Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01933:Sec11a'

180481

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec11a

Ensembl Gene

ENSMUSG00000025724

Gene Name

SEC11 homolog A, signal peptidase complex subunit

Synonyms

1810012E07Rik, 18kDa, Spc18, sid2895, Sec11l1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

IGL01933

Quality Score

Status

Chromosome

Chromosomal Location

80565125-80597295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80584810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 42 (I42M)

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: I42M

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000026818
Gene: ENSMUSG00000025724
AA Change: I42M

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: I42M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113601
Gene: ENSMUSG00000025724
AA Change: I42M

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: I42M

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112425
Gene: ENSMUSG00000025724
AA Change: I42M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120285
AA Change: I42M

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112944
Gene: ENSMUSG00000025724
AA Change: I42M

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,650 (GRCm39)	V575F	possibly damaging	Het
Abca2	T	A	2: 25,334,123 (GRCm39)	V1800E	probably damaging	Het
Acacb	C	T	5: 114,322,251 (GRCm39)		probably benign	Het
Adam34	C	A	8: 44,104,569 (GRCm39)	G359W	probably damaging	Het
Ankrd42	G	A	7: 92,254,493 (GRCm39)	T372I	probably benign	Het
Apc2	A	G	10: 80,147,574 (GRCm39)	D847G	probably damaging	Het
Arap3	T	A	18: 38,111,506 (GRCm39)	T1137S	possibly damaging	Het
Atp10b	A	C	11: 43,085,457 (GRCm39)	T279P	probably damaging	Het
Bmp2	T	A	2: 133,396,578 (GRCm39)	M78K	possibly damaging	Het
Ccdc61	T	G	7: 18,626,483 (GRCm39)	M369L	probably benign	Het
Cep78	A	T	19: 15,933,304 (GRCm39)	I758N	probably benign	Het
Ces2a	A	G	8: 105,468,047 (GRCm39)	*526W	probably null	Het
Cgnl1	C	T	9: 71,552,765 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,104 (GRCm39)	Y173H	probably damaging	Het
Cntn4	G	A	6: 106,671,345 (GRCm39)	S976N	probably damaging	Het
Col6a4	G	A	9: 105,937,313 (GRCm39)	T1401I	probably benign	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dixdc1	G	A	9: 50,614,558 (GRCm39)	R163*	probably null	Het
Dmxl1	C	A	18: 50,010,852 (GRCm39)	T1003K	probably benign	Het
Dnah1	G	A	14: 31,032,872 (GRCm39)	R388W	probably benign	Het
Eci3	C	T	13: 35,132,772 (GRCm39)	A202T	probably damaging	Het
Egr2	T	C	10: 67,376,024 (GRCm39)	S220P	probably damaging	Het
Fntb	C	T	12: 76,966,880 (GRCm39)	P405S	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm26602	C	A	10: 79,746,955 (GRCm39)	R236L	probably benign	Het
Hao2	T	C	3: 98,787,648 (GRCm39)		probably benign	Het
Irgm2	A	T	11: 58,110,783 (GRCm39)	N170I	possibly damaging	Het
Klhl20	G	A	1: 160,934,357 (GRCm39)	R221W	probably damaging	Het
Kmt2b	A	G	7: 30,268,939 (GRCm39)		probably null	Het
Lrrc46	C	T	11: 96,926,354 (GRCm39)	E181K	probably benign	Het
Lztr1	T	A	16: 17,338,455 (GRCm39)	V226E	probably damaging	Het
Myh9	G	T	15: 77,665,418 (GRCm39)	D684E	probably benign	Het
Myo7a	T	C	7: 97,732,349 (GRCm39)	T713A	probably damaging	Het
Nrap	G	T	19: 56,377,250 (GRCm39)	N62K	probably damaging	Het
Or51a10	T	C	7: 103,699,021 (GRCm39)	Y180C	probably damaging	Het
Or5an1	A	T	19: 12,261,069 (GRCm39)	Y219F	probably damaging	Het
Osbp2	T	C	11: 3,662,016 (GRCm39)	D708G	probably damaging	Het
Pcnx2	G	A	8: 126,488,393 (GRCm39)	P1717L	probably damaging	Het
Pex1	A	G	5: 3,683,789 (GRCm39)	D1095G	probably damaging	Het
Ptpn3	T	C	4: 57,197,576 (GRCm39)	H771R	probably benign	Het
R3hcc1l	G	A	19: 42,551,389 (GRCm39)	A129T	probably damaging	Het
Rbm15	G	A	3: 107,238,419 (GRCm39)	R660W	probably damaging	Het
Recql	C	T	6: 142,310,364 (GRCm39)	V489M	probably benign	Het
Sash1	A	T	10: 8,626,897 (GRCm39)	S162R	probably damaging	Het
Slc25a23	G	A	17: 57,359,813 (GRCm39)	Q61*	probably null	Het
Son	A	T	16: 91,454,903 (GRCm39)	M1217L	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,339,593 (GRCm39)	N123S	probably damaging	Het
Ssh1	T	C	5: 114,088,441 (GRCm39)		probably benign	Het
St13	T	C	15: 81,273,899 (GRCm39)		probably null	Het
St3gal3	A	T	4: 117,889,072 (GRCm39)	D57E	probably damaging	Het
Stk4	C	T	2: 163,940,505 (GRCm39)		probably benign	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Tln1	T	C	4: 43,555,894 (GRCm39)	T107A	possibly damaging	Het
Tmem135	G	T	7: 88,793,065 (GRCm39)		probably benign	Het
Tmtc3	A	G	10: 100,283,467 (GRCm39)	M696T	probably benign	Het
Trbv28	T	A	6: 41,248,761 (GRCm39)	L97Q	probably damaging	Het
Trpc4ap	A	T	2: 155,481,455 (GRCm39)	F534I	possibly damaging	Het
Trpm8	T	C	1: 88,254,127 (GRCm39)	Y117H	probably damaging	Het
Zfp608	T	C	18: 55,120,871 (GRCm39)	T239A	probably benign	Het
Zmym5	T	G	14: 57,041,617 (GRCm39)	H162P	probably damaging	Het

Other mutations in Sec11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1704:Sec11a	UTSW	7	80,584,848 (GRCm39)	missense	possibly damaging	0.47
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

Posted On

2014-05-07