Mutagenetix > Incidental Mutations

Incidental Mutation 'R0426:Sec23b'

38628

Institutional Source

Beutler Lab

Gene Symbol

Sec23b

Ensembl Gene

ENSMUSG00000027429

Gene Name

SEC23 homolog B, COPII coat complex component

Synonyms

MMRRC Submission

038628-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0426 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

144556229-144590749 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 144568612 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028916] [ENSMUST00000143573] [ENSMUST00000149697] [ENSMUST00000155876]

Predicted Effect

probably benign
Transcript: ENSMUST00000028916

SMART Domains

Protein: ENSMUSP00000028916
Gene: ENSMUSG00000027429

Domain	Start	End	E-Value	Type
Pfam:zf-Sec23_Sec24	58	98	4.3e-17	PFAM
Pfam:Sec23_trunk	126	392	2.3e-82	PFAM
Pfam:Sec23_BS	403	506	7.2e-33	PFAM
Pfam:Sec23_helical	522	620	1.1e-28	PFAM
Pfam:Gelsolin	631	720	1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128210

Predicted Effect

probably benign
Transcript: ENSMUST00000143573

SMART Domains

Protein: ENSMUSP00000120972
Gene: ENSMUSG00000027429

Domain	Start	End	E-Value	Type
Pfam:zf-Sec23_Sec24	57	98	3.7e-18	PFAM
Pfam:Sec23_trunk	126	278	1.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149697

SMART Domains

Protein: ENSMUSP00000122819
Gene: ENSMUSG00000027429

Domain	Start	End	E-Value	Type
Pfam:zf-Sec23_Sec24	57	98	8.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155876

SMART Domains

Protein: ENSMUSP00000122884
Gene: ENSMUSG00000027429

Domain	Start	End	E-Value	Type
Pfam:zf-Sec23_Sec24	57	98	1.1e-18	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	C	T	5: 107,510,373	T1603I	probably damaging	Het
Abca8b	G	T	11: 109,955,027		probably benign	Het
Acadl	A	T	1: 66,841,646	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,622,746	D222G	probably benign	Het
Anapc15	A	G	7: 101,898,033	T39A	probably benign	Het
Ano3	A	T	2: 110,661,174	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,970,990		probably null	Het
Atad5	T	A	11: 80,112,832	I1091N	probably benign	Het
Atf1	A	T	15: 100,232,827	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,784,734	M252T	probably benign	Het
Cd55	C	T	1: 130,448,372	R347H	probably benign	Het
Cdc27	A	C	11: 104,513,027		probably null	Het
Cdh9	G	A	15: 16,823,454		probably null	Het
Cdk11b	T	C	4: 155,642,512		probably benign	Het
Cep70	A	G	9: 99,297,684	D567G	probably benign	Het
Cep78	A	T	19: 15,970,970	Y382*	probably null	Het
Col9a2	T	C	4: 121,044,660		probably benign	Het
Cyp2d12	G	A	15: 82,558,963	D409N	probably benign	Het
Ddx39	A	G	8: 83,721,769	T217A	probably benign	Het
Dennd1b	T	A	1: 139,170,196	D733E	probably benign	Het
Dicer1	A	G	12: 104,702,542	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,943,572	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,852,436		probably benign	Het
Dysf	T	C	6: 84,149,757	L1332P	probably damaging	Het
F5	A	G	1: 164,182,840	D380G	probably damaging	Het
Fam160a2	A	C	7: 105,389,473	C186W	probably damaging	Het
Fam171a1	T	C	2: 3,225,396	V522A	probably benign	Het
Galr2	C	A	11: 116,281,691	A69D	probably damaging	Het
Grk2	T	C	19: 4,290,600		probably null	Het
Gtf3c1	A	T	7: 125,663,016	Y1119*	probably null	Het
Hgd	A	T	16: 37,588,685		probably benign	Het
Ildr2	G	T	1: 166,308,899	V436L	probably benign	Het
Intu	G	A	3: 40,675,305	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,883,096	P268T	probably benign	Het
Jarid2	T	C	13: 44,840,882		probably null	Het
Jup	A	T	11: 100,372,401	M716K	probably benign	Het
Kank1	G	A	19: 25,411,473	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,064,244		probably benign	Het
Kdm3a	C	T	6: 71,600,755	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437		probably benign	Het
Kifap3	T	A	1: 163,865,552		probably benign	Het
Macf1	T	A	4: 123,483,660	K1400*	probably null	Het
Majin	A	G	19: 6,212,117		probably benign	Het
Mb21d1	G	A	9: 78,435,738		probably benign	Het
Mctp1	A	G	13: 77,020,821	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,464,127	I286F	possibly damaging	Het
Neil3	T	G	8: 53,609,396		probably benign	Het
Nox3	G	T	17: 3,695,563	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,883,812	K219E	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr213	A	T	6: 116,540,485	N11Y	probably damaging	Het
Olfr389	T	A	11: 73,776,437	M297L	probably benign	Het
Olfr524	A	C	7: 140,202,116	F218C	possibly damaging	Het
Olfr548-ps1	T	A	7: 102,542,686	I250N	probably damaging	Het
Olfr954	T	C	9: 39,461,593	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,379,795	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,342,804	E331V	probably damaging	Het
Pcid2	A	C	8: 13,081,262		probably null	Het
Pcsk9	T	C	4: 106,450,077	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801	E203G	probably damaging	Het
Phlpp2	A	G	8: 109,928,463	Y630C	probably benign	Het
Pidd1	C	T	7: 141,439,133	A812T	probably damaging	Het
Plau	G	A	14: 20,842,314	R389H	probably benign	Het
Plekhg6	G	A	6: 125,364,629		probably null	Het
Ppox	T	C	1: 171,277,749	Y321C	probably damaging	Het
Pxdn	A	G	12: 29,987,066	N281S	possibly damaging	Het
Pycrl	A	T	15: 75,918,388	M138K	probably benign	Het
Radil	T	C	5: 142,497,873	Y526C	probably damaging	Het
Ranbp3	C	A	17: 56,707,169	D233E	probably benign	Het
Rhpn1	A	G	15: 75,711,872	Q402R	possibly damaging	Het
Sel1l2	A	T	2: 140,240,912	L602*	probably null	Het
Sema5b	G	A	16: 35,646,355	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,456,259		probably benign	Het
Synj1	G	T	16: 90,967,354	A65E	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tecrl	T	C	5: 83,354,763		probably benign	Het
Tenm4	G	T	7: 96,777,851	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,182	L259F	probably damaging	Het
Tmem247	G	A	17: 86,918,503	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,852,821	A218E	probably damaging	Het
Tppp	T	A	13: 74,021,311	F57I	probably damaging	Het
Trim36	A	G	18: 46,172,525	W452R	probably damaging	Het
Vars2	A	T	17: 35,664,584	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Zfp516	G	T	18: 82,955,772	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348	L429I	possibly damaging	Het

Other mutations in Sec23b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Sec23b	APN	2	144583770	critical splice donor site	probably null
IGL00668:Sec23b	APN	2	144559218	utr 5 prime	probably benign
IGL00714:Sec23b	APN	2	144559225	missense	probably benign	0.33
IGL00914:Sec23b	APN	2	144566864	missense	probably damaging	1.00
IGL01084:Sec23b	APN	2	144564589	missense	possibly damaging	0.81
IGL01341:Sec23b	APN	2	144585733	missense	probably benign	0.00
IGL01377:Sec23b	APN	2	144559237	missense	probably damaging	0.97
IGL01634:Sec23b	APN	2	144559230	missense	probably damaging	0.96
IGL02321:Sec23b	APN	2	144579405	critical splice donor site	probably null
IGL03027:Sec23b	APN	2	144587545	missense	possibly damaging	0.55
IGL03064:Sec23b	APN	2	144582032	missense	probably benign	0.00
IGL03105:Sec23b	APN	2	144582020	missense	probably damaging	1.00
IGL03240:Sec23b	APN	2	144566759	splice site	probably benign
R0004:Sec23b	UTSW	2	144564562	splice site	probably benign
R0092:Sec23b	UTSW	2	144566910	missense	probably benign	0.21
R0409:Sec23b	UTSW	2	144567912	missense	probably benign	0.22
R0441:Sec23b	UTSW	2	144581997	missense	probably damaging	1.00
R1034:Sec23b	UTSW	2	144590338	missense	possibly damaging	0.87
R1624:Sec23b	UTSW	2	144567129	missense	probably benign
R2020:Sec23b	UTSW	2	144566944	missense	possibly damaging	0.49
R2392:Sec23b	UTSW	2	144585587	splice site	probably null
R3946:Sec23b	UTSW	2	144581973	missense	probably benign
R4407:Sec23b	UTSW	2	144574718	missense	possibly damaging	0.53
R4448:Sec23b	UTSW	2	144559251	missense	probably benign	0.43
R4519:Sec23b	UTSW	2	144582015	missense	possibly damaging	0.86
R4522:Sec23b	UTSW	2	144578366	missense	possibly damaging	0.80
R4654:Sec23b	UTSW	2	144572574	missense	probably benign	0.33
R4849:Sec23b	UTSW	2	144585599	missense	probably damaging	0.96
R4876:Sec23b	UTSW	2	144586361	splice site	probably null
R4983:Sec23b	UTSW	2	144581953	missense	probably benign	0.06
R6169:Sec23b	UTSW	2	144586974	missense	probably damaging	1.00
R6702:Sec23b	UTSW	2	144559189	intron	probably null
R6703:Sec23b	UTSW	2	144559189	intron	probably null
R6748:Sec23b	UTSW	2	144566794	missense	probably damaging	1.00
R7238:Sec23b	UTSW	2	144590338	missense	possibly damaging	0.87
R7511:Sec23b	UTSW	2	144590349	missense	probably benign	0.30
R7845:Sec23b	UTSW	2	144559396	missense	possibly damaging	0.67
R7928:Sec23b	UTSW	2	144559396	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- AGTAAGAGCCACTCTTCTCTCCTGC -3'
(R):5'- GACAGCACTTCATCTCCAGAAGTCC -3'

Sequencing Primer
(F):5'- TGCCCAGAACCTGTGAGAG -3'
(R):5'- GTTCACTCTAACTAGTCAGGCAGG -3'

Posted On

2013-05-23