Incidental Mutation 'R5207:Whrn'
ID |
402069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Whrn
|
Ensembl Gene |
ENSMUSG00000039137 |
Gene Name |
whirlin |
Synonyms |
1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik |
MMRRC Submission |
042782-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5207 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
63333147-63414228 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63350951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 15
(V15E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063650]
[ENSMUST00000063672]
[ENSMUST00000084510]
[ENSMUST00000095037]
[ENSMUST00000095038]
[ENSMUST00000102867]
[ENSMUST00000107393]
[ENSMUST00000119294]
|
AlphaFold |
Q80VW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063650
AA Change: V457E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000069664 Gene: ENSMUSG00000039137 AA Change: V457E
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 damaging
Transcript: ENSMUST00000063672
AA Change: V457E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000065838 Gene: ENSMUSG00000039137 AA Change: V457E
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 damaging
Transcript: ENSMUST00000084510
AA Change: V457E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000081557 Gene: ENSMUSG00000039137 AA Change: V457E
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 damaging
Transcript: ENSMUST00000095038
AA Change: V15E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092648 Gene: ENSMUSG00000039137 AA Change: V15E
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 damaging
Transcript: ENSMUST00000102867
AA Change: V457E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099931 Gene: ENSMUSG00000039137 AA Change: V457E
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 |
possibly damaging
Transcript: ENSMUST00000107393
AA Change: V461E
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103016 Gene: ENSMUSG00000039137 AA Change: V461E
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 |
noncoding transcript
Transcript: ENSMUST00000124016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155058
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119294
AA Change: V15E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114030 Gene: ENSMUSG00000039137 AA Change: V15E
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: ENSMUST00000153307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144965
|
SMART Domains |
Protein: ENSMUSP00000121944 Gene: ENSMUSG00000039137
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: ENSMUST00000145630
|
Meta Mutation Damage Score |
0.6340 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (60/62) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,621,159 (GRCm39) |
|
probably benign |
Het |
Alg6 |
C |
T |
4: 99,607,431 (GRCm39) |
L15F |
possibly damaging |
Het |
Allc |
T |
A |
12: 28,605,325 (GRCm39) |
M325L |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,126,517 (GRCm39) |
N361S |
possibly damaging |
Het |
Bmp8b |
A |
G |
4: 123,009,714 (GRCm39) |
|
probably benign |
Het |
Borcs6 |
A |
T |
11: 68,951,674 (GRCm39) |
T351S |
probably damaging |
Het |
Ccar1 |
T |
C |
10: 62,589,060 (GRCm39) |
R808G |
unknown |
Het |
Celsr3 |
A |
T |
9: 108,709,958 (GRCm39) |
T1480S |
probably benign |
Het |
Chdh |
C |
T |
14: 29,753,318 (GRCm39) |
P76S |
probably damaging |
Het |
Chmp7 |
T |
C |
14: 69,969,755 (GRCm39) |
S62G |
probably benign |
Het |
Cldn23 |
A |
T |
8: 36,293,182 (GRCm39) |
V102E |
probably damaging |
Het |
Csn2 |
G |
A |
5: 87,842,821 (GRCm39) |
Q69* |
