Mutagenetix > Incidental Mutation

Incidental Mutation 'R5135:Sec11a'

396127

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

043261-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

R5135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80565125-80597295 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 80572812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000026818
Gene: ENSMUSG00000025724

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

SMART Domains

Protein: ENSMUSP00000113601
Gene: ENSMUSG00000025724

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

SMART Domains

Protein: ENSMUSP00000112425
Gene: ENSMUSG00000025724

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

SMART Domains

Protein: ENSMUSP00000112944
Gene: ENSMUSG00000025724

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: ENSMUST00000130981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150049

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (82/84)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	C	1: 183,765,703 (GRCm39)	S119G	probably benign	Het
4930553M12Rik	G	T	4: 88,786,508 (GRCm39)	H37N	unknown	Het
Adam10	T	A	9: 70,673,356 (GRCm39)	C496S	probably damaging	Het
Aldh18a1	A	C	19: 40,543,261 (GRCm39)		probably benign	Het
Alox5	A	G	6: 116,390,747 (GRCm39)	F468S	probably benign	Het
Ankrd50	T	C	3: 38,509,952 (GRCm39)	H805R	probably damaging	Het
Ap2s1	T	A	7: 16,481,248 (GRCm39)	D72E	probably damaging	Het
Apaf1	T	C	10: 90,895,956 (GRCm39)	Y372C	probably damaging	Het
Apob	C	T	12: 8,060,086 (GRCm39)	T2823I	probably damaging	Het
Bhmt	A	G	13: 93,763,831 (GRCm39)	V70A	probably damaging	Het
Bltp3b	T	C	10: 89,625,217 (GRCm39)	I48T	probably damaging	Het
Cdc42bpg	T	A	19: 6,370,648 (GRCm39)	L1247H	probably damaging	Het
Cel	A	G	2: 28,449,435 (GRCm39)	V264A	probably benign	Het
Celsr2	T	C	3: 108,305,975 (GRCm39)	N2043S	probably damaging	Het
Clca4a	A	T	3: 144,660,707 (GRCm39)	W706R	probably damaging	Het
Col22a1	G	T	15: 71,671,186 (GRCm39)	P1058Q	unknown	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dhx30	T	G	9: 109,927,863 (GRCm39)	R55S	probably damaging	Het
Dlgap5	C	T	14: 47,637,122 (GRCm39)	R452H	probably damaging	Het
Dnah12	T	A	14: 26,492,434 (GRCm39)	D1191E	probably damaging	Het
Dock3	A	T	9: 106,810,196 (GRCm39)	I164N	probably damaging	Het
Edrf1	T	A	7: 133,252,773 (GRCm39)	M436K	probably benign	Het
Eif2ak2	T	A	17: 79,173,774 (GRCm39)	Y268F	probably damaging	Het
Evi2a	G	A	11: 79,418,277 (GRCm39)	T111M	possibly damaging	Het
Fzd4	A	G	7: 89,056,709 (GRCm39)	E252G	probably damaging	Het
Gcm2	A	G	13: 41,256,435 (GRCm39)	V438A	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm4846	T	C	1: 166,311,551 (GRCm39)	D436G	probably damaging	Het
Gm5414	T	A	15: 101,536,203 (GRCm39)	I141F	probably damaging	Het
Gm6185	T	A	1: 161,025,801 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,750,897 (GRCm39)	E776G	possibly damaging	Het
H2-Ob	T	A	17: 34,462,490 (GRCm39)	V160E	probably benign	Het
Hormad1	T	C	3: 95,492,531 (GRCm39)		probably benign	Het
Ighv2-1	A	T	12: 113,538,082 (GRCm39)		probably benign	Het
