Mutagenetix > Incidental Mutation

Incidental Mutation 'R9332:Sec24b'

706904

Institutional Source

Beutler Lab

Gene Symbol

Sec24b

Ensembl Gene

ENSMUSG00000001052

Gene Name

SEC24 homolog B, COPII coat complex component

Synonyms

SEC24

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R9332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129776408-129855202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129801220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 488 (S488P)

Ref Sequence

ENSEMBL: ENSMUSP00000001079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001079] [ENSMUST00000165873] [ENSMUST00000168644]

AlphaFold

Q80ZX0

Predicted Effect

probably benign
Transcript: ENSMUST00000001079
AA Change: S488P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: S488P

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: S225P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132861
Gene: ENSMUSG00000001052
AA Change: S225P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168644
AA Change: S359P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126923
Gene: ENSMUSG00000001052
AA Change: S359P

Domain	Start	End	E-Value	Type
low complexity region	93	118	N/A	INTRINSIC
low complexity region	180	197	N/A	INTRINSIC
low complexity region	249	257	N/A	INTRINSIC
low complexity region	290	315	N/A	INTRINSIC
low complexity region	321	344	N/A	INTRINSIC
low complexity region	357	376	N/A	INTRINSIC
PDB:3EH1\|A	377	411	1e-11	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	G	13: 112,459,677 (GRCm39)	D90E	probably damaging	Het
Arid1b	C	A	17: 5,045,584 (GRCm39)	P124Q	unknown	Het
Atxn2	C	T	5: 121,923,425 (GRCm39)	P698L	probably damaging	Het
Bend7	T	C	2: 4,757,531 (GRCm39)	V191A	probably benign	Het
Bltp1	G	A	3: 37,104,989 (GRCm39)	D1485N		Het
C2cd4a	T	G	9: 67,738,779 (GRCm39)	H88P	probably damaging	Het
Cacna1s	C	T	1: 136,020,452 (GRCm39)	Q830*	probably null	Het
Camta1	T	C	4: 151,228,474 (GRCm39)	E786G	possibly damaging	Het
Caprin1	A	G	2: 103,603,390 (GRCm39)	S443P	probably benign	Het
Cass4	T	G	2: 172,269,806 (GRCm39)	F629L	probably benign	Het
Ccdc149	T	A	5: 52,562,399 (GRCm39)	D209V	probably damaging	Het
Ccdc150	T	C	1: 54,316,910 (GRCm39)	V263A	probably damaging	Het
Cfc1	C	T	1: 34,576,453 (GRCm39)	R145C	probably damaging	Het
Cnn1	C	A	9: 22,019,350 (GRCm39)	D239E	probably damaging	Het
Cobll1	C	T	2: 64,933,516 (GRCm39)	S493N	probably benign	Het
Cox20	A	T	1: 178,146,771 (GRCm39)	K13*	probably null	Het
Dclk1	G	A	3: 55,370,500 (GRCm39)	S340N	probably damaging	Het
Dennd2c	T	A	3: 103,038,877 (GRCm39)	D8E	probably benign	Het
Dnajc10	A	T	2: 80,175,327 (GRCm39)	K571N	probably benign	Het
Dock7	T	A	4: 98,896,280 (GRCm39)	I58F		Het
Dpy19l4	A	G	4: 11,304,298 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,483,918 (GRCm39)	D218G	probably benign	Het
Eya4	G	T	10: 22,989,845 (GRCm39)	T504K	probably damaging	Het
Fam222a	T	C	5: 114,749,398 (GRCm39)	I198T	probably damaging	Het
Fbxw10	T	A	11: 62,748,585 (GRCm39)	F404Y	probably benign	Het
Fbxw24	A	T	9: 109,452,681 (GRCm39)	Y105N	probably damaging	Het
Fzd10	T	G	5: 128,678,316 (GRCm39)	L12R	possibly damaging	Het
Gm14443	A	G	2: 175,017,610 (GRCm39)		probably benign	Het
Gm21028	A	T	7: 42,227,904 (GRCm39)	C37S	probably damaging	Het
Gpr179	G	T	11: 97,229,551 (GRCm39)	A868E	probably damaging	Het
Greb1l	T	A	18: 10,532,796 (GRCm39)	Y897N	possibly damaging	Het
Grid1	A	T	14: 35,045,360 (GRCm39)	Y401F	probably benign	Het
