Incidental Mutation 'R4241:Whrn'
ID 320208
Institutional Source Beutler Lab
Gene Symbol Whrn
Ensembl Gene ENSMUSG00000039137
Gene Name whirlin
Synonyms 1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik
MMRRC Submission 041058-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4241 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 63333147-63414228 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 63351210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000063650] [ENSMUST00000063672] [ENSMUST00000084510] [ENSMUST00000095037] [ENSMUST00000095038] [ENSMUST00000102867] [ENSMUST00000119294] [ENSMUST00000107393]
AlphaFold Q80VW5
Predicted Effect probably benign
Transcript: ENSMUST00000063650
SMART Domains Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137

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 probably benign
Transcript: ENSMUST00000063672
SMART Domains Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137

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
Predicted Effect probably benign
Transcript: ENSMUST00000084510
SMART Domains Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137

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 benign
Transcript: ENSMUST00000095037
SMART Domains Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137

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 probably benign
Transcript: ENSMUST00000095038
SMART Domains Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137

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
SMART Domains Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137

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 noncoding transcript
Transcript: ENSMUST00000155058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153307
Predicted Effect probably benign
Transcript: ENSMUST00000144965
SMART Domains Protein: ENSMUSP00000121944
Gene: ENSMUSG00000039137

DomainStartEndE-ValueType
PDB:1UF1|A 16 74 7e-33 PDB
SCOP:d1lcya1 32 74 1e-7 SMART
Blast:PDZ 40 74 5e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000119294
SMART Domains Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137

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 probably benign
Transcript: ENSMUST00000145630
Predicted Effect probably benign
Transcript: ENSMUST00000107393
SMART Domains Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (49/50)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,548,497 (GRCm39) probably benign Het
Ap5b1 C T 19: 5,618,825 (GRCm39) L82F possibly damaging Het
Arfgef3 A G 10: 18,500,912 (GRCm39) S1113P probably damaging Het
Atoh1 A C 6: 64,706,758 (GRCm39) N151T probably damaging Het
Bcas3 T A 11: 85,361,652 (GRCm39) S25R probably damaging Het
Blcap T A 2: 157,402,343 (GRCm39) probably benign Het
Btbd6 C T 12: 112,940,416 (GRCm39) A13V probably benign Het
Ccdc83 A C 7: 89,896,346 (GRCm39) N74K probably damaging Het
Cdh9 A G 15: 16,849,165 (GRCm39) probably null Het
Chd1 C T 17: 15,990,289 (GRCm39) R1614* probably null Het
Col16a1 G T 4: 129,992,843 (GRCm39) Q1567H probably damaging Het
Coq6 A T 12: 84,420,563 (GRCm39) probably benign Het
Cpd T C 11: 76,737,611 (GRCm39) D61G probably benign Het
Csnk1e A G 15: 79,309,095 (GRCm39) F277S probably damaging Het
Cyp2d41-ps T A 15: 82,663,787 (GRCm39) noncoding transcript Het
Dbt T C 3: 116,326,945 (GRCm39) I98T probably damaging Het
Eif3e G A 15: 43,126,086 (GRCm39) T287I probably damaging Het
Fcgbpl1 A G 7: 27,853,760 (GRCm39) S1575G probably damaging Het
Gm7135 A G 1: 97,281,678 (GRCm39) noncoding transcript Het
Gpr176 A T 2: 118,110,091 (GRCm39) S389R probably benign Het
Hax1 A G 3: 89,902,997 (GRCm39) S257P probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Ighv1-53 C T 12: 115,122,442 (GRCm39) C5Y probably benign Het
Klhl13 T A X: 23,181,414 (GRCm39) D2V probably damaging Het
Kynu A T 2: 43,571,422 (GRCm39) H446L probably benign Het
Lingo1 A G 9: 56,527,386 (GRCm39) F401S probably damaging Het
Lmbrd1 C T 1: 24,732,049 (GRCm39) Q89* probably null Het
Mov10 T A 3: 104,704,592 (GRCm39) Q773L probably benign Het
Or52e19 G T 7: 102,959,868 (GRCm39) *313Y probably null Het
Or7c70 T A 10: 78,683,739 (GRCm39) R3S probably benign Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Peli3 T C 19: 4,982,426 (GRCm39) H413R probably damaging Het
Pkdrej C T 15: 85,702,345 (GRCm39) R1197Q probably damaging Het
Rcan2 T A 17: 44,264,370 (GRCm39) V10D probably benign Het
Slc10a5 A G 3: 10,400,520 (GRCm39) S47P probably damaging Het
Sprr3 A G 3: 92,364,214 (GRCm39) V210A possibly damaging Het
Tcerg1l G T 7: 137,999,361 (GRCm39) Q8K unknown Het
Ubfd1 T C 7: 121,670,977 (GRCm39) V265A possibly damaging Het
Ubr1 T C 2: 120,764,867 (GRCm39) D529G possibly damaging Het
Vmn1r180 A T 7: 23,652,298 (GRCm39) I154F probably damaging Het
Vmn1r237 A G 17: 21,534,925 (GRCm39) H216R possibly damaging Het
Zfr T G 15: 12,149,745 (GRCm39) D388E probably damaging Het
Zic5 T C 14: 122,702,075 (GRCm39) I219V probably benign Het
Zmat5 A G 11: 4,678,614 (GRCm39) N53D 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGCAGTGCACGAGTCTGATTC -3'
(R):5'- ATCAGCTGGTCAGTGGTGAG -3'

Sequencing Primer
(F):5'- TGCACGAGTCTGATTCCCCAG -3'
(R):5'- GACACCGGTATAATTTGGCAC -3'
Posted On 2015-06-12