Mutagenetix > Incidental Mutation

Incidental Mutation 'R4913:Sec24b'

379683

Institutional Source

Beutler Lab

Gene Symbol

Sec24b

Ensembl Gene

ENSMUSG00000001052

Gene Name

SEC24 homolog B, COPII coat complex component

Synonyms

SEC24

MMRRC Submission

042515-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R4913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129776408-129855202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129796028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 367 (S367T)

Ref Sequence

ENSEMBL: ENSMUSP00000132861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001079] [ENSMUST00000165873]

AlphaFold

Q80ZX0

Predicted Effect

probably benign
Transcript: ENSMUST00000001079
AA Change: S630T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: S630T

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	127	143	N/A	INTRINSIC
low complexity region	229	254	N/A	INTRINSIC
low complexity region	316	333	N/A	INTRINSIC
low complexity region	351	362	N/A	INTRINSIC
low complexity region	363	373	N/A	INTRINSIC
low complexity region	378	386	N/A	INTRINSIC
low complexity region	419	444	N/A	INTRINSIC
low complexity region	450	473	N/A	INTRINSIC
low complexity region	486	505	N/A	INTRINSIC
low complexity region	555	568	N/A	INTRINSIC
Pfam:zf-Sec23_Sec24	585	622	4.1e-17	PFAM
Pfam:Sec23_trunk	658	897	2.4e-87	PFAM
Pfam:Sec23_BS	902	986	3.4e-23	PFAM
Pfam:Sec23_helical	999	1099	8.7e-31	PFAM
Pfam:Gelsolin	1122	1197	4.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165873
AA Change: S367T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132861
Gene: ENSMUSG00000001052
AA Change: S367T

