Incidental Mutation 'R5463:Whrn'
| ID |
433091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Whrn
|
| Ensembl Gene |
ENSMUSG00000039137 |
| Gene Name |
whirlin |
| Synonyms |
C430046P22Rik, Dfnb31, wi, 1110035G07Rik |
| MMRRC Submission |
043025-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5463 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
63414910-63495991 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63432816 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 427
(T427I)
|
| 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 benign
Transcript: ENSMUST00000063650
AA Change: T423I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: T423I
| 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: T423I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137
AA Change: T423I
| 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
AA Change: T423I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: T423I
| 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
AA Change: T423I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: T423I
| 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
AA Change: T427I
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: T427I
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155058
|
| Coding Region Coverage |
- 1x: 99.2%
- 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
C |
10: 115,570,199 |
|
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,988,551 |
S71T |
possibly damaging |
Het |
| BC048507 |
T |
C |
13: 67,863,698 |
Y65H |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,211,720 |
E1221G |
probably benign |
Het |
| Calb1 |
G |
T |
4: 15,885,656 |
V76L |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 44,003,693 |
K500* |
probably null |
Het |
| Csmd1 |
G |
A |
8: 15,984,860 |
T2437I |
probably benign |
Het |
| Cyp27b1 |
G |
A |
10: 127,052,097 |
V493I |
possibly damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,803,744 |
T29S |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,469,260 |
V624A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,092,157 |
I2464V |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,809,958 |
|
probably null |
Het |
| Erap1 |
C |
T |
13: 74,646,414 |
T64I |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,570,079 |
Y1156* |
probably null |
Het |
| Fam168a |
G |
A |
7: 100,835,395 |
A231T |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,235,077 |
P208L |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,291,069 |
Y512H |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 40,918,174 |
I98F |
possibly damaging |
Het |
| Got1 |
G |
A |
19: 43,504,597 |
T295I |
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,194,262 |
E3538G |
probably damaging |
Het |
| Kcnmb4 |
A |
T |
10: 116,473,505 |
V6E |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,852,109 |
|
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,469,128 |
A2V |
probably damaging |
Het |
| Lynx1 |
G |
T |
15: 74,751,613 |
Y28* |
probably null |
Het |
| Mast1 |
T |
C |
8: 84,925,507 |
E304G |
probably damaging |
Het |
| Nipa1 |
G |
A |
7: 55,979,457 |
Q303* |
probably null |
Het |
| Nomo1 |
G |
A |
7: 46,063,002 |
R657H |
possibly damaging |
Het |
| Olfr66 |
C |
T |
7: 103,881,334 |
R303H |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 36,975,575 |
L551Q |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,648,731 |
Y267H |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,734,736 |
D223G |
probably damaging |
Het |
| Prph |
G |
A |
15: 99,055,400 |
G65D |
probably benign |
Het |
| Pskh1 |
T |
C |
8: 105,912,832 |
L48P |
probably benign |
Het |
| Ptdss1 |
C |
A |
13: 66,945,301 |
N68K |
probably damaging |
Het |
| Rexo5 |
G |
A |
7: 119,834,303 |
G495R |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 29,024,023 |
A4204S |
possibly damaging |
Het |
| Serpinb9 |
G |
A |
13: 33,015,676 |
S318N |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,609,274 |
R383H |
probably benign |
Het |
| Trim26 |
A |
G |
17: 36,851,124 |
H145R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,831,890 |
Y286* |
probably null |
Het |
| Vmn1r181 |
A |
G |
7: 23,984,362 |
N84S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 33,151,732 |
Q207K |
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 |
|
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 |
|
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'- GGCTGAGGTCCTTTGTAACAGG -3'
(R):5'- AAAGTGCCACGGAGATGACC -3'
Sequencing Primer
(F):5'- CCTTTGTAACAGGGTAGGGAC -3'
(R):5'- TGCCACGGAGATGACCACATG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation