Incidental Mutation 'R6381:Whrn'
| ID |
515306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Whrn
|
| Ensembl Gene |
ENSMUSG00000039137 |
| Gene Name |
whirlin |
| Synonyms |
C430046P22Rik, Dfnb31, wi, 1110035G07Rik |
| 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 |
63414910-63495991 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63472684 bp (GRCm38)
|
| 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]
[ENSMUST00000119294]
[ENSMUST00000133425]
|
| 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: 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: ENSMUST00000124016
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000140720
|
| 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 |
|
| 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: 70,467,717 (GRCm38) |
M365L |
probably damaging |
Het |
| Aars2 |
A |
G |
17: 45,518,545 (GRCm38) |
E786G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,256,994 (GRCm38) |
V478F |
possibly damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,574,184 (GRCm38) |
D12E |
probably damaging |
Het |
| Aplf |
A |
T |
6: 87,658,977 (GRCm38) |
M118K |
probably damaging |
Het |
| Apobec1 |
A |
G |
6: 122,578,931 (GRCm38) |
L189P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,504,256 (GRCm38) |
Q152R |
possibly damaging |
Het |
| Bche |
A |
G |
3: 73,701,799 (GRCm38) |
I98T |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,715,776 (GRCm38) |
R983L |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,505,224 (GRCm38) |
|
probably benign |
Het |
| Cd74 |
G |
T |
18: 60,811,363 (GRCm38) |
C215F |
probably damaging |
Het |
| Cep97 |
C |
T |
16: 55,922,171 (GRCm38) |
A138T |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,217,578 (GRCm38) |
N204I |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,696,462 (GRCm38) |
D1620G |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,129,185 (GRCm38) |
V12A |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,456,765 (GRCm38) |
|
probably null |
Het |
| Elapor1 |
T |
C |
3: 108,481,814 (GRCm38) |
K222E |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 19,201,163 (GRCm38) |
V432I |
probably damaging |
Het |
| Entr1 |
A |
G |
2: 26,385,081 (GRCm38) |
|
probably null |
Het |
| Gm10570 |
G |
T |
4: 130,308,228 (GRCm38) |
|
probably benign |
Het |
| Gm7145 |
C |
T |
1: 117,985,939 (GRCm38) |
Q184* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,431,918 (GRCm38) |
G294R |
possibly damaging |
Het |
| Gtse1 |
G |
A |
15: 85,862,148 (GRCm38) |
R55H |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,984,525 (GRCm38) |
Q381K |
possibly damaging |
Het |
| Ifit3b |
T |
C |
19: 34,612,471 (GRCm38) |
I349T |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 139,400,673 (GRCm38) |
D9V |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,287,684 (GRCm38) |
N937S |
possibly damaging |
Het |
| Kcna4 |
T |
C |
2: 107,294,972 (GRCm38) |
M17T |
probably benign |
Het |
| Lipa |
T |
A |
19: 34,524,746 (GRCm38) |
M33L |
probably benign |
Het |
| Marchf6 |
G |
T |
15: 31,467,692 (GRCm38) |
Q790K |
probably benign |
Het |
| Mccc1 |
G |
A |
3: 35,976,727 (GRCm38) |
P397S |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,552,390 (GRCm38) |
I196V |
probably benign |
Het |
| Myh15 |
T |
A |
16: 49,101,481 (GRCm38) |
S463R |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,664,351 (GRCm38) |
K291E |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 85,642,509 (GRCm38) |
T294A |
probably damaging |
Het |
| Nkx1-1 |
T |
C |
5: 33,433,976 (GRCm38) |
M1V |
probably null |
Het |
| Or2h2 |
C |
T |
17: 37,086,085 (GRCm38) |
V27I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,344,008 (GRCm38) |
T357I |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,655,273 (GRCm38) |
E242G |
probably benign |
Het |
| Rnase12 |
A |
C |
14: 51,057,094 (GRCm38) |
Y43D |
probably damaging |
Het |
| Rpl18 |
T |
A |
7: 45,719,592 (GRCm38) |
F58I |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 29,075,257 (GRCm38) |
M2313L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,320,311 (GRCm38) |
Q1627K |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,767,499 (GRCm38) |
S640G |
probably benign |
Het |
| Sdr9c7 |
T |
A |
10: 127,903,673 (GRCm38) |
M219K |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,435,803 (GRCm38) |
M392K |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,675,216 (GRCm38) |
K337N |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,179,546 (GRCm38) |
V325A |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,746,850 (GRCm38) |
E342G |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,754,487 (GRCm38) |
L37* |
probably null |
Het |
| Tep1 |
T |
C |
14: 50,845,431 (GRCm38) |
D1040G |
probably damaging |
Het |
| Tmc8 |
A |
T |
11: 117,791,600 (GRCm38) |
S613C |
probably null |
Het |
| Top3a |
C |
T |
11: 60,744,023 (GRCm38) |
C660Y |
probably damaging |
Het |
| Tpsg1 |
C |
T |
17: 25,372,569 (GRCm38) |
R48C |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,428,818 (GRCm38) |
N72S |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,138,905 (GRCm38) |
Y173* |
probably null |
Het |
|
| Other mutations in Whrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01588:Whrn
|
APN |
4 |
63,472,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01643:Whrn
|
APN |
4 |
63,416,435 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL02065:Whrn
|
APN |
4 |
63,418,585 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02119:Whrn
|
APN |
4 |
63,435,487 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02589:Whrn
|
APN |
4 |
63,418,097 (GRCm38) |
nonsense |
probably null |
|
|
IGL02638:Whrn
|
APN |
4 |
63,419,472 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02865:Whrn
|
APN |
4 |
63,415,492 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02934:Whrn
|
APN |
4 |
63,416,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03372:Whrn
|
APN |
4 |
63,418,618 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0090:Whrn
|
UTSW |
4 |
63,432,732 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0592:Whrn
|
UTSW |
4 |
63,415,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0631:Whrn
|
UTSW |
4 |
63,419,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1916:Whrn
|
UTSW |
4 |
63,494,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1933:Whrn
|
UTSW |
4 |
63,415,639 (GRCm38) |
nonsense |
probably null |
|
|
R1958:Whrn
|
UTSW |
4 |
63,435,429 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2255:Whrn
|
UTSW |
4 |
63,418,148 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2513:Whrn
|
UTSW |
4 |
63,435,412 (GRCm38) |
missense |
probably benign |
0.22 |
|
R3699:Whrn
|
UTSW |
4 |
63,461,412 (GRCm38) |
splice site |
probably benign |
|
|
R3919:Whrn
|
UTSW |
4 |
63,495,184 (GRCm38) |
nonsense |
probably null |
|
|
R4016:Whrn
|
UTSW |
4 |
63,415,639 (GRCm38) |
nonsense |
probably null |
|
|
R4241:Whrn
|
UTSW |
4 |
63,432,973 (GRCm38) |
unclassified |
probably benign |
|
|
R4517:Whrn
|
UTSW |
4 |
63,461,280 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4739:Whrn
|
UTSW |
4 |
63,418,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5207:Whrn
|
UTSW |
4 |
63,432,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5281:Whrn
|
UTSW |
4 |
63,418,427 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5307:Whrn
|
UTSW |
4 |
63,431,843 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5463:Whrn
|
UTSW |
4 |
63,432,816 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5663:Whrn
|
UTSW |
4 |
63,418,448 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5754:Whrn
|
UTSW |
4 |
63,416,588 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5933:Whrn
|
UTSW |
4 |
63,494,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6212:Whrn
|
UTSW |
4 |
63,494,686 (GRCm38) |
nonsense |
probably null |
|
|
R6380:Whrn
|
UTSW |
4 |
63,418,592 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7030:Whrn
|
UTSW |
4 |
63,495,131 (GRCm38) |
unclassified |
probably benign |
|
|
R7350:Whrn
|
UTSW |
4 |
63,431,959 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7382:Whrn
|
UTSW |
4 |
63,418,336 (GRCm38) |
missense |
probably benign |
|
|
R7419:Whrn
|
UTSW |
4 |
63,416,093 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8334:Whrn
|
UTSW |
4 |
63,494,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9378:Whrn
|
UTSW |
4 |
63,431,842 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0009:Whrn
|
UTSW |
4 |
63,431,911 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Whrn
|
UTSW |
4 |
63,415,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Whrn
|
UTSW |
4 |
63,418,499 (GRCm38) |
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 |
Incidental Mutation