Incidental Mutation 'IGL00929:Ankrd13b'
| ID |
28535 |
| 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 # |
IGL00929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
77361311-77380504 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77363578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 247
(S247P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021190]
[ENSMUST00000037593]
[ENSMUST00000052515]
[ENSMUST00000079770]
[ENSMUST00000092892]
[ENSMUST00000102493]
[ENSMUST00000108391]
[ENSMUST00000145934]
|
| AlphaFold |
Q5F259 |
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000037593
AA Change: S462P
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
AA Change: S462P
| 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 benign
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 |
probably benign
Transcript: ENSMUST00000092892
AA Change: S462P
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
AA Change: S462P
| 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 |
probably damaging
Transcript: ENSMUST00000145934
AA Change: S247P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907
AA Change: S247P
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
A |
T |
12: 30,954,899 (GRCm39) |
H67Q |
probably damaging |
Het |
| Aqp4 |
C |
T |
18: 15,526,656 (GRCm39) |
G275E |
probably benign |
Het |
| Arhgef15 |
A |
T |
11: 68,844,928 (GRCm39) |
L223Q |
probably damaging |
Het |
| Asb13 |
A |
G |
13: 3,699,427 (GRCm39) |
Y209C |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,046,257 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
G |
A |
1: 115,988,004 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,159,648 (GRCm39) |
M1V |
probably null |
Het |
| Dab2ip |
A |
T |
2: 35,598,889 (GRCm39) |
M137L |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Lemd1 |
A |
G |
1: 132,184,447 (GRCm39) |
D73G |
probably benign |
Het |
| Lpin1 |
G |
A |
12: 16,623,700 (GRCm39) |
S228L |
probably benign |
Het |
| Mtcl3 |
C |
A |
10: 29,024,288 (GRCm39) |
N401K |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,780,946 (GRCm39) |
L48P |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,893,529 (GRCm39) |
|
probably null |
Het |
| Ndc1 |
T |
A |
4: 107,246,694 (GRCm39) |
N372K |
probably benign |
Het |
| Ndufa2 |
A |
G |
18: 36,877,228 (GRCm39) |
|
probably benign |
Het |
| Nmt1 |
A |
T |
11: 102,950,902 (GRCm39) |
|
probably null |
Het |
| Or52s1 |
A |
T |
7: 102,861,892 (GRCm39) |
H264L |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,758 (GRCm39) |
Y489H |
probably damaging |
Het |
| Rttn |
A |
T |
18: 89,047,059 (GRCm39) |
K907M |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,716,025 (GRCm39) |
Y979C |
probably damaging |
Het |
| Spag6l |
C |
T |
16: 16,584,877 (GRCm39) |
A424T |
possibly damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,233 (GRCm39) |
I266N |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,637 (GRCm39) |
L1600P |
probably benign |
Het |
| Tiam1 |
T |
A |
16: 89,591,627 (GRCm39) |
I1358F |
probably damaging |
Het |
| Usp37 |
G |
T |
1: 74,529,313 (GRCm39) |
T122N |
probably benign |
Het |
| Vit |
T |
C |
17: 78,886,830 (GRCm39) |
S153P |
probably damaging |
Het |
|
| Other mutations in Ankrd13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation