Incidental Mutation 'IGL01396:Ankrd13b'
| ID |
79430 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd13b
|
| Ensembl Gene |
ENSMUSG00000037907 |
| Gene Name |
ankyrin repeat domain 13b |
| Synonyms |
B930093C12Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
IGL01396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
77361311-77380504 bp(-) (GRCm39) |
| Type of Mutation |
splice site (2771 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 77363198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021190]
[ENSMUST00000037593]
[ENSMUST00000052515]
[ENSMUST00000079770]
[ENSMUST00000092892]
[ENSMUST00000102493]
[ENSMUST00000108391]
[ENSMUST00000145934]
|
| AlphaFold |
Q5F259 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021190
|
| SMART Domains |
Protein: ENSMUSP00000021190
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 |
possibly damaging
Transcript: ENSMUST00000037593
AA Change: I528F
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
AA Change: I528F
| 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 null
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 null
Transcript: ENSMUST00000079770
|
| SMART Domains |
Protein: ENSMUSP00000078703
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 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092892
AA Change: I528F
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
AA Change: I528F
| 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 null
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 null
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 |
probably damaging
Transcript: ENSMUST00000145934
AA Change: I313F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907
AA Change: I313F
| 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: ENSMUST00000135227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127291
|
| SMART Domains |
Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,649 (GRCm39) |
Y469N |
probably benign |
Het |
| Actl11 |
T |
C |
9: 107,805,964 (GRCm39) |
S96P |
possibly damaging |
Het |
| Apobec4 |
T |
A |
1: 152,632,017 (GRCm39) |
I15K |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,090,401 (GRCm39) |
D1039E |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,498,769 (GRCm39) |
G175R |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,763,171 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
G |
A |
9: 44,418,121 (GRCm39) |
R653H |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,958,669 (GRCm39) |
I144L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,154 (GRCm39) |
T312I |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,220,848 (GRCm39) |
V1297I |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,467,792 (GRCm39) |
Y315C |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,442,044 (GRCm39) |
|
probably benign |
Het |
| Cog5 |
A |
G |
12: 31,944,095 (GRCm39) |
D660G |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,196,945 (GRCm39) |
I332T |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,103,288 (GRCm39) |
T225A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,490 (GRCm39) |
L310P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 36,977,025 (GRCm39) |
N695S |
probably damaging |
Het |
| Gas7 |
T |
A |
11: 67,543,740 (GRCm39) |
|
probably null |
Het |
| Gm21286 |
T |
C |
4: 60,794,323 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4799 |
C |
T |
10: 82,790,518 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac4 |
T |
C |
1: 91,887,196 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
T |
A |
12: 73,987,307 (GRCm39) |
S467T |
probably benign |
Het |
| Ier5 |
A |
G |
1: 154,974,296 (GRCm39) |
V294A |
probably damaging |
Het |
| Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,436,191 (GRCm39) |
|
probably benign |
Het |
| Lbx1 |
G |
T |
19: 45,222,670 (GRCm39) |
Q118K |
probably benign |
Het |
| Lta |
A |
T |
17: 35,423,061 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
G |
18: 35,721,442 (GRCm39) |
Y471C |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,178,905 (GRCm39) |
|
probably benign |
Het |
| Or4c103 |
C |
T |
2: 88,513,575 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or4k51 |
T |
C |
2: 111,584,848 (GRCm39) |
F85L |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,948 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5l13 |
G |
T |
2: 87,780,207 (GRCm39) |
F123L |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,901,247 (GRCm39) |
K299R |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,205,736 (GRCm39) |
E574G |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,843,386 (GRCm39) |
Q1858* |
probably null |
Het |
| Prkca |
T |
C |
11: 107,905,148 (GRCm39) |
K197E |
possibly damaging |
Het |
| Psmc6 |
C |
A |
14: 45,581,124 (GRCm39) |
Q307K |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,406,561 (GRCm39) |
I181V |
probably benign |
Het |
| Scel |
A |
G |
14: 103,845,530 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
T |
9: 119,363,770 (GRCm39) |
S457T |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,232,374 (GRCm39) |
T216A |
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 57,205,974 (GRCm39) |
V19A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 55,550,546 (GRCm39) |
T81A |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,866 (GRCm39) |
Y117H |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,114,196 (GRCm39) |
V569A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,195,723 (GRCm39) |
Y333C |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,068,552 (GRCm39) |
E3078G |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,360,919 (GRCm39) |
I2737N |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,346,620 (GRCm39) |
Y1272* |
probably null |
Het |
| Tnr |
G |
T |
1: 159,724,594 (GRCm39) |
R1095L |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,862 (GRCm39) |
S203P |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,301 (GRCm39) |
L370P |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,393,404 (GRCm39) |
H559R |
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 |
|
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 |
|
R1237:Ankrd13b
|
UTSW |
11 |
77,365,400 (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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation