Incidental Mutation 'R4517:Whrn'
| ID |
332942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Whrn
|
| Ensembl Gene |
ENSMUSG00000039137 |
| Gene Name |
whirlin |
| Synonyms |
C430046P22Rik, Dfnb31, wi, 1110035G07Rik |
| MMRRC Submission |
041761-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63414910-63495991 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 63461280 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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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
|
| Meta Mutation Damage Score |
0.9497 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
95% (39/41) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank |
A |
G |
15: 27,562,749 |
H181R |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 141,067,722 |
K408E |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,745,525 |
D123V |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,631,592 |
I340V |
probably benign |
Het |
| Echs1 |
A |
G |
7: 140,112,496 |
S113P |
possibly damaging |
Het |
| Fam122c |
G |
A |
X: 53,293,499 |
R94H |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,530,715 |
I391V |
probably benign |
Het |
| Glb1l |
C |
T |
1: 75,208,703 |
C121Y |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,243,571 |
D25V |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,552,239 |
N508K |
possibly damaging |
Het |
| H2-M10.3 |
C |
T |
17: 36,367,830 |
|
probably null |
Het |
| Ibsp |
C |
A |
5: 104,305,997 |
S67* |
probably null |
Het |
| Ifit1bl2 |
C |
T |
19: 34,629,764 |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,664,061 |
|
probably null |
Het |
| Kcnma1 |
A |
G |
14: 23,337,029 |
S982P |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,213,272 |
S707G |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,705,120 |
I437V |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 120,025,064 |
|
probably benign |
Het |
| Mcu |
T |
C |
10: 59,467,634 |
Y127C |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,476,057 |
Y284C |
probably damaging |
Het |
| Nr2f2 |
T |
G |
7: 70,358,122 |
N204T |
probably benign |
Het |
| Olfr541 |
A |
G |
7: 140,705,091 |
Y280C |
probably damaging |
Het |
| Olfr8 |
T |
A |
10: 78,956,043 |
Y279* |
probably null |
Het |
| Pcf11 |
T |
C |
7: 92,646,488 |
Y1451C |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,225,531 |
S109G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,028,973 |
S920P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 |
C537R |
probably damaging |
Het |
| Tas2r135 |
A |
T |
6: 42,406,079 |
H184L |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 72,572,161 |
P20S |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 104,149,718 |
V191M |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,681,213 |
Y534C |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 30,270,258 |
V259A |
probably damaging |
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 |
|
R3699:Whrn
|
UTSW |
4 |
63461412 |
splice site |
probably benign |
|
|
R3919:Whrn
|
UTSW |
4 |
63495184 |
nonsense |
probably null |
|
|
R4016:Whrn
|
UTSW |
4 |
63415639 |
nonsense |
probably null |
|
|
R4241:Whrn
|
UTSW |
4 |
63432973 |
unclassified |
probably benign |
|
|
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'- CACAGGCATCAGCAGTGTTTG -3'
(R):5'- TGGCTTCCTCCAGGTTAATG -3'
Sequencing Primer
(F):5'- CATTAGTCTCAAAAGAGCTGGGCTG -3'
(R):5'- GGCTTCCTCCAGGTTAATGTACTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation