Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU23:Abhd12b'

262655

Institutional Source

Beutler Lab

Gene Symbol

Abhd12b

Ensembl Gene

ENSMUSG00000090121

Gene Name

abhydrolase domain containing 12B

Synonyms

LOC328121

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

ANU23

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70200916-70230661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70215822 bp (GRCm39)

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]

AlphaFold

G3UZN6

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

1x: 98.7%
3x: 98.2%
10x: 96.6%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot10	A	G	15: 20,666,051 (GRCm39)	F230S	probably benign	Het
Akap12	G	T	10: 4,303,273 (GRCm39)	A28S	probably benign	Het
Anks1	C	A	17: 28,205,227 (GRCm39)	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,197,710 (GRCm39)	Y349H	possibly damaging	Het
Cacna1g	G	A	11: 94,357,054 (GRCm39)		probably benign	Het
Camsap2	T	A	1: 136,225,528 (GRCm39)	E199D	probably benign	Het
Ccdc13	A	T	9: 121,656,429 (GRCm39)	M128K	probably benign	Het
Ccdc38	T	C	10: 93,405,797 (GRCm39)		probably null	Het
Cep95	G	A	11: 106,704,641 (GRCm39)	V499I	probably benign	Het
Cpne6	G	C	14: 55,749,459 (GRCm39)	M6I	probably benign	Het
Cpne6	A	T	14: 55,752,706 (GRCm39)	I299F	probably damaging	Het
Cse1l	T	A	2: 166,769,428 (GRCm39)	Y278*	probably null	Het
Dip2c	A	G	13: 9,625,179 (GRCm39)	N558D	possibly damaging	Het
Edar	A	T	10: 58,464,460 (GRCm39)	C60S	probably damaging	Het
Fat2	T	C	11: 55,201,698 (GRCm39)	N459D	probably benign	Het
Fbxw8	C	T	5: 118,251,785 (GRCm39)	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,704,810 (GRCm39)	A150V	possibly damaging	Het
Gm5422	A	T	10: 31,125,432 (GRCm39)		noncoding transcript	Het
Gpatch3	CAGGAGGAGGAGGAGGAG	CAGGAGGAGGAGGAG	4: 133,305,613 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,147,020 (GRCm39)	T392A	probably benign	Het
Idh3a	T	A	9: 54,493,829 (GRCm39)		probably null	Het
Itpk1	T	C	12: 102,572,362 (GRCm39)	E117G	probably damaging	Het
Kif12	G	T	4: 63,084,121 (GRCm39)	P627Q	probably damaging	Het
Krtap15-1	T	A	16: 88,626,255 (GRCm39)	F88L	probably benign	Het
Mcm7	C	T	5: 138,168,653 (GRCm39)	V13I	probably benign	Het
Mlh1	T	C	9: 111,081,980 (GRCm39)	N248D	possibly damaging	Het
Or2i1	T	C	17: 37,507,833 (GRCm39)	N342S	probably benign	Het
Or4k15	A	G	14: 50,364,039 (GRCm39)	N2D	probably benign	Het
Or52z12	T	C	7: 103,233,900 (GRCm39)	Y224H	probably damaging	Het
Per2	T	C	1: 91,376,555 (GRCm39)	H106R	probably damaging	Het
Pfkl	T	A	10: 77,827,229 (GRCm39)	T486S	probably benign	Het
Prkdc	T	C	16: 15,485,595 (GRCm39)	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,445,256 (GRCm39)	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,082,395 (GRCm39)	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,011,564 (GRCm39)	A110E	probably benign	Het
Siglecf	T	A	7: 43,001,377 (GRCm39)	L115*	probably null	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,892,313 (GRCm39)	K18*	probably null	Het
Spata1	A	T	3: 146,193,154 (GRCm39)	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,056,620 (GRCm39)	T440I	probably benign	Het
Vmn1r159	A	G	7: 22,542,588 (GRCm39)	V148A	probably damaging	Het
Wnt16	C	T	6: 22,297,934 (GRCm39)	R267C	probably damaging	Het
Xylt1	A	C	7: 117,148,125 (GRCm39)	S230R	probably benign	Het
Zfp334	T	C	2: 165,223,017 (GRCm39)	H342R	probably damaging	Het

Other mutations in Abhd12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Abhd12b	APN	12	70,215,822 (GRCm39)	missense	probably damaging	0.99
IGL02886:Abhd12b	APN	12	70,229,740 (GRCm39)	missense	possibly damaging	0.70
R0112:Abhd12b	UTSW	12	70,227,791 (GRCm39)	missense	probably benign	0.16
R0542:Abhd12b	UTSW	12	70,210,269 (GRCm39)	missense	possibly damaging	0.82
R1427:Abhd12b	UTSW	12	70,229,193 (GRCm39)	missense	probably damaging	1.00
R4782:Abhd12b	UTSW	12	70,215,838 (GRCm39)	missense	probably damaging	1.00
R4799:Abhd12b	UTSW	12	70,215,838 (GRCm39)	missense	probably damaging	1.00
R5238:Abhd12b	UTSW	12	70,210,142 (GRCm39)	splice site	probably null
R5372:Abhd12b	UTSW	12	70,227,800 (GRCm39)	missense	probably damaging	0.98
R6974:Abhd12b	UTSW	12	70,206,221 (GRCm39)	missense	probably benign	0.03
R8773:Abhd12b	UTSW	12	70,213,708 (GRCm39)	critical splice acceptor site	probably null
R9096:Abhd12b	UTSW	12	70,210,207 (GRCm39)	missense	probably damaging	1.00
R9498:Abhd12b	UTSW	12	70,210,237 (GRCm39)	missense	probably benign	0.09
R9554:Abhd12b	UTSW	12	70,215,988 (GRCm39)	missense	probably benign	0.04
R9738:Abhd12b	UTSW	12	70,216,039 (GRCm39)	missense	probably benign	0.00
Z1176:Abhd12b	UTSW	12	70,210,225 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCCTTACCAGGGAGCTGTATC -3'
(R):5'- GGACACGTCTTCAGCTTGCACTTAC -3'

Sequencing Primer
(F):5'- agctgtatcccagctcTTTAG -3'
(R):5'- CAAATAATGTCTGTGGTTAGTCCCTC -3'

Posted On

2015-02-04