Incidental Mutation 'R3196:Wac'
ID 267682
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 040617-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3196 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 7868832-7929028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7917568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 346 (V346E)
Ref Sequence ENSEMBL: ENSMUSP00000128321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074919] [ENSMUST00000092112] [ENSMUST00000166062] [ENSMUST00000167020] [ENSMUST00000171042] [ENSMUST00000171486] [ENSMUST00000172018] [ENSMUST00000168446] [ENSMUST00000170854] [ENSMUST00000169478]
AlphaFold Q924H7
Predicted Effect probably damaging
Transcript: ENSMUST00000074919
AA Change: V349E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074454
Gene: ENSMUSG00000024283
AA Change: V349E

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: V291E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089746
Gene: ENSMUSG00000024283
AA Change: V291E

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: 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 damaging
Transcript: ENSMUST00000167020
AA Change: V394E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132117
Gene: ENSMUSG00000024283
AA Change: V394E

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 unknown
Transcript: ENSMUST00000167542
AA Change: V152E
SMART Domains Protein: ENSMUSP00000125989
Gene: ENSMUSG00000024283
AA Change: V152E

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 damaging
Transcript: ENSMUST00000171042
AA Change: V242E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133185
Gene: ENSMUSG00000024283
AA Change: V242E

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: V243E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127848
Gene: ENSMUSG00000024283
AA Change: V243E

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: V346E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128321
Gene: ENSMUSG00000024283
AA Change: V346E

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: ENSMUST00000168446
SMART Domains Protein: ENSMUSP00000131032
Gene: ENSMUSG00000024283

DomainStartEndE-ValueType
low complexity region 106 128 N/A INTRINSIC
WW 136 168 2.12e-7 SMART
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: ENSMUST00000169478
SMART Domains Protein: ENSMUSP00000130467
Gene: ENSMUSG00000024283

