Mutagenetix > Incidental Mutation

Incidental Mutation 'R8873:Abhd15'

676424

Institutional Source

Beutler Lab

Gene Symbol

Abhd15

Ensembl Gene

ENSMUSG00000000686

Gene Name

abhydrolase domain containing 15

Synonyms

1300007F04Rik

MMRRC Submission

068686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8873 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77405943-77411454 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77406577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 185 (R185S)

Ref Sequence

ENSEMBL: ENSMUSP00000091541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060417] [ENSMUST00000094004] [ENSMUST00000100807]

AlphaFold

Q5F2F2

Predicted Effect

probably benign
Transcript: ENSMUST00000060417

SMART Domains

Protein: ENSMUSP00000057592
Gene: ENSMUSG00000044328

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	77	90	N/A	INTRINSIC
low complexity region	130	139	N/A	INTRINSIC
low complexity region	188	205	N/A	INTRINSIC
low complexity region	222	236	N/A	INTRINSIC
low complexity region	281	299	N/A	INTRINSIC
transmembrane domain	303	325	N/A	INTRINSIC
low complexity region	350	375	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094004
AA Change: R185S

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

SMART Domains

Protein: ENSMUSP00000091541
Gene: ENSMUSG00000000686
AA Change: R185S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	69	84	N/A	INTRINSIC
low complexity region	226	239	N/A	INTRINSIC
SCOP:d1din__	319	411	8e-7	SMART
low complexity region	418	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100807

SMART Domains

Protein: ENSMUSP00000098370
Gene: ENSMUSG00000072673

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136101

SMART Domains

Protein: ENSMUSP00000122898
Gene: ENSMUSG00000044328

Domain	Start	End	E-Value	Type
low complexity region	114	127	N/A	INTRINSIC
low complexity region	167	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145676

