Incidental Mutation 'R0097:Ushbp1'
| ID |
16958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ushbp1
|
| Ensembl Gene |
ENSMUSG00000034911 |
| Gene Name |
USH1 protein network component harmonin binding protein 1 |
| Synonyms |
MCC2, 2210404N08Rik |
| MMRRC Submission |
038383-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0097 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71836916-71848446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71843357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 314
(C314Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049184]
[ENSMUST00000212626]
|
| AlphaFold |
Q8R370 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049184
AA Change: C314Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: C314Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
coiled coil region
|
179 |
218 |
N/A |
INTRINSIC |
|
Pfam:MCC-bdg_PDZ
|
288 |
352 |
1.3e-29 |
PFAM |
|
Blast:HOLI
|
467 |
623 |
2e-24 |
BLAST |
|
coiled coil region
|
628 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212516
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212626
AA Change: V297M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213000
|
| Meta Mutation Damage Score |
0.5892 |
| Coding Region Coverage |
- 1x: 89.4%
- 3x: 86.4%
- 10x: 78.0%
- 20x: 64.9%
|
| Validation Efficiency |
86% (56/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,206,129 (GRCm39) |
I353K |
probably benign |
Het |
| Albfm1 |
T |
A |
5: 90,732,795 (GRCm39) |
S535R |
probably benign |
Het |
| Arfgap2 |
T |
A |
2: 91,105,160 (GRCm39) |
V422E |
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,227,113 (GRCm39) |
S105P |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,028,360 (GRCm39) |
M899K |
possibly damaging |
Het |
| Ccnd2 |
G |
A |
6: 127,123,015 (GRCm39) |
A180V |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 25,995,976 (GRCm39) |
S67P |
possibly damaging |
Het |
| Dmrta1 |
A |
T |
4: 89,577,109 (GRCm39) |
R188S |
probably benign |
Het |
| Eml3 |
T |
A |
19: 8,914,015 (GRCm39) |
F465L |
probably benign |
Het |
| Gm9938 |
T |
A |
19: 23,701,828 (GRCm39) |
|
probably benign |
Het |
| Gpr87 |
G |
A |
3: 59,086,506 (GRCm39) |
T333I |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,572,533 (GRCm39) |
E41G |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,649,317 (GRCm39) |
L1007Q |
possibly damaging |
Het |
| Mtfr2 |
T |
A |
10: 20,224,122 (GRCm39) |
S19T |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,393,198 (GRCm39) |
M3121K |
probably damaging |
Het |
| Myocd |
T |
A |
11: 65,069,840 (GRCm39) |
M667L |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,094,906 (GRCm39) |
N4882S |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,882,021 (GRCm38) |
|
probably benign |
Het |
| Neu2 |
A |
G |
1: 87,525,188 (GRCm39) |
D391G |
probably benign |
Het |
| Nol4 |
C |
A |
18: 22,852,198 (GRCm39) |
A456S |
probably benign |
Het |
| Or5m13 |
T |
C |
2: 85,749,184 (GRCm39) |
V305A |
probably benign |
Het |
| Padi6 |
C |
T |
4: 140,458,268 (GRCm39) |
V513M |
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,266,434 (GRCm39) |
L8S |
possibly damaging |
Het |
| Rab5b |
A |
T |
10: 128,518,809 (GRCm39) |
F108I |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,630,400 (GRCm39) |
D2157G |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,613,376 (GRCm39) |
D206G |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,353,978 (GRCm39) |
I182N |
probably damaging |
Het |
| Slc3a1 |
A |
T |
17: 85,340,288 (GRCm39) |
I237F |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,489,814 (GRCm39) |
L8P |
probably damaging |
Het |
| T |
A |
T |
17: 8,658,733 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,542,133 (GRCm39) |
D1882V |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,403,451 (GRCm39) |
L283* |
probably null |
Het |
