Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02479:Sppl2c'

295101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sppl2c

Ensembl Gene

ENSMUSG00000049506

Gene Name

signal peptide peptidase 2C

Synonyms

4933407P14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

104077153-104081989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104077763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 188 (V188I)

Ref Sequence

ENSEMBL: ENSMUSP00000102613 (fasta)

Gene Model

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

AlphaFold

A2A6C4

Predicted Effect

probably benign
Transcript: ENSMUST00000059448
AA Change: V188I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091453
Gene: ENSMUSG00000049506
AA Change: V188I

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: V188I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102613
Gene: ENSMUSG00000049506
AA Change: V188I

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,639,461 (GRCm39)	Y528C	probably damaging	Het
Adam24	T	A	8: 41,132,571 (GRCm39)	I13N	probably benign	Het
Arsj	T	C	3: 126,232,588 (GRCm39)	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,683,373 (GRCm39)	T31I	possibly damaging	Het
Cask	A	T	X: 13,423,297 (GRCm39)	D502E	probably damaging	Het
Cenpl	T	A	1: 160,910,637 (GRCm39)	S195T	probably benign	Het
Clhc1	T	A	11: 29,528,107 (GRCm39)	I545N	probably damaging	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Csf2rb	C	T	15: 78,225,924 (GRCm39)	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,727,477 (GRCm39)	D284G	probably benign	Het
Dgka	T	C	10: 128,566,115 (GRCm39)	E345G	probably benign	Het
Dync1i2	G	A	2: 71,066,323 (GRCm39)	V128I	probably damaging	Het
Eno3	T	A	11: 70,551,714 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,422,147 (GRCm39)	I347K	probably benign	Het
F8	A	T	X: 74,331,846 (GRCm39)	N681K	probably damaging	Het
Fancm	T	A	12: 65,153,259 (GRCm39)	D1238E	probably damaging	Het
Fcna	T	A	2: 25,515,272 (GRCm39)	Q237L	probably benign	Het
Fpr2	A	T	17: 18,113,074 (GRCm39)	R23S	probably benign	Het
Frmd3	A	G	4: 74,105,752 (GRCm39)	D466G	probably benign	Het
Gen1	C	A	12: 11,291,936 (GRCm39)	V618L	probably benign	Het
Gja4	T	C	4: 127,206,217 (GRCm39)	E182G	probably benign	Het
Gsdmc	T	A	15: 63,649,824 (GRCm39)	I356F	possibly damaging	Het
Kctd19	T	C	8: 106,111,400 (GRCm39)	D102G	probably damaging	Het
Lrit2	T	C	14: 36,794,235 (GRCm39)	L433P	probably damaging	Het
Lrp2	G	A	2: 69,295,145 (GRCm39)		probably benign	Het
Luc7l3	G	A	11: 94,187,735 (GRCm39)		probably benign	Het
Map3k5	T	A	10: 19,932,230 (GRCm39)	L458Q	probably damaging	Het
Mast4	A	G	13: 102,878,545 (GRCm39)	S1038P	probably damaging	Het
Med12	A	T	X: 100,340,598 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,555,041 (GRCm39)	L888M	probably damaging	Het
Nova1	A	T	12: 46,863,701 (GRCm39)	I83N	unknown	Het
Obscn	A	G	11: 58,947,053 (GRCm39)		probably benign	Het
Or11q2	T	C	X: 48,772,742 (GRCm39)	V121A	probably benign	Het
Or4d10c	T	A	19: 12,065,269 (GRCm39)	M296L	probably benign	Het
Or4f15	A	C	2: 111,813,730 (GRCm39)	S230A	probably benign	Het
Or6k2	C	A	1: 173,986,520 (GRCm39)	Y60*	probably null	Het
Pde2a	A	G	7: 101,150,290 (GRCm39)	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,288,215 (GRCm39)	K1062*	probably null	Het
Phc1	A	T	6: 122,300,676 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,863,730 (GRCm39)	S764T	probably benign	Het
Pmp2	T	G	3: 10,247,262 (GRCm39)	R89S	probably benign	Het
Prdm2	A	G	4: 142,861,499 (GRCm39)	L597P	probably damaging	Het
Rfx6	T	A	10: 51,554,424 (GRCm39)	D88E	probably benign	Het
Rgs9	T	C	11: 109,116,478 (GRCm39)	S442G	possibly damaging	Het
Ror2	C	T	13: 53,285,968 (GRCm39)	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,868,852 (GRCm39)	A986E	possibly damaging	Het
Slc5a5	T	A	8: 71,341,555 (GRCm39)	M325L	possibly damaging	Het
Slx9	T	C	10: 77,350,161 (GRCm39)	S76G	probably damaging	Het
Srrm3	G	T	5: 135,864,103 (GRCm39)	C67F	probably damaging	Het
Stk31	A	G	6: 49,398,622 (GRCm39)	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476 (GRCm39)	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Trav8d-1	T	C	14: 53,016,257 (GRCm39)	S48P	probably benign	Het
Vrk1	A	T	12: 106,017,261 (GRCm39)	Q95L	probably benign	Het
Wdr25	C	A	12: 108,864,527 (GRCm39)	T224K	probably benign	Het
Wdr37	A	T	13: 8,892,820 (GRCm39)	H224Q	probably damaging	Het
Zhx1	C	T	15: 57,917,767 (GRCm39)	E160K	probably damaging	Het

Other mutations in Sppl2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Sppl2c	APN	11	104,077,805 (GRCm39)	missense	possibly damaging	0.83
IGL02326:Sppl2c	APN	11	104,078,099 (GRCm39)	missense	probably benign	0.27
H8786:Sppl2c	UTSW	11	104,077,691 (GRCm39)	missense	probably benign	0.04
R0083:Sppl2c	UTSW	11	104,077,358 (GRCm39)	missense	probably benign	0.00
R1625:Sppl2c	UTSW	11	104,077,995 (GRCm39)	missense	probably damaging	0.98
R1913:Sppl2c	UTSW	11	104,078,715 (GRCm39)	missense	probably benign	0.15
R2037:Sppl2c	UTSW	11	104,077,307 (GRCm39)	missense	probably benign	0.23
R2869:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R2869:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R2871:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R2871:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R2873:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R3009:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R3010:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R3011:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R4698:Sppl2c	UTSW	11	104,079,141 (GRCm39)	missense	probably benign	0.21
R4718:Sppl2c	UTSW	11	104,079,141 (GRCm39)	missense	probably benign	0.21
R4841:Sppl2c	UTSW	11	104,078,478 (GRCm39)	missense	probably benign	0.06
R4842:Sppl2c	UTSW	11	104,078,478 (GRCm39)	missense	probably benign	0.06
R5248:Sppl2c	UTSW	11	104,077,407 (GRCm39)	missense	possibly damaging	0.88
R5288:Sppl2c	UTSW	11	104,078,127 (GRCm39)	missense	possibly damaging	0.68
R5300:Sppl2c	UTSW	11	104,077,901 (GRCm39)	missense	possibly damaging	0.52
R5384:Sppl2c	UTSW	11	104,078,127 (GRCm39)	missense	possibly damaging	0.68
R5386:Sppl2c	UTSW	11	104,078,127 (GRCm39)	missense	possibly damaging	0.68
R5427:Sppl2c	UTSW	11	104,078,693 (GRCm39)	missense	probably benign	0.01
R5452:Sppl2c	UTSW	11	104,078,126 (GRCm39)	missense	probably benign
R5796:Sppl2c	UTSW	11	104,078,619 (GRCm39)	missense	probably benign	0.00
R6112:Sppl2c	UTSW	11	104,077,963 (GRCm39)	missense	probably benign	0.00
R6452:Sppl2c	UTSW	11	104,079,017 (GRCm39)	missense	probably benign	0.01
R6476:Sppl2c	UTSW	11	104,077,595 (GRCm39)	missense	probably benign
R7368:Sppl2c	UTSW	11	104,078,430 (GRCm39)	missense	probably damaging	0.99
R7871:Sppl2c	UTSW	11	104,079,342 (GRCm39)	splice site	probably null
R7896:Sppl2c	UTSW	11	104,077,956 (GRCm39)	missense	possibly damaging	0.94
R7991:Sppl2c	UTSW	11	104,078,640 (GRCm39)	missense	possibly damaging	0.94
R7991:Sppl2c	UTSW	11	104,078,189 (GRCm39)	missense	probably benign	0.00
R8035:Sppl2c	UTSW	11	104,078,192 (GRCm39)	missense	probably benign	0.01
R8221:Sppl2c	UTSW	11	104,077,710 (GRCm39)	missense	probably damaging	0.99
R8243:Sppl2c	UTSW	11	104,078,687 (GRCm39)	missense	probably damaging	1.00
R8462:Sppl2c	UTSW	11	104,077,532 (GRCm39)	missense	possibly damaging	0.47
R8474:Sppl2c	UTSW	11	104,078,963 (GRCm39)	missense	probably benign	0.00
R9368:Sppl2c	UTSW	11	104,078,561 (GRCm39)	missense	probably damaging	1.00
R9507:Sppl2c	UTSW	11	104,078,153 (GRCm39)	missense	probably benign	0.00
R9672:Sppl2c	UTSW	11	104,077,344 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16