Mutagenetix > Incidental Mutation

Incidental Mutation 'R0542:Abhd12b'

49999

Institutional Source

Beutler Lab

Gene Symbol

Abhd12b

Ensembl Gene

ENSMUSG00000090121

Gene Name

abhydrolase domain containing 12B

Synonyms

LOC328121

MMRRC Submission

038734-MU

Accession Numbers

Essential gene?

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

Stock #

R0542 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70200916-70230661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70210269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 71 (N71K)

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

possibly damaging
Transcript: ENSMUST00000169156
AA Change: N148K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134568
Gene: ENSMUSG00000090121
AA Change: N148K

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: N71K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138681
Gene: ENSMUSG00000090121
AA Change: N71K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	G	3: 148,564,854 (GRCm39)	I242T	probably damaging	Het
Adgrv1	A	G	13: 81,721,437 (GRCm39)	S714P	probably damaging	Het
Agap3	G	A	5: 24,705,184 (GRCm39)	R704Q	possibly damaging	Het
Ankrd11	T	C	8: 123,622,509 (GRCm39)	R448G	probably damaging	Het
Anks1b	T	C	10: 89,909,829 (GRCm39)		probably benign	Het
Caml	A	T	13: 55,770,974 (GRCm39)	Q24L	possibly damaging	Het
Cdc14b	G	A	13: 64,391,497 (GRCm39)	T124I	probably benign	Het
Clca3a2	A	G	3: 144,781,571 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,512,610 (GRCm39)		probably null	Het
Crispld1	T	C	1: 17,816,992 (GRCm39)	V183A	possibly damaging	Het
Cstdc1	A	G	2: 148,624,092 (GRCm39)	N22S	probably benign	Het
Dhx40	C	T	11: 86,695,082 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,026,761 (GRCm39)	D1956E	probably benign	Het
Dsc2	A	G	18: 20,184,283 (GRCm39)	V35A	probably damaging	Het
Dync2i2	A	G	2: 29,921,837 (GRCm39)	V508A	probably damaging	Het
Elovl2	A	G	13: 41,345,452 (GRCm39)		probably benign	Het
Gapvd1	T	C	2: 34,615,048 (GRCm39)		probably benign	Het
Gnaq	T	A	19: 16,196,982 (GRCm39)	I56N	probably damaging	Het
Gpr139	T	C	7: 118,744,306 (GRCm39)	D93G	probably benign	Het
Hars1	C	T	18: 36,904,234 (GRCm39)	R215H	probably benign	Het
Helz2	C	A	2: 180,873,882 (GRCm39)	W2204L	probably damaging	Het
Ift70b	A	G	2: 75,767,055 (GRCm39)	V566A	probably damaging	Het
Itgb6	A	T	2: 60,435,480 (GRCm39)	C757S	possibly damaging	Het
Kpnb1	G	A	11: 97,078,398 (GRCm39)	T5I	probably benign	Het
Krt82	T	C	15: 101,454,035 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,860,546 (GRCm39)	K175N	possibly damaging	Het
Lrp2	A	G	2: 69,258,998 (GRCm39)	I4564T	probably benign	Het
Mblac1	A	G	5: 138,192,798 (GRCm39)	T47A	possibly damaging	Het
Med12l	G	A	3: 58,949,822 (GRCm39)	D182N	probably damaging	Het
Megf9	A	G	4: 70,353,585 (GRCm39)	I407T	probably benign	Het
Mtmr6	A	T	14: 60,529,578 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,624,907 (GRCm39)	T2173A	probably benign	Het
Mzt1	A	T	14: 99,277,938 (GRCm39)		probably benign	Het
Narf	T	C	11: 121,143,690 (GRCm39)	L444P	probably damaging	Het
Nsd1	A	T	13: 55,408,271 (GRCm39)	Q1305L	possibly damaging	Het
Ntsr1	A	G	2: 180,184,374 (GRCm39)	Y359C	probably damaging	Het
Olfm1	A	G	2: 28,104,640 (GRCm39)	D159G	possibly damaging	Het
Or2l13b	A	T	16: 19,348,732 (GRCm39)	*313R	probably null	Het
Pcdh1	C	T	18: 38,322,975 (GRCm39)	V953I	probably damaging	Het
Pcdhb11	A	T	18: 37,556,887 (GRCm39)	D739V	probably damaging	Het
Pdgfd	A	G	9: 6,359,769 (GRCm39)	N280S	probably damaging	Het
Per2	A	T	1: 91,366,054 (GRCm39)		probably null	Het
Pfkp	G	T	13: 6,672,028 (GRCm39)	C122*	probably null	Het
Plxna4	G	A	6: 32,169,232 (GRCm39)	R1322W	probably damaging	Het
Ppox	A	G	1: 171,106,818 (GRCm39)	L202P	probably damaging	Het
Ppp1r3e	G	A	14: 55,114,588 (GRCm39)	P58L	probably benign	Het
Prr23a2	A	C	9: 98,739,086 (GRCm39)	N148T	probably benign	Het
Psd	T	C	19: 46,302,649 (GRCm39)	T842A	probably damaging	Het
Ranbp2	C	T	10: 58,314,236 (GRCm39)	A1652V	probably benign	Het
Rragd	G	A	4: 33,007,103 (GRCm39)	V144M	probably damaging	Het
Sema6a	T	G	18: 47,381,643 (GRCm39)	D968A	probably damaging	Het
Slc30a5	A	T	13: 100,945,793 (GRCm39)		probably null	Het
Snx17	G	T	5: 31,353,895 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,928,853 (GRCm39)	M253K	possibly damaging	Het
Syt14	G	T	1: 192,613,111 (GRCm39)	T563K	probably damaging	Het
Tada3	T	C	6: 113,352,175 (GRCm39)	K85E	probably damaging	Het
Tspear	T	C	10: 77,716,921 (GRCm39)	V532A	probably benign	Het
Ttn	A	T	2: 76,723,453 (GRCm39)	C6426S	possibly damaging	Het
Unc79	T	C	12: 103,060,437 (GRCm39)		probably benign	Het
Usp19	A	G	9: 108,371,584 (GRCm39)		probably null	Het
Vav3	G	A	3: 109,434,746 (GRCm39)	D426N	probably damaging	Het
Vezt	T	C	10: 93,842,958 (GRCm39)		probably null	Het
Vldlr	G	T	19: 27,213,655 (GRCm39)	R114L	probably benign	Het
Wwc2	C	T	8: 48,321,414 (GRCm39)	V567I	unknown	Het
Zfp423	T	C	8: 88,507,237 (GRCm39)	T911A	probably damaging	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zkscan16	A	T	4: 58,956,597 (GRCm39)	H293L	possibly damaging	Het
Zkscan6	A	C	11: 65,719,525 (GRCm39)	N515T	possibly damaging	Het
Znfx1	A	G	2: 166,897,575 (GRCm39)	S450P	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
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
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'- GGCTTGTGTCTAGGAACTGCCATC -3'
(R):5'- CGAGAATGTGTTTGCCAGAACACC -3'

Sequencing Primer
(F):5'- GGAACTGCCATCTTGGAAACTTC -3'
(R):5'- GTGTTTGCCAGAACACCTTCAC -3'

Posted On

2013-06-12