Incidental Mutation 'R8334:Whrn'
| ID |
644507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Whrn
|
| Ensembl Gene |
ENSMUSG00000039137 |
| Gene Name |
whirlin |
| Synonyms |
1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik |
| MMRRC Submission |
067862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63333147-63414228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63413047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 142
(V142M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063650]
[ENSMUST00000063672]
[ENSMUST00000084510]
[ENSMUST00000095037]
[ENSMUST00000095038]
[ENSMUST00000102867]
[ENSMUST00000107393]
[ENSMUST00000119294]
[ENSMUST00000133425]
|
| AlphaFold |
Q80VW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063650
AA Change: V142M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: V142M
| 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: V142M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137
AA Change: V142M
| 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: V142M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: V142M
| 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: V142M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: V142M
| 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: V142M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: V142M
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,959,650 (GRCm39) |
S696T |
probably damaging |
Het |
| Abhd12 |
T |
C |
2: 150,700,373 (GRCm39) |
I75V |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,914,225 (GRCm39) |
|
probably null |
Het |
| Ap2a1 |
C |
T |
7: 44,554,135 (GRCm39) |
V499I |
possibly damaging |
Het |
| Arhgef16 |
T |
A |
4: 154,367,224 (GRCm39) |
K394* |
probably null |
Het |
| Armc2 |
A |
G |
10: 41,799,761 (GRCm39) |
F699S |
probably damaging |
Het |
| Atat1 |
C |
T |
17: 36,220,150 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
G |
9: 53,433,573 (GRCm39) |
S226P |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,467,637 (GRCm39) |
T687A |
possibly damaging |
Het |
| Bmp2k |
T |
C |
5: 97,175,753 (GRCm39) |
M78T |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,791 (GRCm39) |
L746H |
probably damaging |
Het |
| Capn8 |
G |
A |
1: 182,438,670 (GRCm39) |
|
probably null |
Het |
| Ccdc154 |
T |
A |
17: 25,390,581 (GRCm39) |
F602I |
probably damaging |
Het |
| Celsr3 |
CGGGG |
CGGGGG |
9: 108,718,471 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
G |
11: 69,241,622 (GRCm39) |
F1504L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,787 (GRCm39) |
N77K |
probably benign |
Het |
| Crybb3 |
T |
A |
5: 113,223,845 (GRCm39) |
Q188L |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,988,805 (GRCm39) |
H3258Q |
probably benign |
Het |
| Dnajb6 |
C |
T |
5: 29,986,238 (GRCm39) |
R269W |
unknown |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,531,248 (GRCm39) |
I279V |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 21,957,170 (GRCm39) |
R1173L |
probably damaging |
Het |
| Ehd4 |
T |
C |
2: 119,967,545 (GRCm39) |
E83G |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,938,777 (GRCm39) |
E544G |
probably benign |
Het |
| Esp23 |
A |
G |
17: 39,384,795 (GRCm39) |
V67A |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,785,857 (GRCm39) |
V726A |
probably damaging |
Het |
| Fbxo39 |
G |
A |
11: 72,208,470 (GRCm39) |
W274* |
probably null |
Het |
| Filip1l |
T |
C |
16: 57,390,510 (GRCm39) |
I366T |
probably benign |
Het |
| Gm4841 |
T |
C |
18: 60,404,054 (GRCm39) |
D13G |
probably benign |
Het |
| Gtpbp2 |
T |
A |
17: 46,477,368 (GRCm39) |
F411Y |
possibly damaging |
Het |
| Kmt5b |
G |
T |
19: 3,864,795 (GRCm39) |
V620L |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,200 (GRCm39) |
Q313R |
probably benign |
Het |
| Lsm1 |
A |
G |
8: 26,292,047 (GRCm39) |
E108G |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,325,901 (GRCm39) |
K5201E |
possibly damaging |
Het |
| Matcap2 |
A |
G |
9: 22,355,414 (GRCm39) |
E483G |
probably benign |
Het |
| Mettl25b |
C |
T |
3: 87,835,056 (GRCm39) |
V31I |
possibly damaging |
Het |
| Mki67 |
G |
T |
7: 135,298,245 (GRCm39) |
T2263K |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,330,756 (GRCm39) |
G1156S |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,274,070 (GRCm39) |
M190K |
probably damaging |
Het |
| Nsmce3 |
A |
G |
7: 64,522,467 (GRCm39) |
V67A |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,882,478 (GRCm39) |
V741A |
probably benign |
Het |
| Olfm3 |
G |
T |
3: 114,916,206 (GRCm39) |
L379F |
probably damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,277 (GRCm39) |
S91P |
probably benign |
Het |
| Or8g21 |
T |
A |
9: 38,905,889 (GRCm39) |
I281F |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,577,853 (GRCm39) |
T744A |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,933,220 (GRCm39) |
T298A |
probably benign |
Het |
| Pou5f2 |
A |
G |
13: 78,173,392 (GRCm39) |
I111M |
probably benign |
Het |
| Pou6f2 |
C |
T |
13: 18,299,991 (GRCm39) |
R556H |
probably damaging |
Het |
| Pramel58 |
T |
G |
5: 94,830,635 (GRCm39) |
N44K |
probably benign |
Het |
| Rcor1 |
G |
A |
12: 111,059,529 (GRCm39) |
A148T |
|
Het |
| Rnh1 |
A |
G |
7: 140,748,544 (GRCm39) |
V11A |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,984,244 (GRCm39) |
F335L |
possibly damaging |
Het |
| Srrm2 |
T |
C |
17: 24,027,330 (GRCm39) |
V22A |
unknown |
Het |
| St7 |
A |
T |
6: 17,934,220 (GRCm39) |
H534L |
probably damaging |
Het |
| Swi5 |
T |
A |
2: 32,170,463 (GRCm39) |
|
probably benign |
Het |
| Syf2 |
T |
A |
4: 134,658,586 (GRCm39) |
H40Q |
probably benign |
Het |
| Tgtp2 |
G |
A |
11: 48,949,721 (GRCm39) |
L284F |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Trbc1 |
A |
C |
6: 41,516,046 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
T |
3: 103,261,145 (GRCm39) |
T1115S |
probably benign |
Het |
| Ttc22 |
C |
A |
4: 106,496,115 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,638,374 (GRCm39) |
A13969T |
probably damaging |
Het |
| Tuba4a |
T |
C |
1: 75,193,945 (GRCm39) |
D74G |
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,795,882 (GRCm39) |
D90E |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,724,397 (GRCm39) |
V37A |
probably damaging |
Het |
| Vmn2r28 |
A |
C |
7: 5,487,059 (GRCm39) |
C535G |
probably damaging |
Het |
| Wdr36 |
A |
G |
18: 32,992,346 (GRCm39) |
T628A |
possibly damaging |
Het |
| Wnk2 |
A |
T |
13: 49,203,958 (GRCm39) |
|
probably null |
Het |
| Xkr7 |
C |
T |
2: 152,896,883 (GRCm39) |
T579I |
probably damaging |
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 |
|
IGL02119:Whrn
|
APN |
4 |
63,353,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGAGATTTATCGTTGACGCG -3'
(R):5'- GTTCACTCACTGCCTCAACG -3'
Sequencing Primer
(F):5'- TATCGTTGACGCGCAGAATC -3'
(R):5'- AACGTCTTCGACCTGGTGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation