Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Sec23b'

223771

Institutional Source

Beutler Lab

Gene Symbol

Sec23b

Ensembl Gene

ENSMUSG00000027429

Gene Name

SEC23 homolog B, COPII coat complex component

Synonyms

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144398165-144432673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144408864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 183 (I183T)

Ref Sequence

ENSEMBL: ENSMUSP00000120972 (fasta)

Gene Model

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

AlphaFold

Q9D662

Predicted Effect

probably benign
Transcript: ENSMUST00000028916
AA Change: I183T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028916
Gene: ENSMUSG00000027429
AA Change: I183T

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

possibly damaging
Transcript: ENSMUST00000143573
AA Change: I183T

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120972
Gene: ENSMUSG00000027429
AA Change: I183T

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

Meta Mutation Damage Score

0.1641

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,796,482 (GRCm39)		noncoding transcript	Het
Adam17	G	A	12: 21,399,876 (GRCm39)	R177C	probably damaging	Het
Ak7	G	A	12: 105,711,591 (GRCm39)		probably null	Het
Akap9	T	C	5: 4,011,967 (GRCm39)	V890A	probably damaging	Het
Alg6	A	G	4: 99,626,369 (GRCm39)	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,429,375 (GRCm39)	A43S	probably benign	Het
Anxa2	C	A	9: 69,391,099 (GRCm39)	D162E	probably damaging	Het
Arap1	A	G	7: 101,050,725 (GRCm39)	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,730,900 (GRCm39)	R121G	probably benign	Het
Arhgef4	A	T	1: 34,762,891 (GRCm39)	T716S	unknown	Het
Atg2a	T	C	19: 6,300,299 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,770 (GRCm39)	I480V	probably null	Het
Cdipt	T	C	7: 126,576,105 (GRCm39)	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 47,067,902 (GRCm39)		probably benign	Het
Chd7	G	A	4: 8,855,226 (GRCm39)	V2152I	probably benign	Het
Chd8	T	A	14: 52,452,698 (GRCm39)	S1274C	probably damaging	Het
Chuk	A	T	19: 44,095,782 (GRCm39)	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,309,577 (GRCm39)		probably benign	Het
Col20a1	G	A	2: 180,654,956 (GRCm39)		probably null	Het
Cped1	A	G	6: 22,143,963 (GRCm39)	I570V	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Ddx27	A	C	2: 166,875,691 (GRCm39)	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,333,158 (GRCm39)	F131L	probably damaging	Het
Dhx38	G	A	8: 110,283,501 (GRCm39)		probably benign	Het
Dido1	G	T	2: 180,301,378 (GRCm39)	N2175K	unknown	Het
Dmxl1	T	A	18: 50,022,625 (GRCm39)	Y1654*	probably null	Het
Dock7	T	A	4: 98,847,338 (GRCm39)	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925 (GRCm39)	I555V	probably benign	Het
Eif2ak2	T	C	17: 79,171,392 (GRCm39)	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,315,209 (GRCm39)	D46V	probably benign	Het
Fcgbpl1	T	C	7: 27,855,019 (GRCm39)	S1882P	probably benign	Het
Fech	C	T	18: 64,611,798 (GRCm39)	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,362 (GRCm39)	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,643 (GRCm39)	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,710,894 (GRCm39)	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,445,947 (GRCm39)	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,723,906 (GRCm39)	G468W	possibly damaging	Het
Ift172	A	T	5: 31,424,585 (GRCm39)	L201*	probably null	Het
Ift70a1	A	G	2: 75,811,279 (GRCm39)	V268A	probably benign	Het
Il1rl2	C	A	1: 40,404,374 (GRCm39)	S498R	probably damaging	Het
Ildr1	C	T	16: 36,545,903 (GRCm39)	R489W	probably damaging	Het
Itga10	G	A	3: 96,559,806 (GRCm39)	G487D	probably damaging	Het
Klk1b8	A	G	7: 43,448,640 (GRCm39)	N128D	probably benign	Het
Lgr6	G	A	1: 135,003,013 (GRCm39)	T79M	probably damaging	Het
Med6	T	C	12: 81,620,651 (GRCm39)	T232A	probably benign	Het
Mgat4e	A	G	1: 134,469,060 (GRCm39)	L328P	probably damaging	Het
Mttp	A	G	3: 137,824,163 (GRCm39)	Y138H	probably damaging	Het
Ngef	T	C	1: 87,473,690 (GRCm39)	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,830,287 (GRCm39)		probably null	Het
Nlgn2	G	T	11: 69,719,267 (GRCm39)	N194K	probably damaging	Het
Or1q1	G	A	2: 36,887,664 (GRCm39)	V281M	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Or5b98	G	A	19: 12,931,696 (GRCm39)	V248I	possibly damaging	Het
Or5m13b	A	G	2: 85,754,087 (GRCm39)	I158M	probably benign	Het
Or8c16	A	G	9: 38,130,728 (GRCm39)	Y203C	possibly damaging	Het
Pcca	T	A	14: 123,050,634 (GRCm39)	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,212,708 (GRCm39)	T671A	possibly damaging	Het
Prex2	G	A	1: 11,232,536 (GRCm39)	V868M	probably damaging	Het
Prkcq	G	A	2: 11,284,332 (GRCm39)	V501I	probably benign	Het
Prom1	T	A	5: 44,168,595 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 76,051,398 (GRCm39)	V41A	probably damaging	Het
Rab39	C	T	9: 53,597,698 (GRCm39)	G189E	possibly damaging	Het
Ret	T	C	6: 118,157,343 (GRCm39)	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,596,153 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,352,744 (GRCm39)	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,072,665 (GRCm39)	N336S	probably damaging	Het
Sag	G	A	1: 87,733,037 (GRCm39)	A2T	probably damaging	Het
Sco2	T	C	15: 89,256,063 (GRCm39)	Y197C	probably damaging	Het
Sec24b	C	T	3: 129,781,377 (GRCm39)	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,727,339 (GRCm39)	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,586,013 (GRCm39)	L17P	probably damaging	Het
Sqor	T	C	2: 122,646,027 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,292,588 (GRCm39)	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,607,732 (GRCm39)	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,570,658 (GRCm39)	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,060,765 (GRCm39)	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,074,305 (GRCm39)	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,270,384 (GRCm39)	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,655,773 (GRCm39)	S751P	probably damaging	Het
Ttn	A	G	2: 76,657,368 (GRCm39)		probably benign	Het
Ugdh	T	C	5: 65,574,268 (GRCm39)	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,578,094 (GRCm39)	L273F	probably null	Het
Vmn2r109	A	T	17: 20,761,448 (GRCm39)	C636*	probably null	Het
Vmn2r59	A	C	7: 41,693,203 (GRCm39)	Y466D	probably damaging	Het
Zic5	C	T	14: 122,702,242 (GRCm39)	G163D	unknown	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
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
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'- TTTCCCGAAGAGAGGTGCTC -3'
(R):5'- AAAAGGCTGCTCCTGAGGTTG -3'

Sequencing Primer
(F):5'- AGAGGTGCTCGGTCTCCTC -3'
(R):5'- ACAGGCATGGCTGACTTG -3'

Posted On

2014-08-25