Domain	Start	End	E-Value	Type
low complexity region	1	26	N/A	INTRINSIC
low complexity region	88	105	N/A	INTRINSIC
low complexity region	115	123	N/A	INTRINSIC
low complexity region	156	181	N/A	INTRINSIC
low complexity region	187	210	N/A	INTRINSIC
low complexity region	223	242	N/A	INTRINSIC
low complexity region	292	305	N/A	INTRINSIC
Pfam:zf-Sec23_Sec24	321	359	2.5e-18	PFAM
Pfam:Sec23_trunk	395	634	1.6e-87	PFAM
Pfam:Sec23_BS	639	723	2.2e-23	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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 SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit craniorachischisis, abnormal embryo shape, omphalocele, disoriented hair cells, and failure of eyelid fusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,255,381 (GRCm39)	M267K	possibly damaging	Het
Acsm5	T	C	7: 119,133,566 (GRCm39)	S244P	probably damaging	Het
Actr6	A	G	10: 89,550,808 (GRCm39)	F329L	probably benign	Het
Actrt3	A	G	3: 30,652,588 (GRCm39)	S169P	probably benign	Het
Agtpbp1	C	A	13: 59,647,886 (GRCm39)	G645C	probably damaging	Het
AI661453	C	T	17: 47,779,480 (GRCm39)	R1069*	probably null	Het
Akr1c6	T	C	13: 4,504,524 (GRCm39)	I303T	probably benign	Het
Arnt	A	G	3: 95,397,965 (GRCm39)	R588G	probably damaging	Het
Atf1	A	G	15: 100,149,979 (GRCm39)		probably null	Het
Casp12	T	C	9: 5,358,726 (GRCm39)	V318A	probably damaging	Het
Cblb	C	T	16: 51,986,392 (GRCm39)	P545L	possibly damaging	Het
Cc2d2a	A	T	5: 43,896,665 (GRCm39)	I1521F	probably benign	Het
Ccn2	T	C	10: 24,473,225 (GRCm39)	C255R	probably damaging	Het
Ccnb1ip1	T	A	14: 51,029,601 (GRCm39)	K154*	probably null	Het
Cd300a	A	T	11: 114,784,198 (GRCm39)	K69*	probably null	Het
Cdin1	A	G	2: 115,500,568 (GRCm39)		probably null	Het
Clec10a	A	G	11: 70,060,851 (GRCm39)	Y78C	probably damaging	Het
Cnot1	T	C	8: 96,489,695 (GRCm39)	I503V	possibly damaging	Het
Cpa2	A	G	6: 30,554,292 (GRCm39)	H304R	probably damaging	Het
Crb2	A	T	2: 37,680,257 (GRCm39)	H395L	probably benign	Het
Dnah8	T	A	17: 31,038,113 (GRCm39)	N4257K	probably damaging	Het
Dnase2a	G	A	8: 85,635,477 (GRCm39)	D25N	probably damaging	Het
Drd1	T	C	13: 54,207,186 (GRCm39)	T343A	probably benign	Het
Emid1	G	A	11: 5,082,012 (GRCm39)	T161I	probably benign	Het
Epn2	A	G	11: 61,425,402 (GRCm39)		probably null	Het
Esp36	A	T	17: 38,728,055 (GRCm39)	N75K	possibly damaging	Het
Faf1	A	G	4: 109,792,746 (GRCm39)	S573G	possibly damaging	Het
Fam149a	T	G	8: 45,806,920 (GRCm39)	S231R	probably damaging	Het
Fam78a	T	C	2: 31,959,774 (GRCm39)	E112G	probably damaging	Het
Fgf18	T	C	11: 33,084,316 (GRCm39)	D46G	probably benign	Het
Fggy	G	A	4: 95,585,313 (GRCm39)		probably null	Het
Foxb1	T	C	9: 69,666,859 (GRCm39)	M224V	probably benign	Het
Gpr75	T	C	11: 30,841,808 (GRCm39)	C238R	possibly damaging	Het
Gsdmc3	A	G	15: 63,730,122 (GRCm39)	*481R	probably null	Het
H2az2	C	A	11: 6,383,750 (GRCm39)	A57S	probably damaging	Het
Hsd17b11	T	C	5: 104,140,748 (GRCm39)	I250V	probably benign	Het
