Incidental Mutation 'R3753:Gask1a'
ID 271320
Institutional Source Beutler Lab
Gene Symbol Gask1a
Ensembl Gene ENSMUSG00000038233
Gene Name golgi associated kinase 1A
Synonyms C730027P07Rik, Fam198a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R3753 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 121780054-121809275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121794899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 351 (D351V)
Ref Sequence ENSEMBL: ENSMUSP00000150724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043011] [ENSMUST00000213773] [ENSMUST00000214536] [ENSMUST00000215990]
AlphaFold Q3UY90
Predicted Effect probably damaging
Transcript: ENSMUST00000043011
AA Change: D351V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040221
Gene: ENSMUSG00000038233
AA Change: D351V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 183 194 N/A INTRINSIC
Pfam:FAM198 220 544 1.3e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213773
AA Change: D351V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214536
AA Change: D351V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214808
Predicted Effect probably damaging
Transcript: ENSMUST00000215990
AA Change: D351V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1038 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Acp7 T A 7: 28,316,085 (GRCm39) Y167F probably damaging Het
Acsl1 A T 8: 46,966,602 (GRCm39) probably benign Het
Bcr T C 10: 74,971,772 (GRCm39) V599A probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep152 A G 2: 125,466,972 (GRCm39) probably benign Het
Cstf2t T G 19: 31,060,695 (GRCm39) L77R probably damaging Het
Drd3 C T 16: 43,637,466 (GRCm39) R254W probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fam187a C T 11: 102,776,675 (GRCm39) P160S probably benign Het
Fat1 G A 8: 45,478,516 (GRCm39) E2521K probably damaging Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Flii T C 11: 60,606,306 (GRCm39) D1128G probably benign Het
Gata3 T A 2: 9,873,651 (GRCm39) H281L probably benign Het
Iqsec3 C T 6: 121,353,214 (GRCm39) A1135T probably benign Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nbn G A 4: 15,964,269 (GRCm39) V115I probably damaging Het
Nfyc G T 4: 120,622,527 (GRCm39) probably benign Het
Nup210 A T 6: 90,998,377 (GRCm39) probably null Het
Or2g1 T C 17: 38,107,123 (GRCm39) S263P possibly damaging Het
Or2t48 C T 11: 58,420,516 (GRCm39) A99T probably benign Het
Or8j3b C T 2: 86,205,259 (GRCm39) V166I possibly damaging Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Plce1 T C 19: 38,640,278 (GRCm39) V508A probably benign Het
Prmt2 G T 10: 76,061,137 (GRCm39) D116E probably benign Het
Prss51 T A 14: 64,333,624 (GRCm39) probably benign Het
Prune2 T A 19: 17,102,818 (GRCm39) V2659D probably benign Het
Ptpn3 C T 4: 57,270,144 (GRCm39) R6H probably damaging Het
Ramac C T 7: 81,417,395 (GRCm39) R32C probably damaging Het
Rdh12 C T 12: 79,260,446 (GRCm39) R181* probably null Het
Rsf1 T A 7: 97,311,359 (GRCm39) D696E probably benign Het
Sh3rf2 C T 18: 42,244,373 (GRCm39) R280C probably damaging Het
Slco6d1 T A 1: 98,427,502 (GRCm39) I611K probably damaging Het
Snph G A 2: 151,435,374 (GRCm39) P449L probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
Swap70 T A 7: 109,867,088 (GRCm39) W297R probably damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tcstv2c A T 13: 120,616,167 (GRCm39) D2V possibly damaging Het
Tox2 T A 2: 163,156,243 (GRCm39) I138N probably damaging Het
Trim54 A C 5: 31,291,488 (GRCm39) E203A probably damaging Het
Vmn2r19 A T 6: 123,292,548 (GRCm39) T197S possibly damaging Het
Vmn2r28 T A 7: 5,491,026 (GRCm39) H407L probably damaging Het
Wdr19 G A 5: 65,382,069 (GRCm39) V430M probably damaging Het
Other mutations in Gask1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Gask1a APN 9 121,807,401 (GRCm39) missense probably damaging 1.00
IGL01722:Gask1a APN 9 121,794,149 (GRCm39) missense possibly damaging 0.92
IGL02733:Gask1a APN 9 121,794,094 (GRCm39) missense probably benign 0.00
R0514:Gask1a UTSW 9 121,807,418 (GRCm39) missense possibly damaging 0.62
R1344:Gask1a UTSW 9 121,807,452 (GRCm39) missense probably damaging 0.98
R1868:Gask1a UTSW 9 121,794,493 (GRCm39) missense possibly damaging 0.71
R2279:Gask1a UTSW 9 121,794,668 (GRCm39) missense probably benign 0.00
R3237:Gask1a UTSW 9 121,793,935 (GRCm39) missense possibly damaging 0.83
R4967:Gask1a UTSW 9 121,794,784 (GRCm39) missense probably damaging 1.00
R5192:Gask1a UTSW 9 121,794,727 (GRCm39) missense probably benign
R5196:Gask1a UTSW 9 121,794,727 (GRCm39) missense probably benign
R5560:Gask1a UTSW 9 121,807,289 (GRCm39) missense possibly damaging 0.94
R5588:Gask1a UTSW 9 121,794,247 (GRCm39) nonsense probably null
R5689:Gask1a UTSW 9 121,794,754 (GRCm39) missense probably damaging 1.00
R7017:Gask1a UTSW 9 121,795,052 (GRCm39) critical splice donor site probably null
R7037:Gask1a UTSW 9 121,794,592 (GRCm39) missense possibly damaging 0.61
R7041:Gask1a UTSW 9 121,794,467 (GRCm39) missense probably damaging 0.98
R7045:Gask1a UTSW 9 121,794,707 (GRCm39) missense probably damaging 1.00
R7170:Gask1a UTSW 9 121,807,301 (GRCm39) missense probably damaging 1.00
R7505:Gask1a UTSW 9 121,805,483 (GRCm39) missense probably benign 0.00
R7704:Gask1a UTSW 9 121,780,151 (GRCm39) start gained probably benign
R7751:Gask1a UTSW 9 121,793,887 (GRCm39) missense probably benign 0.01
R9655:Gask1a UTSW 9 121,794,170 (GRCm39) missense probably benign 0.09
R9763:Gask1a UTSW 9 121,805,421 (GRCm39) missense probably damaging 1.00
V1662:Gask1a UTSW 9 121,794,091 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGACCTGCATGAAGTCCTATC -3'
(R):5'- TCTAGCACTGTGGGGAGTAG -3'

Sequencing Primer
(F):5'- ATGAAGTCCTATCCTTCCACCTGG -3'
(R):5'- CACTGTGGGGAGTAGGCATC -3'
Posted On 2015-03-18