Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4243001:Abhd13'

554463

Institutional Source

Beutler Lab

Gene Symbol

Abhd13

Ensembl Gene

ENSMUSG00000040396

Gene Name

abhydrolase domain containing 13

Synonyms

1110065L07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4243001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10027717-10042155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10037967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 188 (F188S)

Ref Sequence

ENSEMBL: ENSMUSP00000036730 (fasta)

Gene Model

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

AlphaFold

Q80UX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048216
AA Change: F188S

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036730
Gene: ENSMUSG00000040396
AA Change: F188S

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

possibly damaging
Transcript: ENSMUST00000139793
AA Change: F188S

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116130
Gene: ENSMUSG00000040396
AA Change: F188S

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: 92.7%
3x: 90.5%
10x: 85.2%
20x: 74.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,119,999 (GRCm39)	E252V	possibly damaging	Het
Abtb1	A	G	6: 88,815,708 (GRCm39)	V225A	probably benign	Het
Accs	A	G	2: 93,671,679 (GRCm39)	M237T	probably benign	Het
Adcy9	A	G	16: 4,236,271 (GRCm39)	I380T	probably damaging	Het
Add3	T	C	19: 53,225,121 (GRCm39)	S414P	probably benign	Het
Ak3	C	T	19: 29,015,271 (GRCm39)		probably null	Het
Atg14	T	C	14: 47,792,031 (GRCm39)	E132G	possibly damaging	Het
Bcl2l11	A	G	2: 127,989,026 (GRCm39)	E135G	probably benign	Het
Brwd1	G	A	16: 95,803,871 (GRCm39)	Q2100*	probably null	Het
Card11	A	C	5: 140,894,359 (GRCm39)	V90G	possibly damaging	Het
Celsr3	T	C	9: 108,709,507 (GRCm39)	V1451A	probably benign	Het
Clip4	T	C	17: 72,113,723 (GRCm39)	I291T	probably damaging	Het
Clk1	C	T	1: 58,458,836 (GRCm39)	D179N	probably damaging	Het
Cyp11b2	A	G	15: 74,723,302 (GRCm39)	L454P	probably damaging	Het
Cyp2a12	C	A	7: 26,734,198 (GRCm39)	S377Y	probably benign	Het
Ep400	A	G	5: 110,883,446 (GRCm39)	S663P	unknown	Het
Erich6	G	A	3: 58,537,300 (GRCm39)	T238I	possibly damaging	Het
Herc1	T	A	9: 66,279,489 (GRCm39)	H132Q	probably benign	Het
Hk2	A	G	6: 82,707,858 (GRCm39)	C704R	probably damaging	Het
Ift74	A	T	4: 94,575,141 (GRCm39)	R531W	possibly damaging	Het
Ism2	T	C	12: 87,333,832 (GRCm39)	E71G	probably benign	Het
Lipe	A	C	7: 25,094,971 (GRCm39)	S22A	probably benign	Het
Myl10	A	G	5: 136,723,147 (GRCm39)	D32G	probably benign	Het
Nomo1	A	G	7: 45,693,705 (GRCm39)	H179R	probably damaging	Het
Or1ad6	T	C	11: 50,860,379 (GRCm39)	F178S	probably damaging	Het
Or2n1b	T	C	17: 38,460,394 (GRCm39)	F305S	probably benign	Het
Pdpn	T	A	4: 142,997,108 (GRCm39)	T129S	probably damaging	Het
Pold1	C	T	7: 44,191,582 (GRCm39)	V135I	possibly damaging	Het
Rasgrp3	T	A	17: 75,807,134 (GRCm39)	N199K	probably damaging	Het
Skil	T	C	3: 31,167,714 (GRCm39)	S449P	probably damaging	Het
Spag16	T	C	1: 69,892,540 (GRCm39)	L107P	probably damaging	Het
Tbccd1	A	G	16: 22,641,087 (GRCm39)	M430T	probably damaging	Het
Tnfaip3	G	A	10: 18,887,322 (GRCm39)	L68F	probably damaging	Het
Trrap	G	A	5: 144,733,781 (GRCm39)	R878H	probably benign	Het
Vasn	T	C	16: 4,467,480 (GRCm39)	S476P	probably damaging	Het
Vmn2r110	T	A	17: 20,802,379 (GRCm39)	M499L	probably benign	Het
Wwp1	T	C	4: 19,638,631 (GRCm39)	T571A	probably damaging	Het
Zfp608	C	A	18: 55,031,096 (GRCm39)	G948V	probably damaging	Het
Zswim5	A	G	4: 116,841,975 (GRCm39)	I852V	probably benign	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
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
R8235:Abhd13	UTSW	8	10,037,394 (GRCm39)	start gained	probably benign
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'- AAACGCACTGCTAATGCTGG -3'
(R):5'- ATCAACTGGTCAGAGAGGCC -3'

Sequencing Primer
(F):5'- ACTGCTAATGCTGGTGAACC -3'
(R):5'- CATCCTGCACTGGGAGATC -3'

Posted On

2019-06-07