Incidental Mutation 'R2393:Ushbp1'
| ID |
247868 |
| 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 |
040361-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2393 (G1)
|
| Quality Score |
173 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71836916-71848446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71847132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 167
(I167V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148319
(fasta)
|
| 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
AA Change: I167V
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: I167V
| 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
AA Change: I167V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213093
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,225,057 (GRCm39) |
L512* |
probably null |
Het |
| Adam4 |
A |
T |
12: 81,467,485 (GRCm39) |
F379I |
probably benign |
Het |
| Ano6 |
C |
G |
15: 95,863,906 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,535 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Arl8a |
T |
A |
1: 135,080,604 (GRCm39) |
V93E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,630 (GRCm39) |
I95N |
probably damaging |
Het |
| Cd209d |
A |
G |
8: 3,928,436 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,397,100 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,157,631 (GRCm39) |
D171E |
possibly damaging |
Het |
| Chrna7 |
G |
A |
7: 62,748,994 (GRCm39) |
A496V |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Colgalt1 |
C |
G |
8: 72,076,385 (GRCm39) |
T612S |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,787,893 (GRCm39) |
K602E |
probably benign |
Het |
| Crtc1 |
T |
A |
8: 70,840,808 (GRCm39) |
T473S |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,625,290 (GRCm39) |
|
probably null |
Het |
| Edem1 |
T |
G |
6: 108,829,504 (GRCm39) |
M541R |
probably damaging |
Het |
| Ehmt1 |
A |
C |
2: 24,696,229 (GRCm39) |
V953G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,828,968 (GRCm39) |
|
probably null |
Het |
| Focad |
A |
G |
4: 88,039,567 (GRCm39) |
D10G |
probably damaging |
Het |
| Gfus |
G |
T |
15: 75,798,200 (GRCm39) |
L191I |
probably damaging |
Het |
| Gm5901 |
G |
T |
7: 105,026,996 (GRCm39) |
V255F |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,659,840 (GRCm39) |
N416S |
probably damaging |
Het |
| Hspb1 |
T |
C |
5: 135,917,950 (GRCm39) |
F142L |
probably benign |
Het |
| Il17re |
C |
T |
6: 113,439,314 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,568 (GRCm39) |
I389T |
probably damaging |
Het |
| Lhx6 |
T |
C |
2: 35,981,402 (GRCm39) |
D63G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,327 (GRCm39) |
T156A |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,534,197 (GRCm39) |
Y680C |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,365 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Mst1 |
T |
G |
9: 107,960,151 (GRCm39) |
|
probably null |
Het |
| Myh13 |
T |
A |
11: 67,231,184 (GRCm39) |
S394T |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,290,529 (GRCm39) |
V1042E |
probably damaging |
Het |
| Ndrg4 |
T |
A |
8: 96,432,839 (GRCm39) |
Y15* |
probably null |
Het |
| Neurl4 |
G |
A |
11: 69,797,900 (GRCm39) |
R720H |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,455 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,389,055 (GRCm39) |
M202K |
probably benign |
Het |
| Or10d4 |
G |
T |
9: 39,580,569 (GRCm39) |
C72F |
possibly damaging |
Het |
| Or2av9 |
T |
A |
11: 58,381,546 (GRCm39) |
I12F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,581,036 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,480,368 (GRCm39) |
T715A |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,935 (GRCm39) |
L858P |
probably benign |
Het |
| Pla2g3 |
A |
C |
11: 3,443,115 (GRCm39) |
S483R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,798 (GRCm39) |
D573E |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,912,352 (GRCm39) |
|
probably benign |
Het |
| Rpl39l |
A |
T |
16: 9,992,328 (GRCm39) |
*52L |
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,194,501 (GRCm39) |
R381W |
possibly damaging |
Het |
| Spns3 |
T |
A |
11: 72,441,059 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,259,872 (GRCm39) |
S493P |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,892,836 (GRCm39) |
S293P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,583,211 (GRCm39) |
V20815M |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,340,231 (GRCm39) |
A1296T |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,158,180 (GRCm39) |
Y573C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACATCTGTCACTGTTCC -3'
(R):5'- AGTGGCCCTGCTGAGATATC -3'
Sequencing Primer
(F):5'- ACATCTGTCACTGTTCCACATCAG -3'
(R):5'- CTGCTGAGATATCAGTACCCAGTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation