Mutagenetix > Incidental Mutation

Incidental Mutation 'R2223:Abhd18'

241600

Institutional Source

Beutler Lab

Gene Symbol

Abhd18

Ensembl Gene

ENSMUSG00000037818

Gene Name

abhydrolase domain containing 18

Synonyms

3110057O12Rik

MMRRC Submission

040224-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R2223 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40825532-40892573 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 40889296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145095 (fasta)

Gene Model

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

AlphaFold

Q8C1A9

Predicted Effect

probably benign
Transcript: ENSMUST00000108077

SMART Domains

Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818

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

SMART Domains

Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818

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

SMART Domains

Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	C	T	15: 101,100,924 (GRCm39)	A362V	probably benign	Het
Adamts5	A	C	16: 85,696,194 (GRCm39)	L321R	probably damaging	Het
Adamtsl1	A	C	4: 86,306,762 (GRCm39)	D1392A	probably benign	Het
Afdn	T	C	17: 14,103,999 (GRCm39)		probably benign	Het
Aph1b	A	T	9: 66,691,921 (GRCm39)	M121K	probably damaging	Het
Aspg	G	A	12: 112,080,868 (GRCm39)	A120T	probably damaging	Het
Atp8b1	T	A	18: 64,697,428 (GRCm39)	N472I	possibly damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cdcp3	A	T	7: 130,849,186 (GRCm39)		probably null	Het
Cfd	A	T	10: 79,728,039 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,141,412 (GRCm39)	E242G	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cradd	A	C	10: 95,011,735 (GRCm39)	V135G	probably benign	Het
Cry1	A	G	10: 84,979,617 (GRCm39)	C460R	probably damaging	Het
Cryz	A	T	3: 154,324,191 (GRCm39)	N192I	possibly damaging	Het
Cyp2d11	T	A	15: 82,274,332 (GRCm39)	M350L	probably benign	Het
Emsy	T	C	7: 98,239,982 (GRCm39)	E1091G	possibly damaging	Het
Exoc3l4	C	G	12: 111,392,586 (GRCm39)	A471G	possibly damaging	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Fmo2	C	T	1: 162,725,813 (GRCm39)	C21Y	probably damaging	Het
Glul	T	A	1: 153,782,243 (GRCm39)		probably null	Het
Gm5174	T	A	10: 86,492,372 (GRCm39)		noncoding transcript	Het
Gtpbp2	A	G	17: 46,478,153 (GRCm39)	I434V	probably benign	Het
Kctd10	G	T	5: 114,505,410 (GRCm39)	R195S	probably benign	Het
Lrrc38	T	A	4: 143,096,419 (GRCm39)	C243*	probably null	Het
Luc7l2	T	C	6: 38,542,659 (GRCm39)		probably benign	Het
Magi2	T	A	5: 20,670,670 (GRCm39)	V111D	probably damaging	Het
Map3k5	T	C	10: 19,943,666 (GRCm39)	V590A	possibly damaging	Het
Megf11	G	A	9: 64,567,713 (GRCm39)	G401S	possibly damaging	Het
Mgat4d	G	A	8: 84,082,301 (GRCm39)		probably benign	Het
Mroh1	T	C	15: 76,292,245 (GRCm39)		probably null	Het
Mx1	T	C	16: 97,256,432 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,046,815 (GRCm39)		probably benign	Het
Ntrk3	T	C	7: 77,848,600 (GRCm39)	I759V	probably damaging	Het
Or6c210	T	A	10: 129,495,678 (GRCm39)	M1K	probably null	Het
Pde8b	T	C	13: 95,179,955 (GRCm39)	N318S	probably damaging	Het
Pkd1l1	T	C	11: 8,839,063 (GRCm39)	T874A	probably benign	Het
Pkd1l1	T	C	11: 8,900,422 (GRCm39)	T40A	probably benign	Het
Prdm2	T	C	4: 142,861,469 (GRCm39)	N607S	possibly damaging	Het
Ptprn	A	T	1: 75,234,581 (GRCm39)		probably benign	Het
Setx	T	G	2: 29,038,549 (GRCm39)	I1678S	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Snap91	T	C	9: 86,674,580 (GRCm39)	T544A	possibly damaging	Het
Sp8	G	A	12: 118,813,473 (GRCm39)	G443S	probably damaging	Het
Stk39	C	T	2: 68,144,923 (GRCm39)	G384S	probably damaging	Het
Sva	T	A	6: 42,015,357 (GRCm39)	M1K	probably null	Het
Trip10	A	G	17: 57,570,039 (GRCm39)	D568G	possibly damaging	Het
Trpa1	A	T	1: 14,973,480 (GRCm39)	F279L	probably null	Het
Ttc39b	T	C	4: 83,150,999 (GRCm39)	N532S	probably benign	Het
Ube2w	A	G	1: 16,668,183 (GRCm39)	S97P	possibly damaging	Het
Uvssa	C	T	5: 33,549,407 (GRCm39)	T356I	probably damaging	Het
Vmn1r25	A	C	6: 57,956,223 (GRCm39)	L22R	probably damaging	Het
Vmn2r112	T	G	17: 22,820,214 (GRCm39)	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,273,301 (GRCm39)	M705K	probably benign	Het
Zfp516	C	A	18: 82,973,895 (GRCm39)	A31D	possibly damaging	Het

