380504 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77365400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 70
(T70A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037593]
[ENSMUST00000052515]
[ENSMUST00000092892]
[ENSMUST00000102493]
[ENSMUST00000108391]
[ENSMUST00000145934]
|
AlphaFold |
Q5F259 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037593
AA Change: T285A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073584 Gene: ENSMUSG00000037907 AA Change: T285A
Domain | Start | End | E-Value | Type |
ANK
|
13 |
43 |
3.16e2 |
SMART |
ANK
|
47 |
76 |
2.85e-5 |
SMART |
ANK
|
80 |
109 |
1.17e2 |
SMART |
Pfam:GPCR_chapero_1
|
163 |
491 |
5.5e-111 |
PFAM |
UIM
|
503 |
522 |
1.81e-1 |
SMART |
low complexity region
|
552 |
580 |
N/A |
INTRINSIC |
UIM
|
585 |
604 |
3.15e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052515
|
SMART Domains |
Protein: ENSMUSP00000056862 Gene: ENSMUSG00000020836
Domain | Start | End | E-Value | Type |
DUF1899
|
4 |
68 |
7.45e-34 |
SMART |
WD40
|
67 |
110 |
2.1e-7 |
SMART |
WD40
|
120 |
160 |
2.07e-6 |
SMART |
WD40
|
163 |
203 |
2.73e-6 |
SMART |
DUF1900
|
217 |
351 |
1.19e-91 |
SMART |
low complexity region
|
374 |
389 |
N/A |
INTRINSIC |
coiled coil region
|
390 |
424 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092892
AA Change: T285A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090568 Gene: ENSMUSG00000037907 AA Change: T285A
Domain | Start | End | E-Value | Type |
ANK
|
13 |
43 |
3.16e2 |
SMART |
ANK
|
47 |
76 |
2.85e-5 |
SMART |
ANK
|
80 |
109 |
1.17e2 |
SMART |
Pfam:GPCR_chapero_1
|
163 |
490 |
3.2e-110 |
PFAM |
UIM
|
503 |
522 |
1.81e-1 |
SMART |
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102493
|
SMART Domains |
Protein: ENSMUSP00000099551 Gene: ENSMUSG00000020836
Domain | Start | End | E-Value | Type |
DUF1899
|
4 |
68 |
7.45e-34 |
SMART |
WD40
|
67 |
110 |
2.1e-7 |
SMART |
WD40
|
120 |
160 |
2.07e-6 |
SMART |
WD40
|
163 |
203 |
2.73e-6 |
SMART |
DUF1900
|
257 |
391 |
1.19e-91 |
SMART |
low complexity region
|
414 |
429 |
N/A |
INTRINSIC |
coiled coil region
|
430 |
463 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108391
|
SMART Domains |
Protein: ENSMUSP00000104028 Gene: ENSMUSG00000020836
Domain | Start | End | E-Value | Type |
DUF1899
|
4 |
68 |
7.45e-34 |
SMART |
WD40
|
67 |
110 |
2.1e-7 |
SMART |
WD40
|
120 |
160 |
2.07e-6 |
SMART |
WD40
|
163 |
203 |
2.73e-6 |
SMART |
DUF1900
|
257 |
391 |
1.19e-91 |
SMART |
low complexity region
|
414 |
429 |
N/A |
INTRINSIC |
coiled coil region
|
430 |
463 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000127291
AA Change: T32A
|
SMART Domains |
Protein: ENSMUSP00000118247 Gene: ENSMUSG00000037907 AA Change: T32A
Domain | Start | End | E-Value | Type |
Pfam:GPCR_chapero_1
|
1 |
120 |
9.7e-31 |
PFAM |
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
low complexity region
|
184 |
200 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135227
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145934
AA Change: T70A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119633 Gene: ENSMUSG00000037907 AA Change: T70A
Domain | Start | End | E-Value | Type |
Pfam:GPCR_chapero_1
|
2 |
276 |
9.7e-90 |
PFAM |
UIM
|
288 |
307 |
1.81e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143872
|
Meta Mutation Damage Score |
0.1283 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
T |
C |
5: 105,096,223 (GRCm39) |
T500A |
probably damaging |
Het |
Amz1 |
A |
T |
5: 140,727,039 (GRCm39) |
M1L |
probably damaging |
Het |
Angptl1 |
T |
A |
1: 156,686,154 (GRCm39) |
N413K |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Ccdc174 |
C |
T |
6: 91,867,768 (GRCm39) |
|
probably benign |
Het |
Ccnc |
T |
A |
4: 21,730,457 (GRCm39) |
F31L |
probably benign |
Het |
Celsr1 |
A |
C |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
Ddhd1 |
A |
T |
14: 45,839,107 (GRCm39) |
D65E |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,632,393 (GRCm39) |
N4504S |
probably benign |
Het |
Enthd1 |
A |
G |
15: 80,418,799 (GRCm39) |
S167P |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,497,316 (GRCm39) |
Y4267F |
probably damaging |
Het |
Hectd4 |
C |
T |
5: 121,459,570 (GRCm39) |
A813V |
possibly damaging |
Het |
