Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00659:Sec23b'

13950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec23b

Ensembl Gene

ENSMUSG00000027429

Gene Name

SEC23 homolog B, COPII coat complex component

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00659

Quality Score

Status

Chromosome

Chromosomal Location

144398165-144432673 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 144425690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028916 (fasta)

Gene Model

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

AlphaFold

Q9D662

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000146487

Coding Region Coverage

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4e1	T	C	2: 126,905,221 (GRCm39)	V964A	probably benign	Het
Birc6	T	A	17: 74,967,648 (GRCm39)	V4197E	probably damaging	Het
C8b	T	A	4: 104,658,531 (GRCm39)		probably benign	Het
Cdh13	A	G	8: 120,039,406 (GRCm39)	D616G	probably damaging	Het
Cfi	A	G	3: 129,630,462 (GRCm39)	K2E	unknown	Het
Chek1	C	A	9: 36,633,895 (GRCm39)		probably null	Het
Chst11	T	G	10: 83,027,639 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,103,169 (GRCm39)		probably benign	Het
Erbb3	A	G	10: 128,406,852 (GRCm39)	S1049P	probably damaging	Het
Fkbp15	T	C	4: 62,251,917 (GRCm39)		probably benign	Het
Fxr2	C	A	11: 69,531,076 (GRCm39)	Q51K	probably benign	Het
Kpna7	T	A	5: 144,944,056 (GRCm39)	I50F	probably damaging	Het
Mdm2	T	C	10: 117,538,204 (GRCm39)	R65G	possibly damaging	Het
N4bp1	G	T	8: 87,588,430 (GRCm39)	D169E	probably damaging	Het
Nlrp9a	A	G	7: 26,257,050 (GRCm39)	I134V	probably benign	Het
Plrg1	T	A	3: 82,977,980 (GRCm39)	S400T	probably damaging	Het
Polr1b	T	C	2: 128,960,020 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,148,556 (GRCm39)	T1680I	probably damaging	Het
Usp29	A	G	7: 6,965,281 (GRCm39)	N375D	probably benign	Het
Wrn	A	G	8: 33,812,405 (GRCm39)		probably benign	Het
Zfp422	G	A	6: 116,603,466 (GRCm39)	Q178*	probably null	Het
Zfp938	T	A	10: 82,063,355 (GRCm39)		probably benign	Het

