Mutagenetix > Incidental Mutations

Incidental Mutation 'R0194:Sec24b'

23274

Institutional Source

Beutler Lab

Gene Symbol

Sec24b

Ensembl Gene

ENSMUSG00000001052

Gene Name

Sec24 related gene family, member B (S. cerevisiae)

Synonyms

SEC24

MMRRC Submission

038453-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.790) question?

Stock #

R0194 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

129982759-130061553 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 129984165 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001079 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000001079

SMART Domains

Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052

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

noncoding transcript
Transcript: ENSMUST00000164758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172324

Meta Mutation Damage Score

0.9483

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	T	A	4: 35,197,207	D122V	probably damaging	Het
4930553M12Rik	T	A	4: 88,868,243	D46V	unknown	Het
Abcb9	A	G	5: 124,077,295	V461A	probably damaging	Het
Ackr4	T	A	9: 104,099,480	L89F	probably benign	Het
Acsf2	T	C	11: 94,561,370	T449A	probably benign	Het
Acsl4	C	G	X: 142,333,718	G489R	probably damaging	Het
Actl6a	T	A	3: 32,725,320	I399N	probably damaging	Het
Adamts19	G	A	18: 59,011,148	C934Y	probably null	Het
Adsl	A	G	15: 80,961,360	E40G	possibly damaging	Het
AI481877	T	A	4: 59,066,534		probably benign	Het
Alppl2	T	G	1: 87,088,743	D203A	probably damaging	Het
Asb10	C	A	5: 24,537,932	A268S	probably benign	Het
Atp9a	T	C	2: 168,643,885	S832G	probably benign	Het
Bckdha	A	T	7: 25,631,450	I297N	probably damaging	Het
Blm	G	A	7: 80,464,946		probably benign	Het
Cacna1h	A	G	17: 25,380,924		probably benign	Het
Camsap2	G	A	1: 136,292,948	Q298*	probably null	Het
Ccdc38	A	T	10: 93,565,912	K145*	probably null	Het
Cfap45	C	T	1: 172,541,327	T434M	probably benign	Het
Cfap54	A	T	10: 93,034,662		probably benign	Het
Clcn6	G	A	4: 148,012,756	P618L	probably damaging	Het
Copg1	T	C	6: 87,904,197		probably benign	Het
Dctd	T	A	8: 48,112,078	N79K	probably benign	Het
Dgkq	A	G	5: 108,654,644		probably benign	Het
Dntt	A	T	19: 41,038,970	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,003,656	R29Q	probably benign	Het
Dsg3	A	G	18: 20,540,142	T957A	probably damaging	Het
Eif3c	T	A	7: 126,558,623		probably benign	Het
Ephb3	T	A	16: 21,218,109	D107E	probably benign	Het
Esrrb	A	T	12: 86,470,481	D108V	probably damaging	Het
Exo1	A	G	1: 175,892,030	K214E	probably damaging	Het
Fam186a	G	A	15: 99,941,763	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,640,669	W194*	probably null	Het
Foxn4	A	G	5: 114,259,748		probably null	Het
Gabbr2	T	C	4: 46,787,565	K366R	possibly damaging	Het
Garem2	T	A	5: 30,113,930	V130E	probably damaging	Het
Grin2b	A	G	6: 135,779,305	F474S	probably damaging	Het
H2-M10.6	G	T	17: 36,814,042	V284F	probably damaging	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,155,435	V384F	probably damaging	Het
Hmox1	A	G	8: 75,097,108	T135A	probably damaging	Het
Hpse	T	C	5: 100,719,512	D28G	probably benign	Het
