Mutagenetix > Incidental Mutation

Incidental Mutation 'R1938:Sec24b'

213649

Institutional Source

Beutler Lab

Gene Symbol

Sec24b

Ensembl Gene

ENSMUSG00000001052

Gene Name

SEC24 homolog B, COPII coat complex component

Synonyms

SEC24

MMRRC Submission

039956-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R1938 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129776408-129855202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 129785010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 999 (Q999K)

Ref Sequence

ENSEMBL: ENSMUSP00000001079 (fasta)

Gene Model

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

AlphaFold

Q80ZX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001079
AA Change: Q999K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: Q999K

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

possibly damaging
Transcript: ENSMUST00000165873
AA Change: Q736K

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132861
Gene: ENSMUSG00000001052
AA Change: Q736K

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

noncoding transcript
Transcript: ENSMUST00000172324

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,795 (GRCm39)	K134R	possibly damaging	Het
Adamts17	T	C	7: 66,774,820 (GRCm39)	S980P	probably damaging	Het
Adap2	T	A	11: 80,061,508 (GRCm39)	I221K	probably damaging	Het
Adgrv1	C	T	13: 81,539,876 (GRCm39)	R5681Q	probably damaging	Het
Adipor1	T	A	1: 134,350,841 (GRCm39)	L30Q	probably benign	Het
Agpat5	A	G	8: 18,928,181 (GRCm39)	T249A	probably benign	Het
Agxt2	G	T	15: 10,392,021 (GRCm39)	G329V	probably damaging	Het
Ankrd28	A	G	14: 31,427,233 (GRCm39)	V801A	possibly damaging	Het
Ap1g2	A	G	14: 55,337,229 (GRCm39)	V702A	possibly damaging	Het
Arid3a	A	G	10: 79,786,540 (GRCm39)	Q429R	probably damaging	Het
Arsb	T	A	13: 93,998,658 (GRCm39)	L322Q	probably damaging	Het
Ash1l	A	G	3: 88,891,729 (GRCm39)	T1203A	probably damaging	Het
Atad2	T	A	15: 57,960,101 (GRCm39)	N1308Y	possibly damaging	Het
Atp10b	A	T	11: 43,121,245 (GRCm39)	R969S	probably benign	Het
Bmp10	T	C	6: 87,410,702 (GRCm39)	I165T	possibly damaging	Het
Ccdc121rt2	C	A	5: 112,597,667 (GRCm39)	C71*	probably null	Het
Ccne1	A	G	7: 37,805,702 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,953,240 (GRCm39)	N1565D	probably damaging	Het
Chd1	A	T	17: 15,982,748 (GRCm39)	E1404D	probably benign	Het
Chd7	G	A	4: 8,847,200 (GRCm39)	E1648K	probably damaging	Het
Chodl	T	C	16: 78,738,314 (GRCm39)	I94T	possibly damaging	Het
Chsy3	T	C	18: 59,542,584 (GRCm39)	F574S	probably damaging	Het
Clpb	A	T	7: 101,412,863 (GRCm39)	I317F	probably damaging	Het
Cnga3	T	A	1: 37,300,954 (GRCm39)	V558D	possibly damaging	Het
Col9a1	C	T	1: 24,261,554 (GRCm39)	P573S	probably damaging	Het
Crat	A	T	2: 30,303,073 (GRCm39)	D71E	probably benign	Het
Cspg4	A	G	9: 56,794,385 (GRCm39)	T707A	probably benign	Het
Ctsr	T	A	13: 61,310,259 (GRCm39)	R132S	probably benign	Het
Ctu2	T	C	8: 123,206,024 (GRCm39)	L255P	probably damaging	Het
Cyp2c69	T	C	19: 39,837,810 (GRCm39)	Y424C	probably damaging	Het
Ddx27	A	T	2: 166,876,029 (GRCm39)	K726N	probably damaging	Het
Dennd4a	A	G	9: 64,749,772 (GRCm39)	Q121R	probably damaging	Het
Dis3	A	G	14: 99,335,026 (GRCm39)	F192S	probably benign	Het
