Mutagenetix > Incidental Mutations

Incidental Mutation 'R0350:Abhd13'

29654

Institutional Source

Beutler Lab

Gene Symbol

Abhd13

Ensembl Gene

ENSMUSG00000040396

Gene Name

abhydrolase domain containing 13

Synonyms

MMRRC Submission

038557-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0350 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9977707-9992155 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9987600 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 66 (Y66N)

Ref Sequence

ENSEMBL: ENSMUSP00000116130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048216] [ENSMUST00000139793]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048216
AA Change: Y66N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036730
Gene: ENSMUSG00000040396
AA Change: Y66N

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	39	58	N/A	INTRINSIC
Pfam:Abhydrolase_5	116	299	5.6e-24	PFAM
Pfam:Abhydrolase_3	117	279	1.7e-6	PFAM
Pfam:Abhydrolase_6	117	310	4.9e-15	PFAM
Pfam:Abhydrolase_1	143	245	1.8e-8	PFAM
Pfam:AXE1	163	229	3.7e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139793
AA Change: Y66N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116130
Gene: ENSMUSG00000040396
AA Change: Y66N

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	39	58	N/A	INTRINSIC
Pfam:Hydrolase_4	111	250	2.5e-11	PFAM
Pfam:Abhydrolase_1	115	237	3.2e-11	PFAM
Pfam:Abhydrolase_5	116	299	6.3e-24	PFAM
Pfam:Abhydrolase_6	117	241	2.9e-8	PFAM
Pfam:AXE1	162	229	9.1e-8	PFAM

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol6	C	T	15: 77,050,947	Q139*	probably null	Het
Armh1	C	A	4: 117,215,556	E244*	probably null	Het
BC052040	T	C	2: 115,776,930	Y255H	possibly damaging	Het
Ccdc130	C	T	8: 84,260,648	E99K	probably damaging	Het
Cd1d1	A	T	3: 86,997,573	H219Q	probably benign	Het
Cdca2	A	G	14: 67,713,119	L121P	probably benign	Het
Cog4	T	A	8: 110,853,696	L133I	possibly damaging	Het
Csf1	T	C	3: 107,748,606	M370V	probably benign	Het
Ddi2	G	A	4: 141,685,523	T26M	probably benign	Het
Dhcr7	A	G	7: 143,837,770	D32G	probably damaging	Het
Exd1	T	C	2: 119,523,566	N337S	possibly damaging	Het
Flii	T	C	11: 60,721,857	D227G	probably damaging	Het
Gm11639	T	C	11: 104,690,880	V16A	probably benign	Het
Hsf1	A	G	15: 76,500,479	T485A	probably benign	Het
Igfn1	G	A	1: 135,956,767	R2614*	probably null	Het
Iqch	T	C	9: 63,500,876	T630A	probably benign	Het
Itgal	T	A	7: 127,322,081	D770E	probably damaging	Het
Mroh1	T	A	15: 76,432,249	V759E	probably damaging	Het
Mrps17	A	G	5: 129,718,145		probably benign	Het
Mtpap	A	G	18: 4,396,195	S496G	possibly damaging	Het
Nkd1	T	A	8: 88,585,216	Y39*	probably null	Het
Nmd3	A	G	3: 69,743,574	Y359C	probably damaging	Het
Nr1h3	G	A	2: 91,191,825	L153F	possibly damaging	Het
Nuf2	T	A	1: 169,513,543		probably null	Het
Olfr1218	T	A	2: 89,055,356	K23N	probably benign	Het
Olfr1272	T	C	2: 90,282,582		probably null	Het
Olfr870	A	T	9: 20,170,736	Y278*	probably null	Het
Pnn	T	C	12: 59,067,117		probably null	Het
Ppm1j	A	G	3: 104,783,371	D230G	probably benign	Het
Ppp1r15a	A	T	7: 45,523,018	L650Q	probably damaging	Het
Prss37	T	C	6: 40,514,959	E229G	probably damaging	Het
Rbm19	T	C	5: 120,128,307	V465A	possibly damaging	Het
Rubcnl	G	T	14: 75,040,891	V372F	probably damaging	Het
Sema6a	G	T	18: 47,270,718	D595E	probably benign	Het
Slc35c1	A	G	2: 92,459,032	F43S	probably damaging	Het
Slc39a5	C	T	10: 128,396,750		probably null	Het
Slco4c1	A	G	1: 96,828,849	F583L	probably benign	Het
Sox9	A	G	11: 112,784,876	Y297C	probably damaging	Het
Taf1b	A	G	12: 24,514,885	D167G	possibly damaging	Het
Trpm6	T	C	19: 18,883,957		probably null	Het
Uba6	A	C	5: 86,144,378	V402G	possibly damaging	Het
Usp43	T	C	11: 67,876,498	Y682C	probably damaging	Het
Vmn1r195	A	G	13: 22,279,233	D291G	probably damaging	Het
Xpr1	A	T	1: 155,330,468	F156Y	probably damaging	Het
Zfp318	T	A	17: 46,413,198	H2042Q	probably benign	Het
Zfp937	T	A	2: 150,239,302	D417E	possibly damaging	Het

Other mutations in Abhd13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Abhd13	APN	8	9987900	missense	possibly damaging	0.86
PIT4243001:Abhd13	UTSW	8	9987967	missense	possibly damaging	0.89
R0242:Abhd13	UTSW	8	9987561	missense	probably benign	0.00
R0242:Abhd13	UTSW	8	9987561	missense	probably benign	0.00
R1487:Abhd13	UTSW	8	9987402	start gained	probably benign
R1906:Abhd13	UTSW	8	9988170	missense	probably benign	0.11
R1907:Abhd13	UTSW	8	9988170	missense	probably benign	0.11
R2901:Abhd13	UTSW	8	9988231	missense	probably damaging	1.00
R3105:Abhd13	UTSW	8	9987931	missense	probably benign	0.05
R3413:Abhd13	UTSW	8	9987387	splice site	probably benign
R4569:Abhd13	UTSW	8	9988071	missense	possibly damaging	0.94
R5586:Abhd13	UTSW	8	9988318	missense	probably benign	0.23
R6373:Abhd13	UTSW	8	9988240	missense	probably damaging	1.00
R6526:Abhd13	UTSW	8	9987777	missense	probably damaging	1.00
R6776:Abhd13	UTSW	8	9988075	missense	probably benign	0.03
R7315:Abhd13	UTSW	8	9987970	missense	probably damaging	1.00
R8235:Abhd13	UTSW	8	9987394	start gained	probably benign
Z1176:Abhd13	UTSW	8	9987413	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGACCTGACCTTGAAGTAGAGGTG -3'
(R):5'- CAGCATTAGCAGTGCGTTTGGTAAC -3'

Sequencing Primer
(F):5'- AAATCCTGGATGCTGTGGAGC -3'
(R):5'- TTGGTAACCTGTGGCCTATG -3'

Posted On

2013-04-24