Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Abhd18'

550196

Institutional Source

Beutler Lab

Gene Symbol

Abhd18

Ensembl Gene

ENSMUSG00000037818

Gene Name

abhydrolase domain containing 18

Synonyms

3110057O12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40846970-40938138 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40916738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 111 (I111L)

Ref Sequence

ENSEMBL: ENSMUSP00000103712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108077] [ENSMUST00000108078] [ENSMUST00000159774] [ENSMUST00000203214] [ENSMUST00000203472] [ENSMUST00000203650] [ENSMUST00000203892] [ENSMUST00000204496] [ENSMUST00000205065]

AlphaFold

Q8C1A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000108077
AA Change: I111L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
AA Change: I111L

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 damaging
Transcript: ENSMUST00000108078
AA Change: I111L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
AA Change: I111L

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 damaging
Transcript: ENSMUST00000159774
AA Change: I111L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
AA Change: I111L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203214

SMART Domains

Protein: ENSMUSP00000144946
Gene: ENSMUSG00000037818

Domain	Start	End	E-Value	Type
Pfam:DUF2048	16	62	1.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203472
AA Change: I35L

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145313
Gene: ENSMUSG00000037818
AA Change: I35L

Domain	Start	End	E-Value	Type
Pfam:DUF2048	1	75	1.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203650
AA Change: I35L

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145006
Gene: ENSMUSG00000037818
AA Change: I35L

Domain	Start	End	E-Value	Type
Pfam:DUF2048	1	130	8.8e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203892
AA Change: I111L

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145150
Gene: ENSMUSG00000037818
AA Change: I111L

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

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
AA Change: I111L

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145095
Gene: ENSMUSG00000037818
AA Change: I111L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	probably damaging	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
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
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'- AATGTAAATCCTCTGCCCCATC -3'
(R):5'- ACGAGCCATGAGTGTTCTGC -3'

Sequencing Primer
(F):5'- CTGGGCATGATGATACACACCTG -3'
(R):5'- CGCCTCCAGTAATGCTATGGAAAG -3'

Posted On

2019-05-15