Incidental Mutation 'R6429:Wac'
ID 518457
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 044567-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6429 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 7868832-7929028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7920163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 339 (V339E)
Ref Sequence ENSEMBL: ENSMUSP00000127848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074919] [ENSMUST00000092112] [ENSMUST00000166062] [ENSMUST00000167020] [ENSMUST00000169478] [ENSMUST00000171042] [ENSMUST00000171486] [ENSMUST00000172018] [ENSMUST00000170854] [ENSMUST00000168446]
AlphaFold Q924H7
Predicted Effect probably benign
Transcript: ENSMUST00000074919
AA Change: V445E

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000074454
Gene: ENSMUSG00000024283
AA Change: V445E

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 possibly damaging
Transcript: ENSMUST00000092112
AA Change: V387E

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000089746
Gene: ENSMUSG00000024283
AA Change: V387E

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 unknown
Transcript: ENSMUST00000165854
AA Change: V243E
SMART Domains Protein: ENSMUSP00000126815
Gene: ENSMUSG00000024283
AA Change: V243E

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: ENSMUST00000166062
SMART Domains Protein: ENSMUSP00000132532
Gene: ENSMUSG00000024283

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
Predicted Effect probably benign
Transcript: ENSMUST00000167020
AA Change: V490E

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000132117
Gene: ENSMUSG00000024283
AA Change: V490E

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 noncoding transcript
Transcript: ENSMUST00000167057
Predicted Effect probably benign
Transcript: ENSMUST00000169478
AA Change: V73E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000130467
Gene: ENSMUSG00000024283
AA Change: V73E

DomainStartEndE-ValueType
low complexity region 94 108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171042
AA Change: V338E

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133185
Gene: ENSMUSG00000024283
AA Change: V338E

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: V339E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127848
Gene: ENSMUSG00000024283
AA Change: V339E

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 benign
Transcript: ENSMUST00000172018
AA Change: V442E

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128321
Gene: ENSMUSG00000024283
AA Change: V442E

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
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: ENSMUST00000170854
SMART Domains Protein: ENSMUSP00000131141
Gene: ENSMUSG00000024283

DomainStartEndE-ValueType
low complexity region 100 115 N/A INTRINSIC
low complexity region 187 207 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168446
SMART Domains Protein: ENSMUSP00000131032
Gene: ENSMUSG00000024283

DomainStartEndE-ValueType
low complexity region 106 128 N/A INTRINSIC
WW 136 168 2.12e-7 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G A 5: 114,366,652 (GRCm39) E1565K probably damaging Het
Amy1 T C 3: 113,363,158 (GRCm39) N63S probably damaging Het
Arhgef15 G T 11: 68,838,622 (GRCm39) N591K probably damaging Het
AW551984 A G 9: 39,511,910 (GRCm39) S34P probably damaging Het
C2cd3 A G 7: 100,081,298 (GRCm39) D127G probably damaging Het
Ccdc87 T A 19: 4,891,263 (GRCm39) V585E probably benign Het
Cemip2 T C 19: 21,779,272 (GRCm39) C361R probably benign Het
Cul2 T C 18: 3,421,345 (GRCm39) I223T probably damaging Het
Dgkq C T 5: 108,801,574 (GRCm39) V495M probably damaging Het
Dpp10 A G 1: 123,295,330 (GRCm39) I570T possibly damaging Het
Dstyk C T 1: 132,377,542 (GRCm39) Q383* probably null Het
Emilin2 C A 17: 71,617,951 (GRCm39) probably benign Het
Fnip1 A G 11: 54,406,393 (GRCm39) I1163M probably damaging Het
Fryl C T 5: 73,248,094 (GRCm39) E1008K possibly damaging Het
Gm35315 A T 5: 110,226,525 (GRCm39) Y305N possibly damaging Het
Grhl3 T A 4: 135,284,507 (GRCm39) D195V probably damaging Het
Ift56 T A 6: 38,375,248 (GRCm39) S250T possibly damaging Het
Il33 T C 19: 29,929,400 (GRCm39) F41S probably benign Het
Il4 A G 11: 53,504,736 (GRCm39) S15P possibly damaging Het
Inf2 C T 12: 112,570,690 (GRCm39) P410S probably benign Het
Kalrn T A 16: 34,152,534 (GRCm39) D349V possibly damaging Het
Krt4 A G 15: 101,831,229 (GRCm39) M224T probably benign Het
Lrp2 C T 2: 69,291,631 (GRCm39) S3516N probably damaging Het
Macf1 A T 4: 123,295,387 (GRCm39) probably null Het
Msr1 G A 8: 40,068,858 (GRCm39) P213S probably damaging Het
Nptx1 G T 11: 119,435,547 (GRCm39) C256* probably null Het
Nr1d1 T C 11: 98,662,840 (GRCm39) Y51C probably damaging Het
Or4c11c G A 2: 88,661,869 (GRCm39) R136Q probably benign Het
Panx3 T C 9: 37,572,461 (GRCm39) D363G probably damaging Het
Pira13 A T 7: 3,825,345 (GRCm39) H432Q possibly damaging Het
Prkag1 A G 15: 98,712,404 (GRCm39) F143L probably damaging Het
Ptger4 T C 15: 5,272,478 (GRCm39) K72R possibly damaging Het
Pvrig-ps A G 5: 138,340,312 (GRCm39) T28A probably benign Het
Rhod C T 19: 4,476,133 (GRCm39) C206Y probably benign Het
Rngtt C A 4: 33,320,606 (GRCm39) S51* probably null Het
Rreb1 T G 13: 38,116,105 (GRCm39) S1155A probably benign Het
Scn9a A C 2: 66,357,307 (GRCm39) I998S possibly damaging Het
Sfmbt1 T A 14: 30,495,868 (GRCm39) F50L probably damaging Het
Six4 A T 12: 73,150,247 (GRCm39) V766D probably damaging Het
Smpd1 T C 7: 105,206,135 (GRCm39) I421T probably damaging Het
Son T A 16: 91,455,054 (GRCm39) M1267K probably benign Het
Styk1 T A 6: 131,287,027 (GRCm39) D156V possibly damaging Het
Supt3 A G 17: 45,430,030 (GRCm39) E361G probably benign Het
Tbx3 T A 5: 119,812,256 (GRCm39) Y185* probably null Het
Trpm1 A T 7: 63,918,252 (GRCm39) T531S probably benign Het
Tspan32 T A 7: 142,572,479 (GRCm39) W172R possibly damaging Het
Urb1 A T 16: 90,559,318 (GRCm39) probably null Het
Vmn2r70 T A 7: 85,208,276 (GRCm39) I734F probably damaging Het
Vwa7 A G 17: 35,243,175 (GRCm39) T618A probably benign Het
Wrn G A 8: 33,833,024 (GRCm39) T156M probably damaging Het
Zeb1 T A 18: 5,770,498 (GRCm39) C884S probably damaging Het
Zfp747l1 T C 7: 126,984,214 (GRCm39) probably benign Het
Zmpste24 A G 4: 120,952,867 (GRCm39) V10A 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
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
R7760:Wac UTSW 18 7,921,913 (GRCm39) missense probably benign 0.43
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'- ACATGGGCAAATGTATACACAAAGC -3'
(R):5'- TGAAGTACTGTTAGGTACATCTTGC -3'

Sequencing Primer
(F):5'- CTTAGTGAAAACTGCTAATTTTACGC -3'
(R):5'- ACTGTTAGGTACATCTTGCTCATAC -3'
Posted On 2018-05-24