Mutagenetix > Incidental Mutation

Incidental Mutation 'R5917:Smpdl3a'

461412

Institutional Source

Beutler Lab

Gene Symbol

Smpdl3a

Ensembl Gene

ENSMUSG00000019872

Gene Name

sphingomyelin phosphodiesterase, acid-like 3A

Synonyms

ASM3A, 0610010C24Rik, ASML3A

MMRRC Submission

044114-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5917 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57670640-57687926 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 57681654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020022] [ENSMUST00000151623]

AlphaFold

P70158

Predicted Effect

probably null
Transcript: ENSMUST00000020022

SMART Domains

Protein: ENSMUSP00000020022
Gene: ENSMUSG00000019872

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Metallophos	35	294	1.7e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125076

Predicted Effect

probably benign
Transcript: ENSMUST00000151623

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,516 (GRCm39)	R1153*	probably null	Het
Amdhd1	T	C	10: 93,360,332 (GRCm39)	H409R	possibly damaging	Het
Anks1b	C	T	10: 90,412,803 (GRCm39)		probably benign	Het
Ascc2	T	C	11: 4,631,506 (GRCm39)	L649P	probably benign	Het
Chst15	A	G	7: 131,872,246 (GRCm39)	F12L	probably benign	Het
Clec4a4	A	T	6: 122,981,017 (GRCm39)	K83N	probably benign	Het
Comp	T	A	8: 70,829,011 (GRCm39)		probably null	Het
Cryz	T	A	3: 154,327,403 (GRCm39)	S144T	probably benign	Het
Ctss	A	G	3: 95,450,424 (GRCm39)	D125G	probably benign	Het
Dact1	G	T	12: 71,365,456 (GRCm39)	V746L	possibly damaging	Het
Dhx29	A	G	13: 113,099,377 (GRCm39)	H1134R	probably damaging	Het
Dlgap4	A	G	2: 156,546,460 (GRCm39)	D376G	probably damaging	Het
Dnah3	T	A	7: 119,615,749 (GRCm39)	H1660L	probably damaging	Het
Ep300	T	A	15: 81,512,808 (GRCm39)		probably benign	Het
Fbxo30	A	T	10: 11,165,262 (GRCm39)		probably null	Het
Fcrl2	T	A	3: 87,164,094 (GRCm39)	H345L	probably damaging	Het
Galnt11	C	A	5: 25,452,670 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,682,846 (GRCm39)	C87R	probably benign	Het
Itga4	A	T	2: 79,117,442 (GRCm39)	Q416L	probably damaging	Het
Kcnt2	A	T	1: 140,461,666 (GRCm39)	T806S	probably damaging	Het
Lama2	A	G	10: 27,066,693 (GRCm39)	S1063P	probably damaging	Het
Lama4	T	A	10: 38,924,028 (GRCm39)	S479T	probably benign	Het
Lgi4	C	T	7: 30,759,603 (GRCm39)	T53M	possibly damaging	Het
Limk1	A	G	5: 134,686,789 (GRCm39)	F533L	probably damaging	Het
Loxl1	A	G	9: 58,220,006 (GRCm39)	L55P	probably damaging	Het
Map1a	A	G	2: 121,135,697 (GRCm39)	E1933G	probably damaging	Het
Matn2	T	A	15: 34,409,912 (GRCm39)	C447*	probably null	Het
Mmrn1	T	C	6: 60,950,134 (GRCm39)		probably null	Het
Or2a7	C	T	6: 43,151,646 (GRCm39)	S242F	probably damaging	Het
Or4a66	A	T	2: 88,531,049 (GRCm39)	I208N	possibly damaging	Het
Or4d1	A	T	11: 87,805,215 (GRCm39)	N172K	probably damaging	Het
Otor	A	G	2: 142,920,431 (GRCm39)	I4M	probably benign	Het
P2rx3	A	T	2: 84,865,591 (GRCm39)	V18E	probably damaging	Het
Pcdh7	T	C	5: 57,879,097 (GRCm39)	V884A	probably damaging	Het
Pcdhb4	T	A	18: 37,442,619 (GRCm39)	V643D	probably damaging	Het
Pelo	A	G	13: 115,225,930 (GRCm39)	S176P	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,183 (GRCm39)	V380E	probably benign	Het
Proc	T	A	18: 32,260,513 (GRCm39)	D204V	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Resf1	T	C	6: 149,236,179 (GRCm39)	F1500L	probably damaging	Het
Rtl1	T	G	12: 109,558,087 (GRCm39)	T1251P	possibly damaging	Het
Sema6a	T	G	18: 47,414,405 (GRCm39)	I482L	probably benign	Het
Strc	T	A	2: 121,209,790 (GRCm39)	M178L	probably benign	Het