probably null |
Het |
Ctrc |
A |
C |
4: 141,567,695 (GRCm39) |
I136S |
probably damaging |
Het |
Cysltr2 |
A |
C |
14: 73,266,951 (GRCm39) |
L253R |
probably damaging |
Het |
Ddr2 |
G |
A |
1: 169,812,530 (GRCm39) |
T654M |
probably damaging |
Het |
Derl2 |
G |
T |
11: 70,910,073 (GRCm39) |
|
probably null |
Het |
Dnai7 |
A |
T |
6: 145,124,794 (GRCm39) |
D510E |
probably damaging |
Het |
Dock5 |
T |
C |
14: 68,013,733 (GRCm39) |
S1330G |
probably benign |
Het |
Emp3 |
T |
C |
7: 45,569,373 (GRCm39) |
N56S |
probably benign |
Het |
Fam161a |
A |
T |
11: 22,970,583 (GRCm39) |
K195* |
probably null |
Het |
Ficd |
T |
A |
5: 113,875,072 (GRCm39) |
V47E |
probably benign |
Het |
Garin3 |
T |
C |
11: 46,295,990 (GRCm39) |
S121P |
probably benign |
Het |
Gbp10 |
T |
C |
5: 105,372,575 (GRCm39) |
T123A |
probably benign |
Het |
Gdf7 |
C |
T |
12: 8,348,371 (GRCm39) |
A309T |
unknown |
Het |
Gm14486 |
G |
T |
2: 30,548,572 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
A |
9: 66,307,151 (GRCm39) |
C990* |
probably null |
Het |
Itgb4 |
T |
C |
11: 115,897,365 (GRCm39) |
V1530A |
probably damaging |
Het |
Itpka |
G |
A |
2: 119,580,974 (GRCm39) |
R374H |
probably damaging |
Het |
Lacc1 |
T |
A |
14: 77,271,594 (GRCm39) |
|
probably null |
Het |
Med23 |
A |
T |
10: 24,771,734 (GRCm39) |
K225* |
probably null |
Het |
Mrgpra3 |
T |
A |
7: 47,239,909 (GRCm39) |
T6S |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,578,583 (GRCm39) |
N32Y |
probably damaging |
Het |
Mrps2 |
A |
G |
2: 28,359,763 (GRCm39) |
R207G |
probably damaging |
Het |
Mup20 |
A |
C |
4: 61,969,823 (GRCm39) |
|
probably null |
Het |
Nagpa |
A |
G |
16: 5,017,478 (GRCm39) |
|
probably null |
Het |
Nek3 |
A |
T |
8: 22,622,243 (GRCm39) |
|
probably benign |
Het |
Nes |
G |
A |
3: 87,885,935 (GRCm39) |
G1398E |
probably damaging |
Het |
Nf1 |
G |
T |
11: 79,345,015 (GRCm39) |
V1323L |
probably damaging |
Het |
Or5b96 |
T |
A |
19: 12,867,801 (GRCm39) |
I47F |
probably benign |
Het |
Or6b2 |
A |
T |
1: 92,407,594 (GRCm39) |
F250I |
probably benign |
Het |
Or6c2 |
T |
C |
10: 129,362,773 (GRCm39) |
F226L |
probably benign |
Het |
Paqr8 |
G |
T |
1: 21,005,482 (GRCm39) |
C212F |
probably benign |
Het |
Pcdhb1 |
T |
C |
18: 37,399,515 (GRCm39) |
Y489H |
probably damaging |
Het |
Piwil2 |
T |
C |
14: 70,629,966 (GRCm39) |
K683E |
probably damaging |
Het |
Pjvk |
A |
C |
2: 76,480,734 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
A |
T |
8: 110,359,823 (GRCm39) |
S893C |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,471,207 (GRCm39) |
T993A |
probably benign |
Het |
Ppp2r2b |
A |
T |
18: 42,821,417 (GRCm39) |
I247N |
probably damaging |
Het |
Rac2 |
T |
C |
15: 78,449,654 (GRCm39) |
N92S |
probably damaging |
Het |
Senp2 |
A |
T |
16: 21,860,130 (GRCm39) |
H501L |
possibly damaging |
Het |
Snx29 |
A |
T |
16: 11,556,227 (GRCm39) |
I753F |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,740,386 (GRCm39) |
H355L |
probably damaging |
Het |
Tex2 |
T |
C |
11: 106,437,666 (GRCm39) |
D668G |
unknown |
Het |
Tlr12 |
G |
A |
4: 128,510,502 (GRCm39) |
Q583* |
probably null |
Het |
Tmem119 |
T |
C |
5: 113,933,289 (GRCm39) |
I171V |
probably damaging |
Het |
Ube2m |
C |
T |
7: 12,770,249 (GRCm39) |
|
probably null |
Het |
Vmn2r25 |
A |
T |
6: 123,817,062 (GRCm39) |
I173N |
probably damaging |
Het |
Zfp558 |
A |
C |
9: 18,368,296 (GRCm39) |
V164G |
possibly 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGACTTCTTCTACCTGAGC -3'
(R):5'- TTCAGCCAGGATTTTACAAGGG -3'
Sequencing Primer
(F):5'- CCCTGATGCCTGCTTGTGAAG -3'
(R):5'- CCAGGATTTTACAAGGGCCCAG -3'
|
Posted On |
2016-07-22 |