Igkv4-92	A	T	6: 68,732,538 (GRCm39)	C14S	probably benign	Het
Iqsec3	T	C	6: 121,360,878 (GRCm39)	I993M	probably damaging	Het
Kdm5b	T	A	1: 134,516,484 (GRCm39)		probably benign	Het
Kitl	T	C	10: 99,924,084 (GRCm39)		probably null	Het
Klhl26	G	T	8: 70,905,368 (GRCm39)	R100S	probably benign	Het
Kpna4	C	T	3: 69,000,142 (GRCm39)		probably null	Het
Lama5	T	A	2: 179,844,013 (GRCm39)	N383Y	possibly damaging	Het
Large1	T	G	8: 73,544,724 (GRCm39)	I685L	probably benign	Het
Larp4b	A	G	13: 9,220,773 (GRCm39)	E590G	probably damaging	Het
Liph	A	T	16: 21,774,915 (GRCm39)	C425*	probably null	Het
Lrrc31	A	T	3: 30,739,039 (GRCm39)	C327*	probably null	Het
Lrrc36	T	C	8: 106,190,530 (GRCm39)	V733A	probably benign	Het
Mmel1	T	A	4: 154,966,781 (GRCm39)	I83K	probably benign	Het
Myo16	G	T	8: 10,526,114 (GRCm39)	V885L	probably benign	Het
Naip2	A	T	13: 100,315,948 (GRCm39)	N277K	probably damaging	Het
Ncapg2	T	A	12: 116,391,406 (GRCm39)	I485N	possibly damaging	Het
Npc1l1	A	T	11: 6,174,245 (GRCm39)	Y687N	possibly damaging	Het
Obscn	A	T	11: 59,020,479 (GRCm39)	V922E	probably damaging	Het
Oc90	A	G	15: 65,755,679 (GRCm39)	S223P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a80	A	T	2: 89,582,239 (GRCm39)	L311H	possibly damaging	Het
Or4e1	T	C	14: 52,701,311 (GRCm39)	I52V	probably benign	Het
Pakap	G	T	4: 57,855,912 (GRCm39)	A414S	probably benign	Het
Pdlim5	C	T	3: 142,010,126 (GRCm39)	R174H	probably benign	Het
Pex5l	G	T	3: 33,009,980 (GRCm39)	A386E	probably damaging	Het
Plcxd1	T	A	5: 110,249,229 (GRCm39)		probably benign	Het
Pramel12	T	G	4: 143,145,579 (GRCm39)	S349R	probably benign	Het
Prl8a1	A	T	13: 27,763,802 (GRCm39)		probably null	Het
Ryr2	G	T	13: 11,677,016 (GRCm39)	N3278K	probably benign	Het
Sacm1l	A	G	9: 123,406,090 (GRCm39)	M324V	probably benign	Het
Sdad1	T	C	5: 92,451,793 (GRCm39)	T143A	probably benign	Het
Sema6a	A	G	18: 47,424,239 (GRCm39)	V223A	probably damaging	Het
Serpinb6c	A	G	13: 34,064,080 (GRCm39)	V325A	probably damaging	Het
Slc4a2	G	A	5: 24,635,125 (GRCm39)	A177T	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,428 (GRCm39)	N22D	unknown	Het
Stard13	C	T	5: 150,986,232 (GRCm39)	W308*	probably null	Het
Tanc2	C	T	11: 105,748,379 (GRCm39)	L504F	possibly damaging	Het
Tfap2e	G	T	4: 126,614,337 (GRCm39)	N282K	probably damaging	Het
Usp36	G	T	11: 118,155,731 (GRCm39)	T682K	possibly damaging	Het
Zc3h11a	T	C	1: 133,561,527 (GRCm39)	T315A	probably benign	Het
Zfa-ps	T	A	10: 52,419,118 (GRCm39)		noncoding transcript	Het
Zfp1002	A	T	2: 150,097,410 (GRCm39)	Y34*	probably null	Het
Zfp663	A	T	2: 165,195,590 (GRCm39)	C210S	possibly damaging	Het
Zfp747	T	C	7: 126,973,566 (GRCm39)	I201M	probably damaging	Het
Zic4	C	T	9: 91,266,205 (GRCm39)	T276M	probably damaging	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
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
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'- ATCCACTATGCCATCTCAGC -3'
(R):5'- ATGAGTTCCTAGTGCTTGGTAAC -3'

Sequencing Primer
(F):5'- GCCATCTCAGCACTAGCATTTGAC -3'
(R):5'- GATGCTGTACACTCAATGCCATG -3'

Posted On

2016-06-21