Incidental Mutation 'R2011:Abhd6'
ID 219782
Institutional Source Beutler Lab
Gene Symbol Abhd6
Ensembl Gene ENSMUSG00000025277
Gene Name abhydrolase domain containing 6
Synonyms 0610041D24Rik
MMRRC Submission 040020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2011 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 14413010-14466871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8042742 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 100 (T100S)
Ref Sequence ENSEMBL: ENSMUSP00000153068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026313] [ENSMUST00000166497] [ENSMUST00000225234]
AlphaFold Q8R2Y0
Predicted Effect probably benign
Transcript: ENSMUST00000026313
AA Change: T147S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000026313
Gene: ENSMUSG00000025277
AA Change: T147S

DomainStartEndE-ValueType
Pfam:Hydrolase_4 68 313 6.4e-17 PFAM
Pfam:Abhydrolase_1 72 193 3.8e-17 PFAM
Pfam:Abhydrolase_5 73 307 1e-17 PFAM
Pfam:Abhydrolase_6 74 319 9e-22 PFAM
Pfam:Abhydrolase_1 222 313 1.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166497
AA Change: T147S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129169
Gene: ENSMUSG00000025277
AA Change: T147S

DomainStartEndE-ValueType
Pfam:Lipase 51 183 1.1e-8 PFAM
Pfam:Abhydrolase_5 73 307 8e-18 PFAM
Pfam:Abhydrolase_6 74 319 1.7e-39 PFAM
Pfam:Abhydrolase_1 98 322 3.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225234
AA Change: T100S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T C 12: 113,508,998 (GRCm39) I457T probably benign Het
Aff3 T C 1: 38,246,996 (GRCm39) N863S probably benign Het
Agk C A 6: 40,353,168 (GRCm39) D177E probably benign Het
Alg9 C T 9: 50,699,500 (GRCm39) A209V probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Bpi A T 2: 158,103,272 (GRCm39) H89L probably damaging Het
C1qtnf1 T A 11: 118,339,110 (GRCm39) F260Y probably benign Het
Cblc T A 7: 19,518,747 (GRCm39) D452V probably benign Het
Ccar1 T C 10: 62,612,473 (GRCm39) T231A probably benign Het
Ccdc112 A G 18: 46,420,499 (GRCm39) L417P probably damaging Het
Ccdc34 G A 2: 109,874,649 (GRCm39) R336Q possibly damaging Het
CK137956 A G 4: 127,844,829 (GRCm39) S305P probably benign Het
Clip2 T C 5: 134,531,969 (GRCm39) D612G probably damaging Het
Col28a1 T C 6: 8,059,360 (GRCm39) T692A probably benign Het
Copg2 A T 6: 30,793,676 (GRCm39) probably null Het
Ctnna2 T A 6: 76,950,774 (GRCm39) I566F possibly damaging Het
Cux2 C T 5: 121,999,389 (GRCm39) D1184N probably benign Het
Dclk3 A G 9: 111,297,422 (GRCm39) E322G probably benign Het
Ddx41 A T 13: 55,681,906 (GRCm39) probably null Het
Dnaaf2 G A 12: 69,243,559 (GRCm39) P107S probably damaging Het
Eif2ak4 A G 2: 118,261,428 (GRCm39) E578G probably damaging Het
Exd1 A G 2: 119,359,144 (GRCm39) probably benign Het
Fat2 G A 11: 55,173,583 (GRCm39) P2377S probably damaging Het
Fbxl18 T C 5: 142,858,214 (GRCm39) T741A probably benign Het
Fgr C A 4: 132,724,832 (GRCm39) A311E probably damaging Het
Fmo4 T C 1: 162,626,458 (GRCm39) T363A probably damaging Het
Fsbp T C 4: 11,584,006 (GRCm39) V235A probably benign Het
Gm1110 T A 9: 26,805,554 (GRCm39) H366L probably benign Het
Gm43302 T C 5: 105,438,846 (GRCm39) N14S probably damaging Het
Gm5422 A G 10: 31,124,764 (GRCm39) noncoding transcript Het
Gm57858 A T 3: 36,064,827 (GRCm39) C515* probably null Het
Gpr21 A G 2: 37,407,547 (GRCm39) E31G probably damaging Het
Gucy1b2 G T 14: 62,646,207 (GRCm39) N560K probably damaging Het
Hmcn1 T C 1: 150,553,085 (GRCm39) Q2535R probably benign Het
Hnrnpm A T 17: 33,883,598 (GRCm39) N264K probably damaging Het
Hyal6 A T 6: 24,734,723 (GRCm39) I219L possibly damaging Het
Ifi211 A G 1: 173,735,169 (GRCm39) S87P probably damaging Het
Il17rb A T 14: 29,718,797 (GRCm39) C428* probably null Het
Iqca1 T C 1: 89,973,348 (GRCm39) N808S probably benign Het
Kcnu1 A G 8: 26,408,470 (GRCm39) I94V probably benign Het
Lrba A T 3: 86,217,324 (GRCm39) E517V probably damaging Het
Mcidas A G 13: 113,130,515 (GRCm39) E37G possibly damaging Het
Med23 T A 10: 24,755,653 (GRCm39) F83L possibly damaging Het
Micu2 T C 14: 58,191,590 (GRCm39) probably null Het
Mrgprx2 A T 7: 48,132,282 (GRCm39) C179S probably damaging Het
Myo6 A G 9: 80,215,004 (GRCm39) T1236A probably damaging Het
Myo7a A T 7: 97,703,915 (GRCm39) V1946E possibly damaging Het
Nek10 A T 14: 14,885,122 (GRCm38) Y695F probably damaging Het
Nr3c2 A T 8: 77,636,422 (GRCm39) I508F possibly damaging Het
Or11g27 T C 14: 50,771,141 (GRCm39) S91P probably damaging Het
Or14a260 A T 7: 85,984,955 (GRCm39) Y216* probably null Het
Or2ag13 T C 7: 106,472,634 (GRCm39) I273V probably benign Het
Or5w1b A T 2: 87,476,233 (GRCm39) I78N probably damaging Het
Or8k23 A T 2: 86,186,530 (GRCm39) H65Q possibly damaging Het
Or9s13 T C 1: 92,548,471 (GRCm39) V281A probably benign Het
Oxct1 T C 15: 4,183,243 (GRCm39) S485P probably benign Het
Oxt A G 2: 130,418,572 (GRCm39) D61G probably damaging Het
P2ry10 A C X: 106,146,241 (GRCm39) I59L probably damaging Het
Parp11 A G 6: 127,454,854 (GRCm39) N124S probably benign Het
Pcdh7 T A 5: 57,876,971 (GRCm39) N175K probably damaging Het
Pdgfrb T A 18: 61,194,566 (GRCm39) S114R probably benign Het
Pfdn5 A G 15: 102,234,956 (GRCm39) N54S possibly damaging Het
Phc2 T A 4: 128,617,378 (GRCm39) V468E probably benign Het
Piezo2 T C 18: 63,192,815 (GRCm39) T1605A probably damaging Het
Pik3cb A T 9: 98,987,632 (GRCm39) Y35* probably null Het
Piwil2 A T 14: 70,664,083 (GRCm39) M22K probably damaging Het
Plag1 A G 4: 3,904,889 (GRCm39) F101L probably damaging Het
Pomt2 A G 12: 87,158,173 (GRCm39) L680P possibly damaging Het
Ppp1r36 A G 12: 76,465,700 (GRCm39) probably null Het
Prkag2 C T 5: 25,076,052 (GRCm39) probably null Het
Prkg1 T C 19: 31,641,542 (GRCm39) D47G possibly damaging Het
Prl6a1 G A 13: 27,499,352 (GRCm39) G45D probably benign Het
Rbm20 G A 19: 53,847,859 (GRCm39) C1135Y probably damaging Het
Recql5 A T 11: 115,787,923 (GRCm39) N465K probably benign Het
Rlig1 T G 10: 100,419,820 (GRCm39) D58A probably damaging Het
Rtcb A T 10: 85,777,797 (GRCm39) I459N probably damaging Het
Rtp3 A T 9: 110,815,102 (GRCm39) probably benign Het
Rundc3b T A 5: 8,562,409 (GRCm39) probably null Het
Scube3 A G 17: 28,387,132 (GRCm39) T877A probably damaging Het
Sh2d4a A T 8: 68,799,394 (GRCm39) Q421L probably benign Het
Siglec1 A T 2: 130,925,277 (GRCm39) Y395N probably damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Slco1c1 T A 6: 141,500,833 (GRCm39) F437L probably benign Het
Slco3a1 G A 7: 73,996,419 (GRCm39) A329V probably benign Het
Spag9 T A 11: 93,983,201 (GRCm39) L504* probably null Het
Spen A T 4: 141,200,640 (GRCm39) N2662K probably damaging Het
Sptb G C 12: 76,679,246 (GRCm39) R70G possibly damaging Het
Stk3 A G 15: 35,072,644 (GRCm39) S136P probably damaging Het
Synj1 A T 16: 90,735,584 (GRCm39) F1456L probably damaging Het
Tbx5 T C 5: 119,979,971 (GRCm39) probably null Het
Tchh G A 3: 93,354,268 (GRCm39) R1236Q unknown Het
Timd4 C A 11: 46,710,857 (GRCm39) T253K possibly damaging Het
Tmc6 A G 11: 117,660,232 (GRCm39) Y669H probably damaging Het
Tmem151a C T 19: 5,132,966 (GRCm39) R80H probably benign Het
Tpgs1 T C 10: 79,511,722 (GRCm39) L288P probably damaging Het
Trhde T C 10: 114,334,698 (GRCm39) I659V probably benign Het
Trpm7 A T 2: 126,665,917 (GRCm39) Y896* probably null Het
Ttc5 C A 14: 51,019,007 (GRCm39) E37* probably null Het
Uvrag A G 7: 98,589,096 (GRCm39) probably null Het
Vmn1r59 T A 7: 5,457,283 (GRCm39) D159V probably damaging Het
Vmn2r78 G A 7: 86,604,287 (GRCm39) V822M possibly damaging Het
Vnn1 C A 10: 23,770,869 (GRCm39) Y32* probably null Het
Wrn A G 8: 33,726,432 (GRCm39) V1380A probably benign Het
Zc3h14 A C 12: 98,746,527 (GRCm39) S579R possibly damaging Het
Zfp277 G A 12: 40,367,217 (GRCm39) Q480* probably null Het
Zfp456 G A 13: 67,514,993 (GRCm39) Q238* probably null Het
Zranb3 T A 1: 128,019,638 (GRCm39) T35S probably benign Het
Other mutations in Abhd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Abhd6 APN 14 8,039,849 (GRCm38) missense probably damaging 0.96
R1757:Abhd6 UTSW 14 8,049,867 (GRCm38) missense probably damaging 1.00
R2425:Abhd6 UTSW 14 8,049,857 (GRCm38) missense probably benign 0.29
R3810:Abhd6 UTSW 14 8,045,603 (GRCm38) missense probably benign 0.01
R4809:Abhd6 UTSW 14 8,039,771 (GRCm38) start codon destroyed probably null 1.00
R5841:Abhd6 UTSW 14 8,049,596 (GRCm38) missense probably benign 0.02
R5878:Abhd6 UTSW 14 8,028,286 (GRCm38) missense probably benign 0.13
R6439:Abhd6 UTSW 14 8,055,589 (GRCm38) missense probably damaging 1.00
R6582:Abhd6 UTSW 14 8,042,828 (GRCm38) critical splice donor site probably null
R6582:Abhd6 UTSW 14 8,042,826 (GRCm38) missense probably damaging 1.00
R6924:Abhd6 UTSW 14 8,049,850 (GRCm38) missense possibly damaging 0.71
R7684:Abhd6 UTSW 14 8,039,807 (GRCm38) missense probably damaging 1.00
R7844:Abhd6 UTSW 14 8,039,792 (GRCm38) missense probably benign 0.22
R8093:Abhd6 UTSW 14 8,028,353 (GRCm38) missense probably damaging 0.98
R8992:Abhd6 UTSW 14 8,028,282 (GRCm38) missense probably benign 0.10
R9499:Abhd6 UTSW 14 8,028,329 (GRCm38) missense possibly damaging 0.80
R9552:Abhd6 UTSW 14 8,028,329 (GRCm38) missense possibly damaging 0.80
R9601:Abhd6 UTSW 14 8,049,808 (GRCm38) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- AGTACATATCTGTCACAGGGCTC -3'
(R):5'- TGCCTCTGAAGTCTATCTACCAG -3'

Sequencing Primer
(F):5'- TATCTGTCACAGGGCTCAACTAGG -3'
(R):5'- AGTCTATCTACCAGGAGGATAGC -3'
Posted On 2014-08-25