Hus1	C	A	11: 8,946,856 (GRCm39)	L280F	probably benign	Het
Ide	A	T	19: 37,306,469 (GRCm39)	H101Q	unknown	Het
Ido1	T	C	8: 25,074,533 (GRCm39)	D279G	probably benign	Het
Inpp5b	T	C	4: 124,674,214 (GRCm39)	V307A	probably benign	Het
Ipo5	G	A	14: 121,172,498 (GRCm39)	V519I	probably damaging	Het
Krba1	T	C	6: 48,383,891 (GRCm39)	V239A	probably benign	Het
Lmod3	A	G	6: 97,224,125 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,393,682 (GRCm39)	D836G	probably damaging	Het
Malt1	G	T	18: 65,609,351 (GRCm39)	C774F	probably damaging	Het
Map2k4	C	A	11: 65,600,758 (GRCm39)	D58Y	probably damaging	Het
Mc2r	T	C	18: 68,540,411 (GRCm39)	N294S	probably benign	Het
Mybpc1	A	G	10: 88,389,116 (GRCm39)		probably null	Het
Mybpc3	A	G	2: 90,956,609 (GRCm39)	E637G	possibly damaging	Het
Narf	A	G	11: 121,135,469 (GRCm39)	Q107R	probably damaging	Het
Nlrp3	G	A	11: 59,440,064 (GRCm39)	G547D	probably benign	Het
Nucb2	G	T	7: 116,123,540 (GRCm39)	G51*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Otog	C	A	7: 45,913,526 (GRCm39)	D786E	probably benign	Het
Otogl	T	C	10: 107,712,716 (GRCm39)	T543A	probably damaging	Het
Pgap6	T	C	17: 26,339,513 (GRCm39)	F584L	probably damaging	Het
Phf20l1	A	G	15: 66,476,704 (GRCm39)	N266S	probably benign	Het
Pink1	G	T	4: 138,042,866 (GRCm39)	S446*	probably null	Het
Pkp4	T	G	2: 59,135,794 (GRCm39)	H186Q	probably damaging	Het
Prl3b1	T	C	13: 27,433,460 (GRCm39)	V205A	probably damaging	Het
Prss32	T	C	17: 24,078,157 (GRCm39)	V281A	probably damaging	Het
Psd3	C	T	8: 68,573,821 (GRCm39)	C120Y	probably damaging	Het
Ptcra	A	G	17: 47,069,574 (GRCm39)	L99P	probably damaging	Het
Rab3gap2	C	T	1: 184,995,026 (GRCm39)	T855I	probably benign	Het
Rabgap1l	T	C	1: 160,066,111 (GRCm39)	E199G	probably damaging	Het
Rbm44	T	A	1: 91,083,216 (GRCm39)	C580S	probably damaging	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rhoq	T	C	17: 87,302,493 (GRCm39)	V143A	probably benign	Het
Sacs	T	A	14: 61,451,246 (GRCm39)	Y4431N	probably benign	Het
Sema4c	G	A	1: 36,589,266 (GRCm39)	S620F	probably benign	Het
Slc12a1	G	A	2: 125,070,670 (GRCm39)	G1054E	probably damaging	Het
Slc16a3	A	G	11: 120,848,794 (GRCm39)	R417G	probably benign	Het
Slc22a29	A	T	19: 8,195,722 (GRCm39)	S106T	probably benign	Het
Slc41a2	T	C	10: 83,149,284 (GRCm39)	T220A	probably damaging	Het
Tap1	T	C	17: 34,412,468 (GRCm39)	F474L	possibly damaging	Het
Tas2r106	G	T	6: 131,655,422 (GRCm39)	A143D	probably benign	Het
Tbx6	A	T	7: 126,383,707 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,706 (GRCm39)	N402I	probably damaging	Het
Tle3	T	A	9: 61,281,275 (GRCm39)	V22E	probably damaging	Het
Trip4	T	C	9: 65,765,639 (GRCm39)	I353M	probably damaging	Het
Ubr2	C	A	17: 47,270,385 (GRCm39)		probably null	Het
Ugdh	A	G	5: 65,580,791 (GRCm39)		probably null	Het
Uhrf1	T	C	17: 56,622,478 (GRCm39)	V431A	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Zfp820	T	C	17: 22,038,200 (GRCm39)	K376R	probably benign	Het

