Incidental Mutation 'R6381:Whrn'
ID |
515306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Whrn
|
Ensembl Gene |
ENSMUSG00000039137 |
Gene Name |
whirlin |
Synonyms |
1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik |
MMRRC Submission |
044530-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6381 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
63333147-63414228 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 63390921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 269
(T269I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063650]
[ENSMUST00000063672]
[ENSMUST00000084510]
[ENSMUST00000095037]
[ENSMUST00000095038]
[ENSMUST00000102867]
[ENSMUST00000107393]
[ENSMUST00000133425]
[ENSMUST00000119294]
|
AlphaFold |
Q80VW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063650
AA Change: T269I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000069664 Gene: ENSMUSG00000039137 AA Change: T269I
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: ENSMUST00000063672
AA Change: T269I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000065838 Gene: ENSMUSG00000039137 AA Change: T269I
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084510
AA Change: T269I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000081557 Gene: ENSMUSG00000039137 AA Change: T269I
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
|
SMART Domains |
Protein: ENSMUSP00000092647 Gene: ENSMUSG00000039137
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
|
SMART Domains |
Protein: ENSMUSP00000092648 Gene: ENSMUSG00000039137
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: T269I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099931 Gene: ENSMUSG00000039137 AA Change: T269I
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: T269I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103016 Gene: ENSMUSG00000039137 AA Change: T269I
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: ENSMUST00000133425
AA Change: T111I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119280 Gene: ENSMUSG00000039137 AA Change: T111I
Domain | Start | End | E-Value | Type |
PDZ
|
1 |
65 |
6.42e-13 |
SMART |
internal_repeat_1
|
139 |
164 |
3.88e-7 |
PROSPERO |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000144965
AA Change: T19I
|
SMART Domains |
Protein: ENSMUSP00000121944 Gene: ENSMUSG00000039137 AA Change: T19I
Domain | Start | End | E-Value | Type |
PDB:1UF1|A
|
16 |
74 |
7e-33 |
PDB |
SCOP:d1lcya1
|
32 |
74 |
1e-7 |
SMART |
Blast:PDZ
|
40 |
74 |
5e-16 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119294
|
SMART Domains |
Protein: ENSMUSP00000114030 Gene: ENSMUSG00000039137
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: ENSMUST00000140720
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124016
|
Meta Mutation Damage Score |
0.0696 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
97% (56/58) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
T |
A |
18: 70,600,788 (GRCm39) |
M365L |
probably damaging |
Het |
Aars2 |
A |
G |
17: 45,829,471 (GRCm39) |
E786G |
probably benign |
Het |
Adamts12 |
G |
T |
15: 11,257,080 (GRCm39) |
V478F |
possibly damaging |
Het |
Akr1c21 |
T |
A |
13: 4,624,183 (GRCm39) |
D12E |
probably damaging |
Het |
Aplf |
A |
T |
6: 87,635,959 (GRCm39) |
M118K |
probably damaging |
Het |
Apobec1 |
A |
G |
6: 122,555,890 (GRCm39) |
L189P |
probably damaging |
Het |
BC061237 |
A |
G |
14: 44,741,713 (GRCm39) |
Q152R |
possibly damaging |
Het |
Bche |
A |
G |
3: 73,609,132 (GRCm39) |
I98T |
probably benign |
Het |
Cc2d2a |
G |
T |
5: 43,873,118 (GRCm39) |
R983L |
possibly damaging |
Het |
Ccnd3 |
T |
C |
