Incidental Mutation 'R3161:Wipf1'
ID 258151
Institutional Source Beutler Lab
Gene Symbol Wipf1
Ensembl Gene ENSMUSG00000075284
Gene Name WAS/WASL interacting protein family, member 1
Synonyms Waspip, WIP, D2Ertd120e
MMRRC Submission 040612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R3161 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 73259954-73359831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73265293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 437 (E437K)
Ref Sequence ENSEMBL: ENSMUSP00000099741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094681] [ENSMUST00000102679] [ENSMUST00000102680] [ENSMUST00000141264]
AlphaFold Q8K1I7
Predicted Effect probably damaging
Transcript: ENSMUST00000094681
AA Change: E437K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092268
Gene: ENSMUSG00000075284
AA Change: E437K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
WH2 32 49 9.78e-4 SMART
low complexity region 64 108 N/A INTRINSIC
low complexity region 141 157 N/A INTRINSIC
low complexity region 162 175 N/A INTRINSIC
low complexity region 185 196 N/A INTRINSIC
low complexity region 232 249 N/A INTRINSIC
low complexity region 274 317 N/A INTRINSIC
low complexity region 329 374 N/A INTRINSIC
low complexity region 398 424 N/A INTRINSIC
PDB:2IFS|A 441 470 1e-11 PDB
low complexity region 471 484 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102679
AA Change: E437K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099740
Gene: ENSMUSG00000075284
AA Change: E437K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
WH2 32 49 9.78e-4 SMART
low complexity region 64 108 N/A INTRINSIC
low complexity region 141 157 N/A INTRINSIC
low complexity region 162 175 N/A INTRINSIC
low complexity region 185 196 N/A INTRINSIC
low complexity region 232 249 N/A INTRINSIC
low complexity region 274 317 N/A INTRINSIC
low complexity region 329 374 N/A INTRINSIC
low complexity region 398 424 N/A INTRINSIC
PDB:2IFS|A 441 470 1e-11 PDB
low complexity region 471 484 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102680
AA Change: E437K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099741
Gene: ENSMUSG00000075284
AA Change: E437K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
WH2 32 49 9.78e-4 SMART
low complexity region 64 108 N/A INTRINSIC
low complexity region 141 157 N/A INTRINSIC
low complexity region 162 175 N/A INTRINSIC
low complexity region 185 196 N/A INTRINSIC
low complexity region 232 249 N/A INTRINSIC
low complexity region 274 317 N/A INTRINSIC
low complexity region 329 374 N/A INTRINSIC
low complexity region 398 424 N/A INTRINSIC
PDB:2IFS|A 441 470 1e-11 PDB
low complexity region 471 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141264
SMART Domains Protein: ENSMUSP00000119190
Gene: ENSMUSG00000075284

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
WH2 32 49 9.78e-4 SMART
low complexity region 64 108 N/A INTRINSIC
low complexity region 141 157 N/A INTRINSIC
low complexity region 162 175 N/A INTRINSIC
low complexity region 185 196 N/A INTRINSIC
Meta Mutation Damage Score 0.0842 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have immunological abnormalities, although lymphocyte development appears normal. Mutants show abnormal B and T cell proliferative responses, high serum immunoglobulin levels and impaired immunological synapse formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
1700066M21Rik T A 1: 57,422,234 (GRCm39) N203K probably benign Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgrl2 G A 3: 148,523,187 (GRCm39) L1354F probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Aox1 G T 1: 58,343,597 (GRCm39) V427L possibly damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
Bptf A T 11: 106,965,302 (GRCm39) D1182E probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Chct1 A G 11: 85,064,110 (GRCm39) S84G probably damaging Het
