Incidental Mutation 'R6516:Wwc1'
ID 520729
Institutional Source Beutler Lab
Gene Symbol Wwc1
Ensembl Gene ENSMUSG00000018849
Gene Name WW, C2 and coiled-coil domain containing 1
Synonyms Kibra
MMRRC Submission 044643-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6516 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 35729227-35871354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35758129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 739 (A739V)
Ref Sequence ENSEMBL: ENSMUSP00000018993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018993]
AlphaFold Q5SXA9
Predicted Effect probably benign
Transcript: ENSMUST00000018993
AA Change: A739V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: A739V

DomainStartEndE-ValueType
WW 7 39 7.96e-12 SMART
WW 54 86 5.22e-7 SMART
coiled coil region 107 133 N/A INTRINSIC
low complexity region 139 153 N/A INTRINSIC
coiled coil region 158 193 N/A INTRINSIC
low complexity region 255 270 N/A INTRINSIC
coiled coil region 294 330 N/A INTRINSIC
low complexity region 341 353 N/A INTRINSIC
coiled coil region 360 431 N/A INTRINSIC
low complexity region 527 549 N/A INTRINSIC
low complexity region 645 657 N/A INTRINSIC
Pfam:C2 674 784 8.3e-7 PFAM
low complexity region 842 860 N/A INTRINSIC
coiled coil region 994 1024 N/A INTRINSIC
low complexity region 1026 1040 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127086
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired adult synaptic plasticity and fear-based conditioning. [provided by MGI curators]
Allele List at MGI

All alleles(11) : Targeted(1) Gene trapped(10

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik A T 1: 161,780,235 (GRCm39) V93E probably benign Het
Adam18 A G 8: 25,164,703 (GRCm39) L4P probably damaging Het
Adcy8 A T 15: 64,571,236 (GRCm39) Y1136N probably damaging Het
Adgrl3 A G 5: 81,613,119 (GRCm39) Y184C probably damaging Het
Ankrd6 G A 4: 32,836,427 (GRCm39) R43W probably damaging Het
Ano8 G T 8: 71,934,424 (GRCm39) probably null Het
Arhgap31 A G 16: 38,429,766 (GRCm39) F370L possibly damaging Het
C7 A G 15: 5,086,563 (GRCm39) V26A probably damaging Het
Cimap1a G A 7: 140,428,718 (GRCm39) G128S probably damaging Het
Clec4a2 C A 6: 123,116,365 (GRCm39) Q153K probably damaging Het
Cyp2c67 T A 19: 39,605,873 (GRCm39) D341V probably damaging Het
Ddo T A 10: 40,507,741 (GRCm39) V46E probably damaging Het
Deup1 A C 9: 15,521,910 (GRCm39) M85R probably damaging Het
Dmxl2 A T 9: 54,323,960 (GRCm39) S1141R probably damaging Het
Dnah2 A G 11: 69,356,212 (GRCm39) F2147L probably benign Het
Dock10 T C 1: 80,518,178 (GRCm39) E1298G probably damaging Het
Dock4 T A 12: 40,781,898 (GRCm39) V701E possibly damaging Het
Dthd1 A T 5: 62,996,607 (GRCm39) K447N probably benign Het
Eno2 G T 6: 124,738,672 (GRCm39) probably null Het
Fastkd5 T A 2: 130,456,221 (GRCm39) T790S possibly damaging Het
Fer1l4 C T 2: 155,877,119 (GRCm39) V1139M probably damaging Het
Gpbp1 A T 13: 111,589,636 (GRCm39) H111Q probably benign Het
Grk3 A T 5: 113,109,415 (GRCm39) probably benign Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kcnc2 A G 10: 112,297,905 (GRCm39) T610A probably benign Het
Kcnh1 T A 1: 192,101,089 (GRCm39) D560E possibly damaging Het
Klc4 A T 17: 46,953,181 (GRCm39) N116K probably damaging Het
Krba1 C T 6: 48,390,206 (GRCm39) Q656* probably null Het
Mchr1 A G 15: 81,122,069 (GRCm39) Y273C probably damaging Het
Myh15 T A 16: 48,957,996 (GRCm39) C938S probably benign Het
Nutm1 T C 2: 112,081,562 (GRCm39) E367G probably damaging Het
Or10a3n A T 7: 108,492,972 (GRCm39) I214K probably damaging Het
Or4e2 A T 14: 52,688,586 (GRCm39) T239S probably damaging Het
Or5w18 A T 2: 87,633,114 (GRCm39) Y127F possibly damaging Het
Or8b48 A G 9: 38,492,768 (GRCm39) N65S probably damaging Het
Pikfyve G T 1: 65,304,940 (GRCm39) M1697I probably benign Het
Plcd1 A G 9: 118,905,271 (GRCm39) S147P probably damaging Het
Plin3 G A 17: 56,593,223 (GRCm39) P113L probably damaging Het
Pum3 C A 19: 27,403,408 (GRCm39) S31I probably benign Het
Robo1 T C 16: 72,821,241 (GRCm39) V1327A probably benign Het
Rpl15-ps6 A G 15: 52,341,200 (GRCm39) noncoding transcript Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Scnn1b T C 7: 121,511,335 (GRCm39) S341P probably damaging Het
Sh3bp5 A T 14: 31,097,629 (GRCm39) M362K possibly damaging Het
Slc24a5 A G 2: 124,930,027 (GRCm39) T443A probably benign Het
Slc25a12 T C 2: 71,154,427 (GRCm39) Y81C probably damaging Het
Slc43a3 A G 2: 84,788,105 (GRCm39) T496A probably benign Het
Smap2 C T 4: 120,840,303 (GRCm39) probably null Het
Sptbn5 T A 2: 119,878,431 (GRCm39) probably benign Het
Taar5 A G 10: 23,847,564 (GRCm39) S321G possibly damaging Het
Tbx21 T C 11: 96,990,782 (GRCm39) I299V possibly damaging Het
Tcerg1 T C 18: 42,663,957 (GRCm39) probably null Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Tmem176a T G 6: 48,821,002 (GRCm39) probably null Het
Tmem236 T C 2: 14,200,791 (GRCm39) S119P probably benign Het
Tmprss11a C T 5: 86,567,987 (GRCm39) V247M probably damaging Het
Tnks1bp1 T C 2: 84,901,071 (GRCm39) S1593P probably damaging Het
Ttc9b T A 7: 27,355,412 (GRCm39) D227E probably benign Het
Usp33 A C 3: 152,079,053 (GRCm39) Q435P probably benign Het
Vti1a C T 19: 55,369,390 (GRCm39) A94V probably damaging Het
Wdr3 A G 3: 100,052,992 (GRCm39) Y587H probably damaging Het
Zfp628 C G 7: 4,923,201 (GRCm39) Y474* probably null Het
Zfp820 A T 17: 22,038,354 (GRCm39) C325S probably damaging Het
Other mutations in Wwc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Wwc1 APN 11 35,735,029 (GRCm39) missense possibly damaging 0.82
IGL01161:Wwc1 APN 11 35,758,103 (GRCm39) missense probably damaging 1.00
IGL01401:Wwc1 APN 11 35,789,445 (GRCm39) critical splice donor site probably null
IGL01771:Wwc1 APN 11 35,744,185 (GRCm39) critical splice donor site probably null
IGL01804:Wwc1 APN 11 35,732,751 (GRCm39) missense probably damaging 1.00
IGL02079:Wwc1 APN 11 35,766,885 (GRCm39) missense probably damaging 1.00
IGL02201:Wwc1 APN 11 35,734,978 (GRCm39) splice site probably benign
IGL03376:Wwc1 APN 11 35,743,121 (GRCm39) missense possibly damaging 0.80
IGL03403:Wwc1 APN 11 35,806,111 (GRCm39) missense possibly damaging 0.94
BB002:Wwc1 UTSW 11 35,734,990 (GRCm39) missense probably benign 0.00
BB012:Wwc1 UTSW 11 35,734,990 (GRCm39) missense probably benign 0.00
P0008:Wwc1 UTSW 11 35,744,178 (GRCm39) splice site probably benign
R0277:Wwc1 UTSW 11 35,743,175 (GRCm39) missense probably damaging 0.99
R0321:Wwc1 UTSW 11 35,732,637 (GRCm39) nonsense probably null
R0323:Wwc1 UTSW 11 35,743,175 (GRCm39) missense probably damaging 0.99
R0629:Wwc1 UTSW 11 35,744,299 (GRCm39) missense probably benign 0.18
R1302:Wwc1 UTSW 11 35,734,984 (GRCm39) missense probably damaging 1.00
