Incidental Mutation 'IGL01796:Ushbp1'
| ID |
155353 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ushbp1
|
| Ensembl Gene |
ENSMUSG00000034911 |
| Gene Name |
USH1 protein network component harmonin binding protein 1 |
| Synonyms |
MCC2, 2210404N08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01796
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71836916-71848446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 71840076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 525
(A525E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049184]
[ENSMUST00000212626]
|
| AlphaFold |
Q8R370 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049184
AA Change: A525E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: A525E
| 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 |
probably benign
Transcript: ENSMUST00000212626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213000
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,590,273 (GRCm39) |
Y511H |
probably damaging |
Het |
| Abca7 |
T |
G |
10: 79,849,743 (GRCm39) |
Y1948D |
probably damaging |
Het |
| Adgrl2 |
C |
A |
3: 148,564,611 (GRCm39) |
G319V |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,715,461 (GRCm39) |
D909V |
probably benign |
Het |
| Anapc16 |
T |
C |
10: 59,824,579 (GRCm39) |
E119G |
possibly damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,886 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cbr1 |
A |
C |
16: 93,405,119 (GRCm39) |
N89T |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,146,916 (GRCm39) |
Q2778L |
probably benign |
Het |
| Clca4c-ps |
A |
G |
3: 144,595,340 (GRCm39) |
|
noncoding transcript |
Het |
| Cst9 |
T |
C |
2: 148,677,269 (GRCm39) |
F47L |
probably damaging |
Het |
| Dqx1 |
T |
C |
6: 83,043,408 (GRCm39) |
|
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,692,794 (GRCm39) |
S150G |
probably benign |
Het |
| E2f2 |
A |
T |
4: 135,907,728 (GRCm39) |
K142* |
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,276,785 (GRCm39) |
H169Q |
probably benign |
Het |
| Fmo9 |
C |
T |
1: 166,490,904 (GRCm39) |
A525T |
probably benign |
Het |
| Gm42878 |
T |
C |
5: 121,683,247 (GRCm39) |
D6G |
probably benign |
Het |
| Igfals |
A |
G |
17: 25,099,056 (GRCm39) |
Y49C |
probably damaging |
Het |
| Il22b |
T |
C |
10: 118,126,069 (GRCm39) |
N176S |
possibly damaging |
Het |
| Ipo7 |
T |
C |
7: 109,629,055 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,121,657 (GRCm39) |
E784G |
probably damaging |
Het |
| Jcad |
G |
T |
18: 4,672,855 (GRCm39) |
E206* |
probably null |
Het |
| Kif24 |
A |
T |
4: 41,392,978 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,809,886 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
G |
17: 75,534,240 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
C |
T |
9: 57,045,244 (GRCm39) |
T451I |
possibly damaging |
Het |
| Manba |
T |
A |
3: 135,248,150 (GRCm39) |
N346K |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,825,964 (GRCm39) |
|
probably benign |
Het |
| Nfat5 |
T |
C |
8: 108,094,273 (GRCm39) |
V744A |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,985,192 (GRCm39) |
M98T |
possibly damaging |
Het |
| Nos1 |
A |
T |
5: 118,076,339 (GRCm39) |
K1120* |
probably null |
Het |
| Or11g25 |
C |
A |
14: 50,722,998 (GRCm39) |
Q28K |
probably benign |
Het |
| Plekho1 |
C |
T |
3: 95,898,147 (GRCm39) |
R172H |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,976,750 (GRCm39) |
C391S |
possibly damaging |
Het |
| Scn1a |
G |
A |
2: 66,162,645 (GRCm39) |
|
probably benign |
Het |
| Sgce |
T |
G |
6: 4,711,326 (GRCm39) |
N149H |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,728,426 (GRCm39) |
W126R |
probably damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,147,404 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
T |
A |
3: 83,845,362 (GRCm39) |
K423* |
probably null |
Het |
| Tnrc18 |
C |
T |
5: 142,750,642 (GRCm39) |
E1444K |
possibly damaging |
Het |
| Tpp1 |
T |
C |
7: 105,396,857 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
C |
1: 84,705,999 (GRCm39) |
S610R |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,314 (GRCm39) |
M695K |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,915,585 (GRCm39) |
I455T |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,370,621 (GRCm39) |
F686S |
probably damaging |
Het |
|
| Other mutations in Ushbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation