Mutagenetix > Incidental Mutation

Incidental Mutation 'R8558:Sec23b'

660829

Institutional Source

Beutler Lab

Gene Symbol

Sec23b

Ensembl Gene

ENSMUSG00000027429

Gene Name

SEC23 homolog B, COPII coat complex component

Synonyms

MMRRC Submission

068521-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144398165-144432673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 144428308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 640 (D640E)

Ref Sequence

ENSEMBL: ENSMUSP00000028916 (fasta)

Gene Model

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

AlphaFold

Q9D662

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028916
AA Change: D640E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028916
Gene: ENSMUSG00000027429
AA Change: D640E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,430,497 (GRCm39)	R51S	probably benign	Het
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Abcb5	T	C	12: 118,841,566 (GRCm39)	T960A	probably benign	Het
Abcc3	A	G	11: 94,242,623 (GRCm39)		probably null	Het
Adamtsl3	A	T	7: 82,077,600 (GRCm39)	D95V	possibly damaging	Het
Ash1l	T	A	3: 88,891,713 (GRCm39)	S1197R	probably damaging	Het
BC034090	T	A	1: 155,097,085 (GRCm39)	H671L	possibly damaging	Het
Bltp1	T	A	3: 37,102,750 (GRCm39)	M1443K		Het
Btnl9	T	C	11: 49,071,619 (GRCm39)	E68G	probably benign	Het
C1qtnf1	A	T	11: 118,339,149 (GRCm39)	Y273F	probably damaging	Het
C4b	A	T	17: 34,955,541 (GRCm39)	C714S	probably damaging	Het
Carmil1	G	A	13: 24,209,863 (GRCm39)	T1204I	probably benign	Het
Cdk12	T	C	11: 98,101,915 (GRCm39)	L591P	unknown	Het
Ces2f	T	A	8: 105,679,758 (GRCm39)	L417*	probably null	Het
Chl1	T	A	6: 103,685,390 (GRCm39)	S810R	probably benign	Het
Ckap2	A	G	8: 22,658,811 (GRCm39)	V644A	possibly damaging	Het
Ctdsp2	T	A	10: 126,829,746 (GRCm39)	V126E	probably damaging	Het
Dok6	G	T	18: 89,492,066 (GRCm39)	H170Q	probably damaging	Het
Dynlrb1	T	C	2: 155,084,728 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,083,795 (GRCm39)	L757S	probably damaging	Het
Epas1	A	C	17: 87,116,896 (GRCm39)	T189P	possibly damaging	Het
Epha10	C	A	4: 124,788,777 (GRCm39)	N283K		Het
Epha5	C	A	5: 84,206,975 (GRCm39)	G853C	probably damaging	Het
Gapvd1	A	T	2: 34,594,493 (GRCm39)	H831Q	probably damaging	Het
Gcnt3	T	A	9: 69,941,996 (GRCm39)	K191*	probably null	Het
Gm14226	T	A	2: 154,866,909 (GRCm39)	S289T	probably benign	Het
Gm4846	T	A	1: 166,314,674 (GRCm39)	D323V	probably damaging	Het
Golga3	G	T	5: 110,356,421 (GRCm39)	R1036L	possibly damaging	Het
Gopc	T	C	10: 52,229,580 (GRCm39)	Q213R	probably damaging	Het
Hrh1	G	A	6: 114,457,564 (GRCm39)	V282M	probably benign	Het
Ighv5-4	T	C	12: 113,561,078 (GRCm39)	Y114C	probably damaging	Het
Igkv10-94	A	T	6: 68,681,636 (GRCm39)	I68N	probably damaging	Het
Kcnj3	A	G	2: 55,336,875 (GRCm39)	D247G	possibly damaging	Het
Lcn6	C	A	2: 25,570,718 (GRCm39)	S102Y	probably damaging	Het
