Mutagenetix > Incidental Mutation

Incidental Mutation 'R9499:Abhd6'

717445

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 #

R9499 (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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Arhgef17	T	C	7: 100,526,102 (GRCm39)	M851V	possibly damaging	Het
Arhgef5	A	T	6: 43,260,940 (GRCm39)	H1455L		Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cyp2j7	C	T	4: 96,115,840 (GRCm39)	R202H	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Dnaaf11	T	C	15: 66,361,483 (GRCm39)	E6G	probably damaging	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Ercc6	C	T	14: 32,284,525 (GRCm39)	R763C	probably damaging	Het
Gm14401	C	T	2: 176,778,337 (GRCm39)	A141V	probably benign	Het
Gm14496	A	G	2: 181,638,179 (GRCm39)	K418E	probably benign	Het
Gm8159	T	A	14: 15,850,264 (GRCm39)	I161K	probably damaging	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	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
Inpp5f	A	T	7: 128,295,437 (GRCm39)	I744F	possibly damaging	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mbl2	G	A	19: 30,216,664 (GRCm39)	A159T	probably damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mtor	C	T	4: 148,599,397 (GRCm39)	R1482C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly 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
Patl1	T	A	19: 11,897,728 (GRCm39)	M105K	possibly damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Plin1	T	C	7: 79,372,544 (GRCm39)	N343D	probably benign	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Rexo5	A	G	7: 119,404,480 (GRCm39)	E192G	probably damaging	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	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
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Stc2	A	G	11: 31,310,332 (GRCm39)	S235P	probably benign	Het
Sult2a8	A	C	7: 14,157,487 (GRCm39)	V116G	probably damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,950,933 (GRCm39)		probably benign	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	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
Vmn1r24	T	A	6: 57,933,150 (GRCm39)	I123F	possibly damaging	Het
Vmn2r9	T	A	5: 108,995,584 (GRCm39)	N355Y	probably damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp710	A	G	7: 79,731,621 (GRCm39)	E266G	probably damaging	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zscan4c	T	C	7: 10,740,853 (GRCm39)	V124A	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
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'- TGTCTCTGGACTCAGGATCC -3'
(R):5'- TGCCATGCTCACAGGCAAAC -3'

Sequencing Primer
(F):5'- TGGACTCAGGATCCTCTCC -3'
(R):5'- ACAAGATGTATATCCTTCATCGTTTG -3'

Posted On

2022-07-18