Ect2l	C	T	10: 18,020,383 (GRCm39)	S487N	probably benign	Het
Eml1	T	A	12: 108,487,655 (GRCm39)	F524L	possibly damaging	Het
Espl1	T	C	15: 102,213,477 (GRCm39)	I601T	probably benign	Het
Fbxo40	C	A	16: 36,789,713 (GRCm39)	V466L	probably damaging	Het
Frmpd1	C	T	4: 45,283,711 (GRCm39)	T844M	probably damaging	Het
Frs2	T	A	10: 116,917,011 (GRCm39)		probably benign	Het
Fuom	G	T	7: 139,679,521 (GRCm39)	T133K	probably benign	Het
Garnl3	T	A	2: 32,895,212 (GRCm39)	H619L	probably damaging	Het
Gm4861	G	T	3: 137,257,876 (GRCm39)	N36K	unknown	Het
Gps2	G	T	11: 69,806,195 (GRCm39)	M153I	probably benign	Het
Gtf2ird1	A	G	5: 134,444,099 (GRCm39)	V52A	probably damaging	Het
Gtpbp8	A	T	16: 44,565,785 (GRCm39)	D137E	probably benign	Het
Haus4	A	G	14: 54,781,733 (GRCm39)	C213R	probably damaging	Het
Hdc	T	A	2: 126,448,317 (GRCm39)	H142L	possibly damaging	Het
Hephl1	T	C	9: 14,965,283 (GRCm39)	D1069G	possibly damaging	Het
Herc6	T	A	6: 57,602,926 (GRCm39)	V535D	probably damaging	Het
Hipk3	A	T	2: 104,260,533 (GRCm39)	H1082Q	possibly damaging	Het
Hps5	A	T	7: 46,422,691 (GRCm39)	V513D	probably damaging	Het
Ifna13	T	A	4: 88,562,412 (GRCm39)	I71F	probably damaging	Het
Il1rl2	T	C	1: 40,402,484 (GRCm39)	I426T	probably damaging	Het
Irf5	A	T	6: 29,536,738 (GRCm39)	D483V	probably benign	Het
Jakmip3	A	G	7: 138,621,867 (GRCm39)	R256G	probably damaging	Het
Jazf1	T	C	6: 52,754,600 (GRCm39)	I159V	probably damaging	Het
Kmo	A	G	1: 175,479,154 (GRCm39)	D230G	possibly damaging	Het
Lrrc74b	A	G	16: 17,371,058 (GRCm39)	V213A	probably benign	Het
LTO1	A	G	7: 144,470,205 (GRCm39)	S45G	probably damaging	Het
Ly6g5b	T	C	17: 35,333,704 (GRCm39)	D36G	possibly damaging	Het
Mab21l4	T	C	1: 93,079,730 (GRCm39)	*453W	probably null	Het
Macc1	T	G	12: 119,409,466 (GRCm39)	L78R	probably damaging	Het
Mettl4	A	T	17: 95,055,285 (GRCm39)	D51E	possibly damaging	Het
Mfap1a	G	A	2: 121,332,835 (GRCm39)	L199F	possibly damaging	Het
Mmp17	G	T	5: 129,679,190 (GRCm39)	R363L	probably damaging	Het
Mrc1	G	A	2: 14,324,052 (GRCm39)	A1130T	possibly damaging	Het
Mrpl15	C	T	1: 4,847,805 (GRCm39)	A165T	probably damaging	Het
Mrpl45	G	A	11: 97,206,770 (GRCm39)		probably null	Het
Ms4a3	C	T	19: 11,613,204 (GRCm39)	A85T	possibly damaging	Het
Mttp	A	T	3: 137,830,882 (GRCm39)	D77E	probably benign	Het
Muc6	A	G	7: 141,217,011 (GRCm39)	L2489P	probably damaging	Het
Myl3	G	A	9: 110,595,802 (GRCm39)	E100K	probably damaging	Het
Nbea	T	A	3: 55,992,743 (GRCm39)	N288Y	probably damaging	Het
Ncoa7	A	G	10: 30,574,166 (GRCm39)	V181A	probably benign	Het
Oat	C	T	7: 132,159,934 (GRCm39)	V429M	probably benign	Het
Or2ak6	A	T	11: 58,593,449 (GRCm39)	*307C	probably null	Het
Or4x6	T	G	2: 89,949,427 (GRCm39)	I172L	probably damaging	Het
Or5d36	A	T	2: 87,901,300 (GRCm39)	L142Q	probably damaging	Het
Or5p80	T	C	7: 108,230,045 (GRCm39)	I282T	probably benign	Het
Or5w19	G	A	2: 87,698,805 (GRCm39)	V157I	probably benign	Het
Or6b13	A	G	7: 139,782,144 (GRCm39)	F180L	probably benign	Het
Or6c69b	T	A	10: 129,626,759 (GRCm39)	K233M	probably damaging	Het
Or8b55	A	G	9: 38,727,146 (GRCm39)	T116A	probably benign	Het
Or8s16	T	A	15: 98,211,261 (GRCm39)	M57L	probably damaging	Het
Otof	A	G	5: 30,533,713 (GRCm39)	S1464P	probably benign	Het
