Mutagenetix > Incidental Mutation

Incidental Mutation 'R7404:Sec16b'

574391

Institutional Source

Beutler Lab

Gene Symbol

Sec16b

Ensembl Gene

ENSMUSG00000026589

Gene Name

SEC16 homolog B, endoplasmic reticulum export factor

Synonyms

Lztr2, Rgpr, Rgpr-p117

MMRRC Submission

045486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157334303-157395995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157358927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 120 (Y120C)

Ref Sequence

ENSEMBL: ENSMUSP00000027881 (fasta)

Gene Model

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

AlphaFold

Q91XT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027881
AA Change: Y120C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: Y120C

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 damaging
Transcript: ENSMUST00000086130
AA Change: Y120C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: Y120C

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 damaging
Transcript: ENSMUST00000111700
AA Change: Y120C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: Y120C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,955,099 (GRCm39)	A297T	probably damaging	Het
Adprhl1	T	A	8: 13,275,118 (GRCm39)	S547C	probably damaging	Het
Ankrd63	G	C	2: 118,533,793 (GRCm39)	R43G	unknown	Het
Asah2	T	C	19: 32,035,254 (GRCm39)	T24A	probably benign	Het
Asb17	G	A	3: 153,550,447 (GRCm39)		probably null	Het
Atp8b5	C	T	4: 43,342,640 (GRCm39)	T437I	probably benign	Het
Bbs2	T	C	8: 94,808,992 (GRCm39)	D311G	probably damaging	Het
Birc6	C	T	17: 74,946,789 (GRCm39)	T2851I	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cchcr1	T	C	17: 35,835,693 (GRCm39)	W266R	probably benign	Het
Col14a1	C	A	15: 55,252,024 (GRCm39)	S560*	probably null	Het
Crocc	G	A	4: 140,753,497 (GRCm39)	T1317M	possibly damaging	Het
Cxxc1	T	A	18: 74,352,278 (GRCm39)	V334E	possibly damaging	Het
Cyp3a25	T	A	5: 145,923,635 (GRCm39)	D336V	probably damaging	Het
Dapk1	A	G	13: 60,867,455 (GRCm39)	T221A	probably benign	Het
Dnah11	G	T	12: 118,068,543 (GRCm39)	T1605K	probably benign	Het
Dnah7c	T	C	1: 46,705,223 (GRCm39)	V2412A	possibly damaging	Het
Ect2l	T	A	10: 18,035,529 (GRCm39)	D524V	probably damaging	Het
Ehbp1l1	T	C	19: 5,770,872 (GRCm39)	E223G	possibly damaging	Het
Ephb2	A	T	4: 136,498,524 (GRCm39)	M185K	probably damaging	Het
Fcer1a	T	C	1: 173,049,083 (GRCm39)	K243E	probably damaging	Het
Fcgbp	T	A	7: 27,800,932 (GRCm39)	I1326N	probably damaging	Het
Fgfr1	T	C	8: 26,045,566 (GRCm39)	V45A	probably benign	Het
Filip1	T	A	9: 79,727,380 (GRCm39)	E413V	possibly damaging	Het
Frs3	T	C	17: 48,013,651 (GRCm39)		probably null	Het
Fstl4	A	G	11: 53,024,898 (GRCm39)	T257A	probably benign	Het
Golga5	A	T	12: 102,450,778 (GRCm39)	K477M	probably damaging	Het
Gpr171	A	T	3: 59,005,622 (GRCm39)	I51K	probably damaging	Het
H1f0	T	A	15: 78,913,080 (GRCm39)	Y53*	probably null	Het
Hephl1	A	G	9: 14,981,047 (GRCm39)	V795A	possibly damaging	Het
Hmcn1	A	T	1: 150,596,510 (GRCm39)	D1775E	probably benign	Het
Hs3st2	A	G	7: 121,100,168 (GRCm39)	D338G	possibly damaging	Het
Hsd3b6	T	A	3: 98,713,534 (GRCm39)	Y255F	probably benign	Het
Hspa9	T	C	18: 35,076,329 (GRCm39)	N328D	possibly damaging	Het
Hvcn1	T	A	5: 122,375,748 (GRCm39)	I100N	probably damaging	Het
Ifi207	C	T	1: 173,556,494 (GRCm39)	S748N	possibly damaging	Het
