Incidental Mutation 'R0592:Whrn'
| ID |
56016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Whrn
|
| Ensembl Gene |
ENSMUSG00000039137 |
| Gene Name |
whirlin |
| Synonyms |
C430046P22Rik, Dfnb31, wi, 1110035G07Rik |
| MMRRC Submission |
038782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0592 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63414910-63495991 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 63415567 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 450
(A450S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063650]
[ENSMUST00000084510]
[ENSMUST00000095037]
[ENSMUST00000095038]
[ENSMUST00000102867]
[ENSMUST00000107393]
[ENSMUST00000119294]
|
| AlphaFold |
Q80VW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063650
AA Change: A881S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: A881S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
137 |
N/A |
INTRINSIC |
|
PDZ
|
151 |
223 |
3.62e-21 |
SMART |
|
PDZ
|
289 |
361 |
3.77e-19 |
SMART |
|
low complexity region
|
522 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
642 |
N/A |
INTRINSIC |
|
PDZ
|
824 |
904 |
2.63e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084510
AA Change: A892S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: A892S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
137 |
N/A |
INTRINSIC |
|
PDZ
|
151 |
223 |
3.62e-21 |
SMART |
|
PDZ
|
289 |
361 |
3.77e-19 |
SMART |
|
low complexity region
|
522 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
653 |
N/A |
INTRINSIC |
|
PDZ
|
835 |
915 |
2.63e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095037
AA Change: A378S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: A378S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
139 |
N/A |
INTRINSIC |
|
PDZ
|
321 |
401 |
2.63e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095038
AA Change: A450S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: A450S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
PDZ
|
393 |
473 |
2.63e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102867
AA Change: A880S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: A880S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
137 |
N/A |
INTRINSIC |
|
PDZ
|
151 |
223 |
3.62e-21 |
SMART |
|
PDZ
|
289 |
361 |
3.77e-19 |
SMART |
|
low complexity region
|
522 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
642 |
N/A |
INTRINSIC |
|
PDZ
|
823 |
903 |
2.63e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107393
AA Change: A885S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: A885S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
137 |
N/A |
INTRINSIC |
|
PDZ
|
151 |
223 |
1.7e-23 |
SMART |
|
PDZ
|
289 |
361 |
1.8e-21 |
SMART |
|
low complexity region
|
526 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
646 |
N/A |
INTRINSIC |
|
PDZ
|
828 |
908 |
1.3e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119294
AA Change: A439S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: A439S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
200 |
N/A |
INTRINSIC |
|
PDZ
|
382 |
462 |
2.63e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145133
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155058
|
| Meta Mutation Damage Score |
0.5341 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein required for elongation and actin polymerization in the hair cell stereocilia. The encoded protein is localized to the cytoplasm and co-localizes with the growing end of actin filaments. Mutations in this gene have been linked to deafness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
PHENOTYPE: Spontaneous mutants lacking both isoforms show short stereocilia, severe deafness and vestibular deficits. Targeted homozygotes lacking the long form show altered OHC stereocilia bundles but a milder phenotype with normal stereocilia in IHCs and a subset of vestibular HCs and no vestibular deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,245,007 |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,610,297 |
V53D |
probably benign |
Het |
| Bglap |
T |
A |
3: 88,383,655 |
I90F |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,760,691 |
R323H |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,130,902 |
|
probably null |
Het |
| Cdh8 |
T |
A |
8: 99,279,478 |
D159V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,456,612 |
Y3229H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 118,902,139 |
E381G |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,926,106 |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,581,113 |
S811P |
probably benign |
Het |
| Fhl3 |
A |
G |
4: 124,705,677 |
Y15C |
probably benign |
Het |
| Gstz1 |
G |
A |
12: 87,163,721 |
S126N |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,833,957 |
