Incidental Mutation 'IGL02119:Whrn'
| ID |
280524 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Whrn
|
| Ensembl Gene |
ENSMUSG00000039137 |
| Gene Name |
whirlin |
| Synonyms |
1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02119
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63333147-63414228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 63353724 bp (GRCm39)
|
| 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]
|
| AlphaFold |
Q80VW5 |
| 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 |
noncoding transcript
Transcript: ENSMUST00000124016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145133
|
| 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 |
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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,158,344 (GRCm39) |
|
probably null |
Het |
| Acsbg2 |
T |
C |
17: 57,175,459 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,598,911 (GRCm39) |
V495A |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,338,724 (GRCm39) |
|
probably benign |
Het |
| Bora |
A |
G |
14: 99,290,974 (GRCm39) |
D94G |
probably damaging |
Het |
| Bpifb9b |
G |
T |
2: 154,155,544 (GRCm39) |
V348L |
possibly damaging |
Het |
| Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
| Cyp2d11 |
A |
C |
15: 82,274,265 (GRCm39) |
I372S |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,044,559 (GRCm39) |
V380D |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,037,088 (GRCm39) |
A3580V |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,548 (GRCm39) |
S1024P |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,447,511 (GRCm39) |
E1105K |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,268,908 (GRCm39) |
E415V |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,295,588 (GRCm39) |
F224Y |
probably damaging |
Het |
| Gm11146 |
A |
T |
16: 77,385,498 (GRCm39) |
|
probably null |
Het |
| Gsn |
G |
T |
2: 35,192,507 (GRCm39) |
R485L |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,666,320 (GRCm39) |
Y261C |
probably damaging |
Het |
| Maneal |
A |
T |
4: 124,752,960 (GRCm39) |
I229N |
probably benign |
Het |
| Med24 |
A |
T |
11: 98,619,661 (GRCm39) |
M27K |
probably benign |
Het |
| Nipsnap2 |
T |
A |
5: 129,825,056 (GRCm39) |
|
probably benign |
Het |
| Noa1 |
T |
A |
5: 77,455,426 (GRCm39) |
Q430L |
probably benign |
Het |
| Or1l4 |
C |
A |
2: 37,091,281 (GRCm39) |
S9R |
possibly damaging |
Het |
| Or5d47 |
T |
A |
2: 87,804,754 (GRCm39) |
N85I |
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,908 (GRCm39) |
V208A |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,527 (GRCm39) |
I92V |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,405,529 (GRCm39) |
S460R |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,922 (GRCm39) |
Q826R |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,311,730 (GRCm39) |
I1989N |
probably damaging |
Het |
| Poldip2 |
T |
A |
11: 78,408,734 (GRCm39) |
F200I |
probably damaging |
Het |
| Prodh2 |
T |
C |
7: 30,205,929 (GRCm39) |
V208A |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,553,635 (GRCm39) |
D89G |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,544,015 (GRCm39) |
S90R |
probably damaging |
Het |
| Slc44a4 |
A |
C |
17: 35,147,637 (GRCm39) |
D441A |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,059,014 (GRCm39) |
I174F |
probably damaging |
Het |
| Smim17 |
T |
C |
7: 6,430,160 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,546,760 (GRCm39) |
E872G |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,406,733 (GRCm38) |
L625S |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,695,593 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Zc3h14 |
T |
C |
12: 98,730,154 (GRCm39) |
V399A |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation