Incidental Mutation 'R4817:Ahsa1'
ID 369934
Institutional Source Beutler Lab
Gene Symbol Ahsa1
Ensembl Gene ENSMUSG00000021037
Gene Name AHA1, activator of heat shock protein ATPase 1
Synonyms Aha1, p38
MMRRC Submission 042435-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4817 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 87313253-87320772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87319940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 245 (D245G)
Ref Sequence ENSEMBL: ENSMUSP00000021425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021425] [ENSMUST00000223352]
AlphaFold Q8BK64
Predicted Effect possibly damaging
Transcript: ENSMUST00000021425
AA Change: D245G

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021425
Gene: ENSMUSG00000021037
AA Change: D245G

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 noncoding transcript
Transcript: ENSMUST00000222728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223239
Predicted Effect probably benign
Transcript: ENSMUST00000223352
Meta Mutation Damage Score 0.0710 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (108/112)
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp2 T A 2: 91,033,963 (GRCm39) D44E probably damaging Het
Acp5 T C 9: 22,038,379 (GRCm39) I307M probably benign Het
Ankrd40 A G 11: 94,230,459 (GRCm39) K316E probably benign Het
Apol9b G A 15: 77,620,088 (GRCm39) E295K possibly damaging Het
Aqp4 C A 18: 15,532,815 (GRCm39) G93C probably damaging Het
Arhgap21 A G 2: 20,854,967 (GRCm39) V1465A probably benign Het
Arhgap5 C T 12: 52,565,992 (GRCm39) P988S possibly damaging Het
Asxl3 A C 18: 22,658,511 (GRCm39) K2174Q probably damaging Het
Brf1 A T 12: 112,935,921 (GRCm39) I250N probably damaging Het
Calm1 A G 12: 100,169,832 (GRCm39) probably null Het
Ccdc33 C T 9: 57,974,818 (GRCm39) V352M probably damaging Het
Ccdc88a G T 11: 29,410,907 (GRCm39) K464N probably benign Het
Cdadc1 AGACGGA AGA 14: 59,806,440 (GRCm39) probably null Het
Cdc25b T A 2: 131,035,223 (GRCm39) I327N probably damaging Het
Cenpf G A 1: 189,414,566 (GRCm39) H184Y possibly damaging Het
Cimap1d G A 10: 79,475,851 (GRCm39) P238S probably damaging Het
Col6a5 G A 9: 105,811,497 (GRCm39) T674I unknown Het
Creg2 A T 1: 39,662,358 (GRCm39) M258K probably damaging Het
Csf3r T A 4: 125,931,449 (GRCm39) Y477* probably null Het
Cyp3a44 T A 5: 145,740,565 (GRCm39) Y25F possibly damaging Het
Degs2 T A 12: 108,655,325 (GRCm39) R283* probably null Het
Dido1 T C 2: 180,303,209 (GRCm39) N1565S probably benign Het
Dnah6 A T 6: 72,999,407 (GRCm39) M4008K probably benign Het
Dnmbp C A 19: 43,838,411 (GRCm39) G1138V probably benign Het
Drosha A C 15: 12,914,133 (GRCm39) H1136P probably damaging Het
Duox2 T G 2: 122,126,996 (GRCm39) N173T probably damaging Het
Dync1li1 T G 9: 114,534,162 (GRCm39) I87M probably benign Het
E2f8 A C 7: 48,517,494 (GRCm39) S770A probably benign Het
Efemp1 A G 11: 28,876,241 (GRCm39) T469A probably damaging Het
Eif3f A T 7: 108,536,982 (GRCm39) T136S probably damaging Het
Enpp5 T C 17: 44,391,871 (GRCm39) *46R probably null Het
Epb41l4b A G 4: 57,103,428 (GRCm39) V136A probably damaging Het
Fam186a A C 15: 99,831,419 (GRCm39) probably benign Het
Flt4 A G 11: 49,516,242 (GRCm39) Y115C probably damaging Het
Gal T A 19: 3,461,126 (GRCm39) probably null Het
Galnt3 C T 2: 65,923,883 (GRCm39) V462I possibly damaging Het
Gas2l1 A G 11: 5,011,429 (GRCm39) S467P possibly damaging Het
Gbx1 A G 5: 24,731,204 (GRCm39) L204P probably damaging Het
Gle1 T A 2: 29,826,223 (GRCm39) S101T probably benign Het
Gltpd2 A C 11: 70,410,303 (GRCm39) Q87P probably damaging Het
Gm12789 T A 4: 101,846,079 (GRCm39) D113E probably damaging Het
