Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02326:Sppl2c'

288474

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: 0.076) question?

Stock #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

104186327-104191163 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104187273 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 300 (T300A)

Ref Sequence

ENSEMBL: ENSMUSP00000102613 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000059448
AA Change: T300A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091453
Gene: ENSMUSG00000049506
AA Change: T300A

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

probably benign
Transcript: ENSMUST00000107000
AA Change: T300A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102613
Gene: ENSMUSG00000049506
AA Change: T300A

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,671,402	V29A	unknown	Het
Abcc8	C	A	7: 46,122,857		probably null	Het
Ankar	A	T	1: 72,666,355	I614N	probably damaging	Het
Ash1l	G	A	3: 88,966,057	R49H	probably benign	Het
Atp8b1	T	C	18: 64,538,583	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,151,473	I861T	possibly damaging	Het
Cdh20	T	C	1: 104,975,039	L485P	probably damaging	Het
Cobl	A	T	11: 12,386,712	N25K	possibly damaging	Het
Col14a1	T	C	15: 55,418,797	V818A	unknown	Het
Csmd3	G	A	15: 47,755,963		probably benign	Het
Dpp6	A	G	5: 27,664,757	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,898,746	R96C	probably damaging	Het
Fam53a	T	C	5: 33,600,594	D395G	probably damaging	Het
Gabrb1	T	A	5: 71,700,847	I72K	probably damaging	Het
Hmcn2	G	A	2: 31,450,952	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,323,745	T430I	unknown	Het
Ighv1-53	T	A	12: 115,158,615	T47S	probably benign	Het
Ilk	C	A	7: 105,741,633	P261Q	probably damaging	Het
Ints10	T	G	8: 68,804,833	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,402,592	S782R	probably benign	Het
Map3k4	A	G	17: 12,249,010	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113	P374S	probably benign	Het
Olfr1106	G	A	2: 87,049,011	S75L	possibly damaging	Het
Olfr1152	T	A	2: 87,868,675	I228N	probably damaging	Het
Olfr1462	C	A	19: 13,191,415	Y249*	probably null	Het
Olfr670	T	A	7: 104,960,646	I29F	probably benign	Het
Pkd2	T	C	5: 104,477,075	Y246H	probably benign	Het
Plekha5	G	T	6: 140,583,850	G340*	probably null	Het
Plxna4	T	A	6: 32,152,905	M1828L	probably damaging	Het
Prex1	A	G	2: 166,621,185	I252T	probably benign	Het
Pura	A	G	18: 36,287,778	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713	F782I	probably damaging	Het
Rbp4	T	C	19: 38,124,115	D90G	probably damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Scn7a	C	A	2: 66,700,048	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,749,151		probably null	Het
Slc43a1	T	G	2: 84,849,771	L87R	probably damaging	Het
Srgap2	T	A	1: 131,356,907		probably null	Het
Tkt	G	A	14: 30,572,225	V531M	probably damaging	Het
Twsg1	T	C	17: 65,926,436	D173G	possibly damaging	Het
Ugt2b37	G	T	5: 87,241,002	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,423,733	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,258,270	I41T	probably benign	Het
Vwa5a	A	T	9: 38,737,956	T667S	probably benign	Het
Xrn2	A	G	2: 147,047,713	E672G	probably benign	Het
Zfp235	T	A	7: 24,135,302	M1K	probably null	Het
Zmym1	T	C	4: 127,047,760	E847G	probably damaging	Het

Other mutations in Sppl2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Sppl2c	APN	11	104186979	missense	possibly damaging	0.83
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
R7871:Sppl2c	UTSW	11	104188516	splice site	probably null
R7896:Sppl2c	UTSW	11	104187130	missense	possibly damaging	0.94
R7991:Sppl2c	UTSW	11	104187363	missense	probably benign	0.00
R7991:Sppl2c	UTSW	11	104187814	missense	possibly damaging	0.94
R8035:Sppl2c	UTSW	11	104187366	missense	probably benign	0.01
R8221:Sppl2c	UTSW	11	104186884	missense	probably damaging	0.99
R8243:Sppl2c	UTSW	11	104187861	missense	probably damaging	1.00

Posted On

2015-04-16