Mutagenetix > Incidental Mutation

Incidental Mutation 'R5140:Spcs1'

396420

Institutional Source

Beutler Lab

Gene Symbol

Spcs1

Ensembl Gene

ENSMUSG00000021917

Gene Name

signal peptidase complex subunit 1 homolog (S. cerevisiae)

Synonyms

1810004F21Rik

MMRRC Submission

042726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R5140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30721783-30723330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30722570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 83 (L83S)

Ref Sequence

ENSEMBL: ENSMUSP00000154169 (fasta)

Gene Model

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

probably benign
Transcript: ENSMUST00000161219
AA Change: L83S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123969
Gene: ENSMUSG00000021917
AA Change: L83S

Domain	Start	End	E-Value	Type
Pfam:SPC12	12	68	1.2e-17	PFAM
transmembrane domain	85	107	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161343

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

probably benign
Transcript: ENSMUST00000186131

SMART Domains

Protein: ENSMUSP00000139654
Gene: ENSMUSG00000021917

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226290

Predicted Effect

probably benign
Transcript: ENSMUST00000226374
AA Change: L83S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228718

Predicted Effect

probably benign
Transcript: ENSMUST00000226782

Predicted Effect

probably benign
Transcript: ENSMUST00000228736

Predicted Effect

probably benign
Transcript: ENSMUST00000228767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226348

Predicted Effect

probably benign
Transcript: ENSMUST00000226378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227838

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,752,154 (GRCm39)	I405N	probably damaging	Het
Abhd17b	T	C	19: 21,661,545 (GRCm39)	L244P	probably damaging	Het
Aebp2	T	A	6: 140,579,532 (GRCm39)	C34*	probably null	Het
Arhgap33	A	G	7: 30,227,726 (GRCm39)	V491A	probably damaging	Het
Cacul1	C	T	19: 60,551,619 (GRCm39)	R201Q	probably benign	Het
Cald1	T	A	6: 34,730,515 (GRCm39)	N77K	probably damaging	Het
Clcn6	A	C	4: 148,122,774 (GRCm39)		probably benign	Het
Copb1	A	T	7: 113,846,035 (GRCm39)	H178Q	probably benign	Het
Dnah17	C	T	11: 117,977,771 (GRCm39)	V1854I	probably damaging	Het
Dnajc16	T	G	4: 141,491,994 (GRCm39)	T610P	possibly damaging	Het
Enpp1	T	C	10: 24,528,750 (GRCm39)	N624S	possibly damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Foxn1	T	C	11: 78,252,459 (GRCm39)	T310A	probably benign	Het
Galnt16	T	A	12: 80,628,073 (GRCm39)	D256E	possibly damaging	Het
Gbp11	T	C	5: 105,478,919 (GRCm39)	D173G	probably damaging	Het
Glmn	A	G	5: 107,718,066 (GRCm39)	S284P	probably damaging	Het
Gm3985	A	G	8: 33,380,693 (GRCm39)		noncoding transcript	Het
Hs3st6	A	T	17: 24,977,521 (GRCm39)	M334L	probably benign	Het
Idua	T	A	5: 108,828,180 (GRCm39)	D155E	probably damaging	Het
Kdm6b	T	C	11: 69,290,881 (GRCm39)		probably benign	Het
Kiss1r	T	C	10: 79,757,461 (GRCm39)	F272L	probably damaging	Het
Krt35	T	C	11: 99,985,343 (GRCm39)	K233E	probably damaging	Het
Krt36	C	T	11: 99,994,328 (GRCm39)	V250M	probably damaging	Het
Lhpp	T	C	7: 132,307,361 (GRCm39)	Y253H	probably damaging	Het
Npas3	T	A	12: 53,547,897 (GRCm39)	L51*	probably null	Het
Or10ac1	T	C	6: 42,515,449 (GRCm39)	H169R	probably benign	Het
Or1j18	T	A	2: 36,624,510 (GRCm39)	M59K	possibly damaging	Het
Or4a74	T	C	2: 89,439,627 (GRCm39)	Y273C	probably damaging	Het
Or4c119	T	C	2: 88,987,451 (GRCm39)	K23E	probably benign	Het
Or56b2	T	C	7: 104,338,107 (GRCm39)	M295T	probably benign	Het
Pcdhb9	T	G	18: 37,534,186 (GRCm39)	V60G	probably benign	Het
Prkce	T	C	17: 86,789,570 (GRCm39)	V239A	probably benign	Het
Ralgapa1	C	T	12: 55,822,937 (GRCm39)	C293Y	probably damaging	Het
Ralgapa1	C	T	12: 55,712,459 (GRCm39)	R1804Q	probably damaging	Het
Rnf26	C	A	9: 44,024,071 (GRCm39)		probably null	Het
Safb2	T	C	17: 56,884,901 (GRCm39)	D178G	probably benign	Het
Scn9a	C	T	2: 66,395,511 (GRCm39)	V178M	possibly damaging	Het
Sergef	A	G	7: 46,285,026 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,190,544 (GRCm39)	G7R	probably benign	Het
Setd2	C	A	9: 110,380,197 (GRCm39)	D1337E	probably benign	Het
Shprh	T	A	10: 11,030,449 (GRCm39)	M222K	probably benign	Het
Slc25a40	T	C	5: 8,480,486 (GRCm39)	Y79H	probably damaging	Het
Slc41a2	A	G	10: 83,133,155 (GRCm39)	M297T	probably damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Sult1c2	T	C	17: 54,276,743 (GRCm39)	N106S	probably benign	Het
Szt2	C	T	4: 118,244,178 (GRCm39)	R1309Q	possibly damaging	Het
Ube3c	T	A	5: 29,840,709 (GRCm39)	F695I	probably damaging	Het
Uimc1	A	G	13: 55,223,330 (GRCm39)	L314P	probably damaging	Het
Usp17le	C	T	7: 104,418,645 (GRCm39)	E166K	probably damaging	Het
Vmn2r92	G	A	17: 18,372,312 (GRCm39)	D41N	probably benign	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
R5359:Spcs1	UTSW	14	30,722,074 (GRCm39)	missense	probably damaging	0.99
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'- GCATATTCATTTTACTGCCTAGAGGAG -3'
(R):5'- GCTGAACAGATGTTTCAGGGG -3'

Sequencing Primer
(F):5'- TTTACTGCCTAGAGGAGATGCAAAAG -3'
(R):5'- GAACAGATGTTTCAGGGGATCATTC -3'

Posted On

2016-06-21