Mutagenetix > Incidental Mutation

Incidental Mutation 'R1451:Sppl3'

161653

Institutional Source

Beutler Lab

Gene Symbol

Sppl3

Ensembl Gene

ENSMUSG00000029550

Gene Name

signal peptide peptidase 3

Synonyms

4833416I09Rik, Usmg3

MMRRC Submission

039506-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

Stock #

R1451 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115149204-115236849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115226424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 193 (L193P)

Ref Sequence

ENSEMBL: ENSMUSP00000031530 (fasta)

Gene Model

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

AlphaFold

Q9CUS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031530
AA Change: L193P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550
AA Change: L193P

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

0.7894

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

96% (55/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	C	14: 32,098,588 (GRCm39)	E83G	possibly damaging	Het
Abca9	A	G	11: 110,018,273 (GRCm39)	S1116P	probably damaging	Het
Abcc12	T	A	8: 87,284,322 (GRCm39)	T296S	probably damaging	Het
Adarb2	A	G	13: 8,389,657 (GRCm39)		probably benign	Het
Arhgef12	C	T	9: 42,903,874 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,807,049 (GRCm39)		probably null	Het
C1ra	A	T	6: 124,498,600 (GRCm39)	Q431L	probably benign	Het
C1s2	A	T	6: 124,602,453 (GRCm39)	I580N	probably benign	Het
Cacna2d4	C	T	6: 119,213,785 (GRCm39)	T68I	probably benign	Het
Car8	A	T	4: 8,189,327 (GRCm39)	H162Q	probably benign	Het
Ccdc106	A	G	7: 5,062,527 (GRCm39)	R116G	probably damaging	Het
Ccdc136	T	A	6: 29,419,376 (GRCm39)	N965K	probably benign	Het
Cd200r3	A	G	16: 44,771,910 (GRCm39)	E58G	possibly damaging	Het
Cnksr3	T	A	10: 7,076,830 (GRCm39)	S121C	probably null	Het
Cog6	T	C	3: 52,916,534 (GRCm39)	M212V	possibly damaging	Het
Ebna1bp2	C	A	4: 118,478,269 (GRCm39)		probably null	Het
Epha1	C	A	6: 42,338,385 (GRCm39)	M730I	probably damaging	Het
Fcgbpl1	T	C	7: 27,836,582 (GRCm39)	F167S	probably damaging	Het
Fscn2	A	T	11: 120,252,848 (GRCm39)	E105V	probably damaging	Het
Gars1	T	C	6: 55,030,108 (GRCm39)		probably benign	Het
Itgb4	G	T	11: 115,881,710 (GRCm39)	G753V	probably damaging	Het
Kif23	C	T	9: 61,832,084 (GRCm39)	V634M	probably damaging	Het
Krt8	T	C	15: 101,907,264 (GRCm39)	Y273C	possibly damaging	Het
Lgmn	A	G	12: 102,372,151 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,845,926 (GRCm39)	I785T	possibly damaging	Het
Lrriq1	A	G	10: 103,038,376 (GRCm39)		probably benign	Het
Lta4h	A	G	10: 93,316,590 (GRCm39)	D491G	probably damaging	Het
Megf10	A	T	18: 57,385,931 (GRCm39)	S315C	probably damaging	Het
Mphosph8	C	T	14: 56,905,878 (GRCm39)	R24C	possibly damaging	Het
Neurog2	A	G	3: 127,427,490 (GRCm39)	D38G	possibly damaging	Het
Or1j11	G	T	2: 36,311,877 (GRCm39)	A156S	probably benign	Het
Or2w2	A	T	13: 21,758,457 (GRCm39)	Y56*	probably null	Het
Or2z2	C	T	11: 58,346,358 (GRCm39)	R139H	probably benign	Het
Or6b3	T	A	1: 92,439,517 (GRCm39)	I78F	possibly damaging	Het
Or8b50	A	T	9: 38,518,234 (GRCm39)	I158F	probably benign	Het
Or8g50	T	A	9: 39,648,612 (GRCm39)	V167D	probably benign	Het
Pcdhb17	A	T	18: 37,619,989 (GRCm39)	D593V	probably damaging	Het
Pde2a	G	T	7: 101,071,198 (GRCm39)	E23*	probably null	Het
Prex2	G	A	1: 11,226,483 (GRCm39)	V749I	probably benign	Het
Ptchd4	A	G	17: 42,813,809 (GRCm39)	Y570C	probably damaging	Het
Robo3	C	T	9: 37,329,007 (GRCm39)	R1237K	probably benign	Het
Slc6a1	C	A	6: 114,284,756 (GRCm39)	Y87*	probably null	Het
Snx13	G	A	12: 35,128,983 (GRCm39)	A34T	probably benign	Het
Tia1	A	T	6: 86,407,321 (GRCm39)	Y277F	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trappc2l	T	C	8: 123,342,134 (GRCm39)	F127L	probably damaging	Het
Ushbp1	G	T	8: 71,838,663 (GRCm39)	Q588K	possibly damaging	Het
Usp43	T	A	11: 67,747,007 (GRCm39)	H895L	probably benign	Het
Vmn1r179	T	A	7: 23,628,275 (GRCm39)	C155*	probably null	Het
Vmn2r8	T	A	5: 108,945,933 (GRCm39)	D558V	probably damaging	Het
Vps13a	T	C	19: 16,688,228 (GRCm39)	T860A	probably benign	Het
Vps50	A	G	6: 3,565,628 (GRCm39)	N522S	possibly damaging	Het
Zfp180	T	C	7: 23,804,643 (GRCm39)	F354S	probably benign	Het
Zgpat	A	G	2: 181,021,984 (GRCm39)		probably benign	Het

Other mutations in Sppl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Sppl3	APN	5	115,212,935 (GRCm39)	missense	probably benign
IGL02302:Sppl3	APN	5	115,220,390 (GRCm39)	missense	probably benign	0.43
IGL02381:Sppl3	APN	5	115,212,969 (GRCm39)	splice site	probably null
IGL02592:Sppl3	APN	5	115,233,970 (GRCm39)	missense	probably damaging	1.00
IGL02963:Sppl3	APN	5	115,199,662 (GRCm39)	missense	probably damaging	1.00
R0119:Sppl3	UTSW	5	115,227,053 (GRCm39)	unclassified	probably benign
R0299:Sppl3	UTSW	5	115,227,053 (GRCm39)	unclassified	probably benign
R0827:Sppl3	UTSW	5	115,220,392 (GRCm39)	nonsense	probably null
R1141:Sppl3	UTSW	5	115,226,352 (GRCm39)	frame shift	probably null
R1321:Sppl3	UTSW	5	115,226,352 (GRCm39)	frame shift	probably null
R1322:Sppl3	UTSW	5	115,226,352 (GRCm39)	frame shift	probably null
R3110:Sppl3	UTSW	5	115,212,923 (GRCm39)	missense	possibly damaging	0.78
R3112:Sppl3	UTSW	5	115,212,923 (GRCm39)	missense	possibly damaging	0.78
R4701:Sppl3	UTSW	5	115,241,372 (GRCm39)	splice site	probably null
R4808:Sppl3	UTSW	5	115,221,485 (GRCm39)	splice site	probably benign
R4931:Sppl3	UTSW	5	115,220,373 (GRCm39)	missense	probably damaging	1.00
R6513:Sppl3	UTSW	5	115,233,995 (GRCm39)	missense	probably damaging	1.00
R6993:Sppl3	UTSW	5	115,220,349 (GRCm39)	missense	probably damaging	0.99
R7326:Sppl3	UTSW	5	115,220,394 (GRCm39)	missense	probably damaging	0.99
R7384:Sppl3	UTSW	5	115,199,700 (GRCm39)	critical splice donor site	probably null
R9012:Sppl3	UTSW	5	115,226,987 (GRCm39)	missense	probably benign	0.38
R9257:Sppl3	UTSW	5	115,221,532 (GRCm39)	missense	probably benign	0.41
R9258:Sppl3	UTSW	5	115,233,922 (GRCm39)	missense	probably damaging	1.00
R9306:Sppl3	UTSW	5	115,212,922 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAATGCTGTGACCTACCTCACACC -3'
(R):5'- GCCAGGATGCCCATACATGACTAAG -3'

Sequencing Primer
(F):5'- TGGGCTGCCCAGTAGAAAC -3'
(R):5'- TGCCCATACATGACTAAGACCTG -3'

Posted On

2014-03-14