Other mutations in Sec23b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:Sec23b	APN	2	144,401,138 (GRCm39)	utr 5 prime	probably benign
IGL00714:Sec23b	APN	2	144,401,145 (GRCm39)	missense	probably benign	0.33
IGL00914:Sec23b	APN	2	144,408,784 (GRCm39)	missense	probably damaging	1.00
IGL01084:Sec23b	APN	2	144,406,509 (GRCm39)	missense	possibly damaging	0.81
IGL01341:Sec23b	APN	2	144,427,653 (GRCm39)	missense	probably benign	0.00
IGL01377:Sec23b	APN	2	144,401,157 (GRCm39)	missense	probably damaging	0.97
IGL01634:Sec23b	APN	2	144,401,150 (GRCm39)	missense	probably damaging	0.96
IGL02321:Sec23b	APN	2	144,421,325 (GRCm39)	critical splice donor site	probably null
IGL03027:Sec23b	APN	2	144,429,465 (GRCm39)	missense	possibly damaging	0.55
IGL03064:Sec23b	APN	2	144,423,952 (GRCm39)	missense	probably benign	0.00
IGL03105:Sec23b	APN	2	144,423,940 (GRCm39)	missense	probably damaging	1.00
IGL03240:Sec23b	APN	2	144,408,679 (GRCm39)	splice site	probably benign
R0004:Sec23b	UTSW	2	144,406,482 (GRCm39)	splice site	probably benign
R0092:Sec23b	UTSW	2	144,408,830 (GRCm39)	missense	probably benign	0.21
R0409:Sec23b	UTSW	2	144,409,832 (GRCm39)	missense	probably benign	0.22
R0426:Sec23b	UTSW	2	144,410,532 (GRCm39)	unclassified	probably benign
R0441:Sec23b	UTSW	2	144,423,917 (GRCm39)	missense	probably damaging	1.00
R1034:Sec23b	UTSW	2	144,432,258 (GRCm39)	missense	possibly damaging	0.87
R1624:Sec23b	UTSW	2	144,409,049 (GRCm39)	missense	probably benign
R2020:Sec23b	UTSW	2	144,408,864 (GRCm39)	missense	possibly damaging	0.49
R2392:Sec23b	UTSW	2	144,427,507 (GRCm39)	splice site	probably null
R3946:Sec23b	UTSW	2	144,423,893 (GRCm39)	missense	probably benign
R4407:Sec23b	UTSW	2	144,416,638 (GRCm39)	missense	possibly damaging	0.53
R4448:Sec23b	UTSW	2	144,401,171 (GRCm39)	missense	probably benign	0.43
R4519:Sec23b	UTSW	2	144,423,935 (GRCm39)	missense	possibly damaging	0.86
R4522:Sec23b	UTSW	2	144,420,286 (GRCm39)	missense	possibly damaging	0.80
R4654:Sec23b	UTSW	2	144,414,494 (GRCm39)	missense	probably benign	0.33
R4849:Sec23b	UTSW	2	144,427,519 (GRCm39)	missense	probably damaging	0.96
R4876:Sec23b	UTSW	2	144,428,281 (GRCm39)	splice site	probably null
R4983:Sec23b	UTSW	2	144,423,873 (GRCm39)	missense	probably benign	0.06
R6169:Sec23b	UTSW	2	144,428,894 (GRCm39)	missense	probably damaging	1.00
R6702:Sec23b	UTSW	2	144,401,109 (GRCm39)	splice site	probably null
R6703:Sec23b	UTSW	2	144,401,109 (GRCm39)	splice site	probably null
R6748:Sec23b	UTSW	2	144,408,714 (GRCm39)	missense	probably damaging	1.00
R7238:Sec23b	UTSW	2	144,432,258 (GRCm39)	missense	possibly damaging	0.87
R7511:Sec23b	UTSW	2	144,432,269 (GRCm39)	missense	probably benign	0.30
R7845:Sec23b	UTSW	2	144,401,316 (GRCm39)	missense	possibly damaging	0.67
R7914:Sec23b	UTSW	2	144,406,565 (GRCm39)	missense	probably benign
R8177:Sec23b	UTSW	2	144,427,543 (GRCm39)	missense	probably benign	0.03
R8183:Sec23b	UTSW	2	144,401,189 (GRCm39)	missense	probably benign	0.08
R8238:Sec23b	UTSW	2	144,406,568 (GRCm39)	missense	probably benign	0.00
R8420:Sec23b	UTSW	2	144,401,234 (GRCm39)	missense	probably benign	0.01
R8488:Sec23b	UTSW	2	144,423,983 (GRCm39)	missense	probably damaging	0.98
R8558:Sec23b	UTSW	2	144,428,308 (GRCm39)	missense	possibly damaging	0.90
R8911:Sec23b	UTSW	2	144,401,316 (GRCm39)	missense	probably benign	0.27
R8939:Sec23b	UTSW	2	144,411,137 (GRCm39)	critical splice donor site	probably null
R9058:Sec23b	UTSW	2	144,424,010 (GRCm39)	missense	probably damaging	1.00
R9172:Sec23b	UTSW	2	144,401,179 (GRCm39)	missense	probably benign
R9334:Sec23b	UTSW	2	144,410,550 (GRCm39)	missense	possibly damaging	0.83
R9401:Sec23b	UTSW	2	144,420,286 (GRCm39)	missense	probably benign	0.10
R9561:Sec23b	UTSW	2	144,408,728 (GRCm39)	missense	possibly damaging	0.84
R9593:Sec23b	UTSW	2	144,410,564 (GRCm39)	missense	probably benign	0.20
R9696:Sec23b	UTSW	2	144,428,343 (GRCm39)	missense	probably benign	0.03

Posted On

2012-12-06