Incidental Mutation 'R5307:Whrn'
| ID |
404622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Whrn
|
| Ensembl Gene |
ENSMUSG00000039137 |
| Gene Name |
whirlin |
| Synonyms |
1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik |
| MMRRC Submission |
042890-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
63333147-63414228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 63350080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 546
(H546N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063650]
[ENSMUST00000063672]
[ENSMUST00000084510]
[ENSMUST00000095037]
[ENSMUST00000095038]
[ENSMUST00000102867]
[ENSMUST00000107393]
[ENSMUST00000119294]
|
| AlphaFold |
Q80VW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063650
|
| SMART Domains |
Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
| 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: H546N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137
AA Change: H546N
| 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
|
| SMART Domains |
Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
| 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: ENSMUST00000148957
|
| 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 |
probably benign
Transcript: ENSMUST00000145630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153307
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,559,383 (GRCm39) |
T264A |
probably benign |
Het |
| Arhgef17 |
C |
G |
7: 100,578,635 (GRCm39) |
G771A |
probably benign |
Het |
| Atg2b |
T |
A |
12: 105,624,588 (GRCm39) |
D637V |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,103,302 (GRCm39) |
E562G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,497,280 (GRCm39) |
V342A |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,810 (GRCm39) |
I527T |
probably benign |
Het |
| Atr |
T |
A |
9: 95,760,597 (GRCm39) |
N1022K |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,562,683 (GRCm39) |
D383E |
probably benign |
Het |
| Casq1 |
A |
T |
1: 172,046,983 (GRCm39) |
L92Q |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,952,832 (GRCm39) |
Y371N |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,723,777 (GRCm39) |
A617T |
probably damaging |
Het |
| Cntrob |
T |
A |
11: 69,205,576 (GRCm39) |
R419S |
possibly damaging |
Het |
| Corin |
C |
A |
5: 72,514,321 (GRCm39) |
G318C |
probably damaging |
Het |
| Cpa3 |
A |
G |
3: 20,281,327 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,879,710 (GRCm39) |
S493G |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,826,321 (GRCm39) |
F80S |
probably damaging |
Het |
| Dhrs2 |
A |
G |
14: 55,473,601 (GRCm39) |
S87G |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,414,641 (GRCm39) |
E14G |
possibly damaging |
Het |
| Dtd1 |
A |
G |
2: 144,588,942 (GRCm39) |
E200G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,155,099 (GRCm39) |
E895G |
probably damaging |
Het |
| Ehhadh |
A |
C |
16: 21,581,442 (GRCm39) |
S517A |
probably benign |
Het |
| Ephb2 |
C |
A |
4: 136,421,098 (GRCm39) |
Q417H |
possibly damaging |
Het |
| Ephb4 |
A |
G |
5: 137,361,574 (GRCm39) |
T526A |
probably damaging |
Het |
| Fam222b |
G |
A |
11: 78,044,594 (GRCm39) |
V52I |
probably damaging |
Het |
| Galm |
G |
A |
17: 80,452,416 (GRCm39) |
W118* |
probably null |
Het |
| Galm |
G |
T |
17: 80,452,417 (GRCm39) |
W118C |
probably damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,921,367 (GRCm39) |
N458D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gykl1 |
A |
C |
18: 52,827,723 (GRCm39) |
R310S |
possibly damaging |
Het |
| Gzmn |
A |
C |
14: 56,405,403 (GRCm39) |
V27G |
probably damaging |
Het |
| H2-T23 |
T |
A |
17: 36,343,108 (GRCm39) |
