Mutagenetix > Incidental Mutation

Incidental Mutation 'R7192:Sec16b'

559627

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

045333-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157334303-157395995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157357013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 74 (S74P)

Ref Sequence

ENSEMBL: ENSMUSP00000027881 (fasta)

Gene Model

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

AlphaFold

Q91XT4

Predicted Effect

probably benign
Transcript: ENSMUST00000027881
AA Change: S74P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: S74P

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
AA Change: S74P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: S74P

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
AA Change: S74P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: S74P

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (72/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	G	A	2: 30,686,188 (GRCm39)	T329I	probably damaging	Het
Actl6a	C	A	3: 32,774,373 (GRCm39)	P290H	probably damaging	Het
Akap9	T	A	5: 4,055,723 (GRCm39)		probably null	Het
Anxa2r2	T	A	13: 120,488,241 (GRCm39)	K103*	probably null	Het
Bach1	C	T	16: 87,526,551 (GRCm39)	S671L	possibly damaging	Het
Cacna1c	T	C	6: 118,633,210 (GRCm39)	I1099V		Het
Cage1	G	T	13: 38,203,220 (GRCm39)	P615T	probably benign	Het
Caskin2	C	A	11: 115,692,202 (GRCm39)	R861L	probably damaging	Het
Cc2d2b	A	G	19: 40,762,881 (GRCm39)	T386A	unknown	Het
Ccndbp1	A	G	2: 120,843,424 (GRCm39)	D272G	probably damaging	Het
Cep192	T	A	18: 67,983,599 (GRCm39)	V1553E	probably damaging	Het
Cfhr4	T	A	1: 139,667,033 (GRCm39)	H414L	probably damaging	Het
Chrm5	C	T	2: 112,310,672 (GRCm39)	G148D	probably damaging	Het
Cntnap4	T	C	8: 113,608,432 (GRCm39)	V1284A	probably benign	Het
Cpd	T	C	11: 76,705,667 (GRCm39)	Y355C	probably damaging	Het
Csmd3	C	T	15: 47,567,633 (GRCm39)	V1266I		Het
Cyfip2	T	C	11: 46,145,493 (GRCm39)	E609G	probably benign	Het
Dbr1	T	C	9: 99,458,755 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 50,088,920 (GRCm39)	Y2800H	probably damaging	Het
Dnajc6	G	T	4: 101,455,000 (GRCm39)	A64S	probably benign	Het
Dpp8	A	T	9: 64,953,068 (GRCm39)	N248I	possibly damaging	Het
Dsp	A	T	13: 38,379,569 (GRCm39)	I2105F	probably benign	Het
Edem1	G	A	6: 108,805,965 (GRCm39)	V89M	probably benign	Het
Eml4	A	G	17: 83,761,890 (GRCm39)	Q528R	probably benign	Het
Epb42	A	T	2: 120,854,578 (GRCm39)	V669D	unknown	Het
Fat4	A	T	3: 39,034,613 (GRCm39)	Q2755L	probably benign	Het
Gata6	A	G	18: 11,054,475 (GRCm39)	K135E	possibly damaging	Het
Gmeb1	A	T	4: 131,955,201 (GRCm39)	F325I	probably benign	Het
H2-M10.3	C	T	17: 36,677,451 (GRCm39)	E276K	probably damaging	Het
H4c17	A	T	13: 21,996,227 (GRCm39)	K92*	probably null	Het
Ifi207	T	C	1: 173,556,584 (GRCm39)	N718S	not run	Het
Il6st	A	G	13: 112,631,741 (GRCm39)	N427D	probably benign	Het
Kat7	T	A	11: 95,166,656 (GRCm39)	M509L	probably benign	Het
Klk1b4	T	C	7: 43,859,045 (GRCm39)	V21A	probably benign	Het
Malt1	T	A	18: 65,570,898 (GRCm39)	L78Q	probably benign	Het
Mertk	A	G	2: 128,635,028 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,796,376 (GRCm39)	L1016P	probably damaging	Het
Neu4	A	G	1: 93,952,863 (GRCm39)	I411V	probably benign	Het
Nutm2	A	T	13: 50,627,105 (GRCm39)	D420V	probably damaging	Het
Or10j3b	T	A	1: 173,043,575 (GRCm39)	M119K	probably damaging	Het
Or2w2	A	G	13: 21,758,539 (GRCm39)	L29P	probably damaging	Het
Or4k1	T	C	14: 50,377,577 (GRCm39)	E173G	possibly damaging	Het
Or5ac24	T	C	16: 59,165,542 (GRCm39)	D174G	probably benign	Het
Pcdha12	C	T	18: 37,153,316 (GRCm39)	R12W	probably benign	Het
Pdgfra	G	T	5: 75,343,767 (GRCm39)	D763Y	probably damaging	Het
Pkd2	T	C	5: 104,634,523 (GRCm39)	V518A	probably benign	Het
Prb1a	G	T	6: 132,184,335 (GRCm39)	P433T	unknown	Het
Ptrh2	A	G	11: 86,580,835 (GRCm39)	T151A	probably damaging	Het
Qars1	T	A	9: 108,388,760 (GRCm39)	N273K	probably damaging	Het
Robo2	T	C	16: 73,717,638 (GRCm39)	Y1154C	probably benign	Het
Rps6kc1	T	A	1: 190,532,556 (GRCm39)	D482V	probably damaging	Het
Serpinb2	A	T	1: 107,452,306 (GRCm39)	I295F	probably damaging	Het
Sh3pxd2b	T	A	11: 32,364,318 (GRCm39)	D301E	probably damaging	Het
Sipa1l2	G	A	8: 126,149,348 (GRCm39)	T1637I	probably benign	Het
Slc27a4	A	T	2: 29,695,941 (GRCm39)	N159Y	probably damaging	Het
Stat1	A	C	1: 52,174,780 (GRCm39)	K161Q	possibly damaging	Het
Stc2	T	C	11: 31,319,872 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,522,651 (GRCm39)	W681R	possibly damaging	Het
Sv2a	G	A	3: 96,101,062 (GRCm39)	G687S	probably damaging	Het
Thnsl2	C	T	6: 71,116,739 (GRCm39)	V138I	probably benign	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tnfrsf1a	T	C	6: 125,338,559 (GRCm39)	S235P	unknown	Het
Tpbg	T	A	9: 85,726,085 (GRCm39)	L18*	probably null	Het
Trabd2b	A	T	4: 114,467,217 (GRCm39)	Q482L	possibly damaging	Het
Trim35	T	A	14: 66,534,895 (GRCm39)	F126Y	probably damaging	Het
Ttn	A	T	2: 76,658,288 (GRCm39)	V12364D	unknown	Het
Ubac2	A	G	14: 122,211,128 (GRCm39)	Y166C	probably damaging	Het
Unc13b	T	A	4: 43,258,519 (GRCm39)	V1320D	probably damaging	Het
Usp34	T	A	11: 23,410,571 (GRCm39)	Y2693N		Het
Utp20	A	T	10: 88,608,321 (GRCm39)	M1572K	probably benign	Het
Vmn1r7	C	T	6: 57,001,452 (GRCm39)	M269I	probably benign	Het
Vmn2r3	C	T	3: 64,167,364 (GRCm39)	G589D	probably benign	Het
Vrtn	A	T	12: 84,695,636 (GRCm39)	M129L	probably damaging	Het
Zfp273	A	T	13: 67,973,183 (GRCm39)	T104S	possibly damaging	Het
Zfp384	T	A	6: 125,010,275 (GRCm39)	N390K	probably damaging	Het
Znfx1	A	G	2: 166,884,110 (GRCm39)	M933T	probably benign	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
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
R7404:Sec16b	UTSW	1	157,358,927 (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'- ACGGGACCATCAAGGGATACA -3'
(R):5'- GGCAGATTTTATCTAAGGGTGTCTTG -3'

Sequencing Primer
(F):5'- TCAAGGGATACAAATAGAGGACTTC -3'
(R):5'- GGCCATGGTATTTTATCACAGC -3'

Posted On

2019-06-26