Mutagenetix > Incidental Mutation

Incidental Mutation 'R4886:Sec24b'

375692

Institutional Source

Beutler Lab

Gene Symbol

Sec24b

Ensembl Gene

ENSMUSG00000001052

Gene Name

SEC24 homolog B, COPII coat complex component

Synonyms

SEC24

MMRRC Submission

042492-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R4886 (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 129777619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1226 (H1226Q)

Ref Sequence

ENSEMBL: ENSMUSP00000001079 (fasta)

Gene Model

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

AlphaFold

Q80ZX0

Predicted Effect

probably benign
Transcript: ENSMUST00000001079
AA Change: H1226Q

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

SMART Domains

Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: H1226Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

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 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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	T	2: 32,464,630 (GRCm39)		probably benign	Het
Aagab	G	C	9: 63,543,738 (GRCm39)	A231P	possibly damaging	Het
Adgra3	C	T	5: 50,156,537 (GRCm39)	D398N	probably benign	Het
Ap3b1	A	T	13: 94,609,313 (GRCm39)	D616V	possibly damaging	Het
Apc2	T	A	10: 80,150,047 (GRCm39)	H1700Q	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cdk6	G	T	5: 3,394,444 (GRCm39)	K26N	possibly damaging	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Col6a4	A	G	9: 105,937,271 (GRCm39)	I1415T	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cpz	T	C	5: 35,664,048 (GRCm39)	N496D	probably damaging	Het
Cyp3a59	A	G	5: 146,024,197 (GRCm39)	D61G	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Dbn1	A	T	13: 55,625,355 (GRCm39)		probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhrs7c	G	A	11: 67,700,620 (GRCm39)	V56M	probably damaging	Het
Dnhd1	T	A	7: 105,364,015 (GRCm39)	H4122Q	probably benign	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Glt8d2	T	C	10: 82,487,874 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hcar2	G	A	5: 124,003,260 (GRCm39)	T81M	probably benign	Het
Herpud2	G	A	9: 25,036,285 (GRCm39)	P125L	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	T	C	19: 43,373,203 (GRCm39)	Y142C	probably damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,418 (GRCm39)	N405S	possibly damaging	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
L3mbtl3	T	A	10: 26,168,668 (GRCm39)	E587V	unknown	Het
Leap2	A	T	11: 53,313,653 (GRCm39)	F40I	probably damaging	Het
Leng8	T	A	7: 4,147,930 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Mansc1	T	C	6: 134,587,625 (GRCm39)	H184R	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Med23	T	C	10: 24,750,581 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Mrpl17	T	C	7: 105,459,260 (GRCm39)	N112S	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp14	A	T	7: 106,781,862 (GRCm39)	H353L	probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nphp3	T	C	9: 103,880,193 (GRCm39)	S72P	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8g30	T	C	9: 39,230,881 (GRCm39)	T10A	probably benign	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prkar2a	G	A	9: 108,622,823 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Psg25	A	T	7: 18,258,838 (GRCm39)	D279E	probably benign	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Rnf168	C	A	16: 32,118,014 (GRCm39)	T525K	probably benign	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec63	T	A	10: 42,665,389 (GRCm39)	Y106*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,279,494 (GRCm39)	I91N	possibly damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
St8sia1	G	A	6: 142,859,860 (GRCm39)	L90F	probably damaging	Het
Thsd4	T	A	9: 59,896,313 (GRCm39)	Y657F	probably benign	Het
Thsd7a	A	T	6: 12,327,659 (GRCm39)	C1404*	probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trim3	T	A	7: 105,267,047 (GRCm39)	H444L	probably damaging	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vmn2r19	G	T	6: 123,286,800 (GRCm39)	K144N	probably benign	Het
Wdr41	C	T	13: 95,151,682 (GRCm39)	Q281*	probably null	Het
Zfp938	T	A	10: 82,061,957 (GRCm39)	Q221L	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
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'- CCTTAATCTCTGGCCCAAGC -3'
(R):5'- TAAGTCTTCCAGAACCTCCAGC -3'

Sequencing Primer
(F):5'- CAAGCCTCAGAGTGATGTGCATC -3'
(R):5'- GAACCTCCAGCCATGCCG -3'

Posted On

2016-03-17