A267S |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,686,107 |
|
probably null |
Het |
| Katnal2 |
A |
T |
18: 77,002,560 |
|
probably null |
Het |
| Kdm2b |
G |
A |
5: 122,961,134 |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,998,766 |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 102,013,897 |
T724A |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,771,149 |
F244S |
probably damaging |
Het |
| Olfr1472 |
T |
C |
19: 13,453,705 |
I271V |
probably benign |
Het |
| Olfr715 |
G |
A |
7: 107,129,343 |
L17F |
probably benign |
Het |
| Ppil2 |
A |
G |
16: 17,107,219 |
S30P |
probably benign |
Het |
| Rab37 |
T |
G |
11: 115,160,523 |
|
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,489,579 |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,678,481 |
S3358P |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,729,782 |
H948L |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 33,841,074 |
N78I |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,854,258 |
V63M |
probably damaging |
Het |
| Slc9b1 |
A |
T |
3: 135,394,074 |
|
probably benign |
Het |
| Strip2 |
T |
A |
6: 29,931,210 |
S387T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,596,843 |
N145S |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 |
R637Q |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,896,826 |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 |
|
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,386,915 |
T267I |
probably damaging |
Het |
|
| Other mutations in Whrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01588:Whrn
|
APN |
4 |
63472778 |
missense |
probably damaging |
1.00 |
|
IGL01643:Whrn
|
APN |
4 |
63416435 |
missense |
possibly damaging |
0.79 |
|
IGL02065:Whrn
|
APN |
4 |
63418585 |
missense |
possibly damaging |
0.52 |
|
IGL02119:Whrn
|
APN |
4 |
63435487 |
missense |
probably damaging |
0.99 |
|
IGL02589:Whrn
|
APN |
4 |
63418097 |
nonsense |
probably null |
|
|
IGL02638:Whrn
|
APN |
4 |
63419472 |
missense |
possibly damaging |
0.47 |
|
IGL02865:Whrn
|
APN |
4 |
63415492 |
missense |
probably benign |
0.08 |
|
IGL02934:Whrn
|
APN |
4 |
63416105 |
missense |
probably damaging |
1.00 |
|
IGL03372:Whrn
|
APN |
4 |
63418618 |
missense |
probably damaging |
0.96 |
|
R0090:Whrn
|
UTSW |
4 |
63432732 |
missense |
possibly damaging |
0.79 |
|
R0631:Whrn
|
UTSW |
4 |
63419489 |
missense |
probably damaging |
1.00 |
|
R1916:Whrn
|
UTSW |
4 |
63494732 |
missense |
probably damaging |
1.00 |
|
R1933:Whrn
|
UTSW |
4 |
63415639 |
nonsense |
probably null |
|
|
R1958:Whrn
|
UTSW |
4 |
63435429 |
missense |
possibly damaging |
0.62 |
|
R2255:Whrn
|
UTSW |
4 |
63418148 |
missense |
possibly damaging |
0.92 |
|
R2513:Whrn
|
UTSW |
4 |
63435412 |
missense |
probably benign |
0.22 |
|
R3699:Whrn
|
UTSW |
4 |
63461412 |
splice site |
probably benign |
|
|
R3919:Whrn
|
UTSW |
4 |
63495184 |
nonsense |
probably null |
|
|
R4016:Whrn
|
UTSW |
4 |
63415639 |
nonsense |
probably null |
|
|
R4241:Whrn
|
UTSW |
4 |
63432973 |
unclassified |
probably benign |
|
|
R4517:Whrn
|
UTSW |
4 |
63461280 |
critical splice donor site |
probably null |
|
|
R4739:Whrn
|
UTSW |
4 |
63418165 |
missense |
probably damaging |
1.00 |
|
R5207:Whrn
|
UTSW |
4 |
63432714 |
missense |
probably damaging |
1.00 |
|
R5281:Whrn
|
UTSW |
4 |
63418427 |
missense |
probably benign |
0.04 |
|
R5307:Whrn
|
UTSW |
4 |
63431843 |
missense |
probably benign |
0.01 |
|
R5463:Whrn
|
UTSW |
4 |
63432816 |
missense |
probably benign |
0.08 |
|
R5663:Whrn
|
UTSW |
4 |
63418448 |
missense |
probably damaging |
0.98 |
|
R5754:Whrn
|
UTSW |
4 |
63416588 |
missense |
probably damaging |
0.98 |
|
R5933:Whrn
|
UTSW |
4 |
63494708 |
missense |
probably damaging |
1.00 |
|
R6212:Whrn
|
UTSW |
4 |
63494686 |
nonsense |
probably null |
|
|
R6380:Whrn
|
UTSW |
4 |
63418592 |
missense |
possibly damaging |
0.90 |
|
R6381:Whrn
|
UTSW |
4 |
63472684 |
missense |
probably benign |
0.00 |
|
R7030:Whrn
|
UTSW |
4 |
63495131 |
unclassified |
probably benign |
|
|
R7350:Whrn
|
UTSW |
4 |
63431959 |
missense |
possibly damaging |
0.71 |
|
R7382:Whrn
|
UTSW |
4 |
63418336 |
missense |
probably benign |
|
|
R7419:Whrn
|
UTSW |
4 |
63416093 |
missense |
possibly damaging |
0.94 |
|
R8334:Whrn
|
UTSW |
4 |
63494810 |
missense |
probably damaging |
1.00 |
|
R9378:Whrn
|
UTSW |
4 |
63431842 |
missense |
probably benign |
0.00 |
|
X0009:Whrn
|
UTSW |
4 |
63431911 |
missense |
probably benign |
0.00 |
|
Z1176:Whrn
|
UTSW |
4 |
63415566 |
missense |
probably damaging |
1.00 |
|
Z1177:Whrn
|
UTSW |
4 |
63418499 |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGTGTGAACTCTCCTGTGTCC -3'
(R):5'- ACTGGCAGCATCCAGTTGCTTAG -3'
Sequencing Primer
(F):5'- AGAGAAATGTACTCTGCCTTCC -3'
(R):5'- CATCCAGTTGCTTAGTGGGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation