Mutagenetix > Incidental Mutation

Incidental Mutation 'R9552:Abhd6'

720568

Institutional Source

Beutler Lab

Gene Symbol

Abhd6

Ensembl Gene

ENSMUSG00000025277

Gene Name

abhydrolase domain containing 6

Synonyms

0610041D24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14413010-14466871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8028329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 20 (I20T)

Ref Sequence

ENSEMBL: ENSMUSP00000026313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026313] [ENSMUST00000166497] [ENSMUST00000225234]

AlphaFold

Q8R2Y0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026313
AA Change: I20T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026313
Gene: ENSMUSG00000025277
AA Change: I20T

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000166497
AA Change: I20T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129169
Gene: ENSMUSG00000025277
AA Change: I20T

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adamts1	A	G	16: 85,599,505 (GRCm39)	S32P	probably benign	Het
Ak7	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	12: 105,676,448 (GRCm39)		probably benign	Het
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cnbp	A	G	6: 87,822,108 (GRCm39)	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Cyp2j7	C	T	4: 96,115,840 (GRCm39)	R202H	probably damaging	Het
Edrf1	A	G	7: 133,240,742 (GRCm39)	D73G	probably damaging	Het
Ercc6	C	T	14: 32,284,525 (GRCm39)	R763C	probably damaging	Het
Gm8159	T	A	14: 15,850,264 (GRCm39)	I161K	probably damaging	Het
Gramd1c	A	T	16: 43,807,294 (GRCm39)	M356K	probably damaging	Het
Has2	T	C	15: 56,531,090 (GRCm39)	K542E	probably benign	Het
Hipk3	T	C	2: 104,301,850 (GRCm39)	N114S	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kcnh5	T	C	12: 75,023,334 (GRCm39)	Y578C	probably benign	Het
Lctl	A	G	9: 64,025,049 (GRCm39)	I12V	probably benign	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mef2c	A	G	13: 83,810,461 (GRCm39)	N371S	probably benign	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Ndst1	G	T	18: 60,845,931 (GRCm39)	T126K	probably damaging	Het
Nid1	T	A	13: 13,677,045 (GRCm39)	I995N	probably damaging	Het
Nr2e1	A	T	10: 42,447,487 (GRCm39)	M175K	probably benign	Het
Nrxn1	T	C	17: 90,937,450 (GRCm39)	K669R	probably damaging	Het
Or5d14	C	T	2: 87,880,509 (GRCm39)	W153*	probably null	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rapgef4	A	G	2: 72,008,561 (GRCm39)	I246M	probably benign	Het
Rnasel	T	A	1: 153,630,673 (GRCm39)	N396K	possibly damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slitrk5	C	T	14: 111,916,496 (GRCm39)	T40I	probably benign	Het
Slu7	G	A	11: 43,329,095 (GRCm39)	V106I	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Stc2	A	G	11: 31,310,332 (GRCm39)	S235P	probably benign	Het
Stt3a	T	C	9: 36,645,675 (GRCm39)	D672G	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tcf15	T	C	2: 151,986,039 (GRCm39)	L165P	probably damaging	Het
Tgm1	T	C	14: 55,950,933 (GRCm39)		probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmco4	G	A	4: 138,779,895 (GRCm39)	V447M	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Unc80	A	G	1: 66,717,282 (GRCm39)	D2946G	possibly damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Wdr49	T	C	3: 75,230,931 (GRCm39)	D577G	probably benign	Het
Wnt10b	C	A	15: 98,670,713 (GRCm39)	G272W	probably damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	Het

Other mutations in Abhd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R2011:Abhd6	UTSW	14	8,042,742 (GRCm38)	missense	probably benign	0.07
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
R9601:Abhd6	UTSW	14	8,049,808 (GRCm38)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TCTGGACTCAGGATCCTCTC -3'
(R):5'- AAAGAGTTGCCATGCTCACAG -3'

Sequencing Primer
(F):5'- GGATCCTCTCCTTTCCAATTCTTC -3'
(R):5'- TGCCATGCTCACAGGCAAAC -3'

Posted On

2022-08-09