Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Abhd18'

34391

Institutional Source

Beutler Lab

Gene Symbol

Abhd18

Ensembl Gene

ENSMUSG00000037818

Gene Name

abhydrolase domain containing 18

Synonyms

3110057O12Rik

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40846970-40938138 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40933853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 377 (I377M)

Ref Sequence

ENSEMBL: ENSMUSP00000124430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108077] [ENSMUST00000108078] [ENSMUST00000159774] [ENSMUST00000204496] [ENSMUST00000205065]

AlphaFold

Q8C1A9

Predicted Effect

probably benign
Transcript: ENSMUST00000108077
AA Change: I377M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
AA Change: I377M

Domain	Start	End	E-Value	Type
Pfam:DUF2048	16	457	7.7e-168	PFAM
Pfam:Abhydrolase_6	91	445	1.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108078
AA Change: I377M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
AA Change: I377M

Domain	Start	End	E-Value	Type
Pfam:DUF2048	16	457	7.7e-168	PFAM
Pfam:Abhydrolase_6	91	445	1.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159774
AA Change: I377M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
AA Change: I377M

Domain	Start	End	E-Value	Type
Pfam:DUF2048	16	457	1.3e-171	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204464

Predicted Effect

probably benign
Transcript: ENSMUST00000204496

SMART Domains

Protein: ENSMUSP00000145007
Gene: ENSMUSG00000037818

Domain	Start	End	E-Value	Type
Pfam:DUF2048	16	67	2.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205065

SMART Domains

Protein: ENSMUSP00000145095
Gene: ENSMUSG00000037818

Domain	Start	End	E-Value	Type
Pfam:DUF2048	16	151	7.8e-65	PFAM

Meta Mutation Damage Score

0.0681

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	probably benign	Het

Other mutations in Abhd18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Abhd18	APN	3	40933642	missense	probably benign	0.00
IGL01785:Abhd18	APN	3	40905904	missense	probably damaging	1.00
IGL02318:Abhd18	APN	3	40930227	critical splice donor site	probably null
IGL02447:Abhd18	APN	3	40933773	missense	probably benign
IGL02823:Abhd18	APN	3	40933518	splice site	probably benign
IGL03023:Abhd18	APN	3	40904984	missense	probably damaging	0.98
F2404:Abhd18	UTSW	3	40933878	missense	probably damaging	0.99
R0064:Abhd18	UTSW	3	40933853	missense	probably benign	0.00
R0494:Abhd18	UTSW	3	40916688	missense	probably damaging	1.00
R1994:Abhd18	UTSW	3	40934926	nonsense	probably null
R2206:Abhd18	UTSW	3	40910573	missense	probably benign	0.00
R2223:Abhd18	UTSW	3	40934861	splice site	probably benign
R2698:Abhd18	UTSW	3	40930966	missense	probably benign	0.03
R3406:Abhd18	UTSW	3	40904903	start codon destroyed	probably null	1.00
R3747:Abhd18	UTSW	3	40933573	missense	probably benign
R4899:Abhd18	UTSW	3	40905869	splice site	probably null
R5259:Abhd18	UTSW	3	40916890	missense	probably damaging	1.00
R5673:Abhd18	UTSW	3	40923451	missense	probably damaging	1.00
R5713:Abhd18	UTSW	3	40934979	nonsense	probably null
R5797:Abhd18	UTSW	3	40933551	missense	probably benign	0.08
R5983:Abhd18	UTSW	3	40910544	missense	probably damaging	1.00
R6333:Abhd18	UTSW	3	40933783	missense	probably benign
R6980:Abhd18	UTSW	3	40933780	missense	probably benign
R7085:Abhd18	UTSW	3	40916909	missense	possibly damaging	0.90
R7091:Abhd18	UTSW	3	40916738	missense	probably damaging	0.99
R7096:Abhd18	UTSW	3	40933870	missense	probably damaging	1.00
R7168:Abhd18	UTSW	3	40934936	missense	probably damaging	1.00
R8027:Abhd18	UTSW	3	40933723	missense	probably benign	0.03
R8193:Abhd18	UTSW	3	40930225	missense	probably benign	0.34
R8414:Abhd18	UTSW	3	40933626	missense	probably benign
R8434:Abhd18	UTSW	3	40930896	missense	possibly damaging	0.65
R8725:Abhd18	UTSW	3	40930192	missense	probably damaging	1.00
R8727:Abhd18	UTSW	3	40930192	missense	probably damaging	1.00
R9218:Abhd18	UTSW	3	40916766	critical splice donor site	probably null
R9461:Abhd18	UTSW	3	40904884	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCAAGTGCCATAAGTCTGGTAAAA -3'
(R):5'- actgtgcaagctaTATCTCTAGTCCCAA -3'

Sequencing Primer
(F):5'- CTGGTAAAACATCTATCAGTGCTCC -3'
(R):5'- tcccagcacccacagag -3'

Posted On

2013-05-09