Katnip	A	T	7: 125,464,434 (GRCm39)	N1267I	probably damaging	Het
Kcnma1	G	T	14: 24,052,902 (GRCm39)	T180K	unknown	Het
Kctd16	A	G	18: 40,391,826 (GRCm39)	D138G	probably damaging	Het
Kifc3	A	G	8: 95,830,092 (GRCm39)	Y605H	probably benign	Het
Kmt2d	T	A	15: 98,743,376 (GRCm39)	Q3928L	unknown	Het
Lamb2	C	T	9: 108,364,782 (GRCm39)	R1179C	probably damaging	Het
Layn	T	A	9: 50,968,670 (GRCm39)	I358F	possibly damaging	Het
Lrig1	G	A	6: 94,603,452 (GRCm39)	T232M	probably damaging	Het
Lrp1	T	C	10: 127,418,577 (GRCm39)	T38A		Het
Map3k14	A	G	11: 103,129,918 (GRCm39)	V333A	probably benign	Het
Med13	T	C	11: 86,177,272 (GRCm39)	D1608G	possibly damaging	Het
Mrps31	T	G	8: 22,911,429 (GRCm39)	S224A	probably benign	Het
Msh6	G	T	17: 88,282,548 (GRCm39)			Het
Ncapd3	A	G	9: 26,978,315 (GRCm39)	D838G	probably benign	Het
Nlrp1a	C	A	11: 70,987,919 (GRCm39)	E1184*	probably null	Het
Npat	T	A	9: 53,466,233 (GRCm39)		probably null	Het
Nup210	A	T	6: 91,050,227 (GRCm39)	I414N	probably benign	Het
Or1e19	A	T	11: 73,316,419 (GRCm39)	L130H	probably damaging	Het
Or52n2	A	T	7: 104,542,181 (GRCm39)	V218E	possibly damaging	Het
Or5b122	T	A	19: 13,562,752 (GRCm39)	I28N	possibly damaging	Het
Or5h19	T	C	16: 58,856,603 (GRCm39)	T166A	possibly damaging	Het
Or6z5	T	C	7: 6,477,163 (GRCm39)	L18P	probably damaging	Het
Or8b12c	A	T	9: 37,715,257 (GRCm39)	T17S	possibly damaging	Het
Or8h7	A	C	2: 86,721,217 (GRCm39)	L101V	probably benign	Het
Otud7b	G	C	3: 96,043,936 (GRCm39)		probably null	Het
Phf11d	A	C	14: 59,596,942 (GRCm39)	W86G	probably benign	Het
Pik3c2b	T	A	1: 133,018,444 (GRCm39)	S964T	probably damaging	Het
Pira1	T	C	7: 3,742,344 (GRCm39)	Y61C	probably damaging	Het
Plod3	G	A	5: 137,023,901 (GRCm39)	V687I	probably benign	Het
Poglut1	T	G	16: 38,358,284 (GRCm39)	Y208S	possibly damaging	Het
Pou1f1	T	A	16: 65,330,749 (GRCm39)	L253H	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Rhbdl3	C	T	11: 80,237,659 (GRCm39)	S297L	probably damaging	Het
Rxra	A	T	2: 27,631,866 (GRCm39)	N179I	probably damaging	Het
Ryr2	C	T	13: 11,750,506 (GRCm39)	E1922K	probably damaging	Het
Scube1	T	C	15: 83,499,211 (GRCm39)	Y668C	probably damaging	Het
Sec61b	G	T	4: 47,483,047 (GRCm39)	K92N	probably damaging	Het
Skic3	T	A	13: 76,296,866 (GRCm39)	Y1074*	probably null	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc17a7	T	A	7: 44,822,354 (GRCm39)	Y397N	probably benign	Het
Slc25a3	A	G	10: 90,952,902 (GRCm39)	V333A	possibly damaging	Het
Slc7a8	A	T	14: 54,964,283 (GRCm39)	V390E	probably damaging	Het
Sorbs2	G	A	8: 46,212,233 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,621,650 (GRCm39)	N948D	probably benign	Het
Tacc2	A	T	7: 130,225,066 (GRCm39)	T584S	probably benign	Het
Tec	A	T	5: 72,920,961 (GRCm39)	D471E	probably damaging	Het
Tecpr2	C	T	12: 110,898,038 (GRCm39)	A430V	probably benign	Het
Tmcc2	A	T	1: 132,288,759 (GRCm39)	D309E	probably damaging	Het
Tmem82	G	A	4: 141,344,742 (GRCm39)	A67V	possibly damaging	Het
Ttc23l	T	C	15: 10,551,663 (GRCm39)	Q21R	probably damaging	Het
Ubl3	A	G	5: 148,448,764 (GRCm39)	F26L	probably damaging	Het
Upf2	A	G	2: 6,045,014 (GRCm39)	E1088G	unknown	Het
Usp9y	T	A	Y: 1,341,780 (GRCm39)	I1362F	probably benign	Het
Wnk4	T	A	11: 101,159,318 (GRCm39)		probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfc3h1	T	A	10: 115,251,153 (GRCm39)	V1248D	probably damaging	Het
Zfp12	T	A	5: 143,226,099 (GRCm39)	V56D	probably damaging	Het

