Mutagenetix > Incidental Mutation

Incidental Mutation 'R1704:Sec11a'

189968

Institutional Source

Beutler Lab

Gene Symbol

Sec11a

Ensembl Gene

ENSMUSG00000025724

Gene Name

SEC11 homolog A, signal peptidase complex subunit

Synonyms

1810012E07Rik, 18kDa, Spc18, sid2895, Sec11l1

MMRRC Submission

039737-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

R1704 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80565125-80597295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80584848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 30 (S30T)

Ref Sequence

ENSEMBL: ENSMUSP00000112944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026818] [ENSMUST00000117383] [ENSMUST00000119980] [ENSMUST00000120285]

AlphaFold

Q9R0P6

Predicted Effect

probably benign
Transcript: ENSMUST00000026818
AA Change: S30T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000026818
Gene: ENSMUSG00000025724
AA Change: S30T

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Peptidase_S24	51	120	6.2e-13	PFAM
low complexity region	166	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117383
AA Change: S30T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113601
Gene: ENSMUSG00000025724
AA Change: S30T

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Peptidase_S24	51	112	3.1e-12	PFAM
low complexity region	177	187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119980
AA Change: S30T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112425
Gene: ENSMUSG00000025724
AA Change: S30T

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Peptidase_S24	51	120	2.5e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120285
AA Change: S30T

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112944
Gene: ENSMUSG00000025724
AA Change: S30T

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Peptidase_S24	51	123	8.5e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147881

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	C	T	3: 37,146,164 (GRCm39)	H511Y	probably benign	Het
Aldh1l2	C	T	10: 83,344,524 (GRCm39)	A341T	probably benign	Het
Apon	T	C	10: 128,090,865 (GRCm39)	F181S	probably damaging	Het
Avpr1b	T	A	1: 131,537,242 (GRCm39)	L342Q	possibly damaging	Het
Cacna1c	A	T	6: 118,579,107 (GRCm39)	H1810Q	probably benign	Het
Camta1	T	C	4: 151,159,681 (GRCm39)	Y1593C	probably damaging	Het
Cdh23	T	A	10: 60,150,390 (GRCm39)	I2527F	probably damaging	Het
Cep192	T	A	18: 67,989,327 (GRCm39)	S1825T	probably damaging	Het
Cntnap4	T	A	8: 113,484,155 (GRCm39)	W403R	probably damaging	Het
Crppa	A	G	12: 36,571,493 (GRCm39)	E279G	probably benign	Het
D630045J12Rik	G	A	6: 38,116,362 (GRCm39)	P1753S	probably benign	Het
Dsg4	T	C	18: 20,604,646 (GRCm39)	Y1038H	probably damaging	Het
Fat1	C	T	8: 45,478,613 (GRCm39)	T2553I	probably damaging	Het
Fem1c	A	T	18: 46,639,263 (GRCm39)	N246K	probably benign	Het
Frmd8	T	A	19: 5,919,510 (GRCm39)	Q179L	probably benign	Het
Gbp10	A	G	5: 105,372,217 (GRCm39)	F181S	probably damaging	Het
Hfe	T	C	13: 23,888,391 (GRCm39)	Y265C	probably damaging	Het
Kifap3	A	G	1: 163,656,765 (GRCm39)	N362D	possibly damaging	Het
Lima1	A	G	15: 99,717,617 (GRCm39)	F130L	probably benign	Het
Lipo3	A	T	19: 33,757,743 (GRCm39)	V242E	possibly damaging	Het
Nf1	T	A	11: 79,354,127 (GRCm39)		probably null	Het
Nos1ap	C	G	1: 170,165,781 (GRCm39)	E161Q	probably damaging	Het
Or1q1	A	T	2: 36,886,896 (GRCm39)	I25F	probably benign	Het
Or2t43	A	T	11: 58,457,580 (GRCm39)	M197K	probably damaging	Het
Pde4dip	C	T	3: 97,661,576 (GRCm39)	V611I	probably benign	Het
Pdk2	T	C	11: 94,919,376 (GRCm39)	I300V	possibly damaging	Het
Polr2b	A	G	5: 77,490,407 (GRCm39)	D849G	possibly damaging	Het
Polr3a	G	A	14: 24,534,188 (GRCm39)	Q106*	probably null	Het
Prr14l	G	T	5: 32,987,626 (GRCm39)	A623D	probably benign	Het
Rab43	A	C	6: 87,788,363 (GRCm39)		probably null	Het
Sart3	G	A	5: 113,884,068 (GRCm39)	T648M	probably benign	Het
Scn10a	T	C	9: 119,438,460 (GRCm39)	D1803G	probably damaging	Het
Sez6l2	G	A	7: 126,557,513 (GRCm39)	G309E	probably damaging	Het
Snx14	A	C	9: 88,295,591 (GRCm39)	D191E	probably damaging	Het
Sox6	A	T	7: 115,076,183 (GRCm39)	N777K	possibly damaging	Het
Susd4	A	G	1: 182,681,678 (GRCm39)	N173S	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tgfbrap1	G	T	1: 43,093,816 (GRCm39)	Q559K	probably benign	Het
Tmco1	T	C	1: 167,153,506 (GRCm39)	S129P	possibly damaging	Het
Tmprss11a	T	C	5: 86,576,561 (GRCm39)	T97A	probably benign	Het
Tnni3k	G	A	3: 154,533,145 (GRCm39)	A774V	probably benign	Het
Tshz3	T	C	7: 36,470,785 (GRCm39)	S925P	possibly damaging	Het
Ush2a	T	C	1: 188,553,993 (GRCm39)	V3494A	probably damaging	Het
Vmn2r9	T	C	5: 108,994,266 (GRCm39)	D461G	probably damaging	Het
Zan	A	T	5: 137,432,264 (GRCm39)	C2344*	probably null	Het
Zfp629	A	G	7: 127,210,036 (GRCm39)	I591T	probably benign	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Zmym1	A	T	4: 126,942,177 (GRCm39)	I737N	probably damaging	Het
Zranb3	T	C	1: 128,019,740 (GRCm39)	M1V	probably null	Het

Other mutations in Sec11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Sec11a	APN	7	80,584,810 (GRCm39)	missense	probably benign	0.21
R0083:Sec11a	UTSW	7	80,584,787 (GRCm39)	missense	probably damaging	1.00
R0108:Sec11a	UTSW	7	80,584,787 (GRCm39)	missense	probably damaging	1.00
R0661:Sec11a	UTSW	7	80,584,787 (GRCm39)	missense	probably damaging	1.00
R1511:Sec11a	UTSW	7	80,577,482 (GRCm39)	splice site	probably null
R4209:Sec11a	UTSW	7	80,584,790 (GRCm39)	missense	probably damaging	1.00
R5135:Sec11a	UTSW	7	80,572,812 (GRCm39)	intron	probably benign
R6362:Sec11a	UTSW	7	80,572,879 (GRCm39)	missense	probably benign	0.02
R8799:Sec11a	UTSW	7	80,584,850 (GRCm39)	missense	possibly damaging	0.95
R9222:Sec11a	UTSW	7	80,565,634 (GRCm39)	missense	probably damaging	1.00
R9346:Sec11a	UTSW	7	80,557,760 (GRCm39)	missense	unknown
R9589:Sec11a	UTSW	7	80,565,899 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGACTTCCTTTCAGGCGCTC -3'
(R):5'- CCTGATGATGATGGTCTGTTTGCCC -3'

Sequencing Primer
(F):5'- CTAGGTAACAATTTCTAAGGAGCTG -3'
(R):5'- ccagagtgtaagaagcaagagag -3'

Posted On

2014-05-14