Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01306:Abhd12b'

73438

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd12b

Ensembl Gene

ENSMUSG00000090121

Gene Name

abhydrolase domain containing 12B

Synonyms

LOC328121

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL01306

Quality Score

Status

Chromosome

Chromosomal Location

70154142-70183887 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70169048 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 88 (G88S)

Ref Sequence

ENSEMBL: ENSMUSP00000138681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169156] [ENSMUST00000182512] [ENSMUST00000182782] [ENSMUST00000182927]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162570

Predicted Effect

probably damaging
Transcript: ENSMUST00000169156
AA Change: G165S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134568
Gene: ENSMUSG00000090121
AA Change: G165S

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_4	136	289	1e-16	PFAM
Pfam:Abhydrolase_1	137	278	2.6e-10	PFAM
Pfam:Abhydrolase_5	138	337	3.5e-22	PFAM
Pfam:Abhydrolase_6	139	347	2.1e-12	PFAM
Pfam:Peptidase_S9	154	357	2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182512

Predicted Effect

probably benign
Transcript: ENSMUST00000182782

Predicted Effect

probably damaging
Transcript: ENSMUST00000182927
AA Change: G88S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138681
Gene: ENSMUSG00000090121
AA Change: G88S

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	61	260	1.5e-22	PFAM
Pfam:Abhydrolase_6	62	266	1.8e-19	PFAM
Pfam:Peptidase_S9	77	280	5.1e-8	PFAM
Pfam:Abhydrolase_1	89	279	1.8e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,005,013		probably benign	Het
Acot10	A	G	15: 20,665,965	F230S	probably benign	Het
Ago4	T	C	4: 126,515,884		probably null	Het
Akap12	G	T	10: 4,353,273	A28S	probably benign	Het
Anks1	C	A	17: 27,986,253	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,313,509	Y349H	possibly damaging	Het
Camsap2	T	A	1: 136,297,790	E199D	probably benign	Het
Ccdc13	A	T	9: 121,827,363	M128K	probably benign	Het
Ccdc38	T	C	10: 93,569,935		probably null	Het
Cep95	G	A	11: 106,813,815	V499I	probably benign	Het
Cpne6	A	T	14: 55,515,249	I299F	probably damaging	Het
Cse1l	T	A	2: 166,927,508	Y278*	probably null	Het
Dip2c	A	G	13: 9,575,143	N558D	possibly damaging	Het
Edar	A	T	10: 58,628,638	C60S	probably damaging	Het
Fat2	T	C	11: 55,310,872	N459D	probably benign	Het
Fbxw8	C	T	5: 118,113,720	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,797,528	A150V	possibly damaging	Het
Gal3st1	A	G	11: 3,998,405	Y204C	probably damaging	Het
Gm5422	A	T	10: 31,249,436		noncoding transcript	Het
Grin2c	T	C	11: 115,256,194	T392A	probably benign	Het
Itpk1	T	C	12: 102,606,103	E117G	probably damaging	Het
Kif12	G	T	4: 63,165,884	P627Q	probably damaging	Het
Krtap15	T	A	16: 88,829,367	F88L	probably benign	Het
Mlh1	T	C	9: 111,252,912	N248D	possibly damaging	Het
Olfr617	T	C	7: 103,584,693	Y224H	probably damaging	Het
Olfr727	A	G	14: 50,126,582	N2D	probably benign	Het
Olfr94	T	C	17: 37,196,942	N342S	probably benign	Het
Per2	T	C	1: 91,448,833	H106R	probably damaging	Het
Pfkl	T	A	10: 77,991,395	T486S	probably benign	Het
Prkdc	T	C	16: 15,667,731	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,609,422	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,154,665	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,183,995	A110E	probably benign	Het
Siglecf	T	A	7: 43,351,953	L115*	probably null	Het
Slc6a11	C	T	6: 114,134,665	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,946,587	K18*	probably null	Het
Spata1	A	T	3: 146,487,399	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,180,524	T440I	probably benign	Het
Vmn2r111	T	A	17: 22,568,984	E462V	probably damaging	Het
Wnt16	C	T	6: 22,297,935	R267C	probably damaging	Het
Xylt1	A	C	7: 117,548,890	S230R	probably benign	Het

Other mutations in Abhd12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02886:Abhd12b	APN	12	70182966	missense	possibly damaging	0.70
ANU23:Abhd12b	UTSW	12	70169048	missense	probably damaging	0.99
R0112:Abhd12b	UTSW	12	70181017	missense	probably benign	0.16
R0542:Abhd12b	UTSW	12	70163495	missense	possibly damaging	0.82
R1427:Abhd12b	UTSW	12	70182419	missense	probably damaging	1.00
R4782:Abhd12b	UTSW	12	70169064	missense	probably damaging	1.00
R4799:Abhd12b	UTSW	12	70169064	missense	probably damaging	1.00
R5238:Abhd12b	UTSW	12	70163368	splice site	probably null
R5372:Abhd12b	UTSW	12	70181026	missense	probably damaging	0.98
R6974:Abhd12b	UTSW	12	70159447	missense	probably benign	0.03

Posted On

2013-10-07