Itm2b	G	T	14: 73,364,618	D213E	probably benign	Het
Jakmip1	T	A	5: 37,134,283	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,624,594	Q151R	probably null	Het
Limch1	C	A	5: 66,999,273	A517E	probably benign	Het
Lrit1	T	A	14: 37,061,720	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,499,790	V1603A	possibly damaging	Het
Mbtps1	T	A	8: 119,535,369	N347I	probably damaging	Het
Mier1	A	T	4: 103,139,519		probably null	Het
Mt2	A	T	8: 94,172,848	M1L	probably damaging	Het
Mug1	A	T	6: 121,840,107	E45V	probably damaging	Het
Mybphl	A	G	3: 108,374,168	K67E	probably benign	Het
Myh4	A	G	11: 67,252,336	K1030R	probably damaging	Het
Myl3	T	A	9: 110,769,121	D176E	probably benign	Het
Ncapg2	A	G	12: 116,420,683		probably null	Het
Ndor1	T	C	2: 25,248,706		probably null	Het
Nedd4	T	G	9: 72,670,053	N53K	possibly damaging	Het
Nek11	C	A	9: 105,392,952	A24S	probably benign	Het
Nudt19	G	T	7: 35,551,514	P267T	probably benign	Het
Olfml2b	T	C	1: 170,681,115	M514T	possibly damaging	Het
Olfr304	A	T	7: 86,386,374	C95*	probably null	Het
Olfr424	A	T	1: 174,136,761	T6S	probably benign	Het
Olfr556	A	G	7: 102,670,199	D93G	probably benign	Het
Olfr699	C	A	7: 106,790,823	M59I	probably benign	Het
P3h1	T	A	4: 119,237,952	F302Y	probably damaging	Het
Pappa2	T	A	1: 158,765,101		probably benign	Het
Pex2	A	C	3: 5,561,364	H128Q	probably benign	Het
Phf11d	A	C	14: 59,352,731	L214R	probably damaging	Het
Plcg2	G	A	8: 117,573,397		probably benign	Het
Ppargc1b	A	C	18: 61,307,945	L634R	possibly damaging	Het
Prune1	A	T	3: 95,262,360	I177N	probably damaging	Het
Puf60	T	C	15: 76,070,485	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,196,163		probably null	Het
Sdr42e1	A	T	8: 117,663,109	F264L	probably damaging	Het
Sgta	G	T	10: 81,051,059	P79T	probably benign	Het
Shisa9	C	T	16: 11,984,954	T125M	probably damaging	Het
Slc12a2	A	G	18: 57,930,211	D921G	probably damaging	Het
Slc13a5	C	T	11: 72,245,233	V494I	probably benign	Het
Slc13a5	T	A	11: 72,262,130	I42L	possibly damaging	Het
Spire2	G	A	8: 123,363,011		probably benign	Het
Sptbn4	G	A	7: 27,404,911	R962C	probably benign	Het
St8sia5	G	A	18: 77,254,724	V377I	probably benign	Het
Stag2	T	G	X: 42,206,137		probably benign	Het
Syne1	C	A	10: 5,424,311	M165I	probably benign	Het
Synm	C	A	7: 67,734,924	V997L	probably damaging	Het
Tacc1	A	G	8: 25,182,376	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,212,901		probably null	Het
Tbc1d19	A	G	5: 53,860,156	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,218,517	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,742,398	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 145,224,812	I186N	probably benign	Het
Trim55	A	G	3: 19,661,861	D195G	probably benign	Het
Trpm3	G	T	19: 22,715,356		probably null	Het
Ttc39a	T	A	4: 109,444,179	S571T	probably benign	Het
Vwf	T	G	6: 125,643,297	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,314,282	F340S	possibly damaging	Het
Yeats2	T	C	16: 20,152,969	M1T	probably null	Het
Zfp236	T	A	18: 82,656,987	E460V	probably damaging	Het
Zfp277	G	A	12: 40,378,877		probably benign	Het
Zfp975	T	A	7: 42,662,492	K232N	probably benign	Het
Zxdc	T	C	6: 90,372,537		probably benign	Het

