Incidental Mutation 'R1870:Wwc1'
ID 210670
Institutional Source Beutler Lab
Gene Symbol Wwc1
Ensembl Gene ENSMUSG00000018849
Gene Name WW, C2 and coiled-coil domain containing 1
Synonyms Kibra
MMRRC Submission 039892-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1870 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 35729227-35871354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35752772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 763 (G763D)
Ref Sequence ENSEMBL: ENSMUSP00000018993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018993]
AlphaFold Q5SXA9
Predicted Effect probably damaging
Transcript: ENSMUST00000018993
AA Change: G763D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: G763D

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
Meta Mutation Damage Score 0.1783 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 97% (96/99)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abca5 C A 11: 110,220,043 (GRCm39) V8L probably benign Het
Abcc8 C T 7: 45,773,339 (GRCm39) E797K probably benign Het
Acd C A 8: 106,425,039 (GRCm39) probably null Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Antxr2 A T 5: 98,178,297 (GRCm39) S38T probably damaging Het
Aox1 A G 1: 58,115,262 (GRCm39) E749G probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Bcan T C 3: 87,902,908 (GRCm39) Y290C probably damaging Het
Bod1l G A 5: 41,991,018 (GRCm39) S179F possibly damaging Het
Catsper3 A C 13: 55,953,561 (GRCm39) D224A probably damaging Het
Ccar2 A G 14: 70,377,946 (GRCm39) S680P probably damaging Het
Ccdc18 A G 5: 108,368,703 (GRCm39) H1275R possibly damaging Het
Ccdc40 T C 11: 119,150,730 (GRCm39) M1011T possibly damaging Het
Cfap46 T A 7: 139,263,386 (GRCm39) D17V probably damaging Het
Csn1s2a T C 5: 87,926,058 (GRCm39) F45L probably benign Het
Cwf19l2 T G 9: 3,458,802 (GRCm39) N750K possibly damaging Het
Cyb5r4 A G 9: 86,922,462 (GRCm39) D157G probably benign Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dennd4a C T 9: 64,804,516 (GRCm39) A1285V probably benign Het
Dlat A G 9: 50,548,874 (GRCm39) S561P probably damaging Het
Dlgap2 T A 8: 14,823,347 (GRCm39) V522E probably damaging Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Dnase2a T C 8: 85,635,392 (GRCm39) probably benign Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Fam83f T C 15: 80,574,113 (GRCm39) probably benign Het
Firrm G A 1: 163,792,363 (GRCm39) L545F probably damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Galk2 T C 2: 125,817,183 (GRCm39) L324P probably benign Het
Gdpd4 G A 7: 97,622,162 (GRCm39) V214I probably benign Het
Gfra3 C T 18: 34,844,373 (GRCm39) A56T probably damaging Het
Glyctk A G 9: 106,032,547 (GRCm39) S489P probably damaging Het
Izumo4 A T 10: 80,539,569 (GRCm39) I135F probably damaging Het
Krt87 T A 15: 101,385,071 (GRCm39) T342S probably benign Het
L1td1 T A 4: 98,625,714 (GRCm39) D636E possibly damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lpin1 A G 12: 16,591,744 (GRCm39) F828L probably damaging Het
Lrrc37 T C 11: 103,511,431 (GRCm39) D179G unknown Het
Mdn1 T A 4: 32,763,339 (GRCm39) D5146E probably damaging Het
Megf10 T A 18: 57,324,257 (GRCm39) Y99* probably null Het
Men1 A G 19: 6,387,660 (GRCm39) D285G probably damaging Het
Mertk T G 2: 128,643,116 (GRCm39) D838E probably benign Het
Mta1 T C 12: 113,091,694 (GRCm39) S266P possibly damaging Het
Mta3 G A 17: 84,089,397 (GRCm39) V320M probably damaging Het
Nlrp9c G A 7: 26,084,245 (GRCm39) Q445* probably null Het
Or2m12 A T 16: 19,105,357 (GRCm39) N45K probably damaging Het
Or51e1 T C 7: 102,358,961 (GRCm39) I165T possibly damaging Het
Or8b38 A T 9: 37,972,646 (GRCm39) K10I probably benign Het
Or8d6 T G 9: 39,854,117 (GRCm39) I187R probably damaging Het
Pbrm1 T A 14: 30,828,132 (GRCm39) L1320I probably damaging Het
Pdzd2 G T 15: 12,457,972 (GRCm39) T297K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Pik3c3 T C 18: 30,426,185 (GRCm39) probably null Het
Pira2 T C 7: 3,847,452 (GRCm39) N79S probably damaging Het
Pkdrej G T 15: 85,700,632 (GRCm39) T1768K probably damaging Het
Plcb3 T C 19: 6,940,353 (GRCm39) I439V probably benign Het
Pold4 T A 19: 4,282,593 (GRCm39) Y58* probably null Het
Ppef2 T G 5: 92,398,371 (GRCm39) Q49P probably damaging Het
Ralgapa1 T A 12: 55,723,817 (GRCm39) I2026F possibly damaging Het
Rest T A 5: 77,416,209 (GRCm39) V141E possibly damaging Het
Rnf139 T C 15: 58,771,202 (GRCm39) V409A probably benign Het
Rnpc3 T C 3: 113,404,704 (GRCm39) probably benign Het
S100a10 A T 3: 93,468,377 (GRCm39) E36V probably benign Het
S1pr3 A C 13: 51,573,952 (GRCm39) K378Q probably benign Het
Scaper T A 9: 55,593,222 (GRCm39) I472F probably damaging Het
Sgcg G A 14: 61,477,896 (GRCm39) probably benign Het
Shank1 A T 7: 43,991,539 (GRCm39) R69* probably null Het
Shoc1 G A 4: 59,054,142 (GRCm39) probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc25a54 T A 3: 108,987,932 (GRCm39) Y24* probably null Het
Slc29a4 T C 5: 142,707,243 (GRCm39) *529R probably null Het
Slc41a2 G A 10: 83,137,029 (GRCm39) Q293* probably null Het
Slc4a7 T C 14: 14,737,509 (GRCm38) probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Ssr2 T C 3: 88,483,949 (GRCm39) probably benign Het
Tecrl T A 5: 83,502,706 (GRCm39) T33S probably benign Het
Tnfrsf9 T A 4: 151,018,804 (GRCm39) C158* probably null Het
Tradd T C 8: 105,985,792 (GRCm39) E253G possibly damaging Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r27 T C 6: 124,201,170 (GRCm39) I262M probably benign Het
Vps13a A G 19: 16,737,316 (GRCm39) V91A probably damaging Het
Vwf C T 6: 125,619,902 (GRCm39) R1527C probably damaging Het
Zfp526 T G 7: 24,924,594 (GRCm39) D284E possibly damaging Het
Zfp646 T C 7: 127,483,021 (GRCm39) F1733L possibly damaging Het
Zfp90 A G 8: 107,145,755 (GRCm39) H29R probably benign Het
Zkscan4 A G 13: 21,668,104 (GRCm39) E185G probably benign 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
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 35,801,123 (GRCm39) missense possibly damaging 0.93
R5421:Wwc1 UTSW 11 35,766,890 (GRCm39) missense possibly damaging 0.81
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
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'- ATGTTGCCCGCAATCAGTTC -3'
(R):5'- CTAGCACTGGAGGAGTATCAACAAG -3'

Sequencing Primer
(F):5'- GCAATCAGTTCACTTAGCGC -3'
(R):5'- TCTTCAACCAAGTTTGAGGCCAG -3'
Posted On 2014-06-30