Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0426 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

144398165-144432673 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 144410532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122884 (fasta)

Gene Model

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

AlphaFold

Q9D662

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
Abca8b	G	T	11: 109,845,853 (GRCm39)		probably benign	Het
Acadl	A	T	1: 66,880,805 (GRCm39)	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,530,030 (GRCm39)	D222G	probably benign	Het
Anapc15	A	G	7: 101,547,240 (GRCm39)	T39A	probably benign	Het
Ano3	A	T	2: 110,491,519 (GRCm39)	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,882,286 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,003,658 (GRCm39)	I1091N	probably benign	Het
Atf1	A	T	15: 100,130,708 (GRCm39)	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,434,482 (GRCm39)	M252T	probably benign	Het
Btbd8	C	T	5: 107,658,239 (GRCm39)	T1603I	probably damaging	Het
Cd55	C	T	1: 130,376,109 (GRCm39)	R347H	probably benign	Het
Cdc27	A	C	11: 104,403,853 (GRCm39)		probably null	Het
Cdh9	G	A	15: 16,823,540 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,726,969 (GRCm39)		probably benign	Het
Cep70	A	G	9: 99,179,737 (GRCm39)	D567G	probably benign	Het
Cep78	A	T	19: 15,948,334 (GRCm39)	Y382*	probably null	Het
Cgas	G	A	9: 78,343,020 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,901,857 (GRCm39)		probably benign	Het
Cyp2d12	G	A	15: 82,443,164 (GRCm39)	D409N	probably benign	Het
Ddx39a	A	G	8: 84,448,398 (GRCm39)	T217A	probably benign	Het
Dennd1b	T	A	1: 139,097,934 (GRCm39)	D733E	probably benign	Het
Dicer1	A	G	12: 104,668,801 (GRCm39)	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,542,795 (GRCm39)	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,840,875 (GRCm39)		probably benign	Het
Dysf	T	C	6: 84,126,739 (GRCm39)	L1332P	probably damaging	Het
F5	A	G	1: 164,010,409 (GRCm39)	D380G	probably damaging	Het
Fam171a1	T	C	2: 3,226,433 (GRCm39)	V522A	probably benign	Het
Fhip1b	A	C	7: 105,038,680 (GRCm39)	C186W	probably damaging	Het
Galr2	C	A	11: 116,172,517 (GRCm39)	A69D	probably damaging	Het
Grk2	T	C	19: 4,340,628 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,262,188 (GRCm39)	Y1119*	probably null	Het
Hgd	A	T	16: 37,409,047 (GRCm39)		probably benign	Het
Ildr2	G	T	1: 166,136,468 (GRCm39)	V436L	probably benign	Het
Intu	G	A	3: 40,629,735 (GRCm39)	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,929,870 (GRCm39)	P268T	probably benign	Het
Jarid2	T	C	13: 44,994,358 (GRCm39)		probably null	Het
Jup	A	T	11: 100,263,227 (GRCm39)	M716K	probably benign	Het
Kank1	G	A	19: 25,388,837 (GRCm39)	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,217,720 (GRCm39)		probably benign	Het
Kdm3a	C	T	6: 71,577,739 (GRCm39)	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437 (GRCm39)		probably benign	Het
Kifap3	T	A	1: 163,693,121 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,377,453 (GRCm39)	K1400*	probably null	Het
Majin	A	G	19: 6,262,147 (GRCm39)		probably benign	Het
Mctp1	A	G	13: 77,168,940 (GRCm39)	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,113,875 (GRCm39)	I286F	possibly damaging	Het
Neil3	T	G	8: 54,062,431 (GRCm39)		probably benign	Het
Nox3	G	T	17: 3,745,838 (GRCm39)	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,860,797 (GRCm39)	K219E	probably benign	Het
Or1e29	T	A	11: 73,667,263 (GRCm39)	M297L	probably benign	Het
Or52b4i	T	A	7: 102,191,893 (GRCm39)	I250N	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or6b13	A	C	7: 139,782,029 (GRCm39)	F218C	possibly damaging	Het
Or6d13	A	T	6: 116,517,446 (GRCm39)	N11Y	probably damaging	Het
Or8g34	T	C	9: 39,372,889 (GRCm39)	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,263,996 (GRCm39)	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,475,857 (GRCm39)	E331V	probably damaging	Het
Pcid2	A	C	8: 13,131,262 (GRCm39)		probably null	Het
Pcsk9	T	C	4: 106,307,274 (GRCm39)	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801 (GRCm38)	E203G	probably damaging	Het
Phlpp2	A	G	8: 110,655,095 (GRCm39)	Y630C	probably benign	Het
Pidd1	C	T	7: 141,019,046 (GRCm39)	A812T	probably damaging	Het
Plau	G	A	14: 20,892,382 (GRCm39)	R389H	probably benign	Het
Plekhg6	G	A	6: 125,341,592 (GRCm39)		probably null	Het
Ppox	T	C	1: 171,105,322 (GRCm39)	Y321C	probably damaging	Het
Pxdn	A	G	12: 30,037,065 (GRCm39)	N281S	possibly damaging	Het
Pycr3	A	T	15: 75,790,237 (GRCm39)	M138K	probably benign	Het
Radil	T	C	5: 142,483,628 (GRCm39)	Y526C	probably damaging	Het
Ranbp3	C	A	17: 57,014,169 (GRCm39)	D233E	probably benign	Het
Rhpn1	A	G	15: 75,583,721 (GRCm39)	Q402R	possibly damaging	Het
Sel1l2	A	T	2: 140,082,832 (GRCm39)	L602*	probably null	Het
Sema5b	G	A	16: 35,466,725 (GRCm39)	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333 (GRCm39)	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,338,312 (GRCm39)		probably benign	Het
Synj1	G	T	16: 90,764,242 (GRCm39)	A65E	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tecrl	T	C	5: 83,502,610 (GRCm39)		probably benign	Het
Tenm4	G	T	7: 96,427,058 (GRCm39)	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,181 (GRCm39)	L259F	probably damaging	Het
Tmem247	G	A	17: 87,225,931 (GRCm39)	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,830,221 (GRCm39)	A218E	probably damaging	Het
Tppp	T	A	13: 74,169,430 (GRCm39)	F57I	probably damaging	Het
Trim36	A	G	18: 46,305,592 (GRCm39)	W452R	probably damaging	Het
Vars2	A	T	17: 35,975,476 (GRCm39)	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Zfp516	G	T	18: 82,973,897 (GRCm39)	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348 (GRCm39)	L429I	possibly damaging	Het

Other mutations in Sec23b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Sec23b	APN	2	144,425,690 (GRCm39)	critical splice donor site	probably null
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
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

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