Incidental Mutation 'R7752:Wipf3'
ID597290
Institutional Source Beutler Lab
Gene Symbol Wipf3
Ensembl Gene ENSMUSG00000086040
Gene NameWAS/WASL interacting protein family, member 3
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #R7752 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location54429603-54503768 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54481911 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 84 (I84V)
Ref Sequence ENSEMBL: ENSMUSP00000132022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126637] [ENSMUST00000132855] [ENSMUST00000163746] [ENSMUST00000172046]
Predicted Effect probably benign
Transcript: ENSMUST00000126637
AA Change: I84V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116325
Gene: ENSMUSG00000086040
AA Change: I84V

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
WH2 56 73 2.16e-5 SMART
low complexity region 94 105 N/A INTRINSIC
low complexity region 175 204 N/A INTRINSIC
low complexity region 221 251 N/A INTRINSIC
low complexity region 257 276 N/A INTRINSIC
low complexity region 296 312 N/A INTRINSIC
low complexity region 334 348 N/A INTRINSIC
low complexity region 384 390 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128480
Predicted Effect probably benign
Transcript: ENSMUST00000132855
AA Change: I84V

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120240
Gene: ENSMUSG00000086040
AA Change: I84V

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
WH2 56 73 2.16e-5 SMART
low complexity region 94 105 N/A INTRINSIC
low complexity region 175 204 N/A INTRINSIC
low complexity region 221 251 N/A INTRINSIC
low complexity region 257 276 N/A INTRINSIC
low complexity region 296 312 N/A INTRINSIC
low complexity region 334 348 N/A INTRINSIC
low complexity region 384 390 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163746
AA Change: I84V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000132022
Gene: ENSMUSG00000086040
AA Change: I84V

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
WH2 56 73 2.16e-5 SMART
low complexity region 94 105 N/A INTRINSIC
low complexity region 175 204 N/A INTRINSIC
low complexity region 221 251 N/A INTRINSIC
low complexity region 257 276 N/A INTRINSIC
low complexity region 296 312 N/A INTRINSIC
low complexity region 334 348 N/A INTRINSIC
low complexity region 384 390 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172046
AA Change: I84V

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000132138
Gene: ENSMUSG00000086040
AA Change: I84V