Matk	C	A	10: 81,096,765 (GRCm39)	H232N	probably benign	Het
Mcm9	C	T	10: 53,492,068 (GRCm39)	V366I	probably benign	Het
Nadk	A	G	4: 155,669,844 (GRCm39)	I176V	probably benign	Het
Nlrp12	A	G	7: 3,298,111 (GRCm39)	L20P	probably damaging	Het
Oga	T	C	19: 45,746,511 (GRCm39)	S763G	probably benign	Het
Or10ag56	A	T	2: 87,139,583 (GRCm39)	Q170L	probably benign	Het
Or1e21	G	A	11: 73,344,309 (GRCm39)	S243F	probably damaging	Het
Or4a72	A	G	2: 89,405,329 (GRCm39)	L247P	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,237 (GRCm39)	D648E	probably damaging	Het
Pkd1l3	A	T	8: 110,362,012 (GRCm39)	N1018I	probably damaging	Het
Plch2	T	C	4: 155,083,391 (GRCm39)	K516E	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnma2	C	T	14: 67,153,972 (GRCm39)	A132V	probably benign	Het
Prkn	T	C	17: 11,456,472 (GRCm39)	S99P	probably benign	Het
Prune2	A	G	19: 17,099,602 (GRCm39)	E1702G	probably damaging	Het
Qars1	T	A	9: 108,392,422 (GRCm39)	H756Q	probably benign	Het
Rab5a	A	G	17: 53,790,877 (GRCm39)		probably benign	Het
Rars2	A	G	4: 34,657,199 (GRCm39)	D515G	probably damaging	Het
Rpe65	T	A	3: 159,320,429 (GRCm39)	C329S	probably damaging	Het
Rps6ka2	G	A	17: 7,523,316 (GRCm39)	V231M	possibly damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Scrt1	G	T	15: 76,403,843 (GRCm39)	S49*	probably null	Het
Setdb1	C	T	3: 95,261,979 (GRCm39)	V96M	possibly damaging	Het
Sik3	C	A	9: 46,066,746 (GRCm39)	A175E	probably damaging	Het
Smarcad1	A	G	6: 65,060,908 (GRCm39)	K463E	probably benign	Het
Sobp	A	C	10: 43,003,888 (GRCm39)	C154G	probably damaging	Het
Sox6	A	G	7: 115,141,033 (GRCm39)	S482P	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spink11	T	A	18: 44,324,748 (GRCm39)	R75*	probably null	Het
Sptb	T	C	12: 76,659,561 (GRCm39)	H1113R	probably benign	Het
Sypl2	A	T	3: 108,125,004 (GRCm39)	V119E	probably damaging	Het
Tbc1d24	T	C	17: 24,427,903 (GRCm39)	S20G	unknown	Het
Tektl1	T	C	10: 78,583,035 (GRCm39)	K450E	probably damaging	Het
Top2a	A	T	11: 98,912,549 (GRCm39)	V106D	probably damaging	Het
Tspyl4	G	C	10: 34,174,261 (GRCm39)	R251P	probably damaging	Het
Ttc21a	T	A	9: 119,787,835 (GRCm39)	L801Q	probably damaging	Het
Vgll3	A	G	16: 65,624,844 (GRCm39)	E64G	probably damaging	Het
Vmn2r30	A	G	7: 7,315,655 (GRCm39)	I726T	possibly damaging	Het
Vmn2r81	T	C	10: 79,106,467 (GRCm39)	S482P	possibly damaging	Het
Wasf1	T	G	10: 40,806,648 (GRCm39)	M97R	possibly damaging	Het
Wdr33	T	A	18: 31,962,947 (GRCm39)	M98K	probably benign	Het
Wdr73	G	A	7: 80,548,254 (GRCm39)	T95I	probably 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
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
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'- CCCAGTTACCAGTTTGGAGAGTG -3'
(R):5'- GAATGTAACTGCCCCAGGAC -3'

Sequencing Primer
(F):5'- TTACCAGTTTGGAGAGTGGAAGG -3'
(R):5'- TAACTGCCCCAGGACGAAGATG -3'

Posted On

2021-03-08