Incidental Mutation 'R1156:Ankrd13b'
| ID |
101736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd13b
|
| Ensembl Gene |
ENSMUSG00000037907 |
| Gene Name |
ankyrin repeat domain 13b |
| Synonyms |
B930093C12Rik |
| MMRRC Submission |
039229-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R1156 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77361311-77380504 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 77363687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 425
(H425Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090568
(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 damaging
Transcript: ENSMUST00000037593
AA Change: H425Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
AA Change: H425Q
| 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 damaging
Transcript: ENSMUST00000092892
AA Change: H425Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
AA Change: H425Q
| 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 |
possibly damaging
Transcript: ENSMUST00000145934
AA Change: H210Q
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907
AA Change: H210Q
| 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 |
unknown
Transcript: ENSMUST00000127291
AA Change: T183K
|
| SMART Domains |
Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907
AA Change: T183K
| 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 |
noncoding transcript
Transcript: ENSMUST00000143872
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.2%
- 10x: 94.8%
- 20x: 86.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
T |
C |
1: 38,243,991 (GRCm39) |
T927A |
probably benign |
Het |
| Ano7 |
C |
A |
1: 93,329,574 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,845,816 (GRCm39) |
L1000P |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,725,703 (GRCm39) |
D719G |
probably damaging |
Het |
| Ehbp1l1 |
G |
T |
19: 5,758,364 (GRCm39) |
|
probably benign |
Het |
| Eml3 |
A |
G |
19: 8,911,494 (GRCm39) |
T326A |
probably damaging |
Het |
| Exoc6 |
T |
A |
19: 37,671,345 (GRCm39) |
N778K |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,492,927 (GRCm39) |
R3883H |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,356,593 (GRCm39) |
V344D |
probably damaging |
Het |
| Khdrbs2 |
C |
A |
1: 32,506,956 (GRCm39) |
T200K |
probably benign |
Het |
| Mtap |
A |
T |
4: 89,089,459 (GRCm39) |
T148S |
probably benign |
Het |
| Nos3 |
T |
C |
5: 24,582,617 (GRCm39) |
V615A |
probably benign |
Het |
| Nudt9 |
G |
A |
5: 104,198,596 (GRCm39) |
W37* |
probably null |
Het |
| Obp2a |
A |
G |
2: 25,591,604 (GRCm39) |
K108R |
possibly damaging |
Het |
| Or14j3 |
T |
A |
17: 37,900,408 (GRCm39) |
T279S |
possibly damaging |
Het |
| Sec23a |
A |
T |
12: 59,048,622 (GRCm39) |
S167T |
probably benign |
Het |
| Strn |
A |
G |
17: 78,964,360 (GRCm39) |
I535T |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,804,747 (GRCm39) |
T206M |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,614,451 (GRCm39) |
C1111R |
probably damaging |
Het |
| Zfp831 |
C |
A |
2: 174,488,710 (GRCm39) |
H1128Q |
possibly damaging |
Het |
| Zup1 |
T |
C |
10: 33,825,222 (GRCm39) |
T87A |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation