Incidental Mutation 'IGL02065:Whrn'
| ID |
185599 |
| 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 # |
IGL02065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63333147-63414228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63336822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 580
(I580N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069664
(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: I580N
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: I580N
| 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: I591N
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: I591N
| 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: I77N
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: I77N
| 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: I149N
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: I149N
| 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: I580N
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: I580N
| 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: I584N
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: I584N
| 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: I138N
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: I138N
| 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: ENSMUST00000155058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124016
|
| 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 |
|---|
| Abcc10 |
C |
T |
17: 46,623,827 (GRCm39) |
E770K |
possibly damaging |
Het |
| Abhd17a |
C |
A |
10: 80,422,395 (GRCm39) |
A22S |
probably benign |
Het |
| Actbl2 |
A |
G |
13: 111,392,225 (GRCm39) |
T187A |
probably benign |
Het |
| Adgrl3 |
G |
A |
5: 81,660,064 (GRCm39) |
G278R |
probably damaging |
Het |
| Apoh |
C |
A |
11: 108,305,131 (GRCm39) |
|
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,790,828 (GRCm39) |
F192S |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,268,754 (GRCm39) |
I163T |
possibly damaging |
Het |
| Bmp1 |
G |
T |
14: 70,723,660 (GRCm39) |
N725K |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,727,547 (GRCm39) |
I679F |
probably damaging |
Het |
| Bmp2 |
T |
A |
2: 133,402,844 (GRCm39) |
F132I |
probably benign |
Het |
| Bpifb5 |
T |
C |
2: 154,069,103 (GRCm39) |
L140P |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,731,279 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,764,586 (GRCm39) |
T730A |
possibly damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,342 (GRCm39) |
K647N |
probably damaging |
Het |
| Cdh17 |
A |
C |
4: 11,771,373 (GRCm39) |
|
probably benign |
Het |
| Cep126 |
A |
G |
9: 8,099,925 (GRCm39) |
S870P |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,954,302 (GRCm39) |
T346A |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,530,024 (GRCm39) |
V2592G |
probably damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,504,244 (GRCm39) |
F239I |
probably damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| F5 |
G |
A |
1: 164,017,695 (GRCm39) |
V591M |
probably damaging |
Het |
| Fchsd2 |
T |
G |
7: 100,826,429 (GRCm39) |
|
probably null |
Het |
| Flad1 |
A |
T |
3: 89,316,294 (GRCm39) |
D89E |
probably damaging |
Het |
| Fsd1 |
C |
A |
17: 56,303,499 (GRCm39) |
P457Q |
probably damaging |
Het |
| Gm21985 |
A |
G |
2: 112,187,929 (GRCm39) |
D1012G |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,764,517 (GRCm39) |
D366G |
probably null |
Het |
| Hadha |
A |
G |
5: 30,347,843 (GRCm39) |
|
probably benign |
Het |
| Kdr |
A |
G |
5: 76,122,513 (GRCm39) |
|
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,426,136 (GRCm39) |
K24R |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,397 (GRCm39) |
D661G |
probably benign |
Het |
| Mical1 |
A |
T |
10: 41,360,407 (GRCm39) |
K615N |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,310,435 (GRCm39) |
K204E |
possibly damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,346 (GRCm39) |
I32F |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,963,492 (GRCm39) |
D175G |
possibly damaging |
Het |
| Or10ak8 |
G |
A |
4: 118,773,968 (GRCm39) |
T232I |
probably benign |
Het |
| Or12j5 |
T |
C |
7: 140,084,077 (GRCm39) |
I98M |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,587,143 (GRCm39) |
F4713L |
possibly damaging |
Het |
| Serpinb1b |
G |
A |
13: 33,275,301 (GRCm39) |
G142D |
possibly damaging |
Het |
| Slc10a1 |
A |
G |
12: 81,007,248 (GRCm39) |
S178P |
possibly damaging |
Het |
| Spint1 |
G |
A |
2: 119,068,698 (GRCm39) |
R144H |
probably benign |
Het |
| Sult6b1 |
C |
T |
17: 79,196,504 (GRCm39) |
G213R |
probably damaging |
Het |
| Themis3 |
G |
T |
17: 66,862,900 (GRCm39) |
H353N |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,289,525 (GRCm39) |
S619P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,645,134 (GRCm39) |
V11161E |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,987,314 (GRCm39) |
V837I |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,880,670 (GRCm39) |
V677A |
probably benign |
Het |
| Wdr62 |
A |
G |
7: 29,942,894 (GRCm39) |
V1001A |
possibly damaging |
Het |
| Wls |
T |
A |
3: 159,616,993 (GRCm39) |
V344D |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,385,222 (GRCm39) |
Y5070* |
probably null |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation