Incidental Mutation 'R7552:Abhd17a'
ID 584489
Institutional Source Beutler Lab
Gene Symbol Abhd17a
Ensembl Gene ENSMUSG00000003346
Gene Name abhydrolase domain containing 17A
Synonyms D10Bwg1364e, Fam108a, 1700013O15Rik
MMRRC Submission 045621-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7552 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80419488-80426175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80419737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 290 (Y290H)
Ref Sequence ENSEMBL: ENSMUSP00000003436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003436] [ENSMUST00000187646] [ENSMUST00000189605] [ENSMUST00000191440]
AlphaFold Q99JW1
Predicted Effect probably benign
Transcript: ENSMUST00000003436
AA Change: Y290H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000003436
Gene: ENSMUSG00000003346
AA Change: Y290H

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 39 55 N/A INTRINSIC
Pfam:Hydrolase_4 108 229 7e-10 PFAM
Pfam:Abhydrolase_5 113 285 7e-31 PFAM
Pfam:DLH 151 285 8e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187646
SMART Domains Protein: ENSMUSP00000140424
Gene: ENSMUSG00000003346

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 39 55 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189605
AA Change: Y156H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141177
Gene: ENSMUSG00000003346
AA Change: Y156H

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
Pfam:Abhydrolase_5 92 151 8.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191440
SMART Domains Protein: ENSMUSP00000139766
Gene: ENSMUSG00000003346

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 39 55 N/A INTRINSIC
Pfam:Abhydrolase_5 113 232 4.9e-14 PFAM
Pfam:Abhydrolase_6 114 228 4e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 T C 15: 81,788,142 (GRCm39) V257A probably damaging Het
Adam26a C A 8: 44,023,007 (GRCm39) C161F possibly damaging Het
Adam9 G A 8: 25,445,988 (GRCm39) P820S unknown Het
Adcy4 G A 14: 56,010,922 (GRCm39) T665M probably benign Het
Ahnak T A 19: 8,984,188 (GRCm39) M1824K probably benign Het
Alpi T C 1: 87,026,795 (GRCm39) N428D probably benign Het
Ano5 C T 7: 51,196,528 (GRCm39) P153L probably benign Het
Atp1a1 A T 3: 101,489,437 (GRCm39) L725* probably null Het
Atp8b2 G A 3: 89,854,071 (GRCm39) T595I probably damaging Het
Ccdc66 T C 14: 27,220,820 (GRCm39) I35V possibly damaging Het
Cd163 A G 6: 124,284,187 (GRCm39) T120A probably benign Het
Cmah A T 13: 24,640,938 (GRCm39) T396S possibly damaging Het
Cmya5 C T 13: 93,205,820 (GRCm39) V3350I probably benign Het
Commd9 A C 2: 101,731,410 (GRCm39) K198N probably damaging Het
Cxcr1 A G 1: 74,231,773 (GRCm39) V83A probably benign Het
D630045J12Rik A G 6: 38,125,383 (GRCm39) S1544P probably damaging Het
Ddt A T 10: 75,609,048 (GRCm39) probably null Het
Depdc7 A G 2: 104,557,585 (GRCm39) S222P possibly damaging Het
Ehd2 A G 7: 15,684,431 (GRCm39) I456T probably damaging Het
Epas1 A T 17: 87,136,471 (GRCm39) M748L probably benign Het
Esr1 G A 10: 4,806,903 (GRCm39) R273H probably damaging Het
Fras1 G A 5: 96,916,297 (GRCm39) D3444N probably damaging Het
Hand2 A G 8: 57,775,272 (GRCm39) R111G probably damaging Het
Hecw1 A T 13: 14,490,835 (GRCm39) V306E probably damaging Het
Ift140 T C 17: 25,252,089 (GRCm39) I312T probably benign Het
Ikbke A T 1: 131,199,887 (GRCm39) L257* probably null Het
Kcnk5 G A 14: 20,192,349 (GRCm39) P271S probably benign Het
Lama1 T C 17: 68,044,662 (GRCm39) V187A Het
Lemd2 A T 17: 27,412,810 (GRCm39) probably null Het
Lig3 T A 11: 82,679,717 (GRCm39) D341E probably benign Het
Lpcat1 C T 13: 73,643,014 (GRCm39) S196L probably damaging Het
Lrp1b A T 2: 40,567,582 (GRCm39) D4048E Het
Lrrfip1 G A 1: 91,033,005 (GRCm39) E158K probably damaging Het
Mcm5 T C 8: 75,848,220 (GRCm39) S490P probably damaging Het
Mia3 A C 1: 183,147,036 (GRCm39) Y73* probably null Het
Minar1 T A 9: 89,483,888 (GRCm39) H503L probably benign Het
Msr1 A T 8: 40,077,003 (GRCm39) N202K probably benign Het
N4bp2l2 A T 5: 150,585,286 (GRCm39) Y231* probably null Het
Nbeal2 A G 9: 110,482,985 (GRCm39) W11R probably benign Het
Ncor1 T C 11: 62,264,250 (GRCm39) E384G possibly damaging Het
Neb A G 2: 52,137,202 (GRCm39) V254A Het
Nlrp9b T C 7: 19,779,691 (GRCm39) S785P probably benign Het
Oprd1 T G 4: 131,841,092 (GRCm39) I289L possibly damaging Het
Or4c10 G T 2: 89,761,064 (GRCm39) D304Y probably benign Het
Or4s2 A G 2: 88,473,752 (GRCm39) I214V probably benign Het
Or5m12 A G 2: 85,734,447 (GRCm39) V317A probably benign Het
Or6a2 T C 7: 106,600,534 (GRCm39) T178A probably benign Het
Or6c2 T A 10: 129,362,429 (GRCm39) F111Y possibly damaging Het
Orc1 A G 4: 108,445,951 (GRCm39) N23S probably benign Het
Paip1 A T 13: 119,577,356 (GRCm39) H149L possibly damaging Het
Pdhx A T 2: 102,877,099 (GRCm39) D103E probably benign Het
Pi4ka T C 16: 17,109,080 (GRCm39) Y1614C Het
Pias3 ACC AC 3: 96,608,701 (GRCm39) probably null Het
Pigb A G 9: 72,941,770 (GRCm39) V163A probably benign Het
Pla2g4d A G 2: 120,114,620 (GRCm39) I37T possibly damaging Het
Ppfia1 A T 7: 144,059,982 (GRCm39) V610D probably damaging Het
Pramel41 G A 5: 94,596,394 (GRCm39) C477Y probably damaging Het
Prss1 T C 6: 41,439,507 (GRCm39) V80A probably benign Het
Psph G A 5: 129,847,800 (GRCm39) R49W probably benign Het
Qrich2 T C 11: 116,347,080 (GRCm39) Y1248C possibly damaging Het
Rlbp1 T A 7: 79,029,861 (GRCm39) Y124F probably damaging Het
Scn4a T A 11: 106,239,995 (GRCm39) E74V probably benign Het
Sdk2 A T 11: 113,764,039 (GRCm39) I249N possibly damaging Het
Sgsh A T 11: 119,237,378 (GRCm39) L412Q probably damaging Het
Shank1 C A 7: 44,002,452 (GRCm39) D1390E probably benign Het
Slc12a6 A G 2: 112,172,319 (GRCm39) D421G probably damaging Het
Snx29 T A 16: 11,238,649 (GRCm39) probably null Het
Spata31d1c A G 13: 65,183,937 (GRCm39) Y493C probably damaging Het
Stmn4 G A 14: 66,593,727 (GRCm39) G40E probably damaging Het
Stox2 A G 8: 47,656,154 (GRCm39) probably null Het
Strada T C 11: 106,077,830 (GRCm39) S45G unknown Het
Taco1 G A 11: 105,962,774 (GRCm39) G154S probably benign Het
Tas2r121 T C 6: 132,677,505 (GRCm39) M156V probably benign Het
Tbc1d31 A G 15: 57,804,136 (GRCm39) S384G probably benign Het
Tbc1d9 A T 8: 83,966,560 (GRCm39) D387V probably damaging Het
Tet3 A G 6: 83,345,289 (GRCm39) L1716P probably damaging Het
Thbs1 A G 2: 117,943,843 (GRCm39) K154E possibly damaging Het
Ush2a T C 1: 187,999,241 (GRCm39) Y184H possibly damaging Het
Vmn1r235 C A 17: 21,481,713 (GRCm39) Q13K probably benign Het
Vmn2r15 A T 5: 109,440,774 (GRCm39) Y361* probably null Het
Vmn2r88 A T 14: 51,648,315 (GRCm39) probably null Het
Vps54 T C 11: 21,248,831 (GRCm39) V460A probably benign Het
Wdr64 A G 1: 175,613,147 (GRCm39) N674S possibly damaging Het
Zfp592 A G 7: 80,673,390 (GRCm39) D118G probably benign Het
Zfp763 A G 17: 33,237,625 (GRCm39) Y507H probably benign Het
Zfp934 T C 13: 62,640,705 (GRCm39) E16G probably damaging Het
Zfyve26 G A 12: 79,337,731 (GRCm39) L94F probably damaging Het
Other mutations in Abhd17a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02065:Abhd17a APN 10 80,422,395 (GRCm39) missense probably benign 0.00
IGL03036:Abhd17a APN 10 80,421,534 (GRCm39) nonsense probably null
R1169:Abhd17a UTSW 10 80,419,781 (GRCm39) missense probably damaging 1.00
R1497:Abhd17a UTSW 10 80,420,164 (GRCm39) splice site probably benign
R1783:Abhd17a UTSW 10 80,419,860 (GRCm39) missense probably benign 0.02
R1819:Abhd17a UTSW 10 80,422,470 (GRCm39) missense probably benign
R2049:Abhd17a UTSW 10 80,421,440 (GRCm39) critical splice donor site probably null
R4326:Abhd17a UTSW 10 80,419,884 (GRCm39) missense probably benign 0.01
R5385:Abhd17a UTSW 10 80,421,446 (GRCm39) missense probably benign 0.20
R6751:Abhd17a UTSW 10 80,422,421 (GRCm39) missense probably damaging 0.98
R7219:Abhd17a UTSW 10 80,420,008 (GRCm39) nonsense probably null
R7343:Abhd17a UTSW 10 80,419,991 (GRCm39) missense possibly damaging 0.89
R8997:Abhd17a UTSW 10 80,422,470 (GRCm39) missense probably benign
R9162:Abhd17a UTSW 10 80,422,577 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGCCTGAACATGGCTCATG -3'
(R):5'- TTTCCCTAAGTGAGCATGGG -3'

Sequencing Primer
(F):5'- TCATGGCCCCTGGGGTG -3'
(R):5'- GCTCCAGCCTGTGCATC -3'
Posted On 2019-10-17