Incidental Mutation 'R0012:Ushbp1'
ID |
19116 |
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 |
038307-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0012 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
71836916-71848446 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 71847684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002473]
[ENSMUST00000049184]
[ENSMUST00000212626]
|
AlphaFold |
Q8R370 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002473
|
SMART Domains |
Protein: ENSMUSP00000002473 Gene: ENSMUSG00000031820
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
low complexity region
|
321 |
331 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049184
|
SMART Domains |
Protein: ENSMUSP00000045668 Gene: ENSMUSG00000034911
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: ENSMUST00000212516
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212769
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213093
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 78.7%
- 3x: 69.0%
- 10x: 44.7%
- 20x: 26.0%
|
Validation Efficiency |
91% (95/104) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap1 |
A |
G |
5: 139,293,489 (GRCm39) |
|
probably benign |
Het |
Bnip3 |
A |
G |
7: 138,500,401 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
A |
C |
16: 95,860,852 (GRCm39) |
S311R |
probably damaging |
Het |
C2cd3 |
G |
A |
7: 100,067,729 (GRCm39) |
V871M |
possibly damaging |
Het |
Chd2 |
G |
T |
7: 73,105,267 (GRCm39) |
T192K |
probably damaging |
Het |
Chrna10 |
T |
C |
7: 101,764,264 (GRCm39) |
N40S |
possibly damaging |
Het |
Copb1 |
T |
A |
7: 113,836,643 (GRCm39) |
K366N |
probably damaging |
Het |
Dpysl4 |
T |
G |
7: 138,677,799 (GRCm39) |
I412S |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,153,697 (GRCm39) |
V3505A |
probably benign |
Het |
Fbxo24 |
A |
G |
5: 137,620,256 (GRCm39) |
F101S |
probably damaging |
Het |
Gcnt3 |
T |
C |
9: 69,941,367 (GRCm39) |
I400M |
probably benign |
Het |
Gm2962 |
T |
A |
1: 170,752,908 (GRCm39) |
|
probably benign |
Het |
Gsap |
T |
A |
5: 21,431,227 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
A |
G |
3: 103,670,996 (GRCm39) |
M467T |
probably damaging |
Het |
Hmgb4 |
T |
A |
4: 128,154,518 (GRCm39) |
I17F |
probably damaging |
Het |
Ints15 |
A |
G |
5: 143,299,937 (GRCm39) |
L137P |
probably damaging |
Het |
Kif17 |
T |
G |
4: 138,021,059 (GRCm39) |
S606A |
probably damaging |
Het |
Lypd4 |
A |
G |
7: 24,564,757 (GRCm39) |
L127P |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,862,279 (GRCm39) |
H2605R |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,457,076 (GRCm39) |
S1289P |
probably damaging |
Het |
Mob1b |
G |
A |
5: 88,903,943 (GRCm39) |
|
probably benign |
Het |
Mthfd2l |
A |
T |
5: 91,109,242 (GRCm39) |
H224L |
probably damaging |
Het |
Nectin2 |
T |
C |
7: 19,464,669 (GRCm39) |
|
probably benign |
Het |
Rae1 |
T |
A |
2: 172,844,466 (GRCm39) |
F4I |
unknown |
Het |
Ralgapa2 |
A |
G |
2: 146,254,672 (GRCm39) |
Y821H |
probably benign |
Het |
Sharpin |
G |
T |
15: 76,232,543 (GRCm39) |
P156T |
possibly damaging |
Het |
Slc38a4 |
C |
T |
15: 96,897,510 (GRCm39) |
R435H |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,070,469 (GRCm39) |
V1061A |
probably benign |
Het |
Suclg1 |
A |
G |
6: 73,247,980 (GRCm39) |
T234A |
possibly damaging |
Het |
Tet2 |
T |
C |
3: 133,182,319 (GRCm39) |
Y1215C |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,979,523 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
T |
C |
6: 29,589,176 (GRCm39) |
E58G |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,272,283 (GRCm39) |
M464K |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,918,339 (GRCm39) |
S560G |
possibly damaging |
Het |
Unc80 |
T |
C |
1: 66,546,550 (GRCm39) |
S541P |
probably damaging |
Het |
Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
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 |
|
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 |
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 |
2013-03-25 |