Incidental Mutation 'R0022:Strc'
| ID |
212515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strc
|
| Ensembl Gene |
ENSMUSG00000033498 |
| Gene Name |
stereocilin |
| Synonyms |
DFNB16 |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
43 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121193729-121211851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121198874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1391
(L1391P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000317]
[ENSMUST00000038389]
[ENSMUST00000078222]
[ENSMUST00000129136]
|
| AlphaFold |
Q8VIM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000317
|
| SMART Domains |
Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
Pfam:ATP-gua_PtransN
|
58 |
133 |
5.8e-34 |
PFAM |
|
Pfam:ATP-gua_Ptrans
|
154 |
401 |
4.5e-98 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038389
AA Change: L1391P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039378
Gene: ENSMUSG00000033498
AA Change: L1391P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
635 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
1168 |
1194 |
N/A |
INTRINSIC |
|
low complexity region
|
1287 |
1302 |
N/A |
INTRINSIC |
|
low complexity region
|
1560 |
1580 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078222
|
| SMART Domains |
Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
Pfam:ATP-gua_PtransN
|
55 |
134 |
1.2e-37 |
PFAM |
|
Pfam:ATP-gua_Ptrans
|
154 |
401 |
2e-105 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129136
|
| SMART Domains |
Protein: ENSMUSP00000118211
Gene: ENSMUSG00000033498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153040
|
| Meta Mutation Damage Score |
0.5084 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit progressive hearing loss from P15 with abnormal cochlear outer hair cell stereociliary bundle morphology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,587,485 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
G |
A |
3: 121,782,586 (GRCm39) |
V91I |
possibly damaging |
Het |
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Bpifb5 |
A |
T |
2: 154,072,268 (GRCm39) |
D325V |
probably damaging |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Col5a2 |
G |
A |
1: 45,422,843 (GRCm39) |
R1125* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,903,092 (GRCm39) |
V2049E |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,382 (GRCm39) |
I4V |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,507,675 (GRCm39) |
T138A |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,420 (GRCm39) |
S14P |
probably benign |
Het |
| Elavl3 |
C |
A |
9: 21,948,167 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,188,408 (GRCm39) |
I297N |
possibly damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,632,082 (GRCm39) |
N332Y |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,612 (GRCm39) |
T256A |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,716 (GRCm39) |
Y74F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcm7 |
T |
C |
5: 138,162,981 (GRCm39) |
*390W |
probably null |
Het |
| Myo18a |
T |
C |
11: 77,734,059 (GRCm39) |
|
probably null |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1a |
T |
G |
11: 71,014,207 (GRCm39) |
T348P |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Or4f53 |
A |
G |
2: 111,087,994 (GRCm39) |
Y178C |
probably benign |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pdzd2 |
G |
A |
15: 12,371,691 (GRCm39) |
A2568V |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Plekhb2 |
G |
A |
1: 34,905,320 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,047,479 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Pnldc1 |
A |
G |
17: 13,109,006 (GRCm39) |
Y497H |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,619,627 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,725,509 (GRCm39) |
V592M |
probably damaging |
Het |
| Top1 |
A |
C |
2: 160,544,719 (GRCm39) |
K278N |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,585,700 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,910,705 (GRCm39) |
I699T |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,491,860 (GRCm39) |
E119G |
possibly damaging |
Het |
|
| Other mutations in Strc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Strc
|
APN |
2 |
121,195,541 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01152:Strc
|
APN |
2 |
121,201,276 (GRCm39) |
missense |
probably benign |
|
|
IGL01608:Strc
|
APN |
2 |
121,206,075 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01695:Strc
|
APN |
2 |
121,205,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01715:Strc
|
APN |
2 |
121,196,218 (GRCm39) |
splice site |
probably null |
|
|
IGL01906:Strc
|
APN |
2 |
121,208,115 (GRCm39) |
missense |
probably benign |
|
|
IGL02135:Strc
|
APN |
2 |
121,195,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02416:Strc
|
APN |
2 |
121,199,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02455:Strc
|
APN |
2 |
121,206,272 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03029:Strc
|
APN |
2 |
121,194,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03176:Strc
|
APN |
2 |
121,202,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03272:Strc
|
APN |
2 |
121,202,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Strc