Other mutations in Sec24b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Sec24b	APN	3	129,814,295 (GRCm39)	intron	probably benign
IGL01137:Sec24b	APN	3	129,801,093 (GRCm39)	missense	probably benign	0.02
IGL01370:Sec24b	APN	3	129,801,253 (GRCm39)	splice site	probably benign
IGL01931:Sec24b	APN	3	129,803,448 (GRCm39)	missense	probably benign	0.00
PIT4696001:Sec24b	UTSW	3	129,788,040 (GRCm39)	missense	probably benign	0.01
R0193:Sec24b	UTSW	3	129,782,633 (GRCm39)	missense	probably null
R0194:Sec24b	UTSW	3	129,777,814 (GRCm39)	critical splice donor site	probably null
R0403:Sec24b	UTSW	3	129,793,183 (GRCm39)	missense	probably damaging	1.00
R0403:Sec24b	UTSW	3	129,783,325 (GRCm39)	missense	possibly damaging	0.81
R0576:Sec24b	UTSW	3	129,834,985 (GRCm39)	missense	probably benign	0.11
R0583:Sec24b	UTSW	3	129,834,960 (GRCm39)	nonsense	probably null
R0963:Sec24b	UTSW	3	129,834,554 (GRCm39)	missense	probably benign	0.02
R0967:Sec24b	UTSW	3	129,790,431 (GRCm39)	missense	probably damaging	1.00
R1344:Sec24b	UTSW	3	129,801,072 (GRCm39)	missense	probably damaging	1.00
R1418:Sec24b	UTSW	3	129,801,072 (GRCm39)	missense	probably damaging	1.00
R1594:Sec24b	UTSW	3	129,785,000 (GRCm39)	missense	probably benign	0.00
R1716:Sec24b	UTSW	3	129,834,665 (GRCm39)	missense	possibly damaging	0.89
R1938:Sec24b	UTSW	3	129,785,010 (GRCm39)	missense	possibly damaging	0.82
R2020:Sec24b	UTSW	3	129,781,377 (GRCm39)	missense	probably damaging	1.00
R2407:Sec24b	UTSW	3	129,795,965 (GRCm39)	missense	probably benign	0.02
R2415:Sec24b	UTSW	3	129,789,729 (GRCm39)	missense	probably benign	0.00
R3121:Sec24b	UTSW	3	129,795,953 (GRCm39)	critical splice donor site	probably null
R3729:Sec24b	UTSW	3	129,827,482 (GRCm39)	missense	possibly damaging	0.95
R3731:Sec24b	UTSW	3	129,827,482 (GRCm39)	missense	possibly damaging	0.95
R3789:Sec24b	UTSW	3	129,814,276 (GRCm39)	missense	probably benign	0.00
R4229:Sec24b	UTSW	3	129,834,368 (GRCm39)	missense	probably benign	0.24
R4230:Sec24b	UTSW	3	129,834,368 (GRCm39)	missense	probably benign	0.24
R4617:Sec24b	UTSW	3	129,834,413 (GRCm39)	missense	possibly damaging	0.94
R4856:Sec24b	UTSW	3	129,777,619 (GRCm39)	missense	probably benign	0.07
R4886:Sec24b	UTSW	3	129,777,619 (GRCm39)	missense	probably benign	0.07
R5510:Sec24b	UTSW	3	129,834,544 (GRCm39)	missense	probably damaging	1.00
R5601:Sec24b	UTSW	3	129,834,483 (GRCm39)	small insertion	probably benign
R6167:Sec24b	UTSW	3	129,782,550 (GRCm39)	missense	possibly damaging	0.88
R6314:Sec24b	UTSW	3	129,800,894 (GRCm39)	splice site	probably null
R6442:Sec24b	UTSW	3	129,790,350 (GRCm39)	missense	probably damaging	1.00
R6512:Sec24b	UTSW	3	129,834,946 (GRCm39)	missense	probably damaging	1.00
R6743:Sec24b	UTSW	3	129,834,881 (GRCm39)	missense	probably damaging	0.98
R7081:Sec24b	UTSW	3	129,781,391 (GRCm39)	missense	probably benign	0.00
R7179:Sec24b	UTSW	3	129,782,595 (GRCm39)	missense	probably damaging	1.00
R7214:Sec24b	UTSW	3	129,827,509 (GRCm39)	missense	probably benign	0.19
R7332:Sec24b	UTSW	3	129,835,042 (GRCm39)	missense	probably benign	0.10
R7414:Sec24b	UTSW	3	129,803,514 (GRCm39)	missense	probably benign	0.01
R7599:Sec24b	UTSW	3	129,834,460 (GRCm39)	small insertion	probably benign
R7774:Sec24b	UTSW	3	129,777,846 (GRCm39)	missense	possibly damaging	0.88
R7895:Sec24b	UTSW	3	129,789,598 (GRCm39)	missense	probably benign	0.13
R8146:Sec24b	UTSW	3	129,789,573 (GRCm39)	nonsense	probably null
R8217:Sec24b	UTSW	3	129,834,599 (GRCm39)	missense	possibly damaging	0.94
R8344:Sec24b	UTSW	3	129,798,650 (GRCm39)	missense	probably damaging	0.97
R8525:Sec24b	UTSW	3	129,805,467 (GRCm39)	missense	probably damaging	1.00
R8699:Sec24b	UTSW	3	129,798,653 (GRCm39)	missense	probably damaging	1.00
R8783:Sec24b	UTSW	3	129,783,342 (GRCm39)	missense	probably benign
R8929:Sec24b	UTSW	3	129,803,507 (GRCm39)	missense	possibly damaging	0.80
R8967:Sec24b	UTSW	3	129,785,084 (GRCm39)	missense	probably damaging	1.00
R9332:Sec24b	UTSW	3	129,801,220 (GRCm39)	missense	probably benign	0.01
R9355:Sec24b	UTSW	3	129,787,489 (GRCm39)	missense	possibly damaging	0.60
R9660:Sec24b	UTSW	3	129,790,422 (GRCm39)	missense	probably damaging	1.00
R9728:Sec24b	UTSW	3	129,790,422 (GRCm39)	missense	probably damaging	1.00
R9781:Sec24b	UTSW	3	129,789,742 (GRCm39)	missense	probably damaging	0.98
X0065:Sec24b	UTSW	3	129,790,004 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTTAGCAAGCAGACCAAATCAG -3'
(R):5'- GAAAGGCAACCTGTGTCCTG -3'

Sequencing Primer
(F):5'- GCAGACCAAATCAGACAAACTCTC -3'
(R):5'- GCCTGGTTCTCTCAGAAAATACC -3'

Posted On

2016-04-15