Mutagenetix > Incidental Mutation

Incidental Mutation 'R2035:Abhd15'

224499

Institutional Source

Beutler Lab

Gene Symbol

Abhd15

Ensembl Gene

ENSMUSG00000000686

Gene Name

abhydrolase domain containing 15

Synonyms

1300007F04Rik

MMRRC Submission

040042-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77405943-77411454 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77406536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 171 (L171P)

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: L171P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091541
Gene: ENSMUSG00000000686
AA Change: L171P

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

noncoding transcript
Transcript: ENSMUST00000124690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126857

Predicted Effect

unknown
Transcript: ENSMUST00000136101
AA Change: E7G

SMART Domains

Protein: ENSMUSP00000122898
Gene: ENSMUSG00000044328
AA Change: E7G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139195

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145676

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,760,761 (GRCm39)	*1273Q	probably null	Het
Aars2	A	G	17: 45,825,727 (GRCm39)	I348V	possibly damaging	Het
Abca8b	G	A	11: 109,847,932 (GRCm39)	R788C	possibly damaging	Het
Abi3bp	A	T	16: 56,480,581 (GRCm39)	H686L	probably benign	Het
Acsl1	A	G	8: 46,981,621 (GRCm39)	Y456C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	T	A	3: 88,973,624 (GRCm39)	V2561D	probably benign	Het
B3galnt2	T	A	13: 14,140,909 (GRCm39)	F44I	probably benign	Het
Bicra	A	T	7: 15,730,338 (GRCm39)	H24Q	possibly damaging	Het
Ccdc163	T	C	4: 116,568,530 (GRCm39)	S195P	probably damaging	Het
Cd163	A	T	6: 124,297,588 (GRCm39)	K911N	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Dctn4	T	A	18: 60,671,489 (GRCm39)	D120E	possibly damaging	Het
Dnali1	C	T	4: 124,952,903 (GRCm39)	V207M	probably damaging	Het
Dnhd1	A	G	7: 105,354,128 (GRCm39)	Q3036R	probably damaging	Het
Dst	G	A	1: 34,310,494 (GRCm39)	R4098H	probably damaging	Het
Eml5	A	T	12: 98,760,525 (GRCm39)	N1741K	probably benign	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Entr1	T	A	2: 26,273,639 (GRCm39)	S374C	probably damaging	Het
Ess2	A	G	16: 17,727,950 (GRCm39)		probably null	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Gm4841	T	G	18: 60,402,929 (GRCm39)	Y388S	probably benign	Het
Grin3a	T	C	4: 49,771,336 (GRCm39)	T479A	probably damaging	Het
Gucy2e	C	A	11: 69,118,358 (GRCm39)	V743L	probably benign	Het
Il33	T	A	19: 29,932,037 (GRCm39)	N143K	probably damaging	Het
Ism1	T	A	2: 139,599,075 (GRCm39)	S349R	probably damaging	Het
Itgb2	T	A	10: 77,383,033 (GRCm39)	D134E	probably damaging	Het
Kcnk1	A	C	8: 126,752,108 (GRCm39)	N238T	possibly damaging	Het
Kcnu1	G	T	8: 26,386,721 (GRCm39)	V535L	probably benign	Het
Muc19	T	A	15: 91,776,599 (GRCm39)		noncoding transcript	Het
Mycbp2	A	T	14: 103,497,675 (GRCm39)	Y966N	probably damaging	Het
Myo19	A	T	11: 84,788,434 (GRCm39)	M349L	probably benign	Het
Narf	G	A	11: 121,129,326 (GRCm39)	A37T	probably benign	Het
Ncapd2	T	C	6: 125,161,491 (GRCm39)	N208D	probably benign	Het
Nr1i2	A	G	16: 38,071,488 (GRCm39)		probably null	Het
Opn5	A	G	17: 42,918,052 (GRCm39)	I70T	probably damaging	Het
Or52e19	T	A	7: 102,959,463 (GRCm39)	H178Q	probably damaging	Het
Or7a38	T	C	10: 78,753,421 (GRCm39)	V249A	possibly damaging	Het
Pkn2	G	T	3: 142,526,348 (GRCm39)	P410T	probably damaging	Het
Pla2r1	T	C	2: 60,253,080 (GRCm39)	N1337S	probably damaging	Het
Prkd3	A	T	17: 79,282,802 (GRCm39)		probably null	Het
Pum2	T	A	12: 8,778,638 (GRCm39)	Y429*	probably null	Het
Resf1	G	A	6: 149,230,724 (GRCm39)	V1257I	possibly damaging	Het
Rttn	T	A	18: 89,038,340 (GRCm39)	V812E	probably damaging	Het
Rufy2	T	A	10: 62,842,526 (GRCm39)	L483H	probably damaging	Het
Slc35a3	T	A	3: 116,480,972 (GRCm39)	Q97L	probably damaging	Het
St18	A	T	1: 6,872,552 (GRCm39)	M96L	probably benign	Het
Strc	G	A	2: 121,205,415 (GRCm39)	A905V	probably damaging	Het
Syne3	T	C	12: 104,924,386 (GRCm39)	M338V	probably benign	Het
Syngr2	A	G	11: 117,704,186 (GRCm39)	D187G	probably benign	Het
Tas2r109	A	C	6: 132,957,423 (GRCm39)	I169R	probably benign	Het
Tbc1d22a	T	A	15: 86,275,266 (GRCm39)		probably null	Het
Thbs1	T	A	2: 117,948,821 (GRCm39)		probably null	Het
Them6	C	A	15: 74,593,524 (GRCm39)	D127E	probably damaging	Het
Tmem132d	T	C	5: 127,869,522 (GRCm39)	D604G	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Topors	T	C	4: 40,262,879 (GRCm39)	N135S	probably damaging	Het
Unc80	A	T	1: 66,645,752 (GRCm39)	D1476V	probably damaging	Het
Vmn1r17	A	G	6: 57,337,573 (GRCm39)	V264A	probably benign	Het
Vmn1r193	T	A	13: 22,403,732 (GRCm39)	T87S	probably benign	Het
Vmn1r202	C	A	13: 22,685,772 (GRCm39)	R215L	probably damaging	Het
Vmn2r24	A	T	6: 123,793,019 (GRCm39)	N782I	probably damaging	Het
Vmn2r53	A	G	7: 12,332,438 (GRCm39)	F404L	possibly damaging	Het
Xpo4	A	T	14: 57,823,383 (GRCm39)	C1036S	possibly damaging	Het
Yae1d1	T	C	13: 18,164,306 (GRCm39)	N104D	probably benign	Het
Zan	C	A	5: 137,442,209 (GRCm39)	R1901L	unknown	Het
Zbtb9	G	A	17: 27,193,897 (GRCm39)	R434H	probably damaging	Het
Zdhhc23	A	C	16: 43,793,871 (GRCm39)	C268G	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
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
R8873:Abhd15	UTSW	11	77,406,577 (GRCm39)	missense	probably damaging	1.00
R9245:Abhd15	UTSW	11	77,406,312 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TGCAGCCTCATTTGCAAGC -3'
(R):5'- CAGTCACATAGCTGGAGGAG -3'

Sequencing Primer
(F):5'- TCATTTGCAAGCCGTCGG -3'
(R):5'- CCCAAGTAGGACAGCAGCAG -3'

Posted On

2014-08-25