Incidental Mutation 'R7760:Wac'
ID 597828
Institutional Source Beutler Lab
Gene Symbol Wac
Ensembl Gene ENSMUSG00000024283
Gene Name WW domain containing adaptor with coiled-coil
Synonyms Wwp4, A230035H12Rik, 1110067P07Rik
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 7868832-7929028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7921913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 601 (C601S)
Ref Sequence ENSEMBL: ENSMUSP00000132117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074919] [ENSMUST00000092112] [ENSMUST00000167020] [ENSMUST00000169478] [ENSMUST00000171042] [ENSMUST00000171486] [ENSMUST00000172018]
AlphaFold Q924H7
Predicted Effect probably benign
Transcript: ENSMUST00000074919
AA Change: C556S

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074454
Gene: ENSMUSG00000024283
AA Change: C556S

DomainStartEndE-ValueType
low complexity region 55 77 N/A INTRINSIC
WW 85 117 2.12e-7 SMART
low complexity region 207 222 N/A INTRINSIC
low complexity region 287 307 N/A INTRINSIC
low complexity region 320 331 N/A INTRINSIC
low complexity region 466 481 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092112
AA Change: C498S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089746
Gene: ENSMUSG00000024283
AA Change: C498S

DomainStartEndE-ValueType
low complexity region 100 122 N/A INTRINSIC
WW 130 162 2.12e-7 SMART
low complexity region 229 249 N/A INTRINSIC
low complexity region 262 273 N/A INTRINSIC
low complexity region 408 423 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165854
SMART Domains Protein: ENSMUSP00000126815
Gene: ENSMUSG00000024283

DomainStartEndE-ValueType
low complexity region 20 42 N/A INTRINSIC
WW 50 82 2.12e-7 SMART
low complexity region 265 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167020
AA Change: C601S

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132117
Gene: ENSMUSG00000024283
AA Change: C601S

DomainStartEndE-ValueType
low complexity region 100 122 N/A INTRINSIC
WW 130 162 2.12e-7 SMART
low complexity region 252 267 N/A INTRINSIC
low complexity region 332 352 N/A INTRINSIC
low complexity region 365 376 N/A INTRINSIC
low complexity region 511 526 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167542
SMART Domains Protein: ENSMUSP00000125989
Gene: ENSMUSG00000024283

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 95 115 N/A INTRINSIC
low complexity region 128 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169478
AA Change: C183S

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130467
Gene: ENSMUSG00000024283
AA Change: C183S

DomainStartEndE-ValueType
low complexity region 94 108 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171042
AA Change: C449S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133185
Gene: ENSMUSG00000024283
AA Change: C449S

DomainStartEndE-ValueType
low complexity region 55 77 N/A INTRINSIC
WW 85 117 2.12e-7 SMART
low complexity region 184 204 N/A INTRINSIC
low complexity region 217 228 N/A INTRINSIC
low complexity region 359 374 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171486
AA Change: C450S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127848
Gene: ENSMUSG00000024283
AA Change: C450S

DomainStartEndE-ValueType
low complexity region 55 77 N/A INTRINSIC
WW 85 117 2.12e-7 SMART
low complexity region 184 204 N/A INTRINSIC
low complexity region 217 228 N/A INTRINSIC
low complexity region 360 375 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172018
AA Change: C552S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128321
Gene: ENSMUSG00000024283
AA Change: C552S

DomainStartEndE-ValueType
low complexity region 55 77 N/A INTRINSIC
WW 85 117 2.12e-7 SMART
low complexity region 207 222 N/A INTRINSIC
low complexity region 287 307 N/A INTRINSIC
low complexity region 320 331 N/A INTRINSIC
low complexity region 463 477 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R probably damaging Het
Other mutations in Wac
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02404:Wac APN 18 7,917,570 (GRCm39) missense probably damaging 1.00
BB007:Wac UTSW 18 7,921,560 (GRCm39) missense possibly damaging 0.47
BB017:Wac UTSW 18 7,921,560 (GRCm39) missense possibly damaging 0.47
R1077:Wac UTSW 18 7,921,916 (GRCm39) missense probably damaging 1.00
R2915:Wac UTSW 18 7,926,131 (GRCm39) missense possibly damaging 0.96
R3196:Wac UTSW 18 7,917,568 (GRCm39) missense probably damaging 1.00
R3793:Wac UTSW 18 7,920,190 (GRCm39) missense possibly damaging 0.86
R3840:Wac UTSW 18 7,918,535 (GRCm39) missense probably damaging 1.00
R3971:Wac UTSW 18 7,916,175 (GRCm39) missense probably damaging 1.00
R6402:Wac UTSW 18 7,901,585 (GRCm39) missense possibly damaging 0.71
R6429:Wac UTSW 18 7,920,163 (GRCm39) missense probably damaging 0.97
R6536:Wac UTSW 18 7,905,189 (GRCm39) splice site probably null
R6615:Wac UTSW 18 7,868,884 (GRCm39) splice site probably null
R6645:Wac UTSW 18 7,973,523 (GRCm39) missense probably damaging 1.00
R7088:Wac UTSW 18 7,921,455 (GRCm39) missense probably damaging 0.99
R7464:Wac UTSW 18 7,871,746 (GRCm39) critical splice donor site probably null
R7930:Wac UTSW 18 7,921,560 (GRCm39) missense possibly damaging 0.47
R8515:Wac UTSW 18 7,871,606 (GRCm39) missense probably benign 0.01
R8903:Wac UTSW 18 7,926,104 (GRCm39) nonsense probably null
R8965:Wac UTSW 18 7,905,936 (GRCm39) missense probably benign 0.18
R9149:Wac UTSW 18 7,921,592 (GRCm39) missense probably damaging 0.99
X0066:Wac UTSW 18 7,916,298 (GRCm39) critical splice donor site probably null
Z1176:Wac UTSW 18 7,973,531 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCATTTCATCTGCTAGGGTGC -3'
(R):5'- CACCTGTGTGGGTAACGTTG -3'

Sequencing Primer
(F):5'- TGCTGGGATTATGTAGATGCAC -3'
(R):5'- CAGGTTTGCTGGCCAAATC -3'
Posted On 2019-11-26