Incidental Mutation 'R6525:Wwc1'
ID 521729
Institutional Source Beutler Lab
Gene Symbol Wwc1
Ensembl Gene ENSMUSG00000018849
Gene Name WW, C2 and coiled-coil domain containing 1
Synonyms Kibra
MMRRC Submission 044651-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6525 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 35729227-35871354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35744264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 853 (E853K)
Ref Sequence ENSEMBL: ENSMUSP00000018993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018993]
AlphaFold Q5SXA9
Predicted Effect probably benign
Transcript: ENSMUST00000018993
AA Change: E853K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: E853K

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: ENSMUST00000131001
Meta Mutation Damage Score 0.0646 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.0%
Validation Efficiency 96% (71/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,931,308 (GRCm39) E1447G probably benign Het
Acss2 A G 2: 155,392,337 (GRCm39) N261S probably benign Het
Adcy8 C A 15: 64,609,243 (GRCm39) G859* probably null Het
Agbl3 A T 6: 34,780,529 (GRCm39) K496* probably null Het
Antxrl A T 14: 33,782,363 (GRCm39) D182V probably damaging Het
Arid5b A G 10: 67,933,496 (GRCm39) L559P possibly damaging Het
Azi2 T A 9: 117,876,663 (GRCm39) S60T probably damaging Het
Bahcc1 T C 11: 120,176,048 (GRCm39) Y1931H probably damaging Het
Cnga1 T A 5: 72,775,574 (GRCm39) E49V probably damaging Het
Col3a1 A G 1: 45,386,339 (GRCm39) N160D possibly damaging Het
Crem C A 18: 3,268,070 (GRCm39) R267L probably damaging Het
Ddx52 T C 11: 83,844,145 (GRCm39) probably null Het
Ddx6 T C 9: 44,534,926 (GRCm39) I127T probably damaging Het
Dop1b T A 16: 93,606,304 (GRCm39) Y2094N probably damaging Het
Dst C A 1: 34,202,216 (GRCm39) N181K probably damaging Het
Dusp7 A G 9: 106,246,483 (GRCm39) K163E possibly damaging Het
Dynlt1a T A 17: 6,362,014 (GRCm39) T55S probably benign Het
Enpp2 T C 15: 54,733,607 (GRCm39) N451S probably benign Het
Faap100 C A 11: 120,269,590 (GRCm39) probably null Het
Fam53a T C 5: 33,765,262 (GRCm39) N148S probably damaging Het
Fat2 T C 11: 55,174,626 (GRCm39) D2029G probably damaging Het
Flcn A T 11: 59,684,998 (GRCm39) N484K possibly damaging Het
Gbp10 T A 5: 105,383,950 (GRCm39) E17D probably benign Het
Gm14226 T C 2: 154,867,003 (GRCm39) V320A possibly damaging Het
Gna13 T C 11: 109,286,765 (GRCm39) I196T probably damaging Het
Gorasp1 G T 9: 119,757,061 (GRCm39) P374T possibly damaging Het
Hc T C 2: 34,881,236 (GRCm39) D1461G probably benign Het
Hmcn1 T C 1: 150,573,317 (GRCm39) N2111D probably damaging Het
Hs3st3b1 G A 11: 63,812,424 (GRCm39) S97L probably benign Het
Hsdl2 A G 4: 59,612,696 (GRCm39) T296A probably damaging Het
Impg2 A G 16: 56,025,512 (GRCm39) D48G probably damaging Het
Kbtbd12 A T 6: 88,591,062 (GRCm39) N383K probably benign Het
Kcnj12 T G 11: 60,960,397 (GRCm39) F232V probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Homo
Ldhb T C 6: 142,436,191 (GRCm39) D326G probably benign Het
Lrrc49 A G 9: 60,505,432 (GRCm39) L607S probably damaging Het
Ltn1 A G 16: 87,217,074 (GRCm39) S388P probably damaging Het
Mansc4 A G 6: 146,976,645 (GRCm39) S324P probably benign Het
Meltf G A 16: 31,707,717 (GRCm39) W368* probably null Het
Nacad A G 11: 6,552,255 (GRCm39) L312P probably damaging Het
Ndc1 G T 4: 107,225,304 (GRCm39) G7W probably benign Het
Nmral1 T A 16: 4,532,296 (GRCm39) K172* probably null Het
Nol9 G T 4: 152,123,906 (GRCm39) R32L probably damaging Het
Nsun5 A G 5: 135,403,912 (GRCm39) Y296C probably damaging Het
Or4k51 C T 2: 111,585,329 (GRCm39) T245I probably benign Het
Oscp1 A G 4: 125,970,571 (GRCm39) D120G possibly damaging Het
Parp14 C T 16: 35,680,811 (GRCm39) C274Y probably benign Het
Pced1b T A 15: 97,282,679 (GRCm39) H239Q possibly damaging Het
Pgap1 T C 1: 54,521,048 (GRCm39) I865V probably benign Het
Ppp6r3 T A 19: 3,543,936 (GRCm39) S360C probably damaging Het
Prb1a A G 6: 132,184,467 (GRCm39) S389P unknown Het
Prr16 T G 18: 51,436,227 (GRCm39) S235R probably benign Het
Rab11fip1 T C 8: 27,646,527 (GRCm39) N183S probably benign Het
Rcn1 A G 2: 105,219,320 (GRCm39) probably null Het
Rimkla C A 4: 119,325,288 (GRCm39) A374S probably benign Het
Skint8 A T 4: 111,785,935 (GRCm39) D127V probably damaging Het
Slc12a6 A G 2: 112,182,796 (GRCm39) K724E probably damaging Het
Slc13a3 T C 2: 165,248,667 (GRCm39) N537S unknown Het
Slc26a5 T C 5: 22,025,348 (GRCm39) D457G possibly damaging Het
Slx4ip T C 2: 136,842,138 (GRCm39) V21A possibly damaging Het
Stt3b A G 9: 115,087,626 (GRCm39) Y291H probably damaging Het
Syn3 G A 10: 86,302,916 (GRCm39) P80S probably damaging Het
Tasor2 G A 13: 3,626,540 (GRCm39) Q455* probably null Het
Tiam1 A T 16: 89,655,485 (GRCm39) probably null Het
Tjp1 T C 7: 64,993,399 (GRCm39) D58G probably damaging Het
Tmprss15 T A 16: 78,800,266 (GRCm39) I621F probably damaging Het
Tns1 C T 1: 73,992,629 (GRCm39) S683N probably damaging Het
Ttn A G 2: 76,773,436 (GRCm39) L2322P probably damaging Het
Ugdh G T 5: 65,574,402 (GRCm39) H409N probably damaging Het
Vmn2r81 T A 10: 79,129,560 (GRCm39) M817K probably benign Het
Zbtb34 A G 2: 33,302,145 (GRCm39) V132A probably damaging Het
Zfp119b A G 17: 56,246,992 (GRCm39) C33R possibly 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
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
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'- TGCCACTTCTGAGCACAGTG -3'
(R):5'- CAGATGCACGCATTCAGAC -3'

Sequencing Primer
(F):5'- TTCTGAGCACAGTGCCCAC -3'
(R):5'- CAGCCGCATATTGAAGGTTC -3'
Posted On 2018-06-06