Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02963:Sppl3'

365421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sppl3

Ensembl Gene

ENSMUSG00000029550

Gene Name

signal peptide peptidase 3

Synonyms

4833416I09Rik, Usmg3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

Stock #

IGL02963

Quality Score

Status

Chromosome

Chromosomal Location

115149204-115236849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115199662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 22 (L22Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143889 (fasta)

Gene Model

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

AlphaFold

Q9CUS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031530
AA Change: L22Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550
AA Change: L22Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128590
AA Change: L22Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150708

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,603,503 (GRCm39)	L565Q	probably damaging	Het
Ap1b1	G	T	11: 4,983,738 (GRCm39)	A664S	possibly damaging	Het
Arhgap44	A	T	11: 64,922,489 (GRCm39)	I348N	probably damaging	Het
Bahcc1	T	C	11: 120,165,758 (GRCm39)	S1005P	possibly damaging	Het
Ccn1	A	G	3: 145,353,630 (GRCm39)	Y311H	probably damaging	Het
Cdh20	T	A	1: 104,861,823 (GRCm39)	M1K	probably null	Het
Cfhr4	G	A	1: 139,659,334 (GRCm39)	Q732*	probably null	Het
Cpsf3	T	C	12: 21,352,423 (GRCm39)	S387P	probably damaging	Het
Cyp2j6	T	C	4: 96,406,421 (GRCm39)	E450G	probably damaging	Het
Dusp13b	T	C	14: 21,783,875 (GRCm39)	T147A	possibly damaging	Het
Eif3c	T	C	7: 126,155,992 (GRCm39)	T493A	probably benign	Het
Ell2	T	C	13: 75,917,762 (GRCm39)	V564A	possibly damaging	Het
Gtf2ird1	T	G	5: 134,418,541 (GRCm39)	E478D	probably benign	Het
Gys2	A	T	6: 142,395,154 (GRCm39)		probably null	Het
H2-T3	T	C	17: 36,500,526 (GRCm39)	T104A	probably damaging	Het
Herc1	T	C	9: 66,296,105 (GRCm39)	S567P	probably damaging	Het
Kcnq3	A	T	15: 66,157,675 (GRCm39)		probably benign	Het
Kdm7a	T	C	6: 39,120,164 (GRCm39)	H935R	probably damaging	Het
Lcat	A	T	8: 106,666,588 (GRCm39)	F311L	probably damaging	Het
Manf	A	G	9: 106,768,338 (GRCm39)	S49P	possibly damaging	Het
Med25	T	C	7: 44,541,680 (GRCm39)	K37E	probably damaging	Het
Ms4a4b	T	A	19: 11,432,062 (GRCm39)	I61K	probably damaging	Het
Muc5b	T	C	7: 141,418,001 (GRCm39)	I3649T	probably damaging	Het
Myo18a	T	G	11: 77,732,844 (GRCm39)		probably benign	Het
Ncoa4	T	C	14: 31,898,466 (GRCm39)	C429R	probably damaging	Het
Or14j2	A	G	17: 37,885,745 (GRCm39)	S190P	probably benign	Het
Pigk	G	T	3: 152,472,098 (GRCm39)	E337*	probably null	Het
Pigz	A	T	16: 31,763,353 (GRCm39)	Y137F	probably damaging	Het
Ppp1r12b	A	G	1: 134,814,286 (GRCm39)	L339P	probably damaging	Het
Rasa2	C	A	9: 96,452,838 (GRCm39)	L349F	probably damaging	Het
Reep4	A	G	14: 70,785,410 (GRCm39)	S186G	possibly damaging	Het
Rfx7	A	G	9: 72,524,898 (GRCm39)	K696R	probably benign	Het
Rnf220	A	G	4: 117,347,389 (GRCm39)	F8L	probably damaging	Het
Rprm	T	C	2: 53,975,226 (GRCm39)	T31A	probably benign	Het
Sez6	T	A	11: 77,853,775 (GRCm39)	L148Q	possibly damaging	Het
Sh2d6	C	T	6: 72,494,584 (GRCm39)	V96I	probably benign	Het
Slc16a9	G	T	10: 70,102,966 (GRCm39)	V81F	probably damaging	Het
Slc9a9	T	A	9: 94,902,767 (GRCm39)		probably null	Het
Ssc5d	T	C	7: 4,947,326 (GRCm39)	S1227P	probably benign	Het
Tbc1d1	T	A	5: 64,421,709 (GRCm39)	V238E	probably damaging	Het
Tmco6	G	A	18: 36,871,798 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,133,205 (GRCm39)	V287A	probably benign	Het
Uvrag	A	T	7: 98,555,697 (GRCm39)		probably null	Het
Vmn1r167	A	G	7: 23,204,975 (GRCm39)	S14P	possibly damaging	Het
Vmn1r171	A	G	7: 23,332,113 (GRCm39)	T113A	possibly damaging	Het
Wnk4	A	G	11: 101,167,039 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,454,512 (GRCm39)	T1431A	unknown	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
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
R1451:Sppl3	UTSW	5	115,226,424 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-12-18