Incidental Mutation 'IGL02119:Whrn'
| ID | 280524 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Whrn
|
|---|
| Ensembl Gene |
ENSMUSG00000039137 |
|---|
| Gene Name | whirlin |
|---|
| Synonyms | C430046P22Rik, Dfnb31, wi, 1110035G07Rik |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | IGL02119
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 4 |
|---|
| Chromosomal Location | 63414910-63495991 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to G
at 63435487 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Lysine to Glutamine
at position 348
(K348Q)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103016
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063650]
[ENSMUST00000063672]
[ENSMUST00000084510]
[ENSMUST00000095037]
[ENSMUST00000095038]
[ENSMUST00000102867]
[ENSMUST00000107393]
[ENSMUST00000119294]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063650
AA Change: K348Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: K348Q
| 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: K348Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137
AA Change: K348Q
| 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: K348Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: K348Q
| 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 damaging
Transcript: ENSMUST00000102867
AA Change: K348Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: K348Q
| 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 damaging
Transcript: ENSMUST00000107393
AA Change: K348Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: K348Q
| 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: 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: ENSMUST00000145133
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145630
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148957
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153307
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155058
|
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| Coding Region Coverage |
|
|---|
| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,328,000 |
|
probably null |
Het |
| Acsbg2 |
T |
C |
17: 56,868,459 |
|
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,462,403 |
V495A |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,511,154 |
|
probably benign |
Het |
| Bora |
A |
G |
14: 99,053,538 |
D94G |
probably damaging |
Het |
| Bpifb9b |
G |
T |
2: 154,313,624 |
V348L |
possibly damaging |
Het |
| Cd160 |
A |
T |
3: 96,808,823 |
I17N |
possibly damaging |
Het |
| Cyp2d11 |
A |
C |
15: 82,390,064 |
I372S |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,137,243 |
V380D |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 38,982,939 |
A3580V |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,818,266 |
S1024P |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,447,512 |
E1105K |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,121,042 |
E415V |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,453,668 |
F224Y |
probably damaging |
Het |
| Gm11146 |
A |
T |
16: 77,588,610 |
|
probably null |
Het |
| Gsn |
G |
T |
2: 35,302,495 |
R485L |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,775,493 |
Y261C |
probably damaging |
Het |
| Maneal |
A |
T |
4: 124,859,167 |
I229N |
probably benign |
Het |
| Med24 |
A |
T |
11: 98,728,835 |
M27K |
probably benign |
Het |
| Nipsnap2 |
T |
A |
5: 129,747,992 |
|
probably benign |
Het |
| Noa1 |
T |
A |
5: 77,307,579 |
Q430L |
probably benign |
Het |
| Olfr1099 |
T |
C |
2: 86,959,183 |
I92V |
probably benign |
Het |
| Olfr365 |
C |
A |
2: 37,201,269 |
S9R |
possibly damaging |
Het |
| Olfr74 |
T |
A |
2: 87,974,410 |
N85I |
probably benign |
Het |
| Olfr834 |
T |
C |
9: 18,988,612 |
V208A |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,459,803 |
S460R |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,300,490 |
Q826R |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 109,025,110 |
R351W |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,272,571 |
I1989N |
probably damaging |
Het |
| Poldip2 |
T |
A |
11: 78,517,908 |
F200I |
probably damaging |
Het |
| Prodh2 |
T |
C |
7: 30,506,504 |
V208A |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 105,827,003 |
D89G |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,339,017 |
S90R |
probably damaging |
Het |
| Slc44a4 |
A |
C |
17: 34,928,661 |
D441A |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,228,670 |
I174F |
probably damaging |
Het |
| Smim17 |
T |
C |
7: 6,427,161 |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,546,760 |
E872G |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 30,872,746 |
A296T |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,406,733 |
L625S |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 42,046,169 |
V273A |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,843,636 |
L620F |
probably damaging |
Het |
| Zc3h14 |
T |
C |
12: 98,763,895 |
V399A |
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 |
|
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 |
|
|
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 |
|
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 |
|
|---|
| Posted On | 2015-04-16 |
|---|
