Incidental Mutation 'IGL02638:Whrn'
| ID |
301619 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Whrn
|
| Ensembl Gene |
ENSMUSG00000039137 |
| Gene Name |
whirlin |
| Synonyms |
1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02638
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63333147-63414228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63337709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 48
(T48A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063650]
[ENSMUST00000084510]
[ENSMUST00000095037]
[ENSMUST00000095038]
[ENSMUST00000102867]
[ENSMUST00000107393]
[ENSMUST00000119294]
|
| AlphaFold |
Q80VW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063650
AA Change: T551A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: T551A
| 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 benign
Transcript: ENSMUST00000084510
AA Change: T562A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: T562A
| 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 |
possibly damaging
Transcript: ENSMUST00000095037
AA Change: T48A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: T48A
| 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 benign
Transcript: ENSMUST00000095038
AA Change: T120A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: T120A
| 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 benign
Transcript: ENSMUST00000102867
AA Change: T551A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: T551A
| 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 benign
Transcript: ENSMUST00000107393
AA Change: T555A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: T555A
| 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 benign
Transcript: ENSMUST00000119294
AA Change: T109A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: T109A
| 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: ENSMUST00000145133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145630
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh3 |
T |
A |
2: 93,838,458 (GRCm39) |
T38S |
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,656,422 (GRCm39) |
V895A |
possibly damaging |
Het |
| Cdkn2c |
A |
G |
4: 109,522,209 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
C |
3: 144,631,939 (GRCm39) |
C189G |
probably damaging |
Het |
| Clec4f |
T |
A |
6: 83,629,682 (GRCm39) |
N292I |
possibly damaging |
Het |
| Dkk3 |
A |
C |
7: 111,748,234 (GRCm39) |
S123R |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,748,209 (GRCm39) |
A1557V |
probably benign |
Het |
| E130308A19Rik |
C |
T |
4: 59,719,676 (GRCm39) |
Q403* |
probably null |
Het |
| F5 |
G |
A |
1: 164,012,177 (GRCm39) |
|
probably null |
Het |
| Fam98c |
T |
A |
7: 28,852,187 (GRCm39) |
D326V |
probably damaging |
Het |
| Firrm |
G |
A |
1: 163,786,868 (GRCm39) |
Q734* |
probably null |
Het |
| Frem2 |
A |
C |
3: 53,458,767 (GRCm39) |
V2034G |
possibly damaging |
Het |
| Galnt2 |
G |
A |
8: 124,958,318 (GRCm39) |
G18D |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
| Hif3a |
A |
C |
7: 16,778,293 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
C |
T |
9: 85,601,946 (GRCm39) |
G755D |
probably damaging |
Het |
| Laptm4b |
A |
G |
15: 34,277,630 (GRCm39) |
N187S |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,232,380 (GRCm39) |
T776A |
probably damaging |
Het |
| Matcap2 |
A |
T |
9: 22,341,775 (GRCm39) |
K149* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,104 (GRCm39) |
W860R |
possibly damaging |
Het |
| Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
| Nup42 |
A |
G |
5: 24,380,505 (GRCm39) |
T167A |
probably benign |
Het |
| Or10j2 |
A |
G |
1: 173,097,898 (GRCm39) |
D52G |
probably benign |
Het |
| Or2z2 |
C |
A |
11: 58,345,873 (GRCm39) |
A301S |
probably damaging |
Het |
| Or4k45 |
T |
C |
2: 111,395,249 (GRCm39) |
D180G |
probably damaging |
Het |
| Or5w10 |
T |
C |
2: 87,375,093 (GRCm39) |
Y265C |
probably damaging |
Het |
| Or8j3c |
T |
C |
2: 86,254,021 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
C |
7: 101,886,629 (GRCm39) |
L217P |
probably damaging |
Het |
| Pik3c2b |
T |
G |
1: 133,005,056 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
T |
A |
7: 45,006,092 (GRCm39) |
D149V |
probably damaging |
Het |
| Prkcb |
C |
T |
7: 122,200,063 (GRCm39) |
|
probably benign |
Het |
| Prl |
A |
G |
13: 27,245,562 (GRCm39) |
D97G |
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,149,698 (GRCm39) |
|
noncoding transcript |
Het |
| Rnf112 |
T |
C |
11: 61,340,231 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
C |
A |
10: 89,412,465 (GRCm39) |
G323* |
probably null |
Het |
