Incidental Mutation 'R7330:Ahsa2'
ID 569196
Institutional Source Beutler Lab
Gene Symbol Ahsa2
Ensembl Gene ENSMUSG00000020288
Gene Name AHA1, activator of heat shock protein ATPase 2
Synonyms 1110064P04Rik
MMRRC Submission 045423-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7330 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 23437882-23448030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23440558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 279 (T279K)
Ref Sequence ENSEMBL: ENSMUSP00000020529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020529] [ENSMUST00000109539] [ENSMUST00000128559] [ENSMUST00000129368] [ENSMUST00000147157] [ENSMUST00000180046]
AlphaFold Q8N9S3
Predicted Effect probably benign
Transcript: ENSMUST00000020529
AA Change: T279K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020529
Gene: ENSMUSG00000020288
AA Change: T279K

DomainStartEndE-ValueType
Aha1_N 29 163 2.52e-57 SMART
Pfam:AHSA1 209 325 1.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109539
AA Change: T231K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105166
Gene: ENSMUSG00000020288
AA Change: T231K

DomainStartEndE-ValueType
Aha1_N 2 115 2.33e-38 SMART
Pfam:AHSA1 161 277 4.3e-22 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000121255
Gene: ENSMUSG00000020288
AA Change: T264K

DomainStartEndE-ValueType
Aha1_N 15 149 2.52e-57 SMART
Pfam:AHSA1 195 311 7.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128559
SMART Domains Protein: ENSMUSP00000115134
Gene: ENSMUSG00000020288

DomainStartEndE-ValueType
Aha1_N 29 159 1.59e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129368
SMART Domains Protein: ENSMUSP00000121426
Gene: ENSMUSG00000056342

DomainStartEndE-ValueType
Blast:Drf_GBD 2 86 1e-19 BLAST
low complexity region 231 244 N/A INTRINSIC
coiled coil region 259 281 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137823
SMART Domains Protein: ENSMUSP00000120747
Gene: ENSMUSG00000056342

DomainStartEndE-ValueType
low complexity region 489 500 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 591 610 N/A INTRINSIC
coiled coil region 626 671 N/A INTRINSIC
low complexity region 827 842 N/A INTRINSIC
low complexity region 1207 1218 N/A INTRINSIC
low complexity region 1399 1410 N/A INTRINSIC
low complexity region 1518 1532 N/A INTRINSIC
low complexity region 1751 1764 N/A INTRINSIC
low complexity region 1812 1824 N/A INTRINSIC
Pfam:UCH 1950 2293 7.6e-44 PFAM
Pfam:UCH_1 1951 2249 3.6e-22 PFAM
low complexity region 2542 2564 N/A INTRINSIC
low complexity region 2672 2679 N/A INTRINSIC
Blast:Drf_GBD 2943 3116 3e-53 BLAST
low complexity region 3344 3357 N/A INTRINSIC
coiled coil region 3371 3393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147157
SMART Domains Protein: ENSMUSP00000121920
Gene: ENSMUSG00000020288

DomainStartEndE-ValueType
Aha1_N 29 138 4.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180046
SMART Domains Protein: ENSMUSP00000137430
Gene: ENSMUSG00000056342

DomainStartEndE-ValueType
low complexity region 469 480 N/A INTRINSIC
low complexity region 510 524 N/A INTRINSIC
low complexity region 571 590 N/A INTRINSIC
coiled coil region 607 652 N/A INTRINSIC
low complexity region 807 822 N/A INTRINSIC
low complexity region 1187 1198 N/A INTRINSIC
low complexity region 1379 1390 N/A INTRINSIC
low complexity region 1498 1512 N/A INTRINSIC
low complexity region 1731 1744 N/A INTRINSIC
low complexity region 1792 1804 N/A INTRINSIC
Pfam:UCH 1930 2273 2.3e-44 PFAM
Pfam:UCH_1 1931 2229 1.1e-22 PFAM
low complexity region 2522 2544 N/A INTRINSIC
low complexity region 2652 2659 N/A INTRINSIC
Blast:Drf_GBD 2923 3096 2e-53 BLAST
low complexity region 3324 3337 N/A INTRINSIC
coiled coil region 3352 3374 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,977,450 (GRCm39) T411A possibly damaging Het
Ace A G 11: 105,876,887 (GRCm39) H1123R probably damaging Het
Acot12 T A 13: 91,889,651 (GRCm39) M1K probably null Het
Actr2 A T 11: 20,022,544 (GRCm39) M309K probably damaging Het
Ak8 A G 2: 28,702,947 (GRCm39) Y437C possibly damaging Het
Atp1a3 T A 7: 24,700,577 (GRCm39) K5* probably null Het
Bbs2 T A 8: 94,814,033 (GRCm39) E195V possibly damaging Het
C4b T A 17: 34,949,446 (GRCm39) Y1505F probably damaging Het
Camkk1 C G 11: 72,917,873 (GRCm39) N147K probably damaging Het
Cdh18 G A 15: 23,227,036 (GRCm39) V166I possibly damaging Het
Cep135 T A 5: 76,754,592 (GRCm39) C356* probably null Het
Cilp A T 9: 65,187,527 (GRCm39) R1207S probably benign Het
Clcnkb A G 4: 141,137,923 (GRCm39) I291T possibly damaging Het
Clrn3 G T 7: 135,130,198 (GRCm39) S12Y probably damaging Het
Clstn2 G T 9: 97,343,422 (GRCm39) A675D probably benign Het
Cpvl A G 6: 53,951,744 (GRCm39) I13T probably benign Het
Cyp2c68 A G 19: 39,677,634 (GRCm39) I452T probably damaging Het
Dhh A G 15: 98,792,291 (GRCm39) V239A probably damaging Het
Edar T G 10: 58,446,376 (GRCm39) H183P probably damaging Het
Epha2 T A 4: 141,035,764 (GRCm39) S67T probably benign Het
Gapdh A G 6: 125,139,900 (GRCm39) L168P probably benign Het
Grm4 C T 17: 27,653,798 (GRCm39) W717* probably null Het
Gtf3c1 T C 7: 125,303,055 (GRCm39) I127V probably benign Het
Igkv4-72 C T 6: 69,204,087 (GRCm39) A35T probably damaging Het
Il6st T A 13: 112,630,185 (GRCm39) S344T probably benign Het
Ip6k1 A G 9: 107,922,452 (GRCm39) D168G possibly damaging Het
Itpr1 G A 6: 108,415,292 (GRCm39) R1742H probably benign Het
Lat2 T A 5: 134,635,641 (GRCm39) T58S probably damaging Het
Limk2 T C 11: 3,296,311 (GRCm39) K566E probably benign Het
Lonp2 C A 8: 87,358,022 (GRCm39) T81K probably damaging Het
Mdn1 C A 4: 32,723,685 (GRCm39) N2540K probably benign Het
Myt1l T A 12: 29,901,553 (GRCm39) D769E unknown Het
Neb C T 2: 52,079,715 (GRCm39) V5780M possibly damaging Het
Or1j18 T A 2: 36,625,057 (GRCm39) C241* probably null Het
Or5d35 C A 2: 87,855,265 (GRCm39) H66Q possibly damaging Het
Or6c8b C T 10: 128,882,333 (GRCm39) V200M probably damaging Het
Or7g25 T A 9: 19,160,567 (GRCm39) I43F probably benign Het
Pcdhga12 T C 18: 37,901,439 (GRCm39) V757A probably damaging Het
Prpf31 A G 7: 3,642,854 (GRCm39) T448A probably damaging Het
Rbm6 A T 9: 107,668,244 (GRCm39) M694K possibly damaging Het
Ropn1l T C 15: 31,451,349 (GRCm39) Y45C Het
Selenbp1 T A 3: 94,847,021 (GRCm39) D182E probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Spef1 G A 2: 131,014,653 (GRCm39) R90W probably damaging Het
Sspo A G 6: 48,452,396 (GRCm39) S2787G probably benign Het
Stox2 A G 8: 47,645,271 (GRCm39) S730P possibly damaging Het
Syne1 T C 10: 5,078,434 (GRCm39) N997S probably benign Het
Tipin A G 9: 64,195,508 (GRCm39) D38G probably benign Het
Tshz1 T A 18: 84,032,956 (GRCm39) K484M probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttll3 A AAGTAC 6: 113,376,125 (GRCm39) probably null Het
Ttn C T 2: 76,747,355 (GRCm39) V4565I probably benign Het
Ubr7 A G 12: 102,741,971 (GRCm39) I402V probably damaging Het
Ucn3 A T 13: 3,991,216 (GRCm39) N145K possibly damaging Het
Utp18 A T 11: 93,772,899 (GRCm39) probably null Het
Utp20 GAA GA 10: 88,623,424 (GRCm39) probably null Het
Vmn1r189 A G 13: 22,286,711 (GRCm39) I42T possibly damaging Het
Vmn2r91 T C 17: 18,326,429 (GRCm39) M238T probably damaging Het
Washc5 G T 15: 59,205,516 (GRCm39) A1125D probably benign Het
Wsb2 A G 5: 117,508,827 (GRCm39) E87G probably damaging Het
Zfat G A 15: 68,084,600 (GRCm39) P97L probably benign Het
Zfp87 T G 13: 74,523,153 (GRCm39) T22P probably damaging Het
Other mutations in Ahsa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Ahsa2 APN 11 23,446,837 (GRCm39) missense probably damaging 1.00
IGL01512:Ahsa2 APN 11 23,441,582 (GRCm39) missense probably benign 0.01
IGL02542:Ahsa2 APN 11 23,440,559 (GRCm39) missense possibly damaging 0.82
IGL03031:Ahsa2 APN 11 23,440,426 (GRCm39) missense probably benign 0.24
R0454:Ahsa2 UTSW 11 23,440,702 (GRCm39) missense probably damaging 1.00
R4707:Ahsa2 UTSW 11 23,443,162 (GRCm39) missense probably benign 0.08
R5126:Ahsa2 UTSW 11 23,441,036 (GRCm39) missense possibly damaging 0.95
R6561:Ahsa2 UTSW 11 23,441,036 (GRCm39) missense possibly damaging 0.95
R7361:Ahsa2 UTSW 11 23,441,099 (GRCm39) missense probably damaging 1.00
R7615:Ahsa2 UTSW 11 23,446,750 (GRCm39) missense possibly damaging 0.89
R7703:Ahsa2 UTSW 11 23,440,415 (GRCm39) missense probably benign 0.01
R9053:Ahsa2 UTSW 11 23,443,314 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CCTAACTAATTCAAGCATTCTGGG -3'
(R):5'- TGGCATGTAAGCTGGAAGAC -3'

Sequencing Primer
(F):5'- CTAATTCAAGCATTCTGGGCGGTAAG -3'
(R):5'- CAACATTTTCAGTGGAATGTCTCC -3'
Posted On 2019-09-13