Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Spcs1'

181164

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spcs1

Ensembl Gene

ENSMUSG00000021917

Gene Name

signal peptidase complex subunit 1 homolog (S. cerevisiae)

Synonyms

1810004F21Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

30721783-30723330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30722829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 82 (M82T)

Ref Sequence

ENSEMBL: ENSMUSP00000154282 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000160342
AA Change: M82T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160663

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161219
AA Change: M23T

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123969
Gene: ENSMUSG00000021917
AA Change: M23T

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 damaging
Transcript: ENSMUST00000162092
AA Change: M82T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124428
Gene: ENSMUSG00000021917
AA Change: M82T

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

probably damaging
Transcript: ENSMUST00000186131
AA Change: M82T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139654
Gene: ENSMUSG00000021917
AA Change: M82T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182501
AA Change: M23T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138134
Gene: ENSMUSG00000021917
AA Change: M23T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226782
AA Change: M82T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000228736
AA Change: M23T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228767
AA Change: M82T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226374
AA Change: M23T

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226290

Predicted Effect

probably benign
Transcript: ENSMUST00000226378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228718

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,094,802 (GRCm39)	L123Q	probably benign	Het
Abca2	C	T	2: 25,333,107 (GRCm39)	S1602F	probably benign	Het
Abcc9	C	A	6: 142,551,630 (GRCm39)	C1191F	probably damaging	Het
Adam3	G	T	8: 25,171,462 (GRCm39)		probably benign	Het
Aldh1l1	G	T	6: 90,539,677 (GRCm39)	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,486,083 (GRCm39)	N57D	possibly damaging	Het
Asic1	A	T	15: 99,596,982 (GRCm39)	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,294,724 (GRCm39)	I233T	probably benign	Het
Ccdc185	G	T	1: 182,575,769 (GRCm39)	Q307K	probably benign	Het
Cep120	T	C	18: 53,856,220 (GRCm39)	D399G	probably benign	Het
Cnn2	G	A	10: 79,828,388 (GRCm39)	V122M	probably benign	Het
Dgkd	T	C	1: 87,852,281 (GRCm39)	S472P	probably damaging	Het
Dock5	A	C	14: 68,049,681 (GRCm39)	I701S	probably damaging	Het
Efl1	A	G	7: 82,347,184 (GRCm39)	E570G	probably benign	Het
Eln	G	A	5: 134,747,024 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,831 (GRCm39)	V81A	probably benign	Het
Fbxw21	T	G	9: 108,977,224 (GRCm39)	I162L	probably benign	Het
Fhl2	G	A	1: 43,170,832 (GRCm39)	Q161*	probably null	Het
Gabrg2	A	G	11: 41,862,548 (GRCm39)	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Grik5	A	T	7: 24,764,607 (GRCm39)	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,486,408 (GRCm39)	K156*	probably null	Het
Hecw1	T	C	13: 14,490,895 (GRCm39)	Y699C	probably benign	Het
Ipo9	A	C	1: 135,335,811 (GRCm39)	V202G	possibly damaging	Het
Itprid1	A	G	6: 55,945,030 (GRCm39)	R584G	probably benign	Het
Jmjd6	A	T	11: 116,732,184 (GRCm39)		probably null	Het
Lama5	A	G	2: 179,834,185 (GRCm39)	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,679,572 (GRCm39)		probably benign	Het
Mavs	T	C	2: 131,088,525 (GRCm39)	V443A	probably damaging	Het
Mpdz	A	T	4: 81,204,624 (GRCm39)	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Or4a78	A	T	2: 89,497,812 (GRCm39)	C139*	probably null	Het
Otud7b	G	T	3: 96,062,776 (GRCm39)	G672C	probably benign	Het
Palld	T	A	8: 61,988,734 (GRCm39)	T572S	probably benign	Het
Pde6b	T	A	5: 108,570,902 (GRCm39)	V379E	probably benign	Het
Peak1	A	G	9: 56,166,059 (GRCm39)	V623A	probably damaging	Het
Prr12	C	T	7: 44,698,083 (GRCm39)		probably benign	Het
Rxra	T	C	2: 27,644,253 (GRCm39)	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,416,338 (GRCm39)	A55V	probably damaging	Het
Slitrk3	T	C	3: 72,958,404 (GRCm39)	N123D	possibly damaging	Het
Smr2l	A	G	5: 88,430,301 (GRCm39)	S66G	probably benign	Het
Sspo	A	G	6: 48,472,116 (GRCm39)	E113G	probably benign	Het
Syne2	A	G	12: 76,013,994 (GRCm39)	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,510,656 (GRCm39)	S310P	probably benign	Het
Ubp1	T	C	9: 113,785,826 (GRCm39)	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,477,869 (GRCm39)	C169*	probably null	Het
Vmn1r223	T	A	13: 23,434,407 (GRCm39)	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 109,143,820 (GRCm39)	I710N	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdr26	A	G	1: 181,038,635 (GRCm39)		probably benign	Het
Wnt7a	A	G	6: 91,371,645 (GRCm39)	F106L	probably benign	Het
Zfp940	C	T	7: 29,546,295 (GRCm39)	V34M	probably damaging	Het

Other mutations in Spcs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07