Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Sec16b'

57731

Institutional Source

Beutler Lab

Gene Symbol

Sec16b

Ensembl Gene

ENSMUSG00000026589

Gene Name

SEC16 homolog B (S. cerevisiae)

Synonyms

Rgpr, Lztr2, Rgpr-p117

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0629 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157506728-157568425 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 157564863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027881] [ENSMUST00000086130] [ENSMUST00000111700] [ENSMUST00000146873]

AlphaFold

Q91XT4

Predicted Effect

probably benign
Transcript: ENSMUST00000027881

SMART Domains

Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589

Domain	Start	End	E-Value	Type
low complexity region	212	232	N/A	INTRINSIC
Pfam:Sec16	270	371	1.7e-19	PFAM
Pfam:Sec16_C	436	681	1e-38	PFAM
low complexity region	795	810	N/A	INTRINSIC
low complexity region	858	876	N/A	INTRINSIC
low complexity region	900	909	N/A	INTRINSIC
low complexity region	915	963	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086130

SMART Domains

Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589

Domain	Start	End	E-Value	Type
low complexity region	212	232	N/A	INTRINSIC
Pfam:Sec16	271	370	4.8e-8	PFAM
Pfam:Sec16_C	437	677	2.2e-45	PFAM
low complexity region	795	810	N/A	INTRINSIC
low complexity region	858	876	N/A	INTRINSIC
low complexity region	900	909	N/A	INTRINSIC
low complexity region	915	963	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111700

SMART Domains

Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589

Domain	Start	End	E-Value	Type
low complexity region	212	232	N/A	INTRINSIC
Pfam:Sec16	270	371	1.7e-19	PFAM
Pfam:Sec16_C	436	681	1e-38	PFAM
low complexity region	795	810	N/A	INTRINSIC
low complexity region	858	876	N/A	INTRINSIC
low complexity region	900	909	N/A	INTRINSIC
low complexity region	915	963	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146873

SMART Domains

Protein: ENSMUSP00000119359
Gene: ENSMUSG00000026589

Domain	Start	End	E-Value	Type
low complexity region	23	43	N/A	INTRINSIC
Pfam:Sec16	81	182	9.4e-20	PFAM
Pfam:Sec16_C	247	492	4.8e-39	PFAM
low complexity region	606	621	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,507,547	D86V	probably damaging	Het
Adamts14	G	A	10: 61,211,624	Q733*	probably null	Het
Adcy10	A	G	1: 165,543,105	D651G	probably damaging	Het
Apcdd1	T	A	18: 62,933,970	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,333,426	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,620,434	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,409,543	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,140,768	M325R	possibly damaging	Het
Clca2	T	A	3: 145,072,239	M762L	probably benign	Het
Cntn3	C	T	6: 102,203,976	V753M	probably damaging	Het
Col6a6	A	T	9: 105,727,165		probably benign	Het
Dscaml1	A	G	9: 45,721,418	D1194G	probably damaging	Het
Egfr	G	A	11: 16,869,333	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,471,414	N19K	probably damaging	Het
Fmo3	A	G	1: 162,958,227		probably benign	Het
Frmd6	T	C	12: 70,883,762	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,925,644	V193A	possibly damaging	Het
Gm1141	G	C	X: 71,938,773	R296P	possibly damaging	Het
Gm7461	C	T	8: 4,677,769		noncoding transcript	Het
Gpc5	T	A	14: 115,552,239	N508K	possibly damaging	Het
Iqch	A	T	9: 63,425,382	D1019E	probably benign	Het
Isyna1	A	G	8: 70,594,708	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,202,481	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,027,572	P57L	probably benign	Het
Kcns3	A	C	12: 11,092,558	C47G	probably damaging	Het
Kif21b	A	T	1: 136,172,157		probably null	Het
Lama3	A	T	18: 12,419,245	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,788,302	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,638,252	D356V	probably damaging	Het
Morc2b	A	G	17: 33,135,807	M997T	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,338,142	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,793,421	T529A	possibly damaging	Het
Myo7a	A	C	7: 98,085,466	L607R	probably damaging	Het
Myom2	T	A	8: 15,069,783	F180I	probably damaging	Het
Myt1l	G	A	12: 29,811,485	E89K	unknown	Het
Nek2	A	G	1: 191,831,317	N431S	probably benign	Het
Olfr1086	T	A	2: 86,676,529	H268L	possibly damaging	Het
Olfr169	A	T	16: 19,565,980	V301E	possibly damaging	Het
Oprm1	A	T	10: 6,832,604		probably null	Het
Oxsr1	A	G	9: 119,241,784		probably benign	Het
Pdgfrb	G	A	18: 61,078,648		probably null	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Ptgs2	A	G	1: 150,101,037	Q7R	probably benign	Het
Rab3d	A	G	9: 21,914,686	V144A	probably benign	Het
Ralgapb	T	A	2: 158,439,547	L167H	probably damaging	Het
Ranbp3	A	G	17: 56,708,200	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,984,269	V587M	probably damaging	Het
Sin3b	T	C	8: 72,753,536		probably benign	Het
Slc10a2	T	C	8: 5,098,562	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,210,401	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896		probably null	Het
Trak1	A	T	9: 121,367,167	T22S	probably benign	Het
Trim30d	A	G	7: 104,487,655	I114T	probably damaging	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Ttn	T	C	2: 76,828,130		probably benign	Het
Vipr1	T	A	9: 121,660,171	Y99*	probably null	Het
Vmn1r210	T	C	13: 22,827,874	K81E	probably damaging	Het
Wwc1	T	C	11: 35,853,472	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,000,905		probably benign	Het
Zdhhc22	A	T	12: 86,988,297	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,088,046	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,885,595	L18I	probably damaging	Het