Taok1	A	T	11: 77,451,144 (GRCm39)	M312K	probably damaging	Het
Tle2	T	C	10: 81,416,750 (GRCm39)		probably null	Het
Tle3	A	G	9: 61,316,190 (GRCm39)	D296G	probably benign	Het
Trank1	A	G	9: 111,191,485 (GRCm39)	D498G	probably benign	Het
Vars1	C	A	17: 35,231,491 (GRCm39)	L672M	probably damaging	Het
Vps13d	G	A	4: 144,826,580 (GRCm39)	T2866I	probably damaging	Het
Zfp423	C	A	8: 88,508,860 (GRCm39)	E370*	probably null	Het
Zfp521	T	A	18: 13,978,612 (GRCm39)	K600N	probably damaging	Het
Zfp788	A	G	7: 41,298,572 (GRCm39)	K351E	probably benign	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Smpdl3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Smpdl3a	APN	10	57,684,042 (GRCm39)	missense	probably benign	0.01
IGL01530:Smpdl3a	APN	10	57,683,989 (GRCm39)	missense	probably damaging	1.00
IGL01936:Smpdl3a	APN	10	57,678,530 (GRCm39)	missense	probably damaging	1.00
IGL02342:Smpdl3a	APN	10	57,685,276 (GRCm39)	splice site	probably benign
IGL02372:Smpdl3a	APN	10	57,683,611 (GRCm39)	missense	probably benign	0.05
IGL02827:Smpdl3a	APN	10	57,678,592 (GRCm39)	missense	probably damaging	1.00
R0462:Smpdl3a	UTSW	10	57,670,827 (GRCm39)	missense	probably benign	0.07
R0658:Smpdl3a	UTSW	10	57,687,336 (GRCm39)	missense	probably damaging	0.99
R1216:Smpdl3a	UTSW	10	57,678,575 (GRCm39)	missense	probably null	0.98
R1502:Smpdl3a	UTSW	10	57,685,187 (GRCm39)	missense	probably damaging	1.00
R1559:Smpdl3a	UTSW	10	57,683,588 (GRCm39)	missense	probably damaging	0.99
R1807:Smpdl3a	UTSW	10	57,677,118 (GRCm39)	missense	probably damaging	0.99
R2872:Smpdl3a	UTSW	10	57,678,626 (GRCm39)	missense	possibly damaging	0.51
R2872:Smpdl3a	UTSW	10	57,678,626 (GRCm39)	missense	possibly damaging	0.51
R2877:Smpdl3a	UTSW	10	57,685,181 (GRCm39)	missense	probably damaging	1.00
R4799:Smpdl3a	UTSW	10	57,684,111 (GRCm39)	missense	probably damaging	1.00
R4814:Smpdl3a	UTSW	10	57,687,337 (GRCm39)	missense	probably damaging	1.00
R4916:Smpdl3a	UTSW	10	57,677,127 (GRCm39)	missense	probably damaging	1.00
R5137:Smpdl3a	UTSW	10	57,677,163 (GRCm39)	missense	possibly damaging	0.93
R5778:Smpdl3a	UTSW	10	57,677,097 (GRCm39)	missense	probably damaging	0.98
R5781:Smpdl3a	UTSW	10	57,684,034 (GRCm39)	missense	possibly damaging	0.78
R6044:Smpdl3a	UTSW	10	57,687,358 (GRCm39)	missense	possibly damaging	0.82
R6773:Smpdl3a	UTSW	10	57,678,533 (GRCm39)	missense	probably damaging	0.99
R6863:Smpdl3a	UTSW	10	57,684,107 (GRCm39)	nonsense	probably null
R7480:Smpdl3a	UTSW	10	57,678,574 (GRCm39)	missense	possibly damaging	0.87
R7731:Smpdl3a	UTSW	10	57,678,650 (GRCm39)	missense	probably damaging	1.00
R7923:Smpdl3a	UTSW	10	57,677,141 (GRCm39)	missense	probably damaging	1.00
R8120:Smpdl3a	UTSW	10	57,683,547 (GRCm39)	missense	probably damaging	1.00
R8344:Smpdl3a	UTSW	10	57,677,073 (GRCm39)	missense	possibly damaging	0.81
R8377:Smpdl3a	UTSW	10	57,677,032 (GRCm39)	missense	possibly damaging	0.88
R8712:Smpdl3a	UTSW	10	57,687,526 (GRCm39)	missense	probably benign	0.44
R8876:Smpdl3a	UTSW	10	57,685,166 (GRCm39)	missense	probably damaging	1.00
R9003:Smpdl3a	UTSW	10	57,683,977 (GRCm39)	missense	probably damaging	1.00
R9145:Smpdl3a	UTSW	10	57,677,028 (GRCm39)	missense	possibly damaging	0.76
R9266:Smpdl3a	UTSW	10	57,678,596 (GRCm39)	missense	possibly damaging	0.51
Z1176:Smpdl3a	UTSW	10	57,681,714 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCACCATGTCCTAAAGTTAGC -3'
(R):5'- ATCCAAAGTGGGTGAGTGC -3'

Sequencing Primer
(F):5'- ACCATGTCCTAAAGTTAGCCTATCG -3'
(R):5'- TGAGTGCAGAAACTATCTAGACCTG -3'

Posted On

2017-02-28