17: 47,816,149 (GRCm39) |
|
probably benign |
Het |
Cd74 |
G |
T |
18: 60,944,435 (GRCm39) |
C215F |
probably damaging |
Het |
Cep97 |
C |
T |
16: 55,742,534 (GRCm39) |
A138T |
probably damaging |
Het |
Ces1e |
T |
A |
8: 93,944,206 (GRCm39) |
N204I |
probably damaging |
Het |
Dicer1 |
T |
C |
12: 104,662,721 (GRCm39) |
D1620G |
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,020,011 (GRCm39) |
V12A |
probably benign |
Het |
Dstyk |
T |
A |
1: 132,384,503 (GRCm39) |
|
probably null |
Het |
Elapor1 |
T |
C |
3: 108,389,130 (GRCm39) |
K222E |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Entr1 |
A |
G |
2: 26,275,093 (GRCm39) |
|
probably null |
Het |
Gm10570 |
G |
T |
4: 130,202,021 (GRCm39) |
|
probably benign |
Het |
Gm7145 |
C |
T |
1: 117,913,669 (GRCm39) |
Q184* |
probably null |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Gtse1 |
G |
A |
15: 85,746,349 (GRCm39) |
R55H |
probably benign |
Het |
Hdac4 |
G |
T |
1: 91,912,247 (GRCm39) |
Q381K |
possibly damaging |
Het |
Ifit3b |
T |
C |
19: 34,589,871 (GRCm39) |
I349T |
probably benign |
Het |
Inpp5a |
A |
T |
7: 138,980,589 (GRCm39) |
D9V |
probably benign |
Het |
Irs1 |
T |
C |
1: 82,265,405 (GRCm39) |
N937S |
possibly damaging |
Het |
Kcna4 |
T |
C |
2: 107,125,317 (GRCm39) |
M17T |
probably benign |
Het |
Lipa |
T |
A |
19: 34,502,146 (GRCm39) |
M33L |
probably benign |
Het |
Marchf6 |
G |
T |
15: 31,467,838 (GRCm39) |
Q790K |
probably benign |
Het |
Mccc1 |
G |
A |
3: 36,030,876 (GRCm39) |
P397S |
probably benign |
Het |
Mrgprb2 |
T |
C |
7: 48,202,138 (GRCm39) |
I196V |
probably benign |
Het |
Myh15 |
T |
A |
16: 48,921,844 (GRCm39) |
S463R |
probably damaging |
Het |
Nab2 |
T |
C |
10: 127,500,220 (GRCm39) |
K291E |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,369,138 (GRCm39) |
T294A |
probably damaging |
Het |
Nkx1-1 |
T |
C |
5: 33,591,320 (GRCm39) |
M1V |
probably null |
Het |
Or2h2 |
C |
T |
17: 37,396,977 (GRCm39) |
V27I |
probably benign |
Het |
Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
Psmd2 |
A |
G |
16: 20,474,023 (GRCm39) |
E242G |
probably benign |
Het |
Rnase12 |
A |
C |
14: 51,294,551 (GRCm39) |
Y43D |
probably damaging |
Het |
Rpl18 |
T |
A |
7: 45,369,016 (GRCm39) |
F58I |
probably damaging |
Het |
Ryr1 |
T |
G |
7: 28,774,682 (GRCm39) |
M2313L |
possibly damaging |
Het |
Scn4a |
G |
T |
11: 106,211,137 (GRCm39) |
Q1627K |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,366,722 (GRCm39) |
S640G |
probably benign |
Het |
Sdr9c7 |
T |
A |
10: 127,739,542 (GRCm39) |
M219K |
probably benign |
Het |
Soat1 |
A |
T |
1: 156,263,373 (GRCm39) |
M392K |
probably damaging |
Het |
Spata18 |
G |
T |
5: 73,832,559 (GRCm39) |
K337N |
probably damaging |
Het |
Supt16 |
A |
G |
14: 52,417,003 (GRCm39) |
V325A |
probably benign |
Het |
Syt2 |
A |
G |
1: 134,674,588 (GRCm39) |
E342G |
probably damaging |
Het |
Tars2 |
A |
T |
3: 95,661,799 (GRCm39) |
L37* |
probably null |
Het |
Tep1 |
T |
C |
14: 51,082,888 (GRCm39) |
D1040G |
probably damaging |
Het |
Tmc8 |
A |
T |
11: 117,682,426 (GRCm39) |
S613C |
probably null |
Het |
Top3a |
C |
T |
11: 60,634,849 (GRCm39) |
C660Y |
probably damaging |
Het |
Tpsg1 |
C |
T |
17: 25,591,543 (GRCm39) |
R48C |
probably damaging |
Het |
Vmn2r57 |
T |
C |
7: 41,078,242 (GRCm39) |
N72S |
probably benign |
Het |
Zfp759 |
T |
A |
13: 67,286,969 (GRCm39) |
Y173* |
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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTATAGGTCACAGGAGGAAGCC -3'
(R):5'- TCTCAAAGGCTCCAAGAAGC -3'
Sequencing Primer
(F):5'- CCAAACTTGGGAGACTCAAAAG -3'
(R):5'- AGGCTCCAAGAAGCTGGTGC -3'
|
Posted On |
2018-05-04 |