Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02886:Abhd12b'

363012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd12b

Ensembl Gene

ENSMUSG00000090121

Gene Name

abhydrolase domain containing 12B

Synonyms

LOC328121

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02886

Quality Score

Status

Chromosome

Chromosomal Location

70200916-70230661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70229740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 238 (I238T)

Ref Sequence

ENSEMBL: ENSMUSP00000138681 (fasta)

Gene Model

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

AlphaFold

G3UZN6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162570

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169156
AA Change: I315T

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134568
Gene: ENSMUSG00000090121
AA Change: I315T

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

possibly damaging
Transcript: ENSMUST00000182927
AA Change: I238T

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138681
Gene: ENSMUSG00000090121
AA Change: I238T

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
Abca4	T	A	3: 121,921,863 (GRCm39)	C1140S	probably damaging	Het
Adgrb3	T	C	1: 25,543,991 (GRCm39)		probably null	Het
Baz2b	A	T	2: 59,788,087 (GRCm39)		probably null	Het
Brwd3	T	C	X: 107,794,454 (GRCm39)	Y1410C	probably damaging	Het
Casp7	T	A	19: 56,421,775 (GRCm39)	I71N	probably damaging	Het
Cspg4	A	T	9: 56,804,672 (GRCm39)	I1828F	probably damaging	Het
Cul2	T	C	18: 3,426,920 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,986,700 (GRCm39)	D5409G	possibly damaging	Het
Fam187a	A	T	11: 102,777,380 (GRCm39)	T395S	probably benign	Het
Fcgr2b	A	G	1: 170,793,297 (GRCm39)	V244A	possibly damaging	Het
Fubp1	A	G	3: 151,926,392 (GRCm39)	E333G	possibly damaging	Het
Ganab	G	T	19: 8,888,391 (GRCm39)		probably benign	Het
Hpdl	A	G	4: 116,677,952 (GRCm39)	S170P	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Klhl11	T	C	11: 100,363,047 (GRCm39)	S170G	possibly damaging	Het
Lrrc56	A	G	7: 140,777,090 (GRCm39)		probably benign	Het
Lrrd1	T	C	5: 3,901,534 (GRCm39)	V613A	probably benign	Het
Myo1e	T	C	9: 70,276,055 (GRCm39)	F757L	probably benign	Het
Myo5a	T	A	9: 75,059,169 (GRCm39)		probably benign	Het
Myocd	T	A	11: 65,069,569 (GRCm39)	D837V	probably damaging	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nol4l	A	G	2: 153,371,457 (GRCm39)	F76L	probably benign	Het
Or10ak7	T	C	4: 118,792,027 (GRCm39)	E6G	probably benign	Het
Or2b2b	T	A	13: 21,859,122 (GRCm39)		probably benign	Het
Or5b98	T	A	19: 12,931,882 (GRCm39)	S310T	probably benign	Het
Pck1	G	A	2: 172,996,649 (GRCm39)	E188K	probably benign	Het
Pdcd11	T	C	19: 47,102,064 (GRCm39)	V1083A	possibly damaging	Het
Primpol	G	A	8: 47,046,619 (GRCm39)	Q226*	probably null	Het
Rbm15	A	C	3: 107,233,611 (GRCm39)	V959G	probably benign	Het
Rorb	A	G	19: 18,954,943 (GRCm39)		probably null	Het
Spata9	T	C	13: 76,125,853 (GRCm39)	L112P	probably damaging	Het
Stk24	A	T	14: 121,529,527 (GRCm39)	L375Q	probably null	Het
Svip	A	G	7: 51,655,509 (GRCm39)	S11P	possibly damaging	Het
Taf13	T	C	3: 108,488,500 (GRCm39)		probably benign	Het
Tex30	T	C	1: 44,127,683 (GRCm39)	Y7C	probably damaging	Het
Tmem68	T	C	4: 3,569,361 (GRCm39)		probably benign	Het
Tnc	T	C	4: 63,918,344 (GRCm39)	E1189G	probably damaging	Het
Top2b	T	C	14: 16,365,688 (GRCm38)	S4P	possibly damaging	Het
Trav3-3	C	A	14: 53,903,822 (GRCm39)	L47I	probably benign	Het
Ttn	G	A	2: 76,733,557 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,323,811 (GRCm39)		probably benign	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
ANU23:Abhd12b	UTSW	12	70,215,822 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-12-18