DomainStartEndE-ValueType
low complexity region 94 108 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,132 (GRCm39) N158K probably benign Het
Acnat1 G C 4: 49,447,457 (GRCm39) P357A probably damaging Het
Akap6 T A 12: 53,119,240 (GRCm39) C1102* probably null Het
Amelx T C X: 167,964,826 (GRCm39) probably benign Het
Brap G A 5: 121,803,259 (GRCm39) V136I possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csgalnact1 TGG TG 8: 68,913,737 (GRCm39) probably null Het
Csk A T 9: 57,537,556 (GRCm39) C119* probably null Het
Dcbld1 T C 10: 52,195,587 (GRCm39) L265P probably damaging Het
Desi1 T A 15: 81,887,976 (GRCm39) K31N probably damaging Het
Dpy19l2 C A 9: 24,607,285 (GRCm39) G59C probably damaging Het
Eif2b5 T C 16: 20,324,272 (GRCm39) V498A probably benign Het
Epdr1 A T 13: 19,778,815 (GRCm39) Y94N probably damaging Het
Fat1 T C 8: 45,404,905 (GRCm39) V552A probably benign Het
Focad A G 4: 88,325,588 (GRCm39) E151G possibly damaging Het
Frem1 A G 4: 82,932,351 (GRCm39) F117L probably damaging Het
Frem2 A T 3: 53,444,752 (GRCm39) Y2460N probably damaging Het
Gm3604 A T 13: 62,517,868 (GRCm39) C163* probably null Het
Gpalpp1 A C 14: 76,336,063 (GRCm39) probably null Het
Grid2ip A G 5: 143,373,933 (GRCm39) I858V probably damaging Het
Grin2b ATTGTTGT ATTGT 6: 135,709,453 (GRCm39) probably benign Het
Hps4 A G 5: 112,512,429 (GRCm39) T182A probably damaging Het
Impa1 A T 3: 10,394,075 (GRCm39) probably null Het
Kcnh3 T C 15: 99,131,862 (GRCm39) S606P probably damaging Het
Kif23 T A 9: 61,839,193 (GRCm39) R301* probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lcp2 G T 11: 34,040,670 (GRCm39) A529S probably benign Het
Lhx8 G A 3: 154,035,925 (GRCm39) A22V probably benign Het
Lin28a A T 4: 133,735,235 (GRCm39) S134T possibly damaging Het
Med27 T A 2: 29,236,882 (GRCm39) V9E possibly damaging Het
Mmp7 C A 9: 7,692,219 (GRCm39) S31R probably benign Het
Mtcl1 T G 17: 66,650,829 (GRCm39) E1545D probably benign Het
Muc16 A G 9: 18,409,126 (GRCm39) Y187H probably damaging Het
Myo3a G T 2: 22,404,679 (GRCm39) K678N possibly damaging Het
Nsmce1 T C 7: 125,085,645 (GRCm39) M15V probably benign Het
Nxpe3 A T 16: 55,670,078 (GRCm39) N342K probably damaging Het
Or7g25 A G 9: 19,160,495 (GRCm39) S67P probably damaging Het
Or8g2 T A 9: 39,821,756 (GRCm39) I219N probably damaging Het
Pcdhb9 A G 18: 37,534,663 (GRCm39) N219S probably benign Het
Pck2 T A 14: 55,781,449 (GRCm39) V190E probably damaging Het
Pde4b G A 4: 102,456,840 (GRCm39) A429T probably damaging Het
Phf1 T C 17: 27,153,429 (GRCm39) V54A probably damaging Het
Pla2r1 T C 2: 60,353,127 (GRCm39) E278G probably damaging Het
Ptges3 G T 10: 127,908,016 (GRCm39) R122L probably benign Het
Rnpepl1 C T 1: 92,844,881 (GRCm39) T391I probably damaging Het
Rps6kb1 G A 11: 86,397,633 (GRCm39) A404V probably benign Het
Rrm2b T C 15: 37,945,391 (GRCm39) probably null Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Skint9 T G 4: 112,248,148 (GRCm39) I199L probably benign Het
Slc9b2 G T 3: 135,042,290 (GRCm39) R523L probably benign Het
Slco1c1 T A 6: 141,477,174 (GRCm39) probably null Het
Stox2 T C 8: 47,645,865 (GRCm39) T532A probably damaging Het
Tbcel A G 9: 42,327,248 (GRCm39) L385P probably damaging Het
Tle5 A G 10: 81,401,474 (GRCm39) N181D probably benign Het
Tmem268 G A 4: 63,496,149 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top3a G A 11: 60,650,182 (GRCm39) T122M probably damaging Het
Trav7n-4 G A 14: 53,329,088 (GRCm39) V33I probably benign Het
Ttn T G 2: 76,539,551 (GRCm39) E26151D possibly damaging Het
Ttn C T 2: 76,687,228 (GRCm39) probably benign Het
Tyk2 A G 9: 21,035,328 (GRCm39) C195R possibly damaging Het
Ugt2b38 T C 5: 87,558,078 (GRCm39) K528E probably damaging Het
Usp28 T A 9: 48,937,125 (GRCm39) D483E probably benign Het
Vldlr A G 19: 27,220,554 (GRCm39) D598G probably damaging Het
Vmn1r51 T G 6: 90,106,498 (GRCm39) I138S probably damaging Het
Vps13b G A 15: 35,869,541 (GRCm39) A2682T probably damaging Het
Zdbf2 T C 1: 63,347,579 (GRCm39) V1986A possibly 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
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
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'- AGAGTTGACCTTTATTGTTAGCCTG -3'
(R):5'- TGAATACCAAAGTCTACAGTGAAGG -3'

Sequencing Primer
(F):5'- AAGGGGTCAGATCCTGTAGTTAC -3'
(R):5'- TCTGGAACTAAAAATCAAGCTTTCCC -3'
Posted On 2015-02-18