Other mutations in Sec16b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Sec16b	APN	1	157538330	missense	probably damaging	1.00
IGL00645:Sec16b	APN	1	157566719	missense	probably damaging	1.00
IGL00763:Sec16b	APN	1	157529257	missense	probably benign	0.00
IGL00822:Sec16b	APN	1	157564555	missense	probably benign	0.05
IGL02225:Sec16b	APN	1	157532044	unclassified	probably benign
IGL02746:Sec16b	APN	1	157546289	splice site	probably benign
IGL03031:Sec16b	APN	1	157560799	missense	probably benign
IGL03117:Sec16b	APN	1	157535400	missense	probably damaging	1.00
IGL03193:Sec16b	APN	1	157535393	missense	probably benign	0.01
R0206:Sec16b	UTSW	1	157552935	nonsense	probably null
R0208:Sec16b	UTSW	1	157552935	nonsense	probably null
R0349:Sec16b	UTSW	1	157532176	splice site	probably null
R0433:Sec16b	UTSW	1	157534709	nonsense	probably null
R0537:Sec16b	UTSW	1	157537546	missense	possibly damaging	0.91
R0593:Sec16b	UTSW	1	157532148	missense	probably benign	0.03
R1028:Sec16b	UTSW	1	157560917	missense	probably benign	0.03
R1119:Sec16b	UTSW	1	157564834	missense	possibly damaging	0.93
R1835:Sec16b	UTSW	1	157531312	missense	probably benign	0.00
R1894:Sec16b	UTSW	1	157552975	missense	possibly damaging	0.90
R2307:Sec16b	UTSW	1	157535492	missense	probably damaging	1.00
R3438:Sec16b	UTSW	1	157556758	splice site	probably benign
R4788:Sec16b	UTSW	1	157561524	missense	possibly damaging	0.77
R5109:Sec16b	UTSW	1	157564791	nonsense	probably null
R5235:Sec16b	UTSW	1	157534764	missense	probably benign	0.00
R5942:Sec16b	UTSW	1	157531350	missense	probably damaging	1.00
R6034:Sec16b	UTSW	1	157552939	missense	probably damaging	1.00
R6034:Sec16b	UTSW	1	157552939	missense	probably damaging	1.00
R6081:Sec16b	UTSW	1	157560754	missense	probably benign
R7026:Sec16b	UTSW	1	157534711	missense	possibly damaging	0.80
R7192:Sec16b	UTSW	1	157529443	missense	probably benign	0.00
R7270:Sec16b	UTSW	1	157564462	missense	probably damaging	1.00
R7270:Sec16b	UTSW	1	157564463	missense	probably damaging	1.00
R7404:Sec16b	UTSW	1	157531357	missense	probably damaging	1.00
R7494:Sec16b	UTSW	1	157560799	missense	probably benign
R7570:Sec16b	UTSW	1	157531395	splice site	probably null
R7747:Sec16b	UTSW	1	157565472	missense	possibly damaging	0.69
R7751:Sec16b	UTSW	1	157558060	missense	probably damaging	1.00
R7797:Sec16b	UTSW	1	157561675	missense	unknown
R7913:Sec16b	UTSW	1	157529329	missense	probably benign	0.00
R7943:Sec16b	UTSW	1	157554757	missense	probably benign
R8176:Sec16b	UTSW	1	157535411	missense	probably damaging	1.00
R8891:Sec16b	UTSW	1	157554839	missense	probably damaging	1.00
R9080:Sec16b	UTSW	1	157565730	missense	probably benign	0.09
R9263:Sec16b	UTSW	1	157532178	unclassified	probably benign
R9290:Sec16b	UTSW	1	157546246	missense	probably damaging	1.00
R9388:Sec16b	UTSW	1	157560823	missense	probably benign	0.01
R9430:Sec16b	UTSW	1	157567324	missense	probably damaging	1.00
R9522:Sec16b	UTSW	1	157564765	missense	probably damaging	1.00
R9706:Sec16b	UTSW	1	157551125	critical splice donor site	probably null
Z1088:Sec16b	UTSW	1	157558024	splice site	probably null
Z1176:Sec16b	UTSW	1	157551069	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTCAAACAGCAGTGCAGTCC -3'
(R):5'- CATGCGTCCCGGTATCCACAATAG -3'

Sequencing Primer
(F):5'- AGTGCAGTCCAAAGCCCTG -3'
(R):5'- tcctcctgcctcagcatc -3'

Posted On

2013-07-11