Heatr5a	G	A	12: 51,946,068 (GRCm39)	T1181I	probably benign	Het
Herc4	G	A	10: 63,144,125 (GRCm39)	V753I	probably damaging	Het
Htra1	A	T	7: 130,563,851 (GRCm39)	K241*	probably null	Het
Kat6b	A	G	14: 21,720,093 (GRCm39)	I1482V	probably benign	Het
Kif19a	G	T	11: 114,680,033 (GRCm39)	R790L	possibly damaging	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Lpcat1	T	C	13: 73,659,462 (GRCm39)	L408S	probably damaging	Het
Lrrc69	T	A	4: 14,774,987 (GRCm39)	R94W	probably damaging	Het
Map4	A	G	9: 109,864,223 (GRCm39)	T483A	probably benign	Het
Mettl3	C	A	14: 52,534,125 (GRCm39)	C483F	probably damaging	Het
Myh13	A	G	11: 67,254,109 (GRCm39)	D1543G	possibly damaging	Het
Myh2	G	A	11: 67,070,209 (GRCm39)	V414I	probably damaging	Het
Myh7b	C	T	2: 155,470,722 (GRCm39)	R1057C	probably damaging	Het
Myo9b	A	G	8: 71,812,246 (GRCm39)	S2006G	probably benign	Het
Nelfcd	A	G	2: 174,264,978 (GRCm39)	K239R	probably benign	Het
Nlrp4a	T	C	7: 26,159,077 (GRCm39)	S786P	probably damaging	Het
Or5g23	T	A	2: 85,438,331 (GRCm39)	K308*	probably null	Het
Or6c205	A	G	10: 129,086,972 (GRCm39)	T190A	probably damaging	Het
Pdzrn4	G	T	15: 92,295,216 (GRCm39)	V141L	probably benign	Het
Phip	G	T	9: 82,757,412 (GRCm39)	R1587S	probably damaging	Het
Plce1	A	G	19: 38,726,377 (GRCm39)	E1448G	probably damaging	Het
Plrg1	T	C	3: 82,976,308 (GRCm39)	S326P	possibly damaging	Het
Pom121l2	T	A	13: 22,165,852 (GRCm39)	V41E	probably damaging	Het
Pramel17	C	T	4: 101,695,144 (GRCm39)	V56M	probably damaging	Het
Preb	G	T	5: 31,113,673 (GRCm39)	S311*	probably null	Het
Prss33	T	A	17: 24,053,723 (GRCm39)	D118V	probably damaging	Het
Pum1	C	A	4: 130,499,209 (GRCm39)	Y1008*	probably null	Het
Rassf2	G	A	2: 131,846,326 (GRCm39)	R144C	probably damaging	Het
Rnf123	A	T	9: 107,944,704 (GRCm39)	M429K	probably benign	Het
Rtl1	T	A	12: 109,557,291 (GRCm39)	H1516L	probably benign	Het
Scyl3	T	A	1: 163,764,007 (GRCm39)	N124K	probably damaging	Het
Shc4	T	A	2: 125,520,618 (GRCm39)	D277V	probably damaging	Het
Sorl1	T	A	9: 41,912,814 (GRCm39)	D1389V	probably damaging	Het
Srcap	T	A	7: 127,158,812 (GRCm39)	I2896N	unknown	Het
Steap3	T	A	1: 120,155,564 (GRCm39)	Y465F	probably benign	Het
Tecta	C	A	9: 42,284,193 (GRCm39)	C964F	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem178b	G	A	6: 39,981,181 (GRCm39)	W72*	probably null	Het
Tmem235	T	G	11: 117,751,665 (GRCm39)	Y30D	probably damaging	Het
Tpst1	C	A	5: 130,163,301 (GRCm39)	T366K	probably benign	Het
Trdv2-1	C	A	14: 54,183,848 (GRCm39)	P27T	probably benign	Het
Trim37	G	T	11: 87,058,328 (GRCm39)	L335F	possibly damaging	Het
Usp9y	G	A	Y: 1,341,873 (GRCm39)	R1331W	probably damaging	Het
Vmn1r1	T	G	1: 181,985,002 (GRCm39)	H221P	probably damaging	Het
Vmn2r6	A	T	3: 64,454,671 (GRCm39)	S543T	probably benign	Het
Wdpcp	C	T	11: 21,661,522 (GRCm39)	P265S	probably benign	Het
Wdr64	T	C	1: 175,599,871 (GRCm39)	L566P	possibly damaging	Het
Zfp248	A	G	6: 118,405,891 (GRCm39)	I566T	possibly damaging	Het
Zfp595	T	A	13: 67,465,463 (GRCm39)	I270F	probably damaging	Het
Zfp715	A	G	7: 42,948,847 (GRCm39)	L371P	probably damaging	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
R4913:Sec24b	UTSW	3	129,796,028 (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
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'- GCTCTCACTGTCAAGATGCTG -3'
(R):5'- ATGCTTCAACGTTTCTCAGC -3'

Sequencing Primer
(F):5'- GCTCTCACTGTCAAGATGCTGTAAAG -3'
(R):5'- CTCAGCCCTATTAAATGTAAGCTC -3'

Posted On

2022-04-18