Mutagenetix > Incidental Mutation

Incidental Mutation 'R8799:Sec11a'

671437

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

R8799 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80565125-80597295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80584850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 29 (V29A)

Ref Sequence

ENSEMBL: ENSMUSP00000026818 (fasta)

Gene Model

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

AlphaFold

Q9R0P6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026818
AA Change: V29A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026818
Gene: ENSMUSG00000025724
AA Change: V29A

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

possibly damaging
Transcript: ENSMUST00000117383
AA Change: V29A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113601
Gene: ENSMUSG00000025724
AA Change: V29A

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

possibly damaging
Transcript: ENSMUST00000119980
AA Change: V29A

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112425
Gene: ENSMUSG00000025724
AA Change: V29A

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 damaging
Transcript: ENSMUST00000120285
AA Change: V29A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112944
Gene: ENSMUSG00000025724
AA Change: V29A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (57/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,331,578 (GRCm39)	C134S	probably damaging	Het
Acox3	T	G	5: 35,747,052 (GRCm39)	F156L	probably damaging	Het
Adprhl1	T	C	8: 13,272,474 (GRCm39)	E1428G	probably benign	Het
Arhgap40	A	T	2: 158,354,758 (GRCm39)	M15L	probably benign	Het
Bahcc1	C	A	11: 120,177,173 (GRCm39)	F2020L	probably damaging	Het
BC024063	A	T	10: 81,945,352 (GRCm39)	H324L	probably benign	Het
Ccdc40	C	A	11: 119,155,292 (GRCm39)	S1177R	probably benign	Het
Ccne2	A	T	4: 11,201,355 (GRCm39)	R294S	probably benign	Het
Cib1	A	C	7: 79,882,291 (GRCm39)	S6R	probably damaging	Het
Csnk2a1	A	G	2: 152,099,886 (GRCm39)	E114G	probably damaging	Het
Cxxc1	A	G	18: 74,354,128 (GRCm39)		probably benign	Het
Decr2	A	C	17: 26,307,911 (GRCm39)	I47M	possibly damaging	Het
Dmxl2	A	G	9: 54,327,027 (GRCm39)		probably null	Het
Dse	G	A	10: 34,060,149 (GRCm39)		probably benign	Het
Eml6	A	G	11: 29,708,981 (GRCm39)	V1480A	probably benign	Het
Erap1	A	G	13: 74,805,755 (GRCm39)	I165M	probably benign	Het
Fan1	G	T	7: 64,016,406 (GRCm39)	Q573K	probably damaging	Het
Fndc3a	G	A	14: 72,793,955 (GRCm39)	T906I	probably benign	Het
Gm21915	A	C	9: 40,582,006 (GRCm39)	H33P	possibly damaging	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Lama3	G	T	18: 12,624,000 (GRCm39)	Q1384H	probably damaging	Het
Lrrc34	C	T	3: 30,678,979 (GRCm39)	E373K	probably benign	Het
Ly75	A	G	2: 60,178,785 (GRCm39)	F677L	probably damaging	Het
Megf11	A	G	9: 64,588,673 (GRCm39)	D493G	probably benign	Het
Mta3	A	T	17: 84,096,369 (GRCm39)	I348F	possibly damaging	Het
Myo1d	A	T	11: 80,575,205 (GRCm39)	F170L	probably damaging	Het
Nfkbia	A	G	12: 55,539,083 (GRCm39)		probably benign	Het
Nfx1	A	T	4: 41,023,727 (GRCm39)	E1045D	probably damaging	Het
Npffr2	T	G	5: 89,731,177 (GRCm39)	V369G	probably benign	Het
Or14c44	T	C	7: 86,061,854 (GRCm39)	C95R	probably damaging	Het
Or4d5	A	T	9: 40,011,985 (GRCm39)	M267K	possibly damaging	Het
Or4f59	A	T	2: 111,872,528 (GRCm39)	I283N	probably damaging	Het
Or5t18	A	T	2: 86,636,575 (GRCm39)	M256K	probably damaging	Het
Or5w13	G	T	2: 87,524,057 (GRCm39)	H56Q	possibly damaging	Het
Otoa	G	A	7: 120,691,894 (GRCm39)	E41K	possibly damaging	Het
Podxl	A	G	6: 31,501,400 (GRCm39)	V385A	probably damaging	Het
Ppp4r4	C	T	12: 103,567,623 (GRCm39)	T673M	possibly damaging	Het
Rbm20	G	T	19: 53,821,120 (GRCm39)	C525F	probably damaging	Het
Rnf17	A	T	14: 56,737,886 (GRCm39)	E1222D	probably damaging	Het
Ros1	G	A	10: 51,922,143 (GRCm39)	A2331V	probably benign	Het
Rrs1	T	A	1: 9,615,819 (GRCm39)	I24N	probably damaging	Het
Shisa3	T	A	5: 67,768,749 (GRCm39)	Y216*	probably null	Het
Slc22a2	A	T	17: 12,831,425 (GRCm39)	Y405F	probably benign	Het
Slc2a12	A	T	10: 22,568,105 (GRCm39)	M511L	possibly damaging	Het
Slc38a9	T	A	13: 112,840,136 (GRCm39)	H338Q	probably damaging	Het
Slco1c1	T	G	6: 141,505,531 (GRCm39)	S486A	probably benign	Het
Slit2	T	C	5: 48,461,524 (GRCm39)	S1524P	possibly damaging	Het
Spata31d1c	T	C	13: 65,184,140 (GRCm39)	S561P	possibly damaging	Het
Stac3	T	A	10: 127,340,781 (GRCm39)	M182K	probably damaging	Het
Stt3b	T	C	9: 115,077,685 (GRCm39)	E689G	probably damaging	Het
Suclg1	A	G	6: 73,248,091 (GRCm39)	K271E	probably benign	Het
Tas1r1	A	G	4: 152,116,708 (GRCm39)	Y309H	probably benign	Het
Tbc1d5	TGC	TGCCGC	17: 51,106,969 (GRCm39)		probably benign	Het
Tbc1d5	TG	TGCGG	17: 51,106,978 (GRCm39)		probably benign	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tbc1d5	TGC	TGCGGC	17: 51,106,963 (GRCm39)		probably benign	Het
Tmem101	A	G	11: 102,044,336 (GRCm39)	F184L	probably benign	Het
Zfp474	A	G	18: 52,772,166 (GRCm39)	Q273R	probably benign	Het
Zfyve28	A	G	5: 34,390,670 (GRCm39)	L197P	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
R5135:Sec11a	UTSW	7	80,572,812 (GRCm39)	intron	probably benign
R6362:Sec11a	UTSW	7	80,572,879 (GRCm39)	missense	probably benign	0.02
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'- TTCTAAGGAGCTGGTACACAAC -3'
(R):5'- CCTGATGATGATGGTCTGTTTGC -3'

Sequencing Primer
(F):5'- AGGAGCTGGTACACAACTATTTAC -3'
(R):5'- CCATCTTGTAACGGCGAATG -3'

Posted On

2021-04-30