Mutagenetix > Incidental Mutation

Incidental Mutation 'R0119:Sppl3'

20969

Institutional Source

Beutler Lab

Gene Symbol

Sppl3

Ensembl Gene

ENSMUSG00000029550

Gene Name

signal peptide peptidase 3

Synonyms

Usmg3, 4833416I09Rik

MMRRC Submission

038405-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

R0119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115011137-115098790 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 115088994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031530] [ENSMUST00000128590]

AlphaFold

Q9CUS9

Predicted Effect

probably benign
Transcript: ENSMUST00000031530

SMART Domains

Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
PSN	64	361	1.96e-102	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128590

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap insertion exhibit growth retardation, decreased fertility and behavioral abnormalities. [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
4930503L19Rik	G	A	18: 70,469,482	Q87*	probably null	Het
Abca13	G	A	11: 9,298,076	E2608K	probably benign	Het
Acad9	T	C	3: 36,085,415	V388A	probably damaging	Het
Acpp	T	C	9: 104,320,002	E146G	probably damaging	Het
Adamts18	A	G	8: 113,774,953	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,716,166	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,723,615		probably benign	Het
Arg2	A	G	12: 79,147,612	D70G	probably damaging	Het
Cap1	A	T	4: 122,867,699	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,082,020	N253I	probably damaging	Het
Caskin2	A	G	11: 115,802,427		probably benign	Het
Cd69	C	T	6: 129,270,062	S64N	probably benign	Het
Cd96	T	C	16: 46,038,579		probably benign	Het
Celf6	C	A	9: 59,602,878	T86K	probably benign	Het
Ces1c	A	T	8: 93,106,717		probably benign	Het
Ces1c	A	T	8: 93,107,610	L351M	probably benign	Het
Cnih3	T	A	1: 181,454,744		probably benign	Het
Col15a1	A	T	4: 47,262,950	D534V	probably damaging	Het
Cry1	A	G	10: 85,133,240		probably null	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Defb13	T	C	8: 21,946,861		probably benign	Het
Dnah1	C	T	14: 31,276,158	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,715,509	F1489L	possibly damaging	Het
Elmo3	T	C	8: 105,309,768	L668S	probably damaging	Het
Elp2	T	C	18: 24,634,409	I716T	probably benign	Het
Fshr	C	G	17: 89,009,285	S169T	probably benign	Het
Gm6327	T	C	16: 12,761,197		noncoding transcript	Het
Gm839	A	T	6: 89,212,380		noncoding transcript	Het
Gng5	T	A	3: 146,503,293	C39S	probably damaging	Het
Gpr55	C	T	1: 85,941,424	W145*	probably null	Het
Hdlbp	A	C	1: 93,421,337		probably benign	Het
Man2a2	G	T	7: 80,367,405	N305K	probably damaging	Het
Me2	A	G	18: 73,770,673	S575P	probably benign	Het
Mier3	T	C	13: 111,715,038	V490A	probably damaging	Het
Mpdz	T	C	4: 81,292,531	T1693A	probably benign	Het
Mss51	T	A	14: 20,484,688	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,750,195		probably benign	Het
Mug2	T	A	6: 122,036,063	H311Q	probably benign	Het
Neto1	G	A	18: 86,461,320	R211Q	probably benign	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nisch	A	G	14: 31,171,924	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,626,327		probably null	Het
Olfr394	C	T	11: 73,887,830	V181I	probably benign	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pcdh15	T	C	10: 74,170,575	F95S	probably damaging	Het
Pcsk6	T	C	7: 66,039,043	V820A	probably benign	Het
Pde5a	A	G	3: 122,748,458	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,068,852	V496E	probably benign	Het
Per3	A	G	4: 151,024,548		probably benign	Het
Pip4k2b	A	T	11: 97,722,936		probably benign	Het
Podn	G	T	4: 108,021,594	L359I	probably damaging	Het
Rad21	A	T	15: 51,965,030	D547E	probably benign	Het
Rere	T	G	4: 150,615,322		probably benign	Het
Serpina1d	A	T	12: 103,765,757	L281Q	probably damaging	Het
Serpina9	T	C	12: 104,001,470	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,577,559	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 134,128,036	I33N	probably damaging	Het
Sik3	T	C	9: 46,208,740	M659T	possibly damaging	Het
Tacc2	C	A	7: 130,621,875	Q116K	probably damaging	Het
Tecta	T	C	9: 42,352,063	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,922	V477A	possibly damaging	Het
Trim7	G	T	11: 48,849,712	R212L	probably damaging	Het
Trpm6	T	A	19: 18,832,593	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,215,719	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,448,157	E361G	probably benign	Het
Zzef1	T	C	11: 72,821,851	V199A	probably benign	Het

Other mutations in Sppl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Sppl3	APN	5	115074876	missense	probably benign
IGL02302:Sppl3	APN	5	115082331	missense	probably benign	0.43
IGL02381:Sppl3	APN	5	115074910	splice site	probably null
IGL02592:Sppl3	APN	5	115095911	missense	probably damaging	1.00
IGL02963:Sppl3	APN	5	115061603	missense	probably damaging	1.00
R0299:Sppl3	UTSW	5	115088994	unclassified	probably benign
R0827:Sppl3	UTSW	5	115082333	nonsense	probably null
R1141:Sppl3	UTSW	5	115088293	frame shift	probably null
R1321:Sppl3	UTSW	5	115088293	frame shift	probably null
R1322:Sppl3	UTSW	5	115088293	frame shift	probably null
R1451:Sppl3	UTSW	5	115088365	missense	probably damaging	1.00
R3110:Sppl3	UTSW	5	115074864	missense	possibly damaging	0.78
R3112:Sppl3	UTSW	5	115074864	missense	possibly damaging	0.78
R4701:Sppl3	UTSW	5	115103313	splice site	probably null
R4808:Sppl3	UTSW	5	115083426	splice site	probably benign
R4931:Sppl3	UTSW	5	115082314	missense	probably damaging	1.00
R6513:Sppl3	UTSW	5	115095936	missense	probably damaging	1.00
R6993:Sppl3	UTSW	5	115082290	missense	probably damaging	0.99
R7326:Sppl3	UTSW	5	115082335	missense	probably damaging	0.99
R7384:Sppl3	UTSW	5	115061641	critical splice donor site	probably null
R9012:Sppl3	UTSW	5	115088928	missense	probably benign	0.38
R9257:Sppl3	UTSW	5	115083473	missense	probably benign	0.41
R9258:Sppl3	UTSW	5	115095863	missense	probably damaging	1.00
R9306:Sppl3	UTSW	5	115074863	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATCCCGGCAGGTGTTCTTCTCAG -3'
(R):5'- TATGCCACCAGTCAGAGTAGTCCC -3'

Sequencing Primer
(F):5'- GCCTACATCTTCAACAGTAATGTC -3'
(R):5'- GGCTCACCAGAGTTAATACCTTG -3'

Posted On

2013-04-11