Other mutations in Abhd18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Abhd18	APN	3	40,888,077 (GRCm39)	missense	probably benign	0.00
IGL01785:Abhd18	APN	3	40,860,339 (GRCm39)	missense	probably damaging	1.00
IGL02318:Abhd18	APN	3	40,884,662 (GRCm39)	critical splice donor site	probably null
IGL02447:Abhd18	APN	3	40,888,208 (GRCm39)	missense	probably benign
IGL02823:Abhd18	APN	3	40,887,953 (GRCm39)	splice site	probably benign
IGL03023:Abhd18	APN	3	40,859,419 (GRCm39)	missense	probably damaging	0.98
F2404:Abhd18	UTSW	3	40,888,313 (GRCm39)	missense	probably damaging	0.99
R0064:Abhd18	UTSW	3	40,888,288 (GRCm39)	missense	probably benign	0.00
R0064:Abhd18	UTSW	3	40,888,288 (GRCm39)	missense	probably benign	0.00
R0494:Abhd18	UTSW	3	40,871,123 (GRCm39)	missense	probably damaging	1.00
R1994:Abhd18	UTSW	3	40,889,361 (GRCm39)	nonsense	probably null
R2206:Abhd18	UTSW	3	40,865,008 (GRCm39)	missense	probably benign	0.00
R2698:Abhd18	UTSW	3	40,885,401 (GRCm39)	missense	probably benign	0.03
R3406:Abhd18	UTSW	3	40,859,338 (GRCm39)	start codon destroyed	probably null	1.00
R3747:Abhd18	UTSW	3	40,888,008 (GRCm39)	missense	probably benign
R4899:Abhd18	UTSW	3	40,860,304 (GRCm39)	splice site	probably null
R5259:Abhd18	UTSW	3	40,871,325 (GRCm39)	missense	probably damaging	1.00
R5673:Abhd18	UTSW	3	40,877,886 (GRCm39)	missense	probably damaging	1.00
R5713:Abhd18	UTSW	3	40,889,414 (GRCm39)	nonsense	probably null
R5797:Abhd18	UTSW	3	40,887,986 (GRCm39)	missense	probably benign	0.08
R5983:Abhd18	UTSW	3	40,864,979 (GRCm39)	missense	probably damaging	1.00
R6333:Abhd18	UTSW	3	40,888,218 (GRCm39)	missense	probably benign
R6980:Abhd18	UTSW	3	40,888,215 (GRCm39)	missense	probably benign
R7085:Abhd18	UTSW	3	40,871,344 (GRCm39)	missense	possibly damaging	0.90
R7091:Abhd18	UTSW	3	40,871,173 (GRCm39)	missense	probably damaging	0.99
R7096:Abhd18	UTSW	3	40,888,305 (GRCm39)	missense	probably damaging	1.00
R7168:Abhd18	UTSW	3	40,889,371 (GRCm39)	missense	probably damaging	1.00
R8027:Abhd18	UTSW	3	40,888,158 (GRCm39)	missense	probably benign	0.03
R8193:Abhd18	UTSW	3	40,884,660 (GRCm39)	missense	probably benign	0.34
R8414:Abhd18	UTSW	3	40,888,061 (GRCm39)	missense	probably benign
R8434:Abhd18	UTSW	3	40,885,331 (GRCm39)	missense	possibly damaging	0.65
R8725:Abhd18	UTSW	3	40,884,627 (GRCm39)	missense	probably damaging	1.00
R8727:Abhd18	UTSW	3	40,884,627 (GRCm39)	missense	probably damaging	1.00
R9218:Abhd18	UTSW	3	40,871,201 (GRCm39)	critical splice donor site	probably null
R9461:Abhd18	UTSW	3	40,859,319 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTAGATGAATATTGTGGTACCATTGTA -3'
(R):5'- ACCTGGTGAGACAATTCATCTT -3'

Sequencing Primer
(F):5'- AATTCCACTAGACTGGCTTGG -3'
(R):5'- GGTGAGACAATTCATCTTACCTGAAG -3'

Posted On

2014-10-15