M90L |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,164,877 (GRCm39) |
E87G |
unknown |
Het |
| Hps3 |
G |
A |
3: 20,066,865 (GRCm39) |
S567L |
possibly damaging |
Het |
| Igfn1 |
A |
T |
1: 135,892,676 (GRCm39) |
V2148E |
probably damaging |
Het |
| Ighv1-75 |
T |
C |
12: 115,797,572 (GRCm39) |
R117G |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,036,464 (GRCm39) |
A1134V |
probably benign |
Het |
| Kmt2b |
C |
T |
7: 30,281,098 (GRCm39) |
A1294T |
possibly damaging |
Het |
| Leng8 |
C |
T |
7: 4,148,472 (GRCm39) |
T748I |
probably damaging |
Het |
| Lrig3 |
G |
C |
10: 125,842,559 (GRCm39) |
D495H |
probably damaging |
Het |
| Mctp1 |
G |
A |
13: 76,860,198 (GRCm39) |
|
probably null |
Het |
| Mfsd3 |
T |
A |
15: 76,586,371 (GRCm39) |
L168* |
probably null |
Het |
| Nherf1 |
T |
A |
11: 115,054,587 (GRCm39) |
I79N |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,096,709 (GRCm39) |
G921* |
probably null |
Het |
| Nsun4 |
G |
A |
4: 115,891,335 (GRCm39) |
T348I |
probably damaging |
Het |
| Nucb1 |
T |
C |
7: 45,147,842 (GRCm39) |
T246A |
probably damaging |
Het |
| Nynrin |
A |
C |
14: 56,101,263 (GRCm39) |
S311R |
probably damaging |
Het |
| Or4k37 |
T |
A |
2: 111,158,741 (GRCm39) |
|
probably null |
Het |
| Or5ar1 |
T |
G |
2: 85,671,358 (GRCm39) |
Y259S |
probably damaging |
Het |
| Ovch2 |
C |
A |
7: 107,391,341 (GRCm39) |
R303L |
probably benign |
Het |
| Pcsk9 |
A |
G |
4: 106,304,371 (GRCm39) |
S490P |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,140,894 (GRCm39) |
F859L |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,367,424 (GRCm39) |
D1207G |
probably damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,911,964 (GRCm39) |
R710Q |
possibly damaging |
Het |
| Prex2 |
T |
G |
1: 11,270,256 (GRCm39) |
S1314A |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,078,757 (GRCm39) |
L64P |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc6a20b |
T |
G |
9: 123,432,899 (GRCm39) |
S374R |
possibly damaging |
Het |
| Slc8a1 |
G |
T |
17: 81,956,653 (GRCm39) |
N128K |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,211 (GRCm39) |
D32V |
probably damaging |
Het |
| Snrnp35 |
T |
C |
5: 124,628,553 (GRCm39) |
I122T |
possibly damaging |
Het |
| Snx24 |
C |
T |
18: 53,473,283 (GRCm39) |
Q76* |
probably null |
Het |
| Sspo |
T |
A |
6: 48,431,784 (GRCm39) |
H692Q |
probably damaging |
Het |
| Stxbp3 |
T |
C |
3: 108,701,114 (GRCm39) |
D585G |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,072,677 (GRCm39) |
N2211D |
possibly damaging |
Het |
| Tnfrsf18 |
G |
A |
4: 156,112,881 (GRCm39) |
|
probably null |
Het |
| Tnik |
T |
G |
3: 28,596,121 (GRCm39) |
D171E |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,533,745 (GRCm39) |
H266L |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,725,114 (GRCm39) |
S2037* |
probably null |
Het |
| Tuba3a |
G |
A |
6: 125,258,273 (GRCm39) |
T239I |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,890,594 (GRCm39) |
D767E |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,341,506 (GRCm39) |
T1249I |
probably damaging |
Het |
| Zbtb1 |
T |
A |
12: 76,433,014 (GRCm39) |
D333E |
probably damaging |
Het |
| Zfp689 |
T |
G |
7: 127,047,987 (GRCm39) |
E15A |
possibly damaging |
Het |
| Zhx3 |
A |
G |
2: 160,621,788 (GRCm39) |
M793T |
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 |
|
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 |
|
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'- AGAAATAGCCCTTAGGAAACCTTTC -3'
(R):5'- TCCTGTCTGAGGTGAGAAGC -3'
Sequencing Primer
(F):5'- CCCTCTATCCCCAGACTGAGAG -3'
(R):5'- CCTGTCTGAGGTGAGAAGCATCATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation