Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Sec16b'

205131

Institutional Source

Beutler Lab

Gene Symbol

Sec16b

Ensembl Gene

ENSMUSG00000026589

Gene Name

SEC16 homolog B (S. cerevisiae)

Synonyms

Rgpr, Lztr2, Rgpr-p117

MMRRC Submission

039862-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

157506728-157568425 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157531312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 105 (H105R)

Ref Sequence

ENSEMBL: ENSMUSP00000107329 (fasta)

Gene Model

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

AlphaFold

Q91XT4

Predicted Effect

probably benign
Transcript: ENSMUST00000027881
AA Change: H105R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027881
Gene: ENSMUSG00000026589
AA Change: H105R

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: H105R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000083300
Gene: ENSMUSG00000026589
AA Change: H105R

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: H105R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107329
Gene: ENSMUSG00000026589
AA Change: H105R

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: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

Validation Efficiency

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	T	11: 78,287,750	V1993F	probably damaging	Het
4933425L06Rik	C	A	13: 105,082,194	A12E	unknown	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adam4	T	C	12: 81,419,559	I763V	probably benign	Het
Aipl1	T	G	11: 72,030,499	K190T	possibly damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,099,414	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,447,618	S365R	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Apc	T	A	18: 34,317,077	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,778,883	V501I	probably benign	Het
Baz2b	T	C	2: 59,901,819	E1994G	probably benign	Het
Cacna1a	T	C	8: 84,581,357		probably null	Het
Cacna1h	C	A	17: 25,392,076	V583L	probably benign	Het
Cd55	T	C	1: 130,447,609		probably benign	Het
Cep192	T	A	18: 67,804,424	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,962,375	D1674V	probably benign	Het
Churc1	T	C	12: 76,773,297	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,848,543	I280T	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cyp2b9	A	G	7: 26,200,783	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813	R51G	probably damaging	Het
Ddb1	T	C	19: 10,626,593	V888A	probably damaging	Het
Disp1	A	G	1: 183,089,000	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,388,334	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,482,868	T143A	possibly damaging	Het
Eps8	T	A	6: 137,522,279	K204*	probably null	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Ergic2	T	A	6: 148,189,581	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,490,711	L274M	probably damaging	Het
Fat3	G	A	9: 15,998,088	T2206I	probably damaging	Het
Fat4	A	G	3: 38,983,571	I3791V	probably benign	Het
Gemin4	A	G	11: 76,213,296	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,118,407	M119V	probably benign	Het
Heatr5b	A	T	17: 78,773,563	L1420Q	probably damaging	Het
Herc2	G	T	7: 56,206,765	G3918*	probably null	Het
Ints9	A	G	14: 65,032,256	Y465C	probably damaging	Het
Ist1	A	G	8: 109,678,883	V175A	probably damaging	Het
Kcnj12	T	C	11: 61,069,557	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,466,387	S416G	probably benign	Het
Kdm3a	T	A	6: 71,613,956	T295S	probably benign	Het
Kif1c	T	A	11: 70,708,971	M479K	probably damaging	Het
Kif20b	T	C	19: 34,956,038	L83P	probably damaging	Het
Kndc1	A	G	7: 139,927,711	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,704,730	M81V	probably benign	Het
Map4k5	C	A	12: 69,824,662	M495I	probably damaging	Het
Mest	C	T	6: 30,742,791	R146C	probably benign	Het
Mettl24	T	A	10: 40,737,816		probably null	Het
Mical1	T	C	10: 41,483,535	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,589,946	Y77*	probably null	Het
Mss51	A	T	14: 20,483,178	C408*	probably null	Het
Myh6	T	C	14: 54,957,401	T666A	probably benign	Het
Myo10	T	C	15: 25,805,587	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,223,218	Y503*	probably null	Het
Neil1	A	C	9: 57,146,604	F144C	probably damaging	Het
Nipbl	T	A	15: 8,343,517	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732	V7A	probably damaging	Het
Ntng2	G	A	2: 29,197,057	Q384*	probably null	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr137	A	T	17: 38,305,312	S50T	probably benign	Het
Olfr1385	A	T	11: 49,494,670	I46F	probably damaging	Het
Olfr1408	A	G	1: 173,130,815	V134A	probably benign	Het
Olfr381	A	C	11: 73,486,374	V150G	probably benign	Het
Olfr535	A	G	7: 140,492,709	S24G	probably benign	Het
Olfr761	C	T	17: 37,952,385	G213E	possibly damaging	Het
Patj	A	G	4: 98,491,590	D151G	probably benign	Het
Plpbp	T	C	8: 27,049,231	V126A	probably damaging	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,483,651	S480A	probably damaging	Het
Pum1	T	C	4: 130,701,048	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,179,091	G353A	probably damaging	Het
Reln	C	A	5: 21,979,002	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,265,925	I9V	probably benign	Het
Ryr2	T	C	13: 11,769,878	H1063R	probably benign	Het
Samd14	C	G	11: 95,023,600	D361E	probably damaging	Het
Samd15	A	T	12: 87,201,843	N365I	probably damaging	Het
Sez6	T	C	11: 77,953,503	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,905,150	L236Q	probably damaging	Het
Sspo	C	T	6: 48,457,340	T991I	probably damaging	Het
Suco	A	T	1: 161,859,500	L97*	probably null	Het
Tab1	C	A	15: 80,148,296	R35S	probably benign	Het
Tet3	C	A	6: 83,404,163	S341I	possibly damaging	Het
Tlr1	A	T	5: 64,925,700	D511E	probably benign	Het
Tmem132b	A	C	5: 125,785,899	D656A	probably damaging	Het
Tmtc4	T	A	14: 122,941,988		probably null	Het
Trmo	T	C	4: 46,380,158	T404A	probably damaging	Het
Trpm1	A	G	7: 64,230,268	K790E	probably damaging	Het
Ulk4	C	A	9: 121,168,184	R774M	probably null	Het
Ush2a	C	T	1: 188,451,818	L1440F	probably benign	Het
Usp16	A	G	16: 87,480,907	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,865,686	I255N	probably damaging	Het
Vmn2r61	A	T	7: 42,266,652	R230*	probably null	Het
Vps13c	T	A	9: 67,993,013	F3671L	probably benign	Het
Washc5	T	C	15: 59,359,340	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,151,617	K331E	probably damaging	Het
Zfp986	A	T	4: 145,899,235	K155I	probably benign	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
R0629:Sec16b	UTSW	1	157564863	unclassified	probably benign
R1028:Sec16b	UTSW	1	157560917	missense	probably benign	0.03
R1119:Sec16b	UTSW	1	157564834	missense	possibly damaging	0.93
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'- TTGTAGAGCAAAGGGCCACC -3'
(R):5'- AAGCATCATAGGGGTAGTCTCAG -3'

Sequencing Primer
(F):5'- AGGGCCACCTCTGTTCTG -3'
(R):5'- TATTATCAAAGGGCAGGGTCTCC -3'

Posted On

2014-06-23