Predicted Effect

probably benign
Transcript: ENSMUST00000147386

SMART Domains

Protein: ENSMUSP00000116682
Gene: ENSMUSG00000000686

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoah	A	G	13: 21,089,852 (GRCm39)	N157D	probably benign	Het
Arhgap35	T	C	7: 16,295,415 (GRCm39)	N1217D	possibly damaging	Het
Asah2	A	T	19: 32,022,288 (GRCm39)		probably null	Het
Asb2	T	C	12: 103,299,725 (GRCm39)	N236D	probably damaging	Het
Auts2	A	G	5: 131,472,502 (GRCm39)	F317L		Het
Cfap74	T	C	4: 155,539,465 (GRCm39)	I930T	unknown	Het
Cmip	T	C	8: 118,103,929 (GRCm39)	V51A	probably damaging	Het
Col15a1	T	C	4: 47,247,552 (GRCm39)		probably null	Het
Cstf3	A	T	2: 104,475,355 (GRCm39)	H97L	possibly damaging	Het
Dip2c	A	T	13: 9,625,182 (GRCm39)	M559L	probably benign	Het
Dnah5	A	G	15: 28,219,334 (GRCm39)	N51D	probably benign	Het
Dock4	T	A	12: 40,726,767 (GRCm39)	Y348*	probably null	Het
Ehhadh	C	T	16: 21,581,598 (GRCm39)	G465R	probably damaging	Het
Fam110b	C	T	4: 5,799,103 (GRCm39)	Q174*	probably null	Het
Fam124a	A	G	14: 62,844,024 (GRCm39)	T511A	probably benign	Het
Fbxl17	A	G	17: 63,691,971 (GRCm39)	V528A	probably damaging	Het
Fbxw24	C	A	9: 109,453,996 (GRCm39)	W50L	probably damaging	Het
Fyb2	A	T	4: 104,856,538 (GRCm39)	E582V	probably damaging	Het
Ganab	G	A	19: 8,888,243 (GRCm39)	W463*	probably null	Het
Gm11569	G	T	11: 99,689,210 (GRCm39)	T163N	unknown	Het
Gm8237	G	T	14: 5,862,453 (GRCm38)	Y86*	probably null	Het
Hrh4	T	A	18: 13,140,195 (GRCm39)	M30K		Het
Ifi209	A	G	1: 173,470,156 (GRCm39)	Y248C	probably damaging	Het
Jazf1	T	A	6: 52,789,165 (GRCm39)	H103L	probably damaging	Het
Ltbp1	A	G	17: 75,486,172 (GRCm39)	T66A	probably damaging	Het
Ndufa4	A	G	6: 11,907,360 (GRCm39)	L2P	probably benign	Het
Npnt	G	A	3: 132,655,816 (GRCm39)		probably benign	Het
Nrxn1	G	T	17: 90,872,821 (GRCm39)	C1052*	probably null	Het
Nsmce4a	G	T	7: 130,148,886 (GRCm39)	A40E	unknown	Het
Or2t6	A	T	14: 14,175,344 (GRCm38)	V246E	probably damaging	Het
Pcdhgb2	T	C	18: 37,824,341 (GRCm39)	V444A	probably damaging	Het
Pcdhgb7	C	T	18: 37,886,575 (GRCm39)	P582S	possibly damaging	Het
Phf3	T	C	1: 30,843,773 (GRCm39)	T1729A	possibly damaging	Het
Plod2	T	A	9: 92,489,112 (GRCm39)		probably benign	Het
Pramel15	G	T	4: 144,099,871 (GRCm39)	A298E	probably benign	Het
Rbm20	G	T	19: 53,665,911 (GRCm39)	V25F	probably benign	Het
Recql	G	T	6: 142,308,013 (GRCm39)	Q53K		Het
Rps18-ps6	T	A	13: 97,896,843 (GRCm39)	N85I	probably damaging	Het
Rtel1	CAAA	CAA	2: 180,997,816 (GRCm39)		probably null	Het
Serpine2	A	G	1: 79,799,267 (GRCm39)		probably benign	Het
Siglecg	A	G	7: 43,067,448 (GRCm39)	T672A	probably benign	Het
Skil	T	C	3: 31,152,075 (GRCm39)	L199P	probably damaging	Het
Tmprss11f	C	T	5: 86,692,733 (GRCm39)	A64T	probably damaging	Het
Ttc3	C	T	16: 94,243,842 (GRCm39)	T1282M	probably damaging	Het

Other mutations in Abhd15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02164:Abhd15	APN	11	77,406,840 (GRCm39)	missense	probably benign	0.40
IGL02958:Abhd15	APN	11	77,406,791 (GRCm39)	missense	possibly damaging	0.94
R1466:Abhd15	UTSW	11	77,406,236 (GRCm39)	missense	probably damaging	1.00
R1466:Abhd15	UTSW	11	77,406,236 (GRCm39)	missense	probably damaging	1.00
R1552:Abhd15	UTSW	11	77,406,233 (GRCm39)	missense	probably damaging	1.00
R1584:Abhd15	UTSW	11	77,406,236 (GRCm39)	missense	probably damaging	1.00
R2035:Abhd15	UTSW	11	77,406,536 (GRCm39)	missense	probably damaging	1.00
R2044:Abhd15	UTSW	11	77,409,164 (GRCm39)	missense	probably benign	0.00
R3937:Abhd15	UTSW	11	77,406,764 (GRCm39)	missense	probably benign	0.01
R5337:Abhd15	UTSW	11	77,409,665 (GRCm39)	critical splice donor site	probably null
R5851:Abhd15	UTSW	11	77,409,273 (GRCm39)	missense	probably benign	0.17
R6488:Abhd15	UTSW	11	77,406,848 (GRCm39)	missense	possibly damaging	0.81
R7172:Abhd15	UTSW	11	77,406,122 (GRCm39)	missense	probably benign	0.00
R7792:Abhd15	UTSW	11	77,409,560 (GRCm39)	missense	probably benign	0.34
R9245:Abhd15	UTSW	11	77,406,312 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CTCTGGATTGGGTCATAGGAC -3'
(R):5'- TTTTCTGGTGCAGCAAGAAC -3'

Sequencing Primer
(F):5'- TCATAGGACCTTGTGCCAGG -3'
(R):5'- ACGTTCATAGGGCCAAGGC -3'

Posted On

2021-07-15