Mutagenetix > Incidental Mutation

Incidental Mutation 'R1676:Abhd8'

188087

Institutional Source

Beutler Lab

Gene Symbol

Abhd8

Ensembl Gene

ENSMUSG00000007950

Gene Name

abhydrolase domain containing 8

Synonyms

0910001L24Rik

MMRRC Submission

039712-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1676 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

71909349-71916299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71914517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 37 (D37V)

Ref Sequence

ENSEMBL: ENSMUSP00000008094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008094] [ENSMUST00000048914]

AlphaFold

Q8R0P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000008094
AA Change: D37V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: D37V

Domain	Start	End	E-Value	Type
low complexity region	57	72	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	139	148	N/A	INTRINSIC
Pfam:Hydrolase_4	164	397	2e-17	PFAM
Pfam:Abhydrolase_1	168	289	1.2e-19	PFAM
Pfam:Abhydrolase_5	168	391	2.4e-20	PFAM
Pfam:Abhydrolase_6	170	403	1.4e-17	PFAM
low complexity region	411	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048914

SMART Domains

Protein: ENSMUSP00000044497
Gene: ENSMUSG00000034880

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L34	49	92	1.6e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212503

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	T	11: 58,771,819 (GRCm39)	A434S	possibly damaging	Het
Acvr2a	G	A	2: 48,763,095 (GRCm39)	S97N	probably benign	Het
Ampd3	T	A	7: 110,394,940 (GRCm39)	H296Q	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Cap2	T	G	13: 46,791,335 (GRCm39)	H167Q	probably damaging	Het
Car8	A	G	4: 8,185,616 (GRCm39)	L180S	probably damaging	Het
Casp8	T	A	1: 58,883,575 (GRCm39)	I314N	probably damaging	Het
Cavin2	T	A	1: 51,340,330 (GRCm39)	S336T	probably benign	Het
Cdc14b	A	T	13: 64,373,416 (GRCm39)	I119N	possibly damaging	Het
Cemip	T	A	7: 83,613,246 (GRCm39)	I651F	possibly damaging	Het
Cfap57	T	A	4: 118,453,137 (GRCm39)	D522V	probably damaging	Het
Clrn3	A	T	7: 135,120,307 (GRCm39)	V93D	probably damaging	Het
Crppa	T	C	12: 36,526,720 (GRCm39)	C170R	probably benign	Het
Cyp4f39	A	G	17: 32,701,176 (GRCm39)	D222G	probably benign	Het
D5Ertd579e	A	G	5: 36,773,453 (GRCm39)	V314A	probably benign	Het
Dchs1	C	T	7: 105,404,128 (GRCm39)	V2805I	probably benign	Het
Dsp	A	T	13: 38,377,350 (GRCm39)	K1712*	probably null	Het
Emilin2	T	C	17: 71,581,085 (GRCm39)	D547G	probably benign	Het
Erbb3	T	C	10: 128,419,117 (GRCm39)	H248R	probably benign	Het
Erich3	A	G	3: 154,468,260 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,151,701 (GRCm39)	T2518A	probably damaging	Het
Fzd2	G	A	11: 102,496,707 (GRCm39)	V384M	probably damaging	Het
Gpc5	T	A	14: 115,607,510 (GRCm39)	S371T	probably damaging	Het
Hbb-bh2	T	C	7: 103,488,362 (GRCm39)	K145R	probably null	Het
Hectd1	G	T	12: 51,791,571 (GRCm39)	P2558Q	probably damaging	Het
Hgsnat	C	T	8: 26,444,633 (GRCm39)		probably null	Het
Hirip3	T	C	7: 126,462,647 (GRCm39)		probably null	Het
Itpkc	T	C	7: 26,907,706 (GRCm39)	D666G	probably damaging	Het
Jmjd1c	T	A	10: 67,060,588 (GRCm39)	D693E	probably benign	Het
Katnbl1	T	C	2: 112,236,454 (GRCm39)	L60P	probably damaging	Het
Kcna1	T	A	6: 126,619,645 (GRCm39)	E225V	probably damaging	Het
Kcnj6	T	A	16: 94,633,443 (GRCm39)	M223L	probably damaging	Het
Kcnk7	G	T	19: 5,757,006 (GRCm39)	V332F	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Mdga2	C	A	12: 66,615,546 (GRCm39)	G618V	probably damaging	Het
Mdga2	C	A	12: 66,615,547 (GRCm39)	G618*	probably null	Het
Morc2b	T	C	17: 33,354,955 (GRCm39)	E939G	possibly damaging	Het
Mstn	T	A	1: 53,101,224 (GRCm39)	D100E	probably benign	Het
Mthfd1l	G	A	10: 4,033,877 (GRCm39)		probably null	Het
Muc20	T	A	16: 32,614,649 (GRCm39)	T243S	probably damaging	Het
Myo1d	A	T	11: 80,575,247 (GRCm39)	N156K	probably damaging	Het
Myo7a	A	G	7: 97,748,679 (GRCm39)		probably null	Het
Naa35	A	T	13: 59,760,490 (GRCm39)	Q274L	probably damaging	Het
Ncam1	G	A	9: 49,468,472 (GRCm39)	T329I	probably damaging	Het
Nisch	T	C	14: 30,902,859 (GRCm39)		probably benign	Het
Nlrp1b	A	T	11: 71,073,637 (GRCm39)	W69R	probably benign	Het
Nrap	T	A	19: 56,323,687 (GRCm39)	H1294L	probably damaging	Het
Nsun6	T	A	2: 15,052,024 (GRCm39)	R56*	probably null	Het
Nudt1	A	G	5: 140,320,378 (GRCm39)		probably null	Het
Nxph4	T	G	10: 127,362,077 (GRCm39)	K271N	probably damaging	Het
Or1af1	A	T	2: 37,109,653 (GRCm39)	R51*	probably null	Het
Or4a66	T	G	2: 88,531,661 (GRCm39)	H4P	probably benign	Het
Or51e2	T	A	7: 102,391,605 (GRCm39)	I202F	probably damaging	Het
Or52a20	T	C	7: 103,366,319 (GRCm39)	W173R	probably benign	Het
Otud6b	T	A	4: 14,825,617 (GRCm39)	N71I	probably damaging	Het
Parp8	T	A	13: 117,014,064 (GRCm39)	D623V	probably damaging	Het
Pcdhb5	T	C	18: 37,453,805 (GRCm39)	S62P	probably benign	Het
Ppp1r12b	A	G	1: 134,705,190 (GRCm39)	S833P	probably damaging	Het
Ppp1r1a	T	G	15: 103,441,915 (GRCm39)	D51A	probably damaging	Het
Prag1	C	A	8: 36,570,052 (GRCm39)	P212T	probably damaging	Het
Prxl2b	C	T	4: 154,981,520 (GRCm39)	V186I	probably benign	Het
Ptdss1	A	G	13: 67,081,701 (GRCm39)	T44A	probably damaging	Het
Rab14	T	C	2: 35,076,735 (GRCm39)	H83R	possibly damaging	Het
Rapgef3	C	T	15: 97,659,063 (GRCm39)	G101E	probably benign	Het
Rimbp3	T	A	16: 17,028,977 (GRCm39)	D800E	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Selenbp1	A	G	3: 94,851,854 (GRCm39)	D465G	probably damaging	Het
Slc28a2b	T	C	2: 122,352,340 (GRCm39)	S366P	probably damaging	Het
Slc29a1	T	C	17: 45,899,936 (GRCm39)	D251G	probably damaging	Het
Slc6a11	G	T	6: 114,224,627 (GRCm39)	V604F	probably benign	Het
Sltm	T	A	9: 70,480,929 (GRCm39)	D260E	probably damaging	Het
Spta1	G	A	1: 174,007,405 (GRCm39)	V212M	probably damaging	Het
St6gal2	T	C	17: 55,803,396 (GRCm39)		probably null	Het
Tc2n	A	G	12: 101,655,251 (GRCm39)	S235P	probably damaging	Het
Tenm3	T	A	8: 48,870,154 (GRCm39)	N213I	possibly damaging	Het
Ticam2	T	C	18: 46,693,677 (GRCm39)	T137A	probably damaging	Het
Ttn	TCCC	TCCCC	2: 76,573,251 (GRCm39)		probably null	Het
Tyk2	G	A	9: 21,026,545 (GRCm39)	Q684*	probably null	Het
Ubqln1	A	G	13: 58,327,205 (GRCm39)	F478S	possibly damaging	Het
Uckl1	G	A	2: 181,216,711 (GRCm39)	T78I	probably damaging	Het
Uhmk1	A	G	1: 170,027,581 (GRCm39)	V372A	probably damaging	Het
Unc5c	G	A	3: 141,463,598 (GRCm39)	V240I	possibly damaging	Het
Ush2a	T	C	1: 188,460,782 (GRCm39)	L2681P	probably damaging	Het
Vmn2r1	C	T	3: 63,997,603 (GRCm39)	Q420*	probably null	Het
Vmn2r101	A	T	17: 19,832,184 (GRCm39)	T727S	probably benign	Het
Vmn2r79	A	G	7: 86,651,839 (GRCm39)	T413A	probably benign	Het
Vps13c	T	C	9: 67,834,244 (GRCm39)	V1637A	probably benign	Het
Xpc	A	G	6: 91,469,929 (GRCm39)	V765A	possibly damaging	Het
Zbtb18	T	G	1: 177,274,913 (GRCm39)		probably null	Het
Zfp712	A	T	13: 67,200,400 (GRCm39)	D28E	probably benign	Het
Zfp735	A	G	11: 73,602,301 (GRCm39)	N415S	possibly damaging	Het

Other mutations in Abhd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Abhd8	APN	8	71,909,963 (GRCm39)	missense	probably damaging	1.00
IGL01780:Abhd8	APN	8	71,914,121 (GRCm39)	missense	probably benign	0.00
IGL02350:Abhd8	APN	8	71,914,121 (GRCm39)	missense	probably benign	0.00
IGL02357:Abhd8	APN	8	71,914,121 (GRCm39)	missense	probably benign	0.00
PIT4142001:Abhd8	UTSW	8	71,914,499 (GRCm39)	missense	probably damaging	1.00
R0135:Abhd8	UTSW	8	71,910,718 (GRCm39)	missense	probably benign	0.20
R0142:Abhd8	UTSW	8	71,914,506 (GRCm39)	missense	probably damaging	0.96
R1006:Abhd8	UTSW	8	71,911,085 (GRCm39)	missense	probably benign	0.19
R1411:Abhd8	UTSW	8	71,914,374 (GRCm39)	missense	probably damaging	1.00
R1937:Abhd8	UTSW	8	71,914,506 (GRCm39)	missense	possibly damaging	0.93
R1985:Abhd8	UTSW	8	71,916,157 (GRCm39)	unclassified	probably benign
R3724:Abhd8	UTSW	8	71,914,136 (GRCm39)	missense	probably benign	0.14
R5254:Abhd8	UTSW	8	71,911,042 (GRCm39)	nonsense	probably null
R5770:Abhd8	UTSW	8	71,909,972 (GRCm39)	missense	probably benign	0.07
R6030:Abhd8	UTSW	8	71,910,794 (GRCm39)	missense	possibly damaging	0.94
R6030:Abhd8	UTSW	8	71,910,794 (GRCm39)	missense	possibly damaging	0.94
R6474:Abhd8	UTSW	8	71,914,359 (GRCm39)	missense	probably damaging	1.00
R6501:Abhd8	UTSW	8	71,914,165 (GRCm39)	nonsense	probably null
R6769:Abhd8	UTSW	8	71,914,105 (GRCm39)	missense	probably damaging	1.00
R6771:Abhd8	UTSW	8	71,914,105 (GRCm39)	missense	probably damaging	1.00
R7406:Abhd8	UTSW	8	71,914,406 (GRCm39)	missense	probably benign
R7770:Abhd8	UTSW	8	71,910,894 (GRCm39)	missense	probably benign	0.09
R8268:Abhd8	UTSW	8	71,909,961 (GRCm39)	missense	probably benign	0.02
R9128:Abhd8	UTSW	8	71,914,389 (GRCm39)	missense	probably benign	0.00
R9305:Abhd8	UTSW	8	71,911,148 (GRCm39)	missense	possibly damaging	0.82
R9366:Abhd8	UTSW	8	71,914,328 (GRCm39)	missense	probably benign	0.18
Z1088:Abhd8	UTSW	8	71,914,445 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATAGCCGAGTCGCACAAAGAAG -3'
(R):5'- TGCTTACCCGATGCAAGACCAGAG -3'

Sequencing Primer
(F):5'- AAAGAAGTCTAGCTGCTCCTTCC -3'
(R):5'- TGCAAGACCAGAGCCACC -3'

Posted On

2014-05-09