Mutagenetix > Incidental Mutation

Incidental Mutation 'R5359:Spcs1'

424252

Institutional Source

Beutler Lab

Gene Symbol

Spcs1

Ensembl Gene

ENSMUSG00000021917

Gene Name

signal peptidase complex subunit 1 homolog (S. cerevisiae)

Synonyms

1810004F21Rik

MMRRC Submission

042938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R5359 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30721783-30723330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30722074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 156 (R156G)

Ref Sequence

ENSEMBL: ENSMUSP00000154282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000168584] [ENSMUST00000186131] [ENSMUST00000228736] [ENSMUST00000226782] [ENSMUST00000228767] [ENSMUST00000226374] [ENSMUST00000226378]

AlphaFold

Q9D958

Predicted Effect

probably benign
Transcript: ENSMUST00000022476

SMART Domains

Protein: ENSMUSP00000022476
Gene: ENSMUSG00000021916

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_transf_8	67	340	1.7e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161343

Predicted Effect

probably damaging
Transcript: ENSMUST00000162092
AA Change: R156G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124428
Gene: ENSMUSG00000021917
AA Change: R156G

Domain	Start	End	E-Value	Type
Pfam:SPC12	71	141	2.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168584

SMART Domains

Protein: ENSMUSP00000129323
Gene: ENSMUSG00000021916

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_transf_8	67	340	8.6e-55	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182501
AA Change: R97G

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138134
Gene: ENSMUSG00000021917
AA Change: R97G

Domain	Start	End	E-Value	Type
Pfam:SPC12	12	90	4.4e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186131
AA Change: R156G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139654
Gene: ENSMUSG00000021917
AA Change: R156G

Domain	Start	End	E-Value	Type
Pfam:SPC12	71	149	2.1e-35	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228736
AA Change: R97G

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226782
AA Change: R156G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000228767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228718

Predicted Effect

probably benign
Transcript: ENSMUST00000226374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226348

Predicted Effect

probably benign
Transcript: ENSMUST00000226378

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5b1	T	A	19: 5,619,126 (GRCm39)	I182N	possibly damaging	Het
Arap2	A	T	5: 62,840,762 (GRCm39)	C701*	probably null	Het
Bcr	T	A	10: 75,001,917 (GRCm39)	F940L	probably damaging	Het
Cav2	A	T	6: 17,287,064 (GRCm39)		probably benign	Het
Cdk2	T	C	10: 128,539,857 (GRCm39)		probably benign	Het
Clic4	G	A	4: 134,944,446 (GRCm39)	A243V	probably benign	Het
Dap3	A	T	3: 88,838,296 (GRCm39)	V99D	probably damaging	Het
Dennd5a	T	C	7: 109,497,169 (GRCm39)	E1110G	probably damaging	Het
Dhx30	T	C	9: 109,922,203 (GRCm39)	N160D	probably damaging	Het
Dnai7	T	G	6: 145,142,618 (GRCm39)	T120P	probably damaging	Het
Dock9	A	G	14: 121,890,472 (GRCm39)	M268T	possibly damaging	Het
Dspp	T	A	5: 104,323,752 (GRCm39)	D298E	probably damaging	Het
Elane	A	G	10: 79,722,870 (GRCm39)	E92G	probably damaging	Het
Erp44	A	T	4: 48,211,704 (GRCm39)	D197E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gbf1	T	C	19: 46,272,164 (GRCm39)		probably null	Het
Gm1968	A	T	16: 29,777,617 (GRCm39)		noncoding transcript	Het
Hydin	T	A	8: 111,265,004 (GRCm39)	V2729E	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Iqgap1	T	C	7: 80,416,707 (GRCm39)	T106A	probably benign	Het
Kcnj6	G	C	16: 94,633,312 (GRCm39)	Y248*	probably null	Het
Mllt3	A	G	4: 87,759,164 (GRCm39)	S295P	probably benign	Het
Or2w1b	A	C	13: 21,300,437 (GRCm39)	T192P	probably damaging	Het
Pex11b	G	A	3: 96,551,229 (GRCm39)	C224Y	probably damaging	Het
Pik3c2g	A	G	6: 139,599,121 (GRCm39)	Y79C	probably damaging	Het
Plcz1	T	C	6: 139,974,178 (GRCm39)	Y88C	probably damaging	Het
Pole	A	G	5: 110,480,354 (GRCm39)	N99S	probably benign	Het
Pyroxd1	T	G	6: 142,307,717 (GRCm39)	Y496D	probably damaging	Het
Rasef	A	G	4: 73,689,565 (GRCm39)	L68P	probably damaging	Het
Rgs13	T	A	1: 144,015,322 (GRCm39)	M132L	probably damaging	Het
RP24-187P11.4	T	G	9: 109,349,944 (GRCm39)		noncoding transcript	Het
Rsph4a	A	G	10: 33,784,232 (GRCm39)	T285A	probably benign	Het
Ryr3	A	T	2: 112,606,186 (GRCm39)		probably null	Het
Slc30a1	T	A	1: 191,641,865 (GRCm39)	*504R	probably null	Het
Supv3l1	A	G	10: 62,268,178 (GRCm39)	F556L	probably damaging	Het
Thumpd2	C	T	17: 81,334,206 (GRCm39)	V461M	probably benign	Het
Timm50	A	G	7: 28,007,592 (GRCm39)	L158P	probably damaging	Het
Tnrc6c	T	C	11: 117,649,731 (GRCm39)		silent	Het
Ttn	G	A	2: 76,726,147 (GRCm39)	Q1807*	probably null	Het
Zdhhc14	A	G	17: 5,543,821 (GRCm39)	I34V	probably benign	Het
Zgrf1	T	A	3: 127,394,814 (GRCm39)	M506K	possibly damaging	Het

Other mutations in Spcs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01941:Spcs1	APN	14	30,722,829 (GRCm39)	missense	probably damaging	0.98
R5140:Spcs1	UTSW	14	30,722,570 (GRCm39)	missense	probably benign	0.00
R7178:Spcs1	UTSW	14	30,722,438 (GRCm39)	missense	possibly damaging	0.50
R7761:Spcs1	UTSW	14	30,723,607 (GRCm39)	start gained	probably benign
R7901:Spcs1	UTSW	14	30,722,628 (GRCm39)	missense	probably benign	0.00
R8237:Spcs1	UTSW	14	30,722,658 (GRCm39)	missense	noncoding transcript
R8377:Spcs1	UTSW	14	30,722,103 (GRCm39)	missense	possibly damaging	0.95
R8487:Spcs1	UTSW	14	30,722,721 (GRCm39)	missense	probably benign	0.25
X0022:Spcs1	UTSW	14	30,723,342 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTGTTCTCCATAACAAGCTTATG -3'
(R):5'- GTGGTTATTTGGGGATCAGACATAC -3'

Sequencing Primer
(F):5'- TCCATAACAAGCTTATGAAGAGATGG -3'
(R):5'- TGGGGATCAGACATACTAAATGATC -3'

Posted On

2016-08-04