Mutagenetix > Incidental Mutation

Incidental Mutation 'R5778:Smpdl3a'

446830

Institutional Source

Beutler Lab

Gene Symbol

Smpdl3a

Ensembl Gene

ENSMUSG00000019872

Gene Name

sphingomyelin phosphodiesterase, acid-like 3A

Synonyms

ASM3A, 0610010C24Rik, ASML3A

MMRRC Submission

043376-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57670640-57687926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57677097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 65 (A65E)

Ref Sequence

ENSEMBL: ENSMUSP00000020022 (fasta)

Gene Model

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

AlphaFold

P70158

Predicted Effect

probably damaging
Transcript: ENSMUST00000020022
AA Change: A65E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020022
Gene: ENSMUSG00000019872
AA Change: A65E

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

possibly damaging
Transcript: ENSMUST00000151623
AA Change: A35E

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	A	G	8: 124,618,864 (GRCm39)	S340P	probably benign	Het
Anpep	T	C	7: 79,486,139 (GRCm39)	T528A	probably benign	Het
Apob	T	A	12: 8,065,074 (GRCm39)	D4014E	probably benign	Het
Atp23	A	G	10: 126,735,451 (GRCm39)	C78R	probably damaging	Het
Atp8b3	A	G	10: 80,356,007 (GRCm39)	F1235S	probably benign	Het
B3gnt3	T	C	8: 72,145,582 (GRCm39)	D262G	probably benign	Het
Bltp1	A	T	3: 37,012,863 (GRCm39)	I1848F	probably damaging	Het
Brca1	G	A	11: 101,416,127 (GRCm39)	A669V	possibly damaging	Het
Caprin2	A	T	6: 148,770,820 (GRCm39)	S391R	probably benign	Het
Cdh15	G	A	8: 123,583,326 (GRCm39)	R43Q	possibly damaging	Het
Celsr1	A	T	15: 85,917,156 (GRCm39)	N272K	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Dsg1b	A	T	18: 20,542,279 (GRCm39)	T929S	possibly damaging	Het
Dusp16	G	T	6: 134,695,277 (GRCm39)	T518N	probably benign	Het
Eno2	A	T	6: 124,743,261 (GRCm39)	H158Q	probably damaging	Het
Ep400	T	C	5: 110,867,450 (GRCm39)	D954G	unknown	Het
Erg28	T	C	12: 85,866,254 (GRCm39)	T75A	possibly damaging	Het
Fam135b	T	A	15: 71,350,881 (GRCm39)	T332S	probably damaging	Het
Fam221b	A	G	4: 43,660,683 (GRCm39)	F357L	probably damaging	Het
Fcgr2b	C	T	1: 170,790,957 (GRCm39)	G279R	probably damaging	Het
Fryl	A	T	5: 73,230,121 (GRCm39)	L1679M	probably damaging	Het
Galm	T	A	17: 80,435,146 (GRCm39)	M1K	probably null	Het
Gsg1	A	T	6: 135,221,348 (GRCm39)	I17N	possibly damaging	Het
Hif3a	A	T	7: 16,785,909 (GRCm39)	I129N	probably damaging	Het
Ighv1-11	A	T	12: 114,576,051 (GRCm39)	W55R	probably damaging	Het
Ighv1-20	C	A	12: 114,687,497 (GRCm39)	K82N	probably benign	Het
Igsf21	C	T	4: 139,764,832 (GRCm39)	E148K	probably benign	Het
Il22b	C	A	10: 118,130,768 (GRCm39)	E43*	probably null	Het
Klhdc7b	A	T	15: 89,271,523 (GRCm39)	R802W	probably damaging	Het
Krt8	T	C	15: 101,912,374 (GRCm39)	I101V	probably damaging	Het
Lrrc7	A	G	3: 157,876,380 (GRCm39)	L570P	probably damaging	Het
Map4k1	C	G	7: 28,693,646 (GRCm39)	N412K	probably benign	Het
Metrnl	A	T	11: 121,605,564 (GRCm39)	I118F	possibly damaging	Het
Mmp12	T	A	9: 7,350,106 (GRCm39)	D202E	probably damaging	Het
Mpp2	A	T	11: 101,955,269 (GRCm39)	S119T	probably benign	Het
Ncoa6	T	C	2: 155,248,688 (GRCm39)	T1539A	probably benign	Het
Nlrc5	A	G	8: 95,206,154 (GRCm39)	T715A	possibly damaging	Het
Nsd1	T	A	13: 55,454,792 (GRCm39)	N1963K	probably damaging	Het
Nsd3	T	C	8: 26,149,834 (GRCm39)	Y340H	probably damaging	Het
Nwd1	T	A	8: 73,419,745 (GRCm39)	S977T	probably damaging	Het
Or5d39	T	A	2: 87,979,961 (GRCm39)	Y134F	probably damaging	Het
Or7d10	G	T	9: 19,832,337 (GRCm39)	M277I	probably benign	Het
Pcdh8	T	C	14: 80,008,197 (GRCm39)	E122G	probably damaging	Het
Pcmtd2	A	C	2: 181,496,991 (GRCm39)	T323P	probably benign	Het
Pign	C	A	1: 105,519,447 (GRCm39)	G492C	probably damaging	Het
Plppr3	A	G	10: 79,702,337 (GRCm39)	V245A	possibly damaging	Het
Prl7a2	C	T	13: 27,844,983 (GRCm39)	W134*	probably null	Het
Prom1	A	T	5: 44,164,389 (GRCm39)	N722K	probably benign	Het
Rasal2	A	T	1: 156,988,860 (GRCm39)	N663K	probably damaging	Het
Rgl1	G	T	1: 152,428,172 (GRCm39)	H315Q	probably benign	Het
Spdye4b	G	A	5: 143,188,142 (GRCm39)	D212N	probably damaging	Het
Tafa3	T	A	3: 104,679,505 (GRCm39)	K126N	probably damaging	Het
Tanc1	G	T	2: 59,529,691 (GRCm39)		probably null	Het
Trio	A	G	15: 27,856,250 (GRCm39)	V706A	probably benign	Het
Tshz1	T	A	18: 84,033,805 (GRCm39)	Q201L	probably damaging	Het
Ubqln1	C	T	13: 58,331,131 (GRCm39)	M365I	probably benign	Het
Usp42	A	T	5: 143,705,331 (GRCm39)	Y383N	probably damaging	Het
Vmn1r189	A	G	13: 22,286,552 (GRCm39)	I95T	probably damaging	Het
Vmn2r49	A	T	7: 9,710,274 (GRCm39)	S819R	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
R5781:Smpdl3a	UTSW	10	57,684,034 (GRCm39)	missense	possibly damaging	0.78
R5917:Smpdl3a	UTSW	10	57,681,654 (GRCm39)	splice site	probably null
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'- GAGAGAGCTGTGCTTAAACTCG -3'
(R):5'- ATTAGTGCACTCATGAAGACTGTC -3'

Sequencing Primer
(F):5'- TGCTTAAACTCGTGGTGTAAGGAAC -3'
(R):5'- CTCATGAAGACTGTCACACTGTAGG -3'

Posted On

2016-12-15