Incidental Mutation 'IGL00597:Whamm'
ID 5215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Whamm
Ensembl Gene ENSMUSG00000045795
Gene Name WAS protein homolog associated with actin, golgi membranes and microtubules
Synonyms Whdc1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00597
Quality Score
Status
Chromosome 7
Chromosomal Location 81221014-81246584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81228014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 87 (V87A)
Ref Sequence ENSEMBL: ENSMUSP00000146854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165460] [ENSMUST00000207123] [ENSMUST00000209044]
AlphaFold Q571B6
Predicted Effect probably damaging
Transcript: ENSMUST00000165460
AA Change: V293A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128881
Gene: ENSMUSG00000045795
AA Change: V293A

DomainStartEndE-ValueType
Pfam:WHAMM-JMY_N 5 54 1.1e-30 PFAM
Pfam:JMY 67 435 1.3e-157 PFAM
coiled coil region 448 470 N/A INTRINSIC
low complexity region 509 522 N/A INTRINSIC
low complexity region 631 656 N/A INTRINSIC
WH2 698 716 5.69e2 SMART
WH2 728 745 6.26e-2 SMART
coiled coil region 758 785 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207123
Predicted Effect probably damaging
Transcript: ENSMUST00000209044
AA Change: V87A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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 a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdkrb1 A T 12: 105,571,210 (GRCm39) I259F probably damaging Het
Chac1 A G 2: 119,184,040 (GRCm39) Y214C probably benign Het
Ctnnd2 A C 15: 30,647,287 (GRCm39) T328P possibly damaging Het
Gart A G 16: 91,435,677 (GRCm39) S179P possibly damaging Het
Gbp9 A G 5: 105,242,364 (GRCm39) V125A probably damaging Het
Gpc6 T A 14: 118,188,646 (GRCm39) S427T probably benign Het
Ifna7 A T 4: 88,734,675 (GRCm39) I71F probably benign Het
Kcnip1 A T 11: 33,593,289 (GRCm39) probably benign Het
Kcnip1 A T 11: 33,593,294 (GRCm39) probably null Het
Krt86 A G 15: 101,374,107 (GRCm39) K222R probably benign Het
Nacad G A 11: 6,550,921 (GRCm39) P757S probably benign Het
Obox7 C A 7: 14,397,957 (GRCm39) probably benign Het
Pam T A 1: 97,762,169 (GRCm39) T805S probably benign Het
Pgam2 G A 11: 5,753,442 (GRCm39) R83C probably damaging Het
Prtg T A 9: 72,716,926 (GRCm39) I89N probably damaging Het
Rpusd4 T A 9: 35,179,738 (GRCm39) V77E probably benign Het
Sirpb1a T C 3: 15,481,977 (GRCm39) Y50C probably damaging Het
Other mutations in Whamm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Whamm APN 7 81,245,662 (GRCm39) missense probably damaging 1.00
IGL01870:Whamm APN 7 81,245,722 (GRCm39) missense probably damaging 0.96
IGL03153:Whamm APN 7 81,239,280 (GRCm39) splice site probably benign
R0179:Whamm UTSW 7 81,243,763 (GRCm39) missense probably benign 0.00
R0364:Whamm UTSW 7 81,243,799 (GRCm39) missense probably benign 0.00
R0550:Whamm UTSW 7 81,235,972 (GRCm39) missense possibly damaging 0.55
R0682:Whamm UTSW 7 81,235,886 (GRCm39) missense probably damaging 1.00
R1388:Whamm UTSW 7 81,236,038 (GRCm39) missense probably damaging 1.00
R1940:Whamm UTSW 7 81,228,047 (GRCm39) missense probably null 0.94
R1991:Whamm UTSW 7 81,241,519 (GRCm39) nonsense probably null
R1992:Whamm UTSW 7 81,241,519 (GRCm39) nonsense probably null
R2103:Whamm UTSW 7 81,241,519 (GRCm39) nonsense probably null
R2104:Whamm UTSW 7 81,241,519 (GRCm39) nonsense probably null
R2162:Whamm UTSW 7 81,221,089 (GRCm39) missense probably damaging 1.00
R2291:Whamm UTSW 7 81,241,519 (GRCm39) nonsense probably null
R3078:Whamm UTSW 7 81,221,532 (GRCm39) missense probably damaging 1.00
R4735:Whamm UTSW 7 81,221,122 (GRCm39) missense probably benign 0.01
R6336:Whamm UTSW 7 81,241,512 (GRCm39) missense probably damaging 1.00
R6723:Whamm UTSW 7 81,245,868 (GRCm39) missense probably damaging 1.00
R6747:Whamm UTSW 7 81,228,050 (GRCm39) critical splice donor site probably null
R7029:Whamm UTSW 7 81,241,574 (GRCm39) missense probably benign 0.09
R7286:Whamm UTSW 7 81,235,995 (GRCm39) missense probably damaging 0.98
R7525:Whamm UTSW 7 81,243,598 (GRCm39) missense probably damaging 1.00
R7732:Whamm UTSW 7 81,221,172 (GRCm39) missense probably damaging 1.00
R8348:Whamm UTSW 7 81,224,295 (GRCm39) missense probably damaging 0.98
R8448:Whamm UTSW 7 81,224,295 (GRCm39) missense probably damaging 0.98
R8769:Whamm UTSW 7 81,234,933 (GRCm39) nonsense probably null
R8890:Whamm UTSW 7 81,243,640 (GRCm39) missense probably benign 0.39
R9226:Whamm UTSW 7 81,243,655 (GRCm39) missense probably damaging 1.00
R9431:Whamm UTSW 7 81,236,035 (GRCm39) missense probably damaging 1.00
R9436:Whamm UTSW 7 81,221,063 (GRCm39) unclassified probably benign
Posted On 2012-04-20