Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00814:Sppl2c'

277982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sppl2c

Ensembl Gene

ENSMUSG00000049506

Gene Name

signal peptide peptidase 2C

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

IGL00814

Quality Score

Status

Chromosome

Chromosomal Location

104186327-104191163 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104186979 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 202 (G202S)

Ref Sequence

ENSEMBL: ENSMUSP00000102613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059448] [ENSMUST00000107000]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059448
AA Change: G202S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091453
Gene: ENSMUSG00000049506
AA Change: G202S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:PA	62	169	1.8e-8	PFAM
transmembrane domain	191	213	N/A	INTRINSIC
low complexity region	220	237	N/A	INTRINSIC
PSN	256	528	1.08e-95	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107000
AA Change: G202S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102613
Gene: ENSMUSG00000049506
AA Change: G202S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:PA	62	169	2.3e-8	PFAM
transmembrane domain	191	213	N/A	INTRINSIC
low complexity region	220	237	N/A	INTRINSIC
PSN	256	528	1.08e-95	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cops6	G	T	5: 138,163,378	R58L	probably damaging	Het
Elmo1	T	A	13: 20,286,724	M262K	probably damaging	Het
Faim	G	A	9: 98,992,165	G15R	probably damaging	Het
Gria4	A	T	9: 4,472,202	M429K	probably damaging	Het
Hipk2	G	A	6: 38,818,549	R262W	probably damaging	Het
Kif23	A	T	9: 61,937,107	I143K	possibly damaging	Het
Mbtd1	T	A	11: 93,943,840	S615T	possibly damaging	Het
Nlrp9c	C	T	7: 26,384,750	S468N	probably benign	Het
Nt5c2	A	T	19: 46,897,648	D212E	probably benign	Het
Olfr596	A	T	7: 103,309,807	I29L	probably benign	Het
Pck2	T	C	14: 55,548,299		probably benign	Het
Pdcd6ip	T	C	9: 113,687,653	Q230R	probably damaging	Het
Pomk	T	C	8: 25,983,596	T110A	probably benign	Het
Psg23	C	T	7: 18,614,683	W66*	probably null	Het
Rnf144b	T	C	13: 47,220,488		probably benign	Het
Thnsl2	A	C	6: 71,139,883	L95R	probably damaging	Het
Ttn	A	G	2: 76,807,167	V12248A	probably benign	Het

Other mutations in Sppl2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02326:Sppl2c	APN	11	104187273	missense	probably benign	0.27
IGL02479:Sppl2c	APN	11	104186937	missense	probably benign
H8786:Sppl2c	UTSW	11	104186865	missense	probably benign	0.04
R0083:Sppl2c	UTSW	11	104186532	missense	probably benign	0.00
R1625:Sppl2c	UTSW	11	104187169	missense	probably damaging	0.98
R1913:Sppl2c	UTSW	11	104187889	missense	probably benign	0.15
R2037:Sppl2c	UTSW	11	104186481	missense	probably benign	0.23
R2869:Sppl2c	UTSW	11	104187315	missense	probably benign	0.21
R2869:Sppl2c	UTSW	11	104187315	missense	probably benign	0.21
R2871:Sppl2c	UTSW	11	104187315	missense	probably benign	0.21
R2871:Sppl2c	UTSW	11	104187315	missense	probably benign	0.21
R2873:Sppl2c	UTSW	11	104187315	missense	probably benign	0.21
R3009:Sppl2c	UTSW	11	104187315	missense	probably benign	0.21
R3010:Sppl2c	UTSW	11	104187315	missense	probably benign	0.21
R3011:Sppl2c	UTSW	11	104187315	missense	probably benign	0.21
R4698:Sppl2c	UTSW	11	104188315	missense	probably benign	0.21
R4718:Sppl2c	UTSW	11	104188315	missense	probably benign	0.21
R4841:Sppl2c	UTSW	11	104187652	missense	probably benign	0.06
R4842:Sppl2c	UTSW	11	104187652	missense	probably benign	0.06
R5248:Sppl2c	UTSW	11	104186581	missense	possibly damaging	0.88
R5288:Sppl2c	UTSW	11	104187301	missense	possibly damaging	0.68
R5300:Sppl2c	UTSW	11	104187075	missense	possibly damaging	0.52
R5384:Sppl2c	UTSW	11	104187301	missense	possibly damaging	0.68
R5386:Sppl2c	UTSW	11	104187301	missense	possibly damaging	0.68
R5427:Sppl2c	UTSW	11	104187867	missense	probably benign	0.01
R5452:Sppl2c	UTSW	11	104187300	missense	probably benign
R5796:Sppl2c	UTSW	11	104187793	missense	probably benign	0.00
R6112:Sppl2c	UTSW	11	104187137	missense	probably benign	0.00
R6452:Sppl2c	UTSW	11	104188191	missense	probably benign	0.01
R6476:Sppl2c	UTSW	11	104186769	missense	probably benign
R7368:Sppl2c	UTSW	11	104187604	missense	probably damaging	0.99
R7896:Sppl2c	UTSW	11	104187130	missense	possibly damaging	0.94
R7954:Sppl2c	UTSW	11	104188516	utr 3 prime	probably null
R7979:Sppl2c	UTSW	11	104187130	missense	possibly damaging	0.94

Posted On

2015-04-16