| Snx19 |
T |
C |
9: 30,343,660 (GRCm39) |
F607L |
possibly damaging |
Het |
| Suco |
A |
G |
1: 161,655,256 (GRCm39) |
S1079P |
probably damaging |
Het |
| Taf5 |
T |
C |
19: 47,056,649 (GRCm39) |
L149P |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,752,630 (GRCm39) |
M379V |
probably benign |
Het |
| Tcf25 |
T |
C |
8: 124,126,031 (GRCm39) |
F558L |
probably damaging |
Het |
| Tlcd1 |
T |
C |
11: 78,070,444 (GRCm39) |
V102A |
probably benign |
Het |
| Tmc5 |
G |
T |
7: 118,226,456 (GRCm39) |
A274S |
probably benign |
Het |
| Toporsl |
C |
T |
4: 52,611,624 (GRCm39) |
H506Y |
probably benign |
Het |
| Ubtd1 |
T |
C |
19: 42,022,109 (GRCm39) |
L127P |
possibly damaging |
Het |
| Usp24 |
A |
C |
4: 106,295,967 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
C |
A |
4: 106,295,969 (GRCm39) |
|
probably benign |
Het |
| Usp43 |
T |
G |
11: 67,746,581 (GRCm39) |
D1042A |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,862,032 (GRCm39) |
I102T |
probably benign |
Het |
| Zfp763 |
T |
C |
17: 33,238,908 (GRCm39) |
D79G |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,389 (GRCm39) |
Y45C |
probably damaging |
Het |
|
| Other mutations in Whrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01588:Whrn
|
APN |
4 |
63,391,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01643:Whrn
|
APN |
4 |
63,334,672 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02065:Whrn
|
APN |
4 |
63,336,822 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02119:Whrn
|
APN |
4 |
63,353,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02589:Whrn
|
APN |
4 |
63,336,334 (GRCm39) |
nonsense |
probably null |
|
|
IGL02865:Whrn
|
APN |
4 |
63,333,729 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02934:Whrn
|
APN |
4 |
63,334,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:Whrn
|
APN |
4 |
63,336,855 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0090:Whrn
|
UTSW |
4 |
63,350,969 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0592:Whrn
|
UTSW |
4 |
63,333,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Whrn
|
UTSW |
4 |
63,337,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Whrn
|
UTSW |
4 |
63,412,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Whrn
|
UTSW |
4 |
63,333,876 (GRCm39) |
nonsense |
probably null |
|
|
R1958:Whrn
|
UTSW |
4 |
63,353,666 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2255:Whrn
|
UTSW |
4 |
63,336,385 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2513:Whrn
|
UTSW |
4 |
63,353,649 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3699:Whrn
|
UTSW |
4 |
63,379,649 (GRCm39) |
splice site |
probably benign |
|
|
R3919:Whrn
|
UTSW |
4 |
63,413,421 (GRCm39) |
nonsense |
probably null |
|
|
R4016:Whrn
|
UTSW |
4 |
63,333,876 (GRCm39) |
nonsense |
probably null |
|
|
R4241:Whrn
|
UTSW |
4 |
63,351,210 (GRCm39) |
unclassified |
probably benign |
|
|
R4517:Whrn
|
UTSW |
4 |
63,379,517 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4739:Whrn
|
UTSW |
4 |
63,336,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Whrn
|
UTSW |
4 |
63,350,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5281:Whrn
|
UTSW |
4 |
63,336,664 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5307:Whrn
|
UTSW |
4 |
63,350,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5463:Whrn
|
UTSW |
4 |
63,351,053 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5663:Whrn
|
UTSW |
4 |
63,336,685 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5754:Whrn
|
UTSW |
4 |
63,334,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5933:Whrn
|
UTSW |
4 |
63,412,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6212:Whrn
|
UTSW |
4 |
63,412,923 (GRCm39) |
nonsense |
probably null |
|
|
R6380:Whrn
|
UTSW |
4 |
63,336,829 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6381:Whrn
|
UTSW |
4 |
63,390,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7030:Whrn
|
UTSW |
4 |
63,413,368 (GRCm39) |
unclassified |
probably benign |
|
|
R7350:Whrn
|
UTSW |
4 |
63,350,196 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7382:Whrn
|
UTSW |
4 |
63,336,573 (GRCm39) |
missense |
probably benign |
|
|
R7419:Whrn
|
UTSW |
4 |
63,334,330 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8334:Whrn
|
UTSW |
4 |
63,413,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Whrn
|
UTSW |
4 |
63,350,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0009:Whrn
|
UTSW |
4 |
63,350,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Whrn
|
UTSW |
4 |
63,333,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Whrn
|
UTSW |
4 |
63,336,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation