Mutagenetix > Incidental Mutation

Incidental Mutation 'R8235:Abhd13'

637305

Institutional Source

Beutler Lab

Gene Symbol

Abhd13

Ensembl Gene

ENSMUSG00000040396

Gene Name

abhydrolase domain containing 13

Synonyms

1110065L07Rik

MMRRC Submission

067667-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10027717-10042155 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 10037394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048216] [ENSMUST00000139793]

AlphaFold

Q80UX8

Predicted Effect

probably benign
Transcript: ENSMUST00000048216

SMART Domains

Protein: ENSMUSP00000036730
Gene: ENSMUSG00000040396

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	39	58	N/A	INTRINSIC
Pfam:Abhydrolase_5	116	299	5.6e-24	PFAM
Pfam:Abhydrolase_3	117	279	1.7e-6	PFAM
Pfam:Abhydrolase_6	117	310	4.9e-15	PFAM
Pfam:Abhydrolase_1	143	245	1.8e-8	PFAM
Pfam:AXE1	163	229	3.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139793

SMART Domains

Protein: ENSMUSP00000116130
Gene: ENSMUSG00000040396

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	39	58	N/A	INTRINSIC
Pfam:Hydrolase_4	111	250	2.5e-11	PFAM
Pfam:Abhydrolase_1	115	237	3.2e-11	PFAM
Pfam:Abhydrolase_5	116	299	6.3e-24	PFAM
Pfam:Abhydrolase_6	117	241	2.9e-8	PFAM
Pfam:AXE1	162	229	9.1e-8	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,212,077 (GRCm39)	Q279H	probably damaging	Het
Atp8b3	T	C	10: 80,365,650 (GRCm39)	N368S	probably damaging	Het
Bptf	A	G	11: 106,967,458 (GRCm39)	M1089T	probably benign	Het
Cbll1	C	T	12: 31,541,570 (GRCm39)	D103N	probably benign	Het
Ccnd2	T	C	6: 127,107,305 (GRCm39)	D288G	probably benign	Het
Chek1	T	A	9: 36,630,870 (GRCm39)	R181S	probably benign	Het
Chrna7	T	C	7: 62,861,972 (GRCm39)	R27G	probably damaging	Het
Crybb1	A	G	5: 112,405,266 (GRCm39)	K6R	probably damaging	Het
Ehbp1	G	A	11: 22,189,153 (GRCm39)	T83M	probably damaging	Het
Entpd7	G	A	19: 43,705,984 (GRCm39)	E269K	probably damaging	Het
Eps8	A	G	6: 137,460,576 (GRCm39)	V729A	possibly damaging	Het
Farsa	A	G	8: 85,595,545 (GRCm39)	H480R	probably damaging	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Hpn	T	C	7: 30,802,208 (GRCm39)	T228A	possibly damaging	Het
Lyst	T	A	13: 13,935,323 (GRCm39)	H3597Q	possibly damaging	Het
Map3k4	A	T	17: 12,458,968 (GRCm39)		probably null	Het
Msto1	A	T	3: 88,820,228 (GRCm39)	L89Q	probably damaging	Het
Mycbp2	T	C	14: 103,436,110 (GRCm39)	E2185G	probably damaging	Het
Myh2	A	G	11: 67,083,824 (GRCm39)	E1534G	probably damaging	Het
Nfkbia	T	C	12: 55,537,608 (GRCm39)	Y195C	probably damaging	Het
Npr2	T	A	4: 43,641,603 (GRCm39)	M469K	probably benign	Het
Nwd1	TCATCC	TCATCCATCC	8: 73,438,314 (GRCm39)		probably null	Het
Or8i2	T	C	2: 86,852,226 (GRCm39)	I221V	probably benign	Het
Potefam3e	C	A	8: 19,799,476 (GRCm39)	T308N	probably benign	Het
Prdm2	G	A	4: 142,859,037 (GRCm39)	Q1418*	probably null	Het
Ptk2	T	C	15: 73,215,140 (GRCm39)	T13A	probably benign	Het
Ptprk	T	A	10: 28,465,037 (GRCm39)	N1292K	possibly damaging	Het
Ptprq	A	C	10: 107,418,402 (GRCm39)	V1658G	probably damaging	Het
Ptprq	A	T	10: 107,541,351 (GRCm39)	F392I	probably benign	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rsf1	T	C	7: 97,325,461 (GRCm39)		probably benign	Het
Samd4b	C	T	7: 28,106,031 (GRCm39)	V396I	probably benign	Het
Spta1	T	A	1: 174,029,952 (GRCm39)	L906Q	probably damaging	Het
Sytl1	T	C	4: 132,988,257 (GRCm39)	D33G	probably damaging	Het
Trmt10c	T	C	16: 55,854,939 (GRCm39)	N232S	probably benign	Het
Trpc4	G	A	3: 54,209,669 (GRCm39)	C678Y	probably benign	Het
Tulp3	T	C	6: 128,304,640 (GRCm39)	N205D	probably benign	Het
Ufl1	T	C	4: 25,278,656 (GRCm39)	I100V	probably benign	Het
Unc45b	A	G	11: 82,810,681 (GRCm39)	I314V	probably benign	Het
Vegfa	A	T	17: 46,342,236 (GRCm39)	L194Q	possibly damaging	Het
Vps13c	T	C	9: 67,834,678 (GRCm39)	F1669S	probably damaging	Het
Vps13c	T	A	9: 67,863,063 (GRCm39)	H3026Q	probably benign	Het
Zfp184	T	G	13: 22,144,053 (GRCm39)	I586M	probably damaging	Het

Other mutations in Abhd13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Abhd13	APN	8	10,037,900 (GRCm39)	missense	possibly damaging	0.86
PIT4243001:Abhd13	UTSW	8	10,037,967 (GRCm39)	missense	possibly damaging	0.89
R0242:Abhd13	UTSW	8	10,037,561 (GRCm39)	missense	probably benign	0.00
R0242:Abhd13	UTSW	8	10,037,561 (GRCm39)	missense	probably benign	0.00
R0350:Abhd13	UTSW	8	10,037,600 (GRCm39)	missense	probably damaging	1.00
R1487:Abhd13	UTSW	8	10,037,402 (GRCm39)	start gained	probably benign
R1906:Abhd13	UTSW	8	10,038,170 (GRCm39)	missense	probably benign	0.11
R1907:Abhd13	UTSW	8	10,038,170 (GRCm39)	missense	probably benign	0.11
R2901:Abhd13	UTSW	8	10,038,231 (GRCm39)	missense	probably damaging	1.00
R3105:Abhd13	UTSW	8	10,037,931 (GRCm39)	missense	probably benign	0.05
R3413:Abhd13	UTSW	8	10,037,387 (GRCm39)	splice site	probably benign
R4569:Abhd13	UTSW	8	10,038,071 (GRCm39)	missense	possibly damaging	0.94
R5586:Abhd13	UTSW	8	10,038,318 (GRCm39)	missense	probably benign	0.23
R6373:Abhd13	UTSW	8	10,038,240 (GRCm39)	missense	probably damaging	1.00
R6526:Abhd13	UTSW	8	10,037,777 (GRCm39)	missense	probably damaging	1.00
R6776:Abhd13	UTSW	8	10,038,075 (GRCm39)	missense	probably benign	0.03
R7315:Abhd13	UTSW	8	10,037,970 (GRCm39)	missense	probably damaging	1.00
R9656:Abhd13	UTSW	8	10,037,991 (GRCm39)	missense	possibly damaging	0.88
Z1176:Abhd13	UTSW	8	10,037,413 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAACGTGGTTCGGACTACAG -3'
(R):5'- ATGGCTGTTCTGGAAAGTAGAGC -3'

Sequencing Primer
(F):5'- TTCGGACTACAGGTTGGGAAG -3'
(R):5'- TGTTCTGGAAAGTAGAGCAAGACATC -3'

Posted On

2020-07-13