Incidental Mutation 'R3699:Whrn'
| ID |
269909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Whrn
|
| Ensembl Gene |
ENSMUSG00000039137 |
| Gene Name |
whirlin |
| Synonyms |
C430046P22Rik, Dfnb31, wi, 1110035G07Rik |
| MMRRC Submission |
040692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3699 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63414910-63495991 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 63461412 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000065838
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 |
|
| 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 |
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
|
| SMART Domains |
Protein: ENSMUSP00000119280
Gene: ENSMUSG00000039137
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000153307
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (33/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,254,700 |
A275V |
possibly damaging |
Het |
| Atp1b2 |
G |
A |
11: 69,605,269 |
T35I |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,917,046 |
V751A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,327,370 |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,468,490 |
L1127I |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 134,349,068 |
L292P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,213,074 |
|
probably benign |
Het |
| Gm13084 |
A |
G |
4: 143,810,352 |
S470P |
probably benign |
Het |
| Gm8229 |
T |
A |
14: 44,366,527 |
S58T |
unknown |
Het |
| Gucy2c |
A |
T |
6: 136,770,111 |
C117S |
probably damaging |
Het |
| Kirrel |
C |
T |
3: 87,089,151 |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,436,066 |
Y291H |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,255,205 |
S333R |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,818,920 |
Y479C |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,848,759 |
|
probably benign |
Het |
| Olfr1349 |
A |
G |
7: 6,514,994 |
M145T |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,672,465 |
R1400S |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,601,545 |
A466V |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 122,494,903 |
R584H |
probably damaging |
Het |
| Polq |
C |
A |
16: 37,042,156 |
S338Y |
probably damaging |
Het |
| Rassf8 |
T |
C |
6: 145,820,076 |
|
probably benign |
Het |
| Rere |
A |
T |
4: 150,477,362 |
|
probably null |
Het |
| Rps6kb1 |
A |
G |
11: 86,532,794 |
F120S |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,514,369 |
C78F |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 120,091,753 |
C491Y |
possibly damaging |
Het |
| Trpv4 |
A |
G |
5: 114,634,800 |
S243P |
probably damaging |
Het |
| Wdr60 |
C |
T |
12: 116,211,842 |
W905* |
probably null |
Het |
| Zfp521 |
G |
T |
18: 13,846,273 |
S361* |
probably null |
Het |
| Zfyve19 |
A |
G |
2: 119,211,239 |
T96A |
probably benign |
Het |
|
| Other mutations in Whrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01588:Whrn
|
APN |
4 |
63472778 |
missense |
probably damaging |
1.00 |
|
IGL01643:Whrn
|
APN |
4 |
63416435 |
missense |
possibly damaging |
0.79 |
|
IGL02065:Whrn
|
APN |
4 |
63418585 |
missense |
possibly damaging |
0.52 |
|
IGL02119:Whrn
|
APN |
4 |
63435487 |
missense |
probably damaging |
0.99 |
|
IGL02589:Whrn
|
APN |
4 |
63418097 |
nonsense |
probably null |
|
|
IGL02638:Whrn
|
APN |
4 |
63419472 |
missense |
possibly damaging |
0.47 |
|
IGL02865:Whrn
|
APN |
4 |
63415492 |
missense |
probably benign |
0.08 |
|
IGL02934:Whrn
|
APN |
4 |
63416105 |
missense |
probably damaging |
1.00 |
|
IGL03372:Whrn
|
APN |
4 |
63418618 |
missense |
probably damaging |
0.96 |
|
R0090:Whrn
|
UTSW |
4 |
63432732 |
missense |
possibly damaging |
0.79 |
|
R0592:Whrn
|
UTSW |
4 |
63415567 |
missense |
probably damaging |
1.00 |
|
R0631:Whrn
|
UTSW |
4 |
63419489 |
missense |
probably damaging |
1.00 |
|
R1916:Whrn
|
UTSW |
4 |
63494732 |
missense |
probably damaging |
1.00 |
|
R1933:Whrn
|
UTSW |
4 |
63415639 |
nonsense |
probably null |
|
|
R1958:Whrn
|
UTSW |
4 |
63435429 |
missense |
possibly damaging |
0.62 |
|
R2255:Whrn
|
UTSW |
4 |
63418148 |
missense |
possibly damaging |
0.92 |
|
R2513:Whrn
|
UTSW |
4 |
63435412 |
missense |
probably benign |
0.22 |
|
R3919:Whrn
|
UTSW |
4 |
63495184 |
nonsense |
probably null |
|
|
R4016:Whrn
|
UTSW |
4 |
63415639 |
nonsense |
probably null |
|
|
R4241:Whrn
|
UTSW |
4 |
63432973 |
unclassified |
probably benign |
|
|
R4517:Whrn
|
UTSW |
4 |
63461280 |
critical splice donor site |
probably null |
|
|
R4739:Whrn
|
UTSW |
4 |
63418165 |
missense |
probably damaging |
1.00 |
|
R5207:Whrn
|
UTSW |
4 |
63432714 |
missense |
probably damaging |
1.00 |
|
R5281:Whrn
|
UTSW |
4 |
63418427 |
missense |
probably benign |
0.04 |
|
R5307:Whrn
|
UTSW |
4 |
63431843 |
missense |
probably benign |
0.01 |
|
R5463:Whrn
|
UTSW |
4 |
63432816 |
missense |
probably benign |
0.08 |
|
R5663:Whrn
|
UTSW |
4 |
63418448 |
missense |
probably damaging |
0.98 |
|
R5754:Whrn
|
UTSW |
4 |
63416588 |
missense |
probably damaging |
0.98 |
|
R5933:Whrn
|
UTSW |
4 |
63494708 |
missense |
probably damaging |
1.00 |
|
R6212:Whrn
|
UTSW |
4 |
63494686 |
nonsense |
probably null |
|
|
R6380:Whrn
|
UTSW |
4 |
63418592 |
missense |
possibly damaging |
0.90 |
|
R6381:Whrn
|
UTSW |
4 |
63472684 |
missense |
probably benign |
0.00 |
|
R7030:Whrn
|
UTSW |
4 |
63495131 |
unclassified |
probably benign |
|
|
R7350:Whrn
|
UTSW |
4 |
63431959 |
missense |
possibly damaging |
0.71 |
|
R7382:Whrn
|
UTSW |
4 |
63418336 |
missense |
probably benign |
|
|
R7419:Whrn
|
UTSW |
4 |
63416093 |
missense |
possibly damaging |
0.94 |
|
R8334:Whrn
|
UTSW |
4 |
63494810 |
missense |
probably damaging |
1.00 |
|
R9378:Whrn
|
UTSW |
4 |
63431842 |
missense |
probably benign |
0.00 |
|
X0009:Whrn
|
UTSW |
4 |
63431911 |
missense |
probably benign |
0.00 |
|
Z1176:Whrn
|
UTSW |
4 |
63415566 |
missense |
probably damaging |
1.00 |
|
Z1177:Whrn
|
UTSW |
4 |
63418499 |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCACCTGCTTTGCTGAAG -3'
(R):5'- CCTGCCTTTGTGTGGTGAAC -3'
Sequencing Primer
(F):5'- ACCACCTGCTTTGCTGAAGTAAATC -3'
(R):5'- CTTTGTGTGGTGAACAGAGGGAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation