Mutagenetix > Incidental Mutation

Incidental Mutation 'R8237:Spcs1'

637435

Institutional Source

Beutler Lab

Gene Symbol

Spcs1

Ensembl Gene

ENSMUSG00000021917

Gene Name

signal peptidase complex subunit 1 homolog (S. cerevisiae)

Synonyms

1810004F21Rik

MMRRC Submission

067669-MU

Accession Numbers

Essential gene?

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

Stock #

R8237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30721783-30723330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 30722658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 113 (A113P)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000168584] [ENSMUST00000186131]

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: ENSMUST00000160342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161219
AA Change: A54P

SMART Domains

Protein: ENSMUSP00000123969
Gene: ENSMUSG00000021917
AA Change: A54P

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: ENSMUST00000162092
AA Change: A113P

SMART Domains

Protein: ENSMUSP00000124428
Gene: ENSMUSG00000021917
AA Change: A113P

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

noncoding transcript
Transcript: ENSMUST00000182501
AA Change: A54P

SMART Domains

Protein: ENSMUSP00000138134
Gene: ENSMUSG00000021917
AA Change: A54P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186131
AA Change: A113P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139654
Gene: ENSMUSG00000021917
AA Change: A113P

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,771,373 (GRCm39)	L285P	probably damaging	Het
Abca4	T	C	3: 121,955,952 (GRCm39)	I1905T	probably benign	Het
Abca5	A	T	11: 110,200,981 (GRCm39)	I473K	probably benign	Het
Adgrl3	CAA	CA	5: 81,935,408 (GRCm39)		probably null	Het
Ap2a1	C	A	7: 44,550,220 (GRCm39)	R959L	probably damaging	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Cbs	T	C	17: 31,834,454 (GRCm39)	I512V	probably benign	Het
Ccn4	C	A	15: 66,791,083 (GRCm39)	T295N	probably benign	Het
Ceacam3	T	C	7: 16,897,082 (GRCm39)	Y683H		Het
Chd8	C	T	14: 52,450,809 (GRCm39)	S1426N	probably damaging	Het
Cog8	T	C	8: 107,782,923 (GRCm39)	D122G	probably benign	Het
Crybg1	G	A	10: 43,842,376 (GRCm39)	Q1772*	probably null	Het
Cspg4	T	C	9: 56,799,964 (GRCm39)	F1576S	probably damaging	Het
Ctse	T	A	1: 131,590,467 (GRCm39)	V63E	probably benign	Het
Dnah3	G	T	7: 119,525,636 (GRCm39)	T3917N	probably benign	Het
Dst	C	T	1: 34,208,874 (GRCm39)	T1124M	possibly damaging	Het
Fkbp10	A	G	11: 100,306,785 (GRCm39)	Q59R	probably damaging	Het
Fsip1	A	G	2: 118,063,483 (GRCm39)	S329P	probably damaging	Het
Ginm1	G	T	10: 7,668,419 (GRCm39)	S56R	unknown	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm6401	T	A	14: 41,787,452 (GRCm39)	I125F	probably damaging	Het
Helz2	T	C	2: 180,871,124 (GRCm39)	D2815G	possibly damaging	Het
Hes1	T	C	16: 29,886,047 (GRCm39)	V217A	probably damaging	Het
Hsd3b1	C	T	3: 98,760,426 (GRCm39)	M188I	possibly damaging	Het
Ighv1-75	T	C	12: 115,797,876 (GRCm39)		probably benign	Het
Itprid2	T	C	2: 79,487,614 (GRCm39)	S566P	probably benign	Het
Kif1b	T	A	4: 149,275,642 (GRCm39)	N1423I	probably benign	Het
Lmntd1	G	A	6: 145,373,146 (GRCm39)	T129M	probably damaging	Het
Lonrf2	T	A	1: 38,839,854 (GRCm39)	T414S	probably benign	Het
Lrp1b	T	C	2: 40,741,786 (GRCm39)	D3161G		Het
Lyst	T	C	13: 13,826,317 (GRCm39)	I1608T	probably benign	Het
Map9	C	T	3: 82,284,467 (GRCm39)	P347L	probably damaging	Het
Mixl1	G	A	1: 180,524,322 (GRCm39)	Q86*	probably null	Het
Muc5b	T	C	7: 141,411,697 (GRCm39)	S1548P	unknown	Het
Myo15b	A	G	11: 115,767,827 (GRCm39)	K1376E		Het
Nlrc5	A	G	8: 95,252,753 (GRCm39)	T105A	unknown	Het
Npepps	A	G	11: 97,139,026 (GRCm39)		probably null	Het
Nup205	T	A	6: 35,204,438 (GRCm39)	F1441L	possibly damaging	Het
Or5p69	A	C	7: 107,967,234 (GRCm39)	H179P	probably damaging	Het
Pbx4	A	G	8: 70,317,093 (GRCm39)	T117A	probably benign	Het
Phf2	T	A	13: 48,976,514 (GRCm39)	T234S	unknown	Het
Pik3r2	G	A	8: 71,224,794 (GRCm39)	A194V	probably benign	Het
Plaat1	C	A	16: 29,039,106 (GRCm39)	T62K	probably benign	Het
Plbd2	T	C	5: 120,637,114 (GRCm39)	D116G	probably damaging	Het
Plpp2	G	A	10: 79,363,294 (GRCm39)	A235V	possibly damaging	Het
Prkce	G	T	17: 86,866,646 (GRCm39)	R502L	probably damaging	Het
Psrc1	C	T	3: 108,293,930 (GRCm39)	A249V	probably damaging	Het
Ptdss1	T	C	13: 67,124,841 (GRCm39)	C347R	probably damaging	Het
Serpina1b	C	A	12: 103,785,063 (GRCm39)		probably null	Het
Stxbp2	C	T	8: 3,685,695 (GRCm39)	T247M		Het
Tex15	A	G	8: 34,067,427 (GRCm39)	T2286A	possibly damaging	Het
Usp45	T	G	4: 21,834,274 (GRCm39)	V736G	probably damaging	Het
Vmn2r69	A	G	7: 85,060,340 (GRCm39)	S415P	probably benign	Het
Zfp407	T	C	18: 84,578,269 (GRCm39)	E948G	possibly damaging	Het
Zfp942	A	T	17: 22,147,226 (GRCm39)	C468S	possibly damaging	Het
Zmym6	A	G	4: 127,016,544 (GRCm39)	E775G	probably damaging	Het
Zranb2	A	G	3: 157,250,677 (GRCm39)	R283G	probably null	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
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
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'- TTATGTAGCGCAGGCCATCG -3'
(R):5'- TCGTCCCTAGGATTACAAGGG -3'

Sequencing Primer
(F):5'- GGCCATCGGACACAACTTAACATTC -3'
(R):5'- CTAGCTGAACAGATGTTTCAGGG -3'

Posted On

2020-07-13