Other mutations in Sec16b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Sec16b	APN	1	157,365,900 (GRCm39)	missense	probably damaging	1.00
IGL00645:Sec16b	APN	1	157,394,289 (GRCm39)	missense	probably damaging	1.00
IGL00763:Sec16b	APN	1	157,356,827 (GRCm39)	missense	probably benign	0.00
IGL00822:Sec16b	APN	1	157,392,125 (GRCm39)	missense	probably benign	0.05
IGL02225:Sec16b	APN	1	157,359,614 (GRCm39)	unclassified	probably benign
IGL02746:Sec16b	APN	1	157,373,859 (GRCm39)	splice site	probably benign
IGL03031:Sec16b	APN	1	157,388,369 (GRCm39)	missense	probably benign
IGL03117:Sec16b	APN	1	157,362,970 (GRCm39)	missense	probably damaging	1.00
IGL03193:Sec16b	APN	1	157,362,963 (GRCm39)	missense	probably benign	0.01
R0206:Sec16b	UTSW	1	157,380,505 (GRCm39)	nonsense	probably null
R0208:Sec16b	UTSW	1	157,380,505 (GRCm39)	nonsense	probably null
R0349:Sec16b	UTSW	1	157,359,746 (GRCm39)	splice site	probably null
R0433:Sec16b	UTSW	1	157,362,279 (GRCm39)	nonsense	probably null
R0537:Sec16b	UTSW	1	157,365,116 (GRCm39)	missense	possibly damaging	0.91
R0593:Sec16b	UTSW	1	157,359,718 (GRCm39)	missense	probably benign	0.03
R0629:Sec16b	UTSW	1	157,392,433 (GRCm39)	unclassified	probably benign
R1028:Sec16b	UTSW	1	157,388,487 (GRCm39)	missense	probably benign	0.03
R1119:Sec16b	UTSW	1	157,392,404 (GRCm39)	missense	possibly damaging	0.93
R1835:Sec16b	UTSW	1	157,358,882 (GRCm39)	missense	probably benign	0.00
R1894:Sec16b	UTSW	1	157,380,545 (GRCm39)	missense	possibly damaging	0.90
R2307:Sec16b	UTSW	1	157,363,062 (GRCm39)	missense	probably damaging	1.00
R3438:Sec16b	UTSW	1	157,384,328 (GRCm39)	splice site	probably benign
R4788:Sec16b	UTSW	1	157,389,094 (GRCm39)	missense	possibly damaging	0.77
R5109:Sec16b	UTSW	1	157,392,361 (GRCm39)	nonsense	probably null
R5235:Sec16b	UTSW	1	157,362,334 (GRCm39)	missense	probably benign	0.00
R5942:Sec16b	UTSW	1	157,358,920 (GRCm39)	missense	probably damaging	1.00
R6034:Sec16b	UTSW	1	157,380,509 (GRCm39)	missense	probably damaging	1.00
R6034:Sec16b	UTSW	1	157,380,509 (GRCm39)	missense	probably damaging	1.00
R6081:Sec16b	UTSW	1	157,388,324 (GRCm39)	missense	probably benign
R7026:Sec16b	UTSW	1	157,362,281 (GRCm39)	missense	possibly damaging	0.80
R7192:Sec16b	UTSW	1	157,357,013 (GRCm39)	missense	probably benign	0.00
R7270:Sec16b	UTSW	1	157,392,033 (GRCm39)	missense	probably damaging	1.00
R7270:Sec16b	UTSW	1	157,392,032 (GRCm39)	missense	probably damaging	1.00
R7494:Sec16b	UTSW	1	157,388,369 (GRCm39)	missense	probably benign
R7570:Sec16b	UTSW	1	157,358,965 (GRCm39)	splice site	probably null
R7747:Sec16b	UTSW	1	157,393,042 (GRCm39)	missense	possibly damaging	0.69
R7751:Sec16b	UTSW	1	157,385,630 (GRCm39)	missense	probably damaging	1.00
R7797:Sec16b	UTSW	1	157,389,245 (GRCm39)	missense	unknown
R7913:Sec16b	UTSW	1	157,356,899 (GRCm39)	missense	probably benign	0.00
R7943:Sec16b	UTSW	1	157,382,327 (GRCm39)	missense	probably benign
R8176:Sec16b	UTSW	1	157,362,981 (GRCm39)	missense	probably damaging	1.00
R8891:Sec16b	UTSW	1	157,382,409 (GRCm39)	missense	probably damaging	1.00
R9080:Sec16b	UTSW	1	157,393,300 (GRCm39)	missense	probably benign	0.09
R9263:Sec16b	UTSW	1	157,359,748 (GRCm39)	unclassified	probably benign
R9290:Sec16b	UTSW	1	157,373,816 (GRCm39)	missense	probably damaging	1.00
R9388:Sec16b	UTSW	1	157,388,393 (GRCm39)	missense	probably benign	0.01
R9430:Sec16b	UTSW	1	157,394,894 (GRCm39)	missense	probably damaging	1.00
R9522:Sec16b	UTSW	1	157,392,335 (GRCm39)	missense	probably damaging	1.00
R9706:Sec16b	UTSW	1	157,378,695 (GRCm39)	critical splice donor site	probably null
Z1088:Sec16b	UTSW	1	157,385,594 (GRCm39)	splice site	probably null
Z1176:Sec16b	UTSW	1	157,378,639 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCAGATTCTGGACTAGG -3'
(R):5'- AGAACCTTTGCCACAGGAAAG -3'

Sequencing Primer
(F):5'- GCAGTCGTTCTGTCTTCTGAAG -3'
(R):5'- TGGATGAAGTATGCACTATCCACAG -3'

Posted On

2019-09-13