Incidental Mutation 'R9431:Whamm'
ID 712961
Institutional Source Beutler Lab
Gene Symbol Whamm
Ensembl Gene ENSMUSG00000045795
Gene Name WAS protein homolog associated with actin, golgi membranes and microtubules
Synonyms Whdc1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9431 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 81221014-81246584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81236035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 413 (R413G)
Ref Sequence ENSEMBL: ENSMUSP00000128881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165460] [ENSMUST00000207123] [ENSMUST00000209044]
AlphaFold Q571B6
Predicted Effect probably damaging
Transcript: ENSMUST00000165460
AA Change: R413G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128881
Gene: ENSMUSG00000045795
AA Change: R413G

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: R207G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A C 5: 88,120,325 (GRCm39) I361L possibly damaging Het
Aebp2 C T 6: 140,592,594 (GRCm39) P446L probably damaging Het
Arhgap32 C A 9: 32,170,463 (GRCm39) A1081D probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdc73 T A 1: 143,545,740 (GRCm39) K299* probably null Het
Cpq C T 15: 33,250,078 (GRCm39) T145I probably benign Het
Creb1 C A 1: 64,615,413 (GRCm39) A215E probably damaging Het
D630045J12Rik G T 6: 38,173,814 (GRCm39) A118E probably benign Het
Dnah7a A T 1: 53,450,812 (GRCm39) F3873I possibly damaging Het
Dock10 T C 1: 80,583,593 (GRCm39) Y203C probably damaging Het
Evi5 A G 5: 107,990,150 (GRCm39) V23A probably damaging Het
Fat2 T C 11: 55,142,838 (GRCm39) D4337G probably damaging Het
Fbxl17 G A 17: 63,387,489 (GRCm39) T631I probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Focad A G 4: 88,321,583 (GRCm39) M1559V unknown Het
Fras1 A T 5: 96,900,873 (GRCm39) I3031L possibly damaging Het
Gnas T C 2: 174,139,826 (GRCm39) S58P unknown Het
Hdac9 G A 12: 34,440,327 (GRCm39) Q351* probably null Het
Ibsp A T 5: 104,457,167 (GRCm39) N92I probably damaging Het
Kank1 C A 19: 25,387,866 (GRCm39) T513N probably damaging Het
Kcnh1 A G 1: 192,101,123 (GRCm39) T599A probably benign Het
Kdm5a T A 6: 120,392,253 (GRCm39) L992M probably damaging Het
Lipc T C 9: 70,723,889 (GRCm39) Y245C probably damaging Het
Mdfic2 T C 6: 98,215,164 (GRCm39) H153R probably benign Het
Morc3 C A 16: 93,667,771 (GRCm39) Y716* probably null Het
Mroh2b A T 15: 4,963,952 (GRCm39) D848V probably damaging Het
Or13c7e-ps1 A C 4: 43,781,682 (GRCm39) I216S possibly damaging Het
Or2d2b T A 7: 106,705,336 (GRCm39) H244L probably damaging Het
Or2y1b A G 11: 49,208,459 (GRCm39) I29V probably benign Het
Or5h27 A G 16: 59,006,090 (GRCm39) V252A unknown Het
Or6ae1 T A 7: 139,741,942 (GRCm39) Q307L probably benign Het
Patl1 A G 19: 11,898,815 (GRCm39) E170G probably damaging Het
Rad17 A G 13: 100,780,074 (GRCm39) V112A probably damaging Het
Rigi A G 4: 40,229,545 (GRCm39) S125P probably benign Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Slc12a5 T C 2: 164,832,178 (GRCm39) V699A possibly damaging Het
Slc13a4 A G 6: 35,278,742 (GRCm39) V49A probably damaging Het
Slc22a6 A G 19: 8,598,596 (GRCm39) T218A probably benign Het
Slc30a9 A G 5: 67,505,278 (GRCm39) D422G probably damaging Het
Slc37a3 T C 6: 39,324,363 (GRCm39) Y295C possibly damaging Het
Slc39a8 T C 3: 135,563,923 (GRCm39) V256A probably benign Het
Slc45a2 G A 15: 11,026,005 (GRCm39) E452K possibly damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Slc7a12 G A 3: 14,546,035 (GRCm39) C60Y probably damaging Het
St8sia3 T A 18: 64,398,640 (GRCm39) L33Q probably damaging Het
Tiam1 A G 16: 89,594,918 (GRCm39) probably null Het
Trim37 T A 11: 87,077,257 (GRCm39) V529E probably benign Het
Trpv3 A T 11: 73,178,225 (GRCm39) T431S probably benign Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Ttn C T 2: 76,544,679 (GRCm39) V32808M probably damaging Het
Vmn2r27 T C 6: 124,168,856 (GRCm39) Y758C probably damaging Het
Vwa5b2 C T 16: 20,423,046 (GRCm39) P1015S probably benign Het
Zbtb41 C T 1: 139,350,781 (GRCm39) probably benign Het
Zfp119b A G 17: 56,246,536 (GRCm39) S217P possibly damaging Het
Other mutations in Whamm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Whamm APN 7 81,228,014 (GRCm39) missense probably damaging 1.00
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
R9436:Whamm UTSW 7 81,221,063 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GAAGGCAGCCAGTATGCTTTG -3'
(R):5'- CGGGCATAAGGATTTCTTTGTCTC -3'

Sequencing Primer
(F):5'- AGCCAGTATGCTTTGCAGTTTTC -3'
(R):5'- AAGGATTTCTTTGTCTCATGTATGTC -3'
Posted On 2022-05-16