Ibtk |
T |
C |
9: 85,602,801 (GRCm39) |
S735G |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,109,490 (GRCm39) |
I230V |
probably null |
Het |
Kcnh8 |
A |
T |
17: 53,200,988 (GRCm39) |
Q474L |
probably damaging |
Het |
Kcnh8 |
G |
T |
17: 53,200,989 (GRCm39) |
Q474H |
probably damaging |
Het |
Mib1 |
C |
T |
18: 10,768,149 (GRCm39) |
T466I |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,611,156 (GRCm39) |
R52S |
probably benign |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Or2l5 |
A |
C |
16: 19,334,375 (GRCm39) |
Y4D |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Prdx6b |
A |
G |
2: 80,123,520 (GRCm39) |
I110V |
probably benign |
Het |
Prf1 |
A |
C |
10: 61,139,428 (GRCm39) |
D462A |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,541,964 (GRCm39) |
D391G |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,510,639 (GRCm39) |
N1254K |
probably damaging |
Het |
Skor2 |
A |
T |
18: 76,963,827 (GRCm39) |
K924* |
probably null |
Het |
Slc22a21 |
A |
G |
11: 53,870,598 (GRCm39) |
I29T |
probably benign |
Het |
Tas2r140 |
T |
C |
6: 133,032,171 (GRCm39) |
T196A |
probably benign |
Het |
Thrap3 |
A |
G |
4: 126,073,862 (GRCm39) |
S295P |
probably benign |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Ubtd2 |
C |
T |
11: 32,466,125 (GRCm39) |
R115W |
probably damaging |
Het |
Unc93b1 |
A |
G |
19: 3,985,228 (GRCm39) |
E12G |
possibly damaging |
Het |
Vgll3 |
T |
A |
16: 65,636,459 (GRCm39) |
Y203* |
probably null |
Het |
Vmn1r212 |
G |
A |
13: 23,067,638 (GRCm39) |
Q232* |
probably null |
Het |
Vmn2r107 |
T |
A |
17: 20,576,947 (GRCm39) |
L315* |
probably null |
Het |
Vmn2r84 |
T |
A |
10: 130,223,725 (GRCm39) |
|
probably null |
Het |
Washc5 |
A |
G |
15: 59,210,757 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ankrd13b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00929:Ankrd13b
|
APN |
11 |
77,363,578 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01396:Ankrd13b
|
APN |
11 |
77,363,198 (GRCm39) |
splice site |
probably null |
|
IGL02731:Ankrd13b
|
APN |
11 |
77,367,045 (GRCm39) |
missense |
probably damaging |
0.99 |
R0310:Ankrd13b
|
UTSW |
11 |
77,363,571 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0496:Ankrd13b
|
UTSW |
11 |
77,363,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Ankrd13b
|
UTSW |
11 |
77,364,114 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0831:Ankrd13b
|
UTSW |
11 |
77,363,585 (GRCm39) |
missense |
probably damaging |
0.99 |
R1156:Ankrd13b
|
UTSW |
11 |
77,363,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R2259:Ankrd13b
|
UTSW |
11 |
77,367,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R3110:Ankrd13b
|
UTSW |
11 |
77,368,331 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3112:Ankrd13b
|
UTSW |
11 |
77,368,331 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4190:Ankrd13b
|
UTSW |
11 |
77,367,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R4471:Ankrd13b
|
UTSW |
11 |
77,367,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R4599:Ankrd13b
|
UTSW |
11 |
77,362,494 (GRCm39) |
missense |
probably benign |
|
R5253:Ankrd13b
|
UTSW |
11 |
77,364,061 (GRCm39) |
intron |
probably benign |
|
R5677:Ankrd13b
|
UTSW |
11 |
77,368,370 (GRCm39) |
missense |
probably damaging |
0.99 |
R7073:Ankrd13b
|
UTSW |
11 |
77,363,335 (GRCm39) |
missense |
probably benign |
0.39 |
R7388:Ankrd13b
|
UTSW |
11 |
77,363,583 (GRCm39) |
missense |
probably benign |
0.02 |
R7417:Ankrd13b
|
UTSW |
11 |
77,367,020 (GRCm39) |
missense |
probably damaging |
0.97 |
R7592:Ankrd13b
|
UTSW |
11 |
77,367,327 (GRCm39) |
missense |
probably benign |
0.45 |
R7596:Ankrd13b
|
UTSW |
11 |
77,363,140 (GRCm39) |
missense |
probably benign |
0.18 |
R7643:Ankrd13b
|
UTSW |
11 |
77,363,911 (GRCm39) |
missense |
probably benign |
0.01 |
R8434:Ankrd13b
|
UTSW |
11 |
77,368,552 (GRCm39) |
missense |
probably benign |
0.01 |
R8959:Ankrd13b
|
UTSW |
11 |
77,367,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R9668:Ankrd13b
|
UTSW |
11 |
77,368,594 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCTGAGCCATCCTGGCACTGG -3'
(R):5'- GGCAGAGGTCCCCTCTAAGACG -3'
Sequencing Primer
(F):5'- TTACAGCACCTGTCCTCACTTG -3'
(R):5'- acttccatactactgttcatcacc -3'
|
Posted On |
2014-01-29 |