Incidental Mutation 'R5847:Wwc1'
ID 453687
Institutional Source Beutler Lab
Gene Symbol Wwc1
Ensembl Gene ENSMUSG00000018849
Gene Name WW, C2 and coiled-coil domain containing 1
Synonyms Kibra
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 35729227-35871354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35758153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 731 (F731S)
Ref Sequence ENSEMBL: ENSMUSP00000018993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018993]
AlphaFold Q5SXA9
Predicted Effect probably damaging
Transcript: ENSMUST00000018993
AA Change: F731S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: F731S

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
Meta Mutation Damage Score 0.9201 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R 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
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
R6516:Wwc1 UTSW 11 35,758,129 (GRCm39) missense probably benign 0.05
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'- GCGAGCTGGTTGCAAAC -3'
(R):5'- GCACTCTCTCCTTCCCAGCTG -3'
Posted On 2017-02-10