Mutagenetix > Incidental Mutation

Incidental Mutation 'R6044:Smpdl3a'

483723

Institutional Source

Beutler Lab

Gene Symbol

Smpdl3a

Ensembl Gene

ENSMUSG00000019872

Gene Name

sphingomyelin phosphodiesterase, acid-like 3A

Synonyms

ASM3A, 0610010C24Rik, ASML3A

MMRRC Submission

044212-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6044 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57670640-57687926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57687358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 362 (E362G)

Ref Sequence

ENSEMBL: ENSMUSP00000020022 (fasta)

Gene Model

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

AlphaFold

P70158

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020022
AA Change: E362G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020022
Gene: ENSMUSG00000019872
AA Change: E362G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Adamts20	A	T	15: 94,180,364 (GRCm39)	Y1764N	probably damaging	Het
Adamtsl1	A	T	4: 86,130,928 (GRCm39)	D223V	probably damaging	Het
Agbl1	T	C	7: 75,967,868 (GRCm39)	V31A	possibly damaging	Het
Alk	T	C	17: 72,299,095 (GRCm39)	H462R	probably benign	Het
Amt	A	T	9: 108,174,450 (GRCm39)	T72S	probably damaging	Het
Atp12a	T	A	14: 56,613,612 (GRCm39)	D461E	probably damaging	Het
Bcan	C	A	3: 87,902,950 (GRCm39)	C276F	probably damaging	Het
Crispld2	T	C	8: 120,737,410 (GRCm39)	S54P	possibly damaging	Het
Cyp11a1	A	T	9: 57,933,987 (GRCm39)	N478I	probably damaging	Het
Des	A	T	1: 75,340,113 (GRCm39)		probably null	Het
Dnajc6	A	T	4: 101,473,774 (GRCm39)	I427F	probably benign	Het
Eml4	T	G	17: 83,753,379 (GRCm39)	L281R	probably damaging	Het
Fam186a	T	C	15: 99,839,878 (GRCm39)	Y2122C	probably damaging	Het
Fndc11	T	A	2: 180,863,459 (GRCm39)	L88Q	probably damaging	Het
Foxo1	A	G	3: 52,253,258 (GRCm39)	M474V	probably benign	Het
Gap43	A	T	16: 42,112,550 (GRCm39)	D70E	probably benign	Het
Gemin4	T	C	11: 76,103,760 (GRCm39)	M334V	probably benign	Het
Gm973	T	C	1: 59,667,393 (GRCm39)	L718P	probably benign	Het
Gprin3	G	T	6: 59,330,657 (GRCm39)	T550N	possibly damaging	Het
Hddc3	T	A	7: 79,993,332 (GRCm39)	V53E	probably benign	Het
Itpr2	A	T	6: 146,298,449 (GRCm39)	D12E	probably null	Het
Klri2	T	A	6: 129,717,247 (GRCm39)	E45D	probably damaging	Het
Lct	A	G	1: 128,235,717 (GRCm39)	V430A	possibly damaging	Het
Mcm8	T	C	2: 132,673,600 (GRCm39)		probably null	Het
Mmp12	A	G	9: 7,350,050 (GRCm39)	T184A	possibly damaging	Het
Morc3	T	C	16: 93,663,330 (GRCm39)	V511A	probably benign	Het
Mta2	T	C	19: 8,925,695 (GRCm39)	Y397H	probably damaging	Het
Naa50	G	A	16: 43,979,890 (GRCm39)	E93K	possibly damaging	Het
Or14j2	G	A	17: 37,885,426 (GRCm39)	T296M	probably damaging	Het
Or2t26	T	C	11: 49,039,522 (GRCm39)	V146A	probably benign	Het
Or4a77	T	A	2: 89,487,516 (GRCm39)	I90F	probably damaging	Het
Or4c126	T	C	2: 89,823,761 (GRCm39)	I8T	possibly damaging	Het
Or4k40	T	C	2: 111,250,423 (GRCm39)	N291S	probably damaging	Het
Padi4	A	G	4: 140,475,438 (GRCm39)	S576P	possibly damaging	Het
Poglut2	A	T	1: 44,153,611 (GRCm39)	L221*	probably null	Het
Prss47	A	T	13: 65,197,120 (GRCm39)	Y111*	probably null	Het
Ptprm	A	G	17: 67,000,857 (GRCm39)	V1100A	probably damaging	Het
Rab11fip3	G	A	17: 26,286,843 (GRCm39)	P437S	possibly damaging	Het
Rsph14	C	T	10: 74,867,102 (GRCm39)	D15N	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco1a1	A	G	6: 141,885,743 (GRCm39)	V94A	probably benign	Het
Sva	A	T	6: 42,017,034 (GRCm39)	Y47F	probably benign	Het
Tatdn3	A	G	1: 190,788,558 (GRCm39)		probably null	Het
Tlcd4	A	T	3: 121,001,018 (GRCm39)	I205K	probably damaging	Het
Tlcd5	A	G	9: 43,024,903 (GRCm39)	S18P	probably benign	Het
Tmem131	G	A	1: 36,920,422 (GRCm39)	Q93*	probably null	Het
Trpm7	T	C	2: 126,656,665 (GRCm39)	E1184G	probably damaging	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Usp40	A	T	1: 87,917,872 (GRCm39)	I325K	probably benign	Het
Vmn2r27	T	G	6: 124,208,731 (GRCm39)	I5L	probably benign	Het
Wee1	C	T	7: 109,738,513 (GRCm39)	T542I	probably benign	Het
Wrn	G	A	8: 33,726,457 (GRCm39)	P1129S	probably damaging	Het
Zfyve16	G	A	13: 92,659,174 (GRCm39)	Q246*	probably null	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
R5917:Smpdl3a	UTSW	10	57,681,654 (GRCm39)	splice site	probably null
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'- CCTGTGGGAATTCAAGATGCTTTG -3'
(R):5'- CACAAGTTGCACTGCTGTC -3'

Sequencing Primer
(F):5'- ACATCTCACTGTATATAGGGATGATG -3'
(R):5'- CAAGTTGCACTGCTGTCATAAC -3'

Posted On

2017-07-14