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
WH2 56 73 2.16e-5 SMART
low complexity region 94 105 N/A INTRINSIC
low complexity region 175 204 N/A INTRINSIC
low complexity region 221 251 N/A INTRINSIC
low complexity region 257 276 N/A INTRINSIC
low complexity region 296 312 N/A INTRINSIC
low complexity region 334 348 N/A INTRINSIC
low complexity region 384 390 N/A INTRINSIC
Meta Mutation Damage Score 0.0775 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display impaired spermatogenesis, abnormal sperm head morphology, and significantly reduced male fertility. Female fertility is not affected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik A G 19: 11,101,860 I148T probably benign Het
2410089E03Rik A G 15: 8,269,706 E3126G unknown Het
Agfg2 A T 5: 137,667,704 F98I probably damaging Het
Akap13 T A 7: 75,677,258 N668K possibly damaging Het
Aox4 G A 1: 58,253,948 V868I not run Het
Ccdc39 T C 3: 33,832,617 R281G possibly damaging Het
Ccnt1 A T 15: 98,543,916 D490E probably benign Het
Cfhr2 T A 1: 139,813,584 I218F probably damaging Het
Clcn4 T C 7: 7,293,937 K234R probably benign Het
Col4a2 A T 8: 11,429,358 D747V probably benign Het
Csf1r T A 18: 61,110,296 L128Q probably damaging Het
Dcp1b G T 6: 119,175,357 R22L possibly damaging Het
Ddx6 T G 9: 44,627,663 F256C probably damaging Het
Diras1 C T 10: 81,022,061 V119M probably damaging Het
Ect2l T A 10: 18,141,964 D681V possibly damaging Het
Eme1 G T 11: 94,650,819 P59Q probably damaging Het
Farp1 G C 14: 121,257,947 E605Q probably damaging Het
Frem1 G T 4: 82,959,377 T1321K probably benign Het
Gcn1l1 T A 5: 115,615,568 L2326Q probably damaging Het
Gm10436 T C 12: 88,175,999 E478G probably damaging Het
Gpld1 T A 13: 24,962,775 V240E probably damaging Het
Gpr4 C A 7: 19,222,415 H87Q probably damaging Het
Ifi213 A T 1: 173,567,218 S584T probably benign Het
Il1f8 C T 2: 24,158,814 T77M possibly damaging Het
Inf2 A G 12: 112,609,684 E865G unknown Het
Klk1b1 T C 7: 43,971,245 I253T probably damaging Het
Lcmt1 G T 7: 123,369,807 M8I unknown Het
Mrs2 T A 13: 25,018,566 D64V possibly damaging Het
Muc4 A G 16: 32,768,734 Y755C Het
Ncoa3 T A 2: 166,065,768 L1099* probably null Het
Nlrp6 T C 7: 140,927,440 V873A possibly damaging Het
Nup155 C T 15: 8,116,442 P159L possibly damaging Het
Olfr1420 A T 19: 11,896,534 H171L probably benign Het
Olfr356 A T 2: 36,937,618 L166F probably damaging Het
Olfr734 A T 14: 50,320,116 S240T probably damaging Het
Pex5 A G 6: 124,403,901 S255P probably damaging Het
Pex5 T C 6: 124,414,018 T58A probably benign Het
Phip T G 9: 82,890,150 M1115L probably benign Het
Ppl T G 16: 5,102,302 S410R probably benign Het
Ppp1r17 G A 6: 56,022,456 D25N probably damaging Het
Prox2 T A 12: 85,088,041 I489F probably damaging Het
Ptprb C G 10: 116,369,428 P1896A probably benign Het
Rgl2 T C 17: 33,935,825 L601P possibly damaging Het
Sash1 C T 10: 8,780,564 W221* probably null Het
Skint1 A C 4: 112,019,202 T107P probably damaging Het
Slc41a2 A G 10: 83,256,041 S453P possibly damaging Het
Sox11 A T 12: 27,341,440 N323K probably damaging Het
Taf4 G A 2: 179,932,029 T682M probably damaging Het
Thbd C A 2: 148,406,974 V325L probably damaging Het
Tmco5 T C 2: 116,892,262 F288S probably damaging Het
Traj16 T C 14: 54,203,188 Y19H unknown Het
Trip11 A G 12: 101,886,974 V454A probably benign Het
Tsg101 G T 7: 46,913,435 Q24K probably benign Het
Ttn T C 2: 76,725,026 E30545G probably damaging Het
Unkl T C 17: 25,218,653 S200P probably damaging Het
Vwa2 T A 19: 56,909,240 I659N probably damaging Het
Zfp592 T G 7: 81,024,721 S478A probably benign Het
Zfp664 A T 5: 124,885,775 K78* probably null Het
Zfp738 A T 13: 67,672,991 L79* probably null Het
Zfyve28 C T 5: 34,224,982 R258Q probably damaging Het
Other mutations in Wipf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0234:Wipf3 UTSW 6 54496501 missense probably damaging 0.99
R0234:Wipf3 UTSW 6 54496501 missense probably damaging 0.99
R0427:Wipf3 UTSW 6 54483897 missense possibly damaging 0.65
R0529:Wipf3 UTSW 6 54485363 missense probably damaging 0.97
R0699:Wipf3 UTSW 6 54483832 missense probably damaging 0.99
R2246:Wipf3 UTSW 6 54489073 missense probably damaging 0.99
R3809:Wipf3 UTSW 6 54481795 missense probably damaging 0.96
R4037:Wipf3 UTSW 6 54481828 missense probably damaging 1.00
R4038:Wipf3 UTSW 6 54481828 missense probably damaging 1.00
R4613:Wipf3 UTSW 6 54485555 missense probably damaging 1.00
R5144:Wipf3 UTSW 6 54485675 missense probably damaging 1.00
R5408:Wipf3 UTSW 6 54481911 missense probably benign 0.25
R5464:Wipf3 UTSW 6 54485323 missense possibly damaging 0.46
R7116:Wipf3 UTSW 6 54481919 critical splice donor site probably null
R7383:Wipf3 UTSW 6 54485278 missense probably benign 0.04
R7577:Wipf3 UTSW 6 54485524 missense possibly damaging 0.91
R8117:Wipf3 UTSW 6 54483831 missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- GTTCCTGGCCTTGGAAATGG -3'
(R):5'- CCTTTCAGAGAGGAGTGTCTG -3'

Sequencing Primer
(F):5'- GAGCATTTTGTTTCTCTGCAAATGC -3'
(R):5'- CAGAGAGGAGTGTCTGAATCTCTC -3'
Posted On2019-11-26