Other mutations in Sec24b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Sec24b	APN	3	130020646	intron	probably benign
IGL01137:Sec24b	APN	3	130007444	missense	probably benign	0.02
IGL01370:Sec24b	APN	3	130007604	splice site	probably benign
IGL01931:Sec24b	APN	3	130009799	missense	probably benign	0.00
PIT4696001:Sec24b	UTSW	3	129994391	missense	probably benign	0.01
R0193:Sec24b	UTSW	3	129988984	missense	probably null
R0403:Sec24b	UTSW	3	129989676	missense	possibly damaging	0.81
R0403:Sec24b	UTSW	3	129999534	missense	probably damaging	1.00
R0576:Sec24b	UTSW	3	130041336	missense	probably benign	0.11
R0583:Sec24b	UTSW	3	130041311	nonsense	probably null
R0963:Sec24b	UTSW	3	130040905	missense	probably benign	0.02
R0967:Sec24b	UTSW	3	129996782	missense	probably damaging	1.00
R1344:Sec24b	UTSW	3	130007423	missense	probably damaging	1.00
R1418:Sec24b	UTSW	3	130007423	missense	probably damaging	1.00
R1594:Sec24b	UTSW	3	129991351	missense	probably benign	0.00
R1716:Sec24b	UTSW	3	130041016	missense	possibly damaging	0.89
R1938:Sec24b	UTSW	3	129991361	missense	possibly damaging	0.82
R2020:Sec24b	UTSW	3	129987728	missense	probably damaging	1.00
R2407:Sec24b	UTSW	3	130002316	missense	probably benign	0.02
R2415:Sec24b	UTSW	3	129996080	missense	probably benign	0.00
R3121:Sec24b	UTSW	3	130002304	critical splice donor site	probably null
R3729:Sec24b	UTSW	3	130033833	missense	possibly damaging	0.95
R3731:Sec24b	UTSW	3	130033833	missense	possibly damaging	0.95
R3789:Sec24b	UTSW	3	130020627	missense	probably benign	0.00
R4229:Sec24b	UTSW	3	130040719	missense	probably benign	0.24
R4230:Sec24b	UTSW	3	130040719	missense	probably benign	0.24
R4617:Sec24b	UTSW	3	130040764	missense	possibly damaging	0.94
R4856:Sec24b	UTSW	3	129983970	missense	probably benign	0.07
R4886:Sec24b	UTSW	3	129983970	missense	probably benign	0.07
R4913:Sec24b	UTSW	3	130002379	missense	probably benign	0.07
R5510:Sec24b	UTSW	3	130040895	missense	probably damaging	1.00
R5601:Sec24b	UTSW	3	130040834	small insertion	probably benign
R6167:Sec24b	UTSW	3	129988901	missense	possibly damaging	0.88
R6314:Sec24b	UTSW	3	130007245	splice site	probably null
R6442:Sec24b	UTSW	3	129996701	missense	probably damaging	1.00
R6512:Sec24b	UTSW	3	130041297	missense	probably damaging	1.00
R6743:Sec24b	UTSW	3	130041232	missense	probably damaging	0.98
R7081:Sec24b	UTSW	3	129987742	missense	probably benign	0.00
R7179:Sec24b	UTSW	3	129988946	missense	probably damaging	1.00
R7214:Sec24b	UTSW	3	130033860	missense	probably benign	0.19
R7332:Sec24b	UTSW	3	130041393	missense	probably benign	0.10
R7414:Sec24b	UTSW	3	130009865	missense	probably benign	0.01
R7599:Sec24b	UTSW	3	130040811	small insertion	probably benign
R7774:Sec24b	UTSW	3	129984197	missense	possibly damaging	0.88
R7895:Sec24b	UTSW	3	129995949	missense	probably benign	0.13
R8146:Sec24b	UTSW	3	129995924	nonsense	probably null
R8217:Sec24b	UTSW	3	130040950	missense	possibly damaging	0.94
R8344:Sec24b	UTSW	3	130005001	missense	probably damaging	0.97
R8525:Sec24b	UTSW	3	130011818	missense	probably damaging	1.00
R8699:Sec24b	UTSW	3	130005004	missense	probably damaging	1.00
R8783:Sec24b	UTSW	3	129989693	missense	probably benign
R8929:Sec24b	UTSW	3	130009858	missense	possibly damaging	0.80
X0065:Sec24b	UTSW	3	129996355	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGTCTTCAAGCAAATGCTGGAAAA -3'
(R):5'- CCCAAACGCTGTTCATTGTGAATGT -3'

Sequencing Primer
(F):5'- AAAAAGTCTGTTTTGGCAGGG -3'
(R):5'- CTGTTTTCTAAAAGGAATGTAGCCTG -3'

Posted On

2013-04-16