Otogl	A	T	10: 107,613,436 (GRCm39)	Y2010N	probably damaging	Het
Pgap3	C	T	11: 98,291,040 (GRCm39)		probably null	Het
Pgbd5	T	A	8: 125,100,988 (GRCm39)	K332*	probably null	Het
Pgs1	C	T	11: 117,896,553 (GRCm39)	P410L	probably damaging	Het
Pkhd1l1	G	A	15: 44,363,434 (GRCm39)	S618N	probably benign	Het
Plcb1	A	T	2: 135,228,222 (GRCm39)	D1073V	probably damaging	Het
Pola2	T	A	19: 6,001,208 (GRCm39)	T309S	probably benign	Het
Polg2	T	A	11: 106,669,787 (GRCm39)	H161L	probably damaging	Het
Postn	T	A	3: 54,285,033 (GRCm39)		probably null	Het
Ppt1	G	T	4: 122,739,784 (GRCm39)	C128F	probably damaging	Het
Ptpn12	G	A	5: 21,198,261 (GRCm39)	P678S	probably damaging	Het
Rcan3	A	T	4: 135,139,812 (GRCm39)		probably null	Het
Rgs22	T	C	15: 36,101,950 (GRCm39)	N216S	probably benign	Het
Rgs7bp	T	A	13: 105,088,090 (GRCm39)	D228V	probably damaging	Het
Rhobtb2	A	T	14: 70,034,062 (GRCm39)	S388T	probably benign	Het
Rnps1	C	T	17: 24,639,364 (GRCm39)	R138C	unknown	Het
Rpl38	T	C	11: 114,562,602 (GRCm39)	V36A	probably benign	Het
Rps7	G	T	12: 28,681,752 (GRCm39)	H126Q	possibly damaging	Het
Slc19a3	A	G	1: 82,997,089 (GRCm39)	V373A	possibly damaging	Het
Spats2l	T	A	1: 57,924,941 (GRCm39)	V113E	probably benign	Het
Ss18l1	A	T	2: 179,705,138 (GRCm39)	T377S	unknown	Het
Surf1	A	G	2: 26,805,982 (GRCm39)	F38L	probably benign	Het
Ticrr	G	A	7: 79,325,142 (GRCm39)	R556H	probably damaging	Het
Tmem184b	A	G	15: 79,250,014 (GRCm39)	S254P	probably damaging	Het
Tnfrsf4	G	T	4: 156,100,692 (GRCm39)	R237L	possibly damaging	Het
Tnk2	C	A	16: 32,482,560 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,305,684 (GRCm39)	D1191E	probably damaging	Het
Tnr	C	A	1: 159,722,607 (GRCm39)	Y1017*	probably null	Het
Tomm34	A	G	2: 163,902,926 (GRCm39)	I128T	probably benign	Het
Trim2	G	A	3: 84,085,099 (GRCm39)	S540F	possibly damaging	Het
Trio	A	T	15: 27,732,977 (GRCm39)	I2968N	probably damaging	Het
Ttc24	T	C	3: 87,982,181 (GRCm39)	E17G	probably benign	Het
Ttc41	A	G	10: 86,612,078 (GRCm39)	H1117R	probably benign	Het
Ttn	A	T	2: 76,565,752 (GRCm39)	V28200D	probably damaging	Het
Ttn	A	T	2: 76,592,730 (GRCm39)	S20801T	possibly damaging	Het
Ube3d	C	T	9: 86,330,840 (GRCm39)	C114Y	probably damaging	Het
Ugt2b37	A	C	5: 87,388,716 (GRCm39)	L499R	probably damaging	Het
Vmn1r81	T	C	7: 11,994,589 (GRCm39)	I6M	possibly damaging	Het
Vmn2r97	A	T	17: 19,149,593 (GRCm39)	Y327F	probably benign	Het
Vps13b	T	C	15: 35,709,653 (GRCm39)	S1867P	probably damaging	Het
Wdr11	T	C	7: 129,208,331 (GRCm39)	V362A	probably benign	Het
Zan	T	A	5: 137,387,201 (GRCm39)	M4951L	unknown	Het
Zcwpw1	T	A	5: 137,809,884 (GRCm39)	L337Q	probably damaging	Het
Zfp2	A	T	11: 50,790,809 (GRCm39)	D411E	possibly damaging	Het
Zfp628	C	T	7: 4,923,767 (GRCm39)	T663I	probably benign	Het
Zfpm1	T	A	8: 123,061,663 (GRCm39)		probably null	Het
Zfyve19	T	C	2: 119,041,693 (GRCm39)	S87P	probably benign	Het
Zswim9	T	A	7: 12,994,141 (GRCm39)	K672*	probably null	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
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
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'- TACAGTGTGGACGTGGACAG -3'
(R):5'- GACAGCTCTTTCTATTCTAGCGTG -3'

Sequencing Primer
(F):5'- GGGGATCCTGTATTTTACAAACCAC -3'
(R):5'- CTCTTTCTATTCTAGCGTGTTGGTGC -3'

Posted On

2014-07-14