| Ubp1 |
T |
C |
9: 113,802,575 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,189,374 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,625 (GRCm39) |
M298V |
probably benign |
Het |
| Zmpste24 |
A |
T |
4: 120,952,740 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ushbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01796:Ushbp1
|
APN |
8 |
71,840,076 (GRCm39) |
missense |
probably benign |
|
|
IGL02511:Ushbp1
|
APN |
8 |
71,843,581 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL02586:Ushbp1
|
APN |
8 |
71,841,394 (GRCm39) |
splice site |
probably benign |
|
|
IGL02929:Ushbp1
|
APN |
8 |
71,847,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03127:Ushbp1
|
APN |
8 |
71,847,020 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0012:Ushbp1
|
UTSW |
8 |
71,847,684 (GRCm39) |
unclassified |
probably benign |
|
|
R0012:Ushbp1
|
UTSW |
8 |
71,847,684 (GRCm39) |
unclassified |
probably benign |
|
|
R0091:Ushbp1
|
UTSW |
8 |
71,841,614 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0097:Ushbp1
|
UTSW |
8 |
71,843,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0242:Ushbp1
|
UTSW |
8 |
71,842,762 (GRCm39) |
nonsense |
probably null |
|
|
R0242:Ushbp1
|
UTSW |
8 |
71,842,762 (GRCm39) |
nonsense |
probably null |
|
|
R0276:Ushbp1
|
UTSW |
8 |
71,847,293 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0308:Ushbp1
|
UTSW |
8 |
71,843,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0471:Ushbp1
|
UTSW |
8 |
71,847,021 (GRCm39) |
nonsense |
probably null |
|
|
R0726:Ushbp1
|
UTSW |
8 |
71,841,391 (GRCm39) |
splice site |
probably benign |
|
|
R0894:Ushbp1
|
UTSW |
8 |
71,842,868 (GRCm39) |
splice site |
probably null |
|
|
R1451:Ushbp1
|
UTSW |
8 |
71,838,663 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1797:Ushbp1
|
UTSW |
8 |
71,841,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2393:Ushbp1
|
UTSW |
8 |
71,847,132 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2905:Ushbp1
|
UTSW |
8 |
71,840,179 (GRCm39) |
nonsense |
probably null |
|
|
R4567:Ushbp1
|
UTSW |
8 |
71,838,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4717:Ushbp1
|
UTSW |
8 |
71,838,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4977:Ushbp1
|
UTSW |
8 |
71,847,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5151:Ushbp1
|
UTSW |
8 |
71,847,799 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5584:Ushbp1
|
UTSW |
8 |
71,843,623 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5760:Ushbp1
|
UTSW |
8 |
71,840,012 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5769:Ushbp1
|
UTSW |
8 |
71,838,863 (GRCm39) |
missense |
probably benign |
|
|
R6186:Ushbp1
|
UTSW |
8 |
71,843,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6661:Ushbp1
|
UTSW |
8 |
71,843,305 (GRCm39) |
missense |
unknown |
|
|
R7172:Ushbp1
|
UTSW |
8 |
71,841,410 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7252:Ushbp1
|
UTSW |
8 |
71,847,246 (GRCm39) |
missense |
probably benign |
|
|
R7352:Ushbp1
|
UTSW |
8 |
71,841,525 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7650:Ushbp1
|
UTSW |
8 |
71,843,568 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7891:Ushbp1
|
UTSW |
8 |
71,841,422 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8491:Ushbp1
|
UTSW |
8 |
71,845,041 (GRCm39) |
missense |
probably benign |
|
|
R9126:Ushbp1
|
UTSW |
8 |
71,843,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9189:Ushbp1
|
UTSW |
8 |
71,841,539 (GRCm39) |
missense |
probably benign |
|
|
R9680:Ushbp1
|
UTSW |
8 |
71,838,573 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9770:Ushbp1
|
UTSW |
8 |
71,838,868 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Ushbp1
|
UTSW |
8 |
71,843,333 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ushbp1
|
UTSW |
8 |
71,847,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-01-20 |
Incidental Mutation