Ciz1 A G 2: 32,260,075 (GRCm39) D207G probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crabp2 A T 3: 87,859,484 (GRCm39) K45* probably null Het
Daam1 C A 12: 71,993,872 (GRCm39) T425K unknown Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dlg4 G C 11: 69,908,051 (GRCm39) R4T probably damaging Het
Fbf1 A G 11: 116,039,046 (GRCm39) I743T probably damaging Het
Fen1 A G 19: 10,177,655 (GRCm39) L263P probably damaging Het
G6pc2 A G 2: 69,050,456 (GRCm39) N27S probably damaging Het
Garnl3 A T 2: 32,924,723 (GRCm39) N246K probably damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Gpr152 A G 19: 4,192,713 (GRCm39) T85A probably benign Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Ighv1-81 C G 12: 115,883,949 (GRCm39) E101Q probably benign Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Myo9a C T 9: 59,739,598 (GRCm39) probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or5an1c T C 19: 12,218,860 (GRCm39) H55R probably benign Het
Or6d13 C T 6: 116,517,807 (GRCm39) A131V probably damaging Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Phyh T A 2: 4,942,482 (GRCm39) probably benign Het
Pkp4 G T 2: 59,138,449 (GRCm39) R233M probably damaging Het
Plcb1 A T 2: 135,177,402 (GRCm39) Q578L probably benign Het
Ppil3 A T 1: 58,473,573 (GRCm39) N92K probably benign Het
Prokr1 C T 6: 87,565,413 (GRCm39) R144H probably damaging Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Sult2a4 T C 7: 13,723,396 (GRCm39) T40A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Ttn A G 2: 76,663,581 (GRCm39) probably benign Het
Vmn2r115 T A 17: 23,575,998 (GRCm39) M532K possibly damaging Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wls G T 3: 159,603,073 (GRCm39) C162F probably damaging Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zfp868 A G 8: 70,064,736 (GRCm39) S200P probably benign Het
Other mutations in Wipf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Wipf1 APN 2 73,278,225 (GRCm39) missense unknown
IGL02391:Wipf1 APN 2 73,264,487 (GRCm39) missense probably damaging 1.00
IGL02992:Wipf1 APN 2 73,264,427 (GRCm39) missense probably damaging 1.00
PIT1430001:Wipf1 UTSW 2 73,267,946 (GRCm39) missense probably damaging 1.00
R1553:Wipf1 UTSW 2 73,267,870 (GRCm39) missense possibly damaging 0.96
R1920:Wipf1 UTSW 2 73,270,499 (GRCm39) missense probably benign 0.11
R3154:Wipf1 UTSW 2 73,267,834 (GRCm39) missense possibly damaging 0.86
R3975:Wipf1 UTSW 2 73,267,513 (GRCm39) missense probably benign 0.00
R4996:Wipf1 UTSW 2 73,270,418 (GRCm39) unclassified probably benign
R5218:Wipf1 UTSW 2 73,274,812 (GRCm39) missense probably damaging 1.00
R6916:Wipf1 UTSW 2 73,267,748 (GRCm39) missense probably damaging 1.00
R7006:Wipf1 UTSW 2 73,267,441 (GRCm39) missense probably damaging 1.00
R7259:Wipf1 UTSW 2 73,265,425 (GRCm39) missense probably damaging 0.99
R7486:Wipf1 UTSW 2 73,270,418 (GRCm39) unclassified probably benign
R7689:Wipf1 UTSW 2 73,262,789 (GRCm39) missense probably damaging 0.98
R7712:Wipf1 UTSW 2 73,274,805 (GRCm39) missense probably damaging 1.00
R8094:Wipf1 UTSW 2 73,267,879 (GRCm39) missense possibly damaging 0.67
R8095:Wipf1 UTSW 2 73,267,879 (GRCm39) missense possibly damaging 0.67
R8120:Wipf1 UTSW 2 73,267,879 (GRCm39) missense possibly damaging 0.67
R8136:Wipf1 UTSW 2 73,267,879 (GRCm39) missense possibly damaging 0.67
R8150:Wipf1 UTSW 2 73,267,879 (GRCm39) missense possibly damaging 0.67
R8152:Wipf1 UTSW 2 73,267,879 (GRCm39) missense possibly damaging 0.67
R9558:Wipf1 UTSW 2 73,268,020 (GRCm39) missense probably damaging 1.00
Z1177:Wipf1 UTSW 2 73,267,708 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- GGGCCTTACTCACAGATGTTC -3'
(R):5'- CAGAAATGGAAGCACAGCTC -3'

Sequencing Primer
(F):5'- GCCTTACTCACAGATGTTCAGAAATG -3'
(R):5'- AAGCACAGCTCGGGCCC -3'
Posted On 2015-01-23