|
UTSW |
2 |
121,204,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02799:Strc
|
UTSW |
2 |
121,209,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Strc
|
UTSW |
2 |
121,205,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Strc
|
UTSW |
2 |
121,210,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1065:Strc
|
UTSW |
2 |
121,197,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Strc
|
UTSW |
2 |
121,202,558 (GRCm39) |
intron |
probably benign |
|
|
R1148:Strc
|
UTSW |
2 |
121,202,558 (GRCm39) |
intron |
probably benign |
|
|
R1203:Strc
|
UTSW |
2 |
121,202,604 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1343:Strc
|
UTSW |
2 |
121,195,596 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1544:Strc
|
UTSW |
2 |
121,203,219 (GRCm39) |
splice site |
probably null |
|
|
R1650:Strc
|
UTSW |
2 |
121,211,366 (GRCm39) |
start gained |
probably benign |
|
|
R1840:Strc
|
UTSW |
2 |
121,209,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Strc
|
UTSW |
2 |
121,201,518 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2035:Strc
|
UTSW |
2 |
121,205,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Strc
|
UTSW |
2 |
121,209,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Strc
|
UTSW |
2 |
121,196,343 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2219:Strc
|
UTSW |
2 |
121,195,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Strc
|
UTSW |
2 |
121,195,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4375:Strc
|
UTSW |
2 |
121,211,304 (GRCm39) |
missense |
unknown |
|
|
R4563:Strc
|
UTSW |
2 |
121,196,286 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4578:Strc
|
UTSW |
2 |
121,208,484 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4607:Strc
|
UTSW |
2 |
121,203,426 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4651:Strc
|
UTSW |
2 |
121,204,829 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4652:Strc
|
UTSW |
2 |
121,204,829 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4790:Strc
|
UTSW |
2 |
121,206,075 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5480:Strc
|
UTSW |
2 |
121,195,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5580:Strc
|
UTSW |
2 |
121,205,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5679:Strc
|
UTSW |
2 |
121,198,581 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5703:Strc
|
UTSW |
2 |
121,201,295 (GRCm39) |
missense |
probably benign |
|
|
R5841:Strc
|
UTSW |
2 |
121,196,358 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5917:Strc
|
UTSW |
2 |
121,209,790 (GRCm39) |
missense |
probably benign |
|
|
R5958:Strc
|
UTSW |
2 |
121,207,403 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6320:Strc
|
UTSW |
2 |
121,205,439 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6619:Strc
|
UTSW |
2 |
121,198,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6695:Strc
|
UTSW |
2 |
121,207,705 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6970:Strc
|
UTSW |
2 |
121,208,495 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7018:Strc
|
UTSW |
2 |
121,199,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Strc
|
UTSW |
2 |
121,201,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7190:Strc
|
UTSW |
2 |
121,199,507 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7283:Strc
|
UTSW |
2 |
121,209,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7694:Strc
|
UTSW |
2 |
121,207,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Strc
|
UTSW |
2 |
121,202,229 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7700:Strc
|
UTSW |
2 |
121,202,229 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7756:Strc
|
UTSW |
2 |
121,201,427 (GRCm39) |
missense |
probably benign |
|
|
R7758:Strc
|
UTSW |
2 |
121,201,427 (GRCm39) |
missense |
probably benign |
|
|
R7822:Strc
|
UTSW |
2 |
121,208,219 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7830:Strc
|
UTSW |
2 |
121,205,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7953:Strc
|
UTSW |
2 |
121,207,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8137:Strc
|
UTSW |
2 |
121,197,219 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8394:Strc
|
UTSW |
2 |
121,209,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8427:Strc
|
UTSW |
2 |
121,208,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Strc
|
UTSW |
2 |
121,208,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8874:Strc
|
UTSW |
2 |
121,205,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8947:Strc
|
UTSW |
2 |
121,201,470 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9285:Strc
|
UTSW |
2 |
121,195,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Strc
|
UTSW |
2 |
121,211,336 (GRCm39) |
missense |
unknown |
|
|
R9386:Strc
|
UTSW |
2 |
121,198,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9438:Strc
|
UTSW |
2 |
121,198,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9581:Strc
|
UTSW |
2 |
121,207,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Strc
|
UTSW |
2 |
121,209,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Strc
|
UTSW |
2 |
121,206,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGAAACAAGTTGCCCTGCTC -3'
(R):5'- TGCATTCTCCAAGGCTTGATGCCC -3'
Sequencing Primer
(F):5'- AATACTAGGCGTCCAGCTTGC -3'
(R):5'- AAGGCTTGATGCCCCTCTC -3'
|
| Posted On |
2014-07-08 |
Incidental Mutation