R1769:Wwc1 UTSW 11 35,752,671 (GRCm39) missense probably benign
R1870:Wwc1 UTSW 11 35,752,772 (GRCm39) missense probably damaging 1.00
R2000:Wwc1 UTSW 11 35,767,374 (GRCm39) missense probably damaging 1.00
R2074:Wwc1 UTSW 11 35,780,180 (GRCm39) missense possibly damaging 0.62
R2138:Wwc1 UTSW 11 35,732,714 (GRCm39) missense possibly damaging 0.47
R2140:Wwc1 UTSW 11 35,761,355 (GRCm39) missense probably benign 0.01
R2680:Wwc1 UTSW 11 35,766,756 (GRCm39) missense probably benign 0.23
R3864:Wwc1 UTSW 11 35,801,143 (GRCm39) missense probably damaging 1.00
R4773:Wwc1 UTSW 11 35,758,123 (GRCm39) missense probably benign
R4926:Wwc1 UTSW 11 35,780,227 (GRCm39) missense probably benign 0.17
R4980:Wwc1 UTSW 11 35,778,930 (GRCm39) missense possibly damaging 0.93
R4990:Wwc1 UTSW 11 35,767,393 (GRCm39) missense probably benign 0.00
R5044:Wwc1 UTSW 11 35,774,172 (GRCm39) missense probably benign 0.45
R5238:Wwc1 UTSW 11 35,766,723 (GRCm39) missense probably benign 0.02
R5421:Wwc1 UTSW 11 35,766,890 (GRCm39) missense possibly damaging 0.81
R5421:Wwc1 UTSW 11 35,801,123 (GRCm39) missense possibly damaging 0.93
R5461:Wwc1 UTSW 11 35,758,199 (GRCm39) missense probably damaging 1.00
R5705:Wwc1 UTSW 11 35,767,423 (GRCm39) missense probably damaging 0.99
R5847:Wwc1 UTSW 11 35,758,153 (GRCm39) missense probably damaging 1.00
R5993:Wwc1 UTSW 11 35,743,163 (GRCm39) missense probably benign 0.17
R6006:Wwc1 UTSW 11 35,780,100 (GRCm39) missense probably damaging 0.98
R6006:Wwc1 UTSW 11 35,761,809 (GRCm39) missense probably null 1.00
R6519:Wwc1 UTSW 11 35,744,264 (GRCm39) missense probably benign 0.04
R6520:Wwc1 UTSW 11 35,744,264 (GRCm39) missense probably benign 0.04
R6525:Wwc1 UTSW 11 35,744,264 (GRCm39) missense probably benign 0.04
R6526:Wwc1 UTSW 11 35,744,264 (GRCm39) missense probably benign 0.04
R6527:Wwc1 UTSW 11 35,744,264 (GRCm39) missense probably benign 0.04
R6528:Wwc1 UTSW 11 35,744,264 (GRCm39) missense probably benign 0.04
R7060:Wwc1 UTSW 11 35,806,003 (GRCm39) missense possibly damaging 0.74
R7156:Wwc1 UTSW 11 35,788,201 (GRCm39) critical splice donor site probably null
R7448:Wwc1 UTSW 11 35,766,533 (GRCm39) missense probably benign
R7586:Wwc1 UTSW 11 35,735,022 (GRCm39) missense possibly damaging 0.69
R7793:Wwc1 UTSW 11 35,759,936 (GRCm39) missense probably benign 0.21
R7925:Wwc1 UTSW 11 35,734,990 (GRCm39) missense probably benign 0.00
R8296:Wwc1 UTSW 11 35,761,384 (GRCm39) splice site probably benign
R8369:Wwc1 UTSW 11 35,758,198 (GRCm39) missense probably damaging 1.00
R8735:Wwc1 UTSW 11 35,774,234 (GRCm39) missense probably damaging 1.00
R8804:Wwc1 UTSW 11 35,774,144 (GRCm39) missense probably benign 0.30
R9081:Wwc1 UTSW 11 35,782,331 (GRCm39) missense probably benign 0.12
R9281:Wwc1 UTSW 11 35,780,211 (GRCm39) missense probably benign 0.03
R9561:Wwc1 UTSW 11 35,870,796 (GRCm39) critical splice donor site probably null
R9619:Wwc1 UTSW 11 35,766,779 (GRCm39) missense probably damaging 0.98
R9713:Wwc1 UTSW 11 35,766,576 (GRCm39) missense probably benign 0.33
X0025:Wwc1 UTSW 11 35,766,867 (GRCm39) missense possibly damaging 0.95
Z1088:Wwc1 UTSW 11 35,774,309 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- CTCAAAGCTTGTGGAGGCTG -3'
(R):5'- ATAAGACGTTCTGCACTCTCTC -3'

Sequencing Primer
(F):5'- GAGGCGAGCTGGTTGCAAAC -3'
(R):5'- GGATCTCTGTAATAGGTCAGCCC -3'
Posted On 2018-06-06