Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Sptlc2'

294539

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sptlc2

Ensembl Gene

ENSMUSG00000021036

Gene Name

serine palmitoyltransferase, long chain base subunit 2

Synonyms

LCB2, Spt2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

87351832-87435129 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 87356667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021424]

AlphaFold

P97363

Predicted Effect

probably benign
Transcript: ENSMUST00000021424

SMART Domains

Protein: ENSMUSP00000021424
Gene: ENSMUSG00000021036

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	166	526	7.2e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170720

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a long chain base subunit of serine palmitoyltransferase. The enzyme, serine palmitoyltransferase, consists of two different subunits, and is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. A mutant allele of this gene in mice is used as a model for the human disease 'Susceptibilty to Psoriasis 1'. Mutations in the human gene are associated with hereditary sensory neuropathy type I. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit abnormal liver and circulating shingolipid levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,206,844 (GRCm39)	I37L	probably benign	Het
Alpk1	A	G	3: 127,474,968 (GRCm39)		probably null	Het
Ankrd33	T	C	15: 101,014,488 (GRCm39)	F8L	probably damaging	Het
Avil	A	G	10: 126,852,222 (GRCm39)	K669R	probably benign	Het
Bcor	G	T	X: 11,914,749 (GRCm39)	L1165I	probably damaging	Het
C7	A	G	15: 5,088,871 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,875,896 (GRCm39)	I958V	probably benign	Het
Cenpe	A	T	3: 134,935,869 (GRCm39)	K435*	probably null	Het
Chrna7	G	A	7: 62,755,842 (GRCm39)	L235F	probably damaging	Het
Col6a3	C	A	1: 90,706,919 (GRCm39)	V2065L	unknown	Het
Copb1	A	T	7: 113,846,020 (GRCm39)	N183K	probably benign	Het
Cpn2	G	A	16: 30,079,653 (GRCm39)	A16V	probably benign	Het
Cul1	A	G	6: 47,502,542 (GRCm39)	K769E	possibly damaging	Het
Deup1	C	T	9: 15,503,656 (GRCm39)	V302M	probably benign	Het
Dnah17	T	C	11: 117,927,176 (GRCm39)	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,004,431 (GRCm39)	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,657,487 (GRCm39)	L763*	probably null	Het
Donson	A	T	16: 91,478,064 (GRCm39)	W461R	probably damaging	Het
Dpp10	T	C	1: 123,269,418 (GRCm39)	I664V	probably benign	Het
Dusp8	T	A	7: 141,636,484 (GRCm39)	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422 (GRCm39)	L56Q	probably damaging	Het
Ecd	A	T	14: 20,374,545 (GRCm39)	S532T	probably benign	Het
Frg2f1	G	A	4: 119,388,154 (GRCm39)	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,335,735 (GRCm39)		probably benign	Het
Gtf3c2	T	A	5: 31,316,867 (GRCm39)		probably null	Het
Haghl	T	C	17: 26,002,470 (GRCm39)		probably benign	Het
Hoxc8	A	T	15: 102,901,181 (GRCm39)	N208I	probably damaging	Het
Igf2	T	C	7: 142,207,785 (GRCm39)	D115G	probably benign	Het
Jag2	T	A	12: 112,879,613 (GRCm39)	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,888 (GRCm39)	H54R	probably benign	Het
Lrp2	A	G	2: 69,352,117 (GRCm39)	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660 (GRCm39)	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,360,686 (GRCm39)	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,149,292 (GRCm39)	T168I	probably benign	Het
Mtg1	C	A	7: 139,730,085 (GRCm39)	Q294K	probably benign	Het
Myh3	C	T	11: 66,987,766 (GRCm39)	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,801,150 (GRCm39)		probably benign	Het
Ogfod3	T	C	11: 121,091,749 (GRCm39)	E119G	probably benign	Het
Or10ak9	A	G	4: 118,726,497 (GRCm39)	N173S	possibly damaging	Het
Or2t49	A	T	11: 58,393,073 (GRCm39)	M109K	probably benign	Het
Or4a77	A	G	2: 89,487,692 (GRCm39)	L31P	probably damaging	Het
Or5ak20	G	A	2: 85,184,006 (GRCm39)	T88I	probably benign	Het
Or6c210	A	T	10: 129,496,475 (GRCm39)	I267F	probably benign	Het
Parvb	G	T	15: 84,187,635 (GRCm39)	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 119,310,315 (GRCm39)	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,137,572 (GRCm39)	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,342,171 (GRCm39)	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,467,443 (GRCm39)	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,250,351 (GRCm39)	C131*	probably null	Het
Rigi	A	G	4: 40,229,536 (GRCm39)	S83P	probably damaging	Het
Rps6ka2	A	G	17: 7,556,402 (GRCm39)	D474G	probably benign	Het
Rsbn1l	T	C	5: 21,156,734 (GRCm39)	E17G	probably damaging	Het
Ryr2	T	C	13: 11,720,585 (GRCm39)	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,046,574 (GRCm39)		probably benign	Het
Smarcc1	A	G	9: 109,961,194 (GRCm39)		probably benign	Het
Soat2	T	C	15: 102,070,550 (GRCm39)	V451A	probably damaging	Het
Tada1	C	T	1: 166,220,203 (GRCm39)	L308F	probably damaging	Het
Tango2	A	T	16: 18,128,731 (GRCm39)		probably null	Het
Tbc1d15	A	T	10: 115,065,111 (GRCm39)	V158D	probably damaging	Het
Tmx2	A	T	2: 84,503,588 (GRCm39)		probably benign	Het
Tpte	T	A	8: 22,795,874 (GRCm39)	I79K	probably benign	Het
Trav6-1	A	G	14: 52,876,199 (GRCm39)	I40V	probably benign	Het
Trgv3	A	G	13: 19,427,423 (GRCm39)	Y102C	probably damaging	Het
Ubash3a	T	C	17: 31,450,455 (GRCm39)	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,600,446 (GRCm39)	D575G	probably damaging	Het
Vps41	A	G	13: 19,037,649 (GRCm39)	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,638,259 (GRCm39)	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,317,264 (GRCm39)	V112A	probably damaging	Het

Other mutations in Sptlc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Sptlc2	APN	12	87,415,842 (GRCm39)	missense	probably damaging	0.99
IGL02734:Sptlc2	APN	12	87,402,444 (GRCm39)	missense	probably damaging	0.97
IGL03252:Sptlc2	APN	12	87,402,431 (GRCm39)	missense	probably benign	0.00
lopsided	UTSW	12	87,388,339 (GRCm39)	missense	probably benign	0.27
shinola	UTSW	12	87,397,069 (GRCm39)	missense	possibly damaging	0.64
R0087:Sptlc2	UTSW	12	87,415,892 (GRCm39)	missense	probably benign
R0116:Sptlc2	UTSW	12	87,403,454 (GRCm39)	missense	probably benign	0.00
R0492:Sptlc2	UTSW	12	87,393,580 (GRCm39)	splice site	probably null
R1353:Sptlc2	UTSW	12	87,388,520 (GRCm39)	missense	probably damaging	1.00
R1470:Sptlc2	UTSW	12	87,402,414 (GRCm39)	missense	probably benign	0.00
R1470:Sptlc2	UTSW	12	87,402,414 (GRCm39)	missense	probably benign	0.00
R3417:Sptlc2	UTSW	12	87,393,582 (GRCm39)	splice site	probably benign
R3735:Sptlc2	UTSW	12	87,388,339 (GRCm39)	missense	probably benign	0.27
R3736:Sptlc2	UTSW	12	87,388,339 (GRCm39)	missense	probably benign	0.27
R4278:Sptlc2	UTSW	12	87,382,925 (GRCm39)	missense	probably benign	0.04
R5252:Sptlc2	UTSW	12	87,382,829 (GRCm39)	missense	possibly damaging	0.49
R5593:Sptlc2	UTSW	12	87,415,857 (GRCm39)	missense	probably benign	0.11
R5656:Sptlc2	UTSW	12	87,393,535 (GRCm39)	missense	probably damaging	1.00
R5801:Sptlc2	UTSW	12	87,388,545 (GRCm39)	splice site	probably null
R6256:Sptlc2	UTSW	12	87,402,305 (GRCm39)	missense	probably damaging	1.00
R6280:Sptlc2	UTSW	12	87,434,905 (GRCm39)	missense	probably benign
R6520:Sptlc2	UTSW	12	87,402,436 (GRCm39)	missense	probably benign
R6808:Sptlc2	UTSW	12	87,397,069 (GRCm39)	missense	possibly damaging	0.64
R7133:Sptlc2	UTSW	12	87,397,151 (GRCm39)	missense	probably benign	0.00
R7274:Sptlc2	UTSW	12	87,388,380 (GRCm39)	missense	probably benign	0.24
R7366:Sptlc2	UTSW	12	87,360,823 (GRCm39)	critical splice donor site	probably null
R7602:Sptlc2	UTSW	12	87,388,463 (GRCm39)	missense	probably damaging	0.99
R9085:Sptlc2	UTSW	12	87,382,839 (GRCm39)	missense	probably benign	0.00
R9710:Sptlc2	UTSW	12	87,359,533 (GRCm39)	missense	probably benign	0.44
Z1177:Sptlc2	UTSW	12	87,415,818 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16