Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Abhd12b'

717386

Institutional Source

Beutler Lab

Gene Symbol

Abhd12b

Ensembl Gene

ENSMUSG00000090121

Gene Name

abhydrolase domain containing 12B

Synonyms

LOC328121

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70200916-70230661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70210237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 138 (I138V)

Ref Sequence

ENSEMBL: ENSMUSP00000134568 (fasta)

Gene Model

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

AlphaFold

G3UZN6

Predicted Effect

probably benign
Transcript: ENSMUST00000169156
AA Change: I138V

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134568
Gene: ENSMUSG00000090121
AA Change: I138V

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 benign
Transcript: ENSMUST00000182927
AA Change: I61V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000138681
Gene: ENSMUSG00000090121
AA Change: I61V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,182,989 (GRCm39)	Y160H	probably damaging	Het
Abca17	T	C	17: 24,484,480 (GRCm39)	Y1594C	probably damaging	Het
Abca8a	T	C	11: 109,977,374 (GRCm39)	I128M	probably damaging	Het
Adcy8	G	A	15: 64,792,045 (GRCm39)	L304F	possibly damaging	Het
Alb	T	C	5: 90,617,362 (GRCm39)	F354L	probably damaging	Het
Ampd3	T	A	7: 110,409,053 (GRCm39)	S688R	probably damaging	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Areg	T	G	5: 91,294,553 (GRCm39)	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,640,484 (GRCm39)	S1243G	probably benign	Het
B3glct	A	G	5: 149,673,894 (GRCm39)		probably null	Het
Casp7	T	A	19: 56,424,767 (GRCm39)	L162Q	probably damaging	Het
Cdh20	A	G	1: 109,976,635 (GRCm39)	N100S	probably benign	Het
Cdh22	G	T	2: 164,954,490 (GRCm39)	T677N	probably damaging	Het
Cmtm5	T	A	14: 55,174,205 (GRCm39)	S31T	probably benign	Het
Col6a3	T	A	1: 90,713,650 (GRCm39)	R2295*	probably null	Het
Cpa6	T	C	1: 10,479,546 (GRCm39)	N229S	possibly damaging	Het
Dagla	G	T	19: 10,232,218 (GRCm39)	Y489*	probably null	Het
Dnah7b	A	G	1: 46,253,564 (GRCm39)	K1823R	probably benign	Het
Dnah9	T	C	11: 65,739,199 (GRCm39)	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,658,278 (GRCm39)	E296D	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Esco2	T	C	14: 66,068,752 (GRCm39)	D186G	probably benign	Het
Foxj2	A	G	6: 122,819,792 (GRCm39)	D560G	probably damaging	Het
Frmd3	G	A	4: 74,038,055 (GRCm39)	M105I	probably benign	Het
Gria4	A	T	9: 4,503,560 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,150,167 (GRCm39)	S410P	probably benign	Het
Ifi204	T	C	1: 173,583,537 (GRCm39)	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,779,439 (GRCm39)	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,770,784 (GRCm39)	T1588A		Het
Myo9a	A	G	9: 59,734,466 (GRCm39)	S683G	probably damaging	Het
Ncam2	T	C	16: 81,309,887 (GRCm39)	I459T	probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,256,502 (GRCm39)	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,897,397 (GRCm39)	T920A	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or8k17	A	G	2: 86,066,838 (GRCm39)	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,406,941 (GRCm39)	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,398,516 (GRCm39)	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,606,890 (GRCm39)	R41*	probably null	Het
Pde1b	A	T	15: 103,435,489 (GRCm39)	D448V	probably benign	Het
Pex7	G	A	10: 19,762,859 (GRCm39)	R227*	probably null	Het
Pkp1	T	A	1: 135,817,820 (GRCm39)	Y105F	probably benign	Het
Plbd1	T	C	6: 136,589,244 (GRCm39)	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,649,004 (GRCm39)	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,263,291 (GRCm39)	T792S	unknown	Het
Rasgrf1	A	T	9: 89,826,921 (GRCm39)	T177S	probably benign	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rfx8	T	C	1: 39,724,674 (GRCm39)	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,575,412 (GRCm39)	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,704,233 (GRCm39)	S296T	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Srsf6	A	G	2: 162,774,009 (GRCm39)	E68G	probably benign	Het
Syt13	A	T	2: 92,781,749 (GRCm39)	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,647,553 (GRCm39)	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,048,681 (GRCm39)	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,273,924 (GRCm39)	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,097,127 (GRCm39)	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,299,403 (GRCm39)	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,463,233 (GRCm39)	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,402,244 (GRCm39)	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,404,812 (GRCm39)	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,584,997 (GRCm39)	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,125,770 (GRCm39)	Q234L	probably benign	Het
Zfp850	T	C	7: 27,689,275 (GRCm39)	K311R	possibly 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
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
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'- AAAGTATGTGTATATGCAGCTGTCG -3'
(R):5'- TTCCCTCCCGTTCAGAAACAG -3'

Sequencing Primer
(F):5'- ATGCAGCTGTCGTTTTTGATACATC -3'
(R):5'- CCCAAGTCATTCTATATGGGAACTGC -3'

Posted On

2022-07-18