Incidental Mutation 'IGL03372:Whrn'
| ID |
420350 |
| 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 # |
IGL03372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63333147-63414228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63336855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 127
(D127G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063650]
[ENSMUST00000084510]
[ENSMUST00000095037]
[ENSMUST00000095038]
[ENSMUST00000102867]
[ENSMUST00000107393]
[ENSMUST00000119294]
|
| AlphaFold |
Q80VW5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063650
AA Change: D569G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: D569G
| 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 |
possibly damaging
Transcript: ENSMUST00000084510
AA Change: D580G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: D580G
| 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 damaging
Transcript: ENSMUST00000095037
AA Change: D66G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: D66G
| 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 |
possibly damaging
Transcript: ENSMUST00000095038
AA Change: D138G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: D138G
| 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: D569G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: D569G
| 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: D573G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: D573G
| 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: D127G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: D127G
| 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: ENSMUST00000155058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145133
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,911,362 (GRCm39) |
A1161V |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,028,350 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
T |
2: 153,242,333 (GRCm39) |
N961I |
probably damaging |
Het |
| Bcl2l10 |
A |
G |
9: 75,255,329 (GRCm39) |
I49V |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,962,578 (GRCm39) |
|
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,597 (GRCm39) |
M54V |
probably benign |
Het |
| Cep72 |
A |
C |
13: 74,191,637 (GRCm39) |
L200V |
possibly damaging |
Het |
| Clic4 |
T |
C |
4: 134,945,925 (GRCm39) |
D164G |
probably damaging |
Het |
| Col5a3 |
G |
A |
9: 20,686,624 (GRCm39) |
P1334S |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,459,030 (GRCm39) |
L293P |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,479,109 (GRCm39) |
S140T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,052,833 (GRCm39) |
M2897K |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,952,666 (GRCm39) |
E721G |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,218,109 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,943,283 (GRCm39) |
K725N |
possibly damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,909 (GRCm39) |
I308V |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,432,674 (GRCm39) |
|
probably benign |
Het |
| Gm10109 |
A |
T |
7: 43,871,126 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,245,519 (GRCm39) |
V405I |
probably damaging |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,077 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
A |
G |
1: 90,072,691 (GRCm39) |
I63T |
possibly damaging |
Het |
| Kcmf1 |
A |
C |
6: 72,826,546 (GRCm39) |
L161R |
probably damaging |
Het |
| Kif19a |
G |
T |
11: 114,670,044 (GRCm39) |
V80L |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,670,774 (GRCm39) |
|
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,840,783 (GRCm39) |
I575N |
possibly damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,077 (GRCm39) |
|
probably benign |
Het |
| Larp1b |
A |
T |
3: 40,978,962 (GRCm39) |
H6L |
possibly damaging |
Het |
| Map4k2 |
T |
A |
19: 6,392,279 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
C |
1: 63,759,154 (GRCm39) |
H146R |
possibly damaging |
Het |
| Morc2a |
T |
C |
11: 3,631,813 (GRCm39) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 123,170,113 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,131,654 (GRCm39) |
S514N |
probably damaging |
Het |
| Nav1 |
A |
T |
1: 135,378,641 (GRCm39) |
I1610K |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,584,473 (GRCm39) |
L2095P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,963,588 (GRCm39) |
N115S |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,577 (GRCm39) |
Y218H |
probably damaging |
Het |
| Otud6b |
A |
C |
4: 14,812,519 (GRCm39) |
I276R |
possibly damaging |
Het |
| P2rx6 |
G |
A |
16: 17,385,356 (GRCm39) |
E150K |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,150,996 (GRCm39) |
L771Q |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,806,976 (GRCm39) |
N1087K |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,453,713 (GRCm39) |
R31L |
probably benign |
Het |
| Proser3 |
A |
C |
7: 30,242,993 (GRCm39) |
S195A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,586,121 (GRCm39) |
K292E |
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,438,781 (GRCm39) |
R394H |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,375,314 (GRCm39) |
I649T |
probably damaging |
Het |
| Skint3 |
G |
A |
4: 112,113,103 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,304,285 (GRCm39) |
L576Q |
probably damaging |
Het |
| Snx2 |
A |
G |
18: 53,349,463 (GRCm39) |
D408G |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,817,069 (GRCm39) |
V203A |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,936,459 (GRCm39) |
V1530M |
probably damaging |
Het |
| Tsc2 |
A |
C |
17: 24,838,444 (GRCm39) |
L515R |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 72,108,353 (GRCm39) |
M500K |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,496 (GRCm39) |
D76G |
probably benign |
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 |
|
|
IGL02638:Whrn
|
APN |
4 |
63,337,709 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation