Incidental Mutation 'V8831:Ahsa1'
ID 44629
Institutional Source Beutler Lab
Gene Symbol Ahsa1
Ensembl Gene ENSMUSG00000021037
Gene Name AHA1, activator of heat shock protein ATPase 1
Synonyms Aha1, p38
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # V8831 () of strain 710
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 87313253-87320772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87316697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 107 (N107S)
Ref Sequence ENSEMBL: ENSMUSP00000021425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021425] [ENSMUST00000072744] [ENSMUST00000179379] [ENSMUST00000223352]
AlphaFold Q8BK64
Predicted Effect probably damaging
Transcript: ENSMUST00000021425
AA Change: N107S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021425
Gene: ENSMUSG00000021037
AA Change: N107S

DomainStartEndE-ValueType
Aha1_N 29 161 1.16e-56 SMART
low complexity region 187 199 N/A INTRINSIC
Pfam:AHSA1 216 332 2.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072744
SMART Domains Protein: ENSMUSP00000072527
Gene: ENSMUSG00000021038

DomainStartEndE-ValueType
Pfam:Golgin_A5 24 489 3.7e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179379
SMART Domains Protein: ENSMUSP00000137190
Gene: ENSMUSG00000021038

DomainStartEndE-ValueType
Pfam:Golgin_A5 24 470 4.3e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223239
Predicted Effect probably benign
Transcript: ENSMUST00000223352
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 A G 11: 97,347,371 (GRCm39) I690V probably benign Het
Bard1 G A 1: 71,127,376 (GRCm39) P78S probably damaging Het
Ccar1 G A 10: 62,583,185 (GRCm39) T976I unknown Het
Cdc7 T A 5: 107,116,776 (GRCm39) N50K probably benign Het
Cep85 C T 4: 133,883,380 (GRCm39) E170K possibly damaging Het
Cpsf2 C T 12: 101,969,400 (GRCm39) R757C probably damaging Het
Csmd3 A T 15: 48,321,092 (GRCm39) D239E probably damaging Het
Dnah7b T G 1: 46,412,458 (GRCm39) Y4022* probably null Het
Elmo3 A G 8: 106,033,693 (GRCm39) N179S probably benign Het
H2bc11 G C 13: 22,227,451 (GRCm39) probably benign Het
H2-T24 T A 17: 36,328,216 (GRCm39) Q89L probably damaging Het
Irak4 T C 15: 94,459,365 (GRCm39) I327T probably damaging Het
Itpr2 A T 6: 146,287,380 (GRCm39) L157Q probably damaging Het
Lama1 G A 17: 68,059,878 (GRCm39) D656N probably benign Het
Lrrc72 G T 12: 36,258,656 (GRCm39) T67K possibly damaging Het
Map2 T G 1: 66,455,004 (GRCm39) I1298S probably damaging Het
Mroh2a T TN 1: 88,183,889 (GRCm39) probably null Het
Ndst1 G A 18: 60,835,999 (GRCm39) A428V probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Or2w1b T C 13: 21,300,173 (GRCm39) Y104H possibly damaging Het
Or5k14 G T 16: 58,693,438 (GRCm39) T25K probably benign Het
Or5p4 C T 7: 107,680,742 (GRCm39) A247V probably benign Het
Plxna1 A G 6: 89,334,119 (GRCm39) V170A probably damaging Het
Rfx6 G A 10: 51,594,304 (GRCm39) probably null Het
Shprh G A 10: 11,062,606 (GRCm39) D1238N probably damaging Het
Slc15a2 A G 16: 36,772,445 (GRCm38) M179T probably benign Het
Slc9c1 A T 16: 45,398,262 (GRCm39) I676F possibly damaging Het
Smoc1 A G 12: 81,215,029 (GRCm39) D305G probably damaging Het
Spdef C T 17: 27,937,051 (GRCm39) R184H probably damaging Het
Stxbp4 C T 11: 90,371,497 (GRCm39) A535T probably benign Het
Tcp11l1 C G 2: 104,515,829 (GRCm39) V345L probably benign Het
Ticam1 TC T 17: 56,576,969 (GRCm39) 708 probably null Het
Ttc28 A T 5: 111,248,578 (GRCm39) Y177F probably benign Het
Ugt2b34 A T 5: 87,054,533 (GRCm39) Y83N probably benign Het
Vmn2r30 G A 7: 7,337,148 (GRCm39) R163C probably benign Het
Xirp1 T G 9: 120,016,907 (GRCm38) Q970P probably benign Het
Other mutations in Ahsa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB001:Ahsa1 UTSW 12 87,317,230 (GRCm39) critical splice donor site probably null
BB011:Ahsa1 UTSW 12 87,317,230 (GRCm39) critical splice donor site probably null
R0780:Ahsa1 UTSW 12 87,315,102 (GRCm39) missense probably benign 0.20
R4817:Ahsa1 UTSW 12 87,319,940 (GRCm39) missense possibly damaging 0.83
R7021:Ahsa1 UTSW 12 87,318,154 (GRCm39) missense possibly damaging 0.77
R7133:Ahsa1 UTSW 12 87,317,116 (GRCm39) missense probably benign 0.00
R7437:Ahsa1 UTSW 12 87,314,930 (GRCm39) missense probably damaging 1.00
R7924:Ahsa1 UTSW 12 87,317,230 (GRCm39) critical splice donor site probably null
R8203:Ahsa1 UTSW 12 87,315,042 (GRCm39) missense probably damaging 0.97
R8397:Ahsa1 UTSW 12 87,320,451 (GRCm39) nonsense probably null
R8779:Ahsa1 UTSW 12 87,319,973 (GRCm39) missense probably benign 0.01
R8964:Ahsa1 UTSW 12 87,318,131 (GRCm39) missense probably damaging 1.00
R9340:Ahsa1 UTSW 12 87,315,053 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCCCAGAGTGGAGGGTCACAAG -3'
(R):5'- GCTCATCTTTGGCAAGGCTCACAC -3'

Sequencing Primer
(F):5'- GAAGCCTAAGTAGGACACTGCTC -3'
(R):5'- TACATACAAGTTGCTCGGGAC -3'
Posted On 2013-06-11