Grin3b G A 10: 79,812,732 (GRCm39) G936R probably benign Het
Gtf3c2 C T 5: 31,331,434 (GRCm39) probably null Het
Gvin3 T A 7: 106,200,437 (GRCm39) noncoding transcript Het
Klhl28 T C 12: 65,004,043 (GRCm39) T157A probably benign Het
Kmt2a A G 9: 44,732,763 (GRCm39) probably benign Het
Lamp1 A G 8: 13,222,541 (GRCm39) T242A probably benign Het
Lhfpl5 T G 17: 28,795,300 (GRCm39) I109S possibly damaging Het
Lhfpl5 T A 17: 28,801,962 (GRCm39) *220R probably null Het
Map4k2 C T 19: 6,394,459 (GRCm39) T313I probably damaging Het
Matn2 A G 15: 34,423,945 (GRCm39) D601G probably damaging Het
Mcur1 C T 13: 43,705,147 (GRCm39) V170M possibly damaging Het
Mphosph10 T C 7: 64,041,969 (GRCm39) probably benign Het
Nat8l G A 5: 34,158,387 (GRCm39) A266T probably benign Het
Nckap5 G T 1: 125,954,952 (GRCm39) D469E possibly damaging Het
Nckap5l G T 15: 99,321,067 (GRCm39) P1238T probably damaging Het
Ngf A G 3: 102,417,156 (GRCm39) probably benign Het
Ntng1 T A 3: 109,842,184 (GRCm39) L196F probably damaging Het
Or2q1 A G 6: 42,794,896 (GRCm39) I164V possibly damaging Het
Or2v2 A T 11: 49,004,448 (GRCm39) V35D probably damaging Het
Pclo A T 5: 14,725,045 (GRCm39) Y1301F unknown Het
Pclo A G 5: 14,763,139 (GRCm39) T3871A unknown Het
Peli3 T C 19: 4,982,594 (GRCm39) E357G probably damaging Het
Pkd1 T A 17: 24,784,348 (GRCm39) probably null Het
Pla2g2c T G 4: 138,461,645 (GRCm39) F38C probably damaging Het
Plekha2 T A 8: 25,549,960 (GRCm39) T126S possibly damaging Het
Polr3f T A 2: 144,376,001 (GRCm39) *142K probably null Het
Ppcs C T 4: 119,276,343 (GRCm39) V81M probably benign Het
Prl7a1 A G 13: 27,819,747 (GRCm39) I169T probably damaging Het
Rbm19 C A 5: 120,271,799 (GRCm39) probably benign Het
Rdh7 T A 10: 127,721,631 (GRCm39) Y215F probably benign Het
Rragd T G 4: 32,995,072 (GRCm39) S62R probably benign Het
Rtel1 T C 2: 180,997,728 (GRCm39) S1114P possibly damaging Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Setbp1 A G 18: 78,902,015 (GRCm39) S551P probably damaging Het
Setd6 T C 8: 96,443,683 (GRCm39) probably benign Het
Slmap A C 14: 26,183,507 (GRCm39) M292R probably damaging Het
Srrm4 T C 5: 116,615,193 (GRCm39) D97G unknown Het
Stk-ps2 G A 1: 46,068,125 (GRCm39) noncoding transcript Het
Syce1 A T 7: 140,358,336 (GRCm39) M204K probably benign Het
Syk A G 13: 52,765,242 (GRCm39) K123R probably benign Het
Tbc1d14 A T 5: 36,729,175 (GRCm39) S64T probably damaging Het
Tmt1a3 A T 15: 100,233,214 (GRCm39) D135V probably damaging Het
Traf3ip3 T C 1: 192,867,137 (GRCm39) K295E probably damaging Het
Trp53bp2 T C 1: 182,269,370 (GRCm39) probably null Het
Tsc2 T A 17: 24,815,716 (GRCm39) probably null Het
Tspyl4 T A 10: 34,173,734 (GRCm39) C75* probably null Het
Uqcc2 T C 17: 27,344,133 (GRCm39) I52V probably benign Het
Vcp T A 4: 42,983,486 (GRCm39) T525S probably damaging Het
Vmn2r18 A T 5: 151,508,897 (GRCm39) probably null Het
Vmp1 A G 11: 86,492,879 (GRCm39) V310A probably benign Het
Vps13d T A 4: 144,795,735 (GRCm39) R3671S probably damaging Het
Wdr3 T C 3: 100,053,861 (GRCm39) T544A possibly damaging Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zfp541 T A 7: 15,824,307 (GRCm39) F1010I probably damaging Het
Zfp64 T C 2: 168,768,032 (GRCm39) T527A probably benign Het
Zyx G T 6: 42,333,421 (GRCm39) R449M probably damaging 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
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
V8831:Ahsa1 UTSW 12 87,316,697 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTCAAAATGGTGCTGAGC -3'
(R):5'- TCTGCCAGAAAATTCAAATCCTAGC -3'

Sequencing Primer
(F):5'- TCAAAATGGTGCTGAGCTCCTAG -3'
(R):5'- CACTGTTTTCCAAAGTATCCCAGAGG -3'
Posted On 2016-02-04