Incidental Mutation 'IGL03372:Whrn'
ID 420350
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) question?
Stock # IGL03372
Quality Score
Status
Chromosome 4
Chromosomal Location 63333147-63414228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63336855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 127 (D127G)
Ref Sequence ENSEMBL: ENSMUSP00000114030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063650] [ENSMUST00000084510] [ENSMUST00000095037] [ENSMUST00000095038] [ENSMUST00000102867] [ENSMUST00000107393] [ENSMUST00000119294]
AlphaFold Q80VW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000063650
AA Change: D569G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: D569G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000084510
AA Change: D580G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: D580G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000095037
AA Change: D66G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: D66G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000095038
AA Change: D138G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: D138G

DomainStartEndE-ValueType
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: D569G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: D569G

DomainStartEndE-ValueType
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: D573G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: D573G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000119294
AA Change: D127G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: D127G

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000145133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155058
Predicted Effect probably benign
Transcript: ENSMUST00000145630
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,911,362 (GRCm39) A1161V probably benign Het
Alpi A G 1: 87,028,350 (GRCm39) probably benign Het
Asxl1 A T 2: 153,242,333 (GRCm39) N961I probably damaging Het
Bcl2l10 A G 9: 75,255,329 (GRCm39) I49V probably benign Het
Bod1l T C 5: 41,962,578 (GRCm39) probably benign Het
Ccl20 A G 1: 83,095,597 (GRCm39) M54V probably benign Het
Cep72 A C 13: 74,191,637 (GRCm39) L200V possibly damaging Het
Clic4 T C 4: 134,945,925 (GRCm39) D164G probably damaging Het
Col5a3 G A 9: 20,686,624 (GRCm39) P1334S unknown Het
Dab2 T C 15: 6,459,030 (GRCm39) L293P probably damaging Het
Ddx50 A T 10: 62,479,109 (GRCm39) S140T probably benign Het
Dnah6 A T 6: 73,052,833 (GRCm39) M2897K probably benign Het
Dnmt3a A G 12: 3,952,666 (GRCm39) E721G probably damaging Het
Esyt3 A T 9: 99,218,109 (GRCm39) probably benign Het
Fat4 G T 3: 38,943,283 (GRCm39) K725N possibly damaging Het
Fezf1 T C 6: 23,246,909 (GRCm39) I308V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gapdhs T C 7: 30,432,674 (GRCm39) probably benign Het
Gm10109 A T 7: 43,871,126 (GRCm39) probably benign Het
Gpd2 G A 2: 57,245,519 (GRCm39) V405I probably damaging Het
Gtf2e1 T C 16: 37,356,077 (GRCm39) probably benign Het
Iqca1 A G 1: 90,072,691 (GRCm39) I63T possibly damaging Het
Kcmf1 A C 6: 72,826,546 (GRCm39) L161R probably damaging Het
Kif19a G T 11: 114,670,044 (GRCm39) V80L probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Krtap19-2 A G 16: 88,670,774 (GRCm39) probably benign Het
Ksr2 T A 5: 117,840,783 (GRCm39) I575N possibly damaging Het
L3mbtl1 A T 2: 162,813,077 (GRCm39) probably benign Het
Larp1b A T 3: 40,978,962 (GRCm39) H6L possibly damaging Het
Map4k2 T A 19: 6,392,279 (GRCm39) probably benign Het
Mdh1b T C 1: 63,759,154 (GRCm39) H146R possibly damaging Het
Morc2a T C 11: 3,631,813 (GRCm39) probably benign Het
Mvd A G 8: 123,170,113 (GRCm39) probably benign Het
Myo7b C T 18: 32,131,654 (GRCm39) S514N probably damaging Het
Nav1 A T 1: 135,378,641 (GRCm39) I1610K probably damaging Het
Nbas T C 12: 13,584,473 (GRCm39) L2095P probably damaging Het
Nrros T C 16: 31,963,588 (GRCm39) N115S probably damaging Het
Or5p52 T C 7: 107,502,577 (GRCm39) Y218H probably damaging Het
Otud6b A C 4: 14,812,519 (GRCm39) I276R possibly damaging Het
P2rx6 G A 16: 17,385,356 (GRCm39) E150K probably damaging Het
Pan2 T A 10: 128,150,996 (GRCm39) L771Q probably benign Het
Pbrm1 T A 14: 30,806,976 (GRCm39) N1087K probably benign Het
Pcdhb5 G T 18: 37,453,713 (GRCm39) R31L probably benign Het
Proser3 A C 7: 30,242,993 (GRCm39) S195A probably damaging Het
Rad50 T C 11: 53,586,121 (GRCm39) K292E probably benign Het
Rbm27 G A 18: 42,438,781 (GRCm39) R394H probably damaging Het
Samd9l A G 6: 3,375,314 (GRCm39) I649T probably damaging Het
Skint3 G A 4: 112,113,103 (GRCm39) probably benign Het
Slc4a4 T A 5: 89,304,285 (GRCm39) L576Q probably damaging Het
Snx2 A G 18: 53,349,463 (GRCm39) D408G probably damaging Het
Taar2 T C 10: 23,817,069 (GRCm39) V203A probably benign Het
Tdrd6 C T 17: 43,936,459 (GRCm39) V1530M probably damaging Het
Tsc2 A C 17: 24,838,444 (GRCm39) L515R probably damaging Het
Unc13a A T 8: 72,108,353 (GRCm39) M500K probably damaging Het
Vmn1r75 A G 7: 11,614,496 (GRCm39) D76G probably benign Het
Other mutations in Whrn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-08-02