Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Sec24b'

668912

Institutional Source

Beutler Lab

Gene Symbol

Sec24b

Ensembl Gene

ENSMUSG00000001052

Gene Name

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

Synonyms

SEC24

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129982759-130061553 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130005004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 572 (R572I)

Ref Sequence

ENSEMBL: ENSMUSP00000001079 (fasta)

Gene Model

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

AlphaFold

Q80ZX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000001079
AA Change: R572I

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

SMART Domains

Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: R572I

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 damaging
Transcript: ENSMUST00000165873
AA Change: R309I

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

SMART Domains

Protein: ENSMUSP00000132861
Gene: ENSMUSG00000001052
AA Change: R309I

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 benign
Transcript: ENSMUST00000168644

SMART Domains

Protein: ENSMUSP00000126923
Gene: ENSMUSG00000001052

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,931,057	K82E	probably benign	Het
4933430I17Rik	T	C	4: 62,532,278	W30R	probably damaging	Het
Abca3	A	G	17: 24,408,225	D1555G	probably benign	Het
Anapc1	T	C	2: 128,641,453	T1241A	probably damaging	Het
Ano5	G	A	7: 51,593,771	V881I	probably benign	Het
Appl1	G	A	14: 26,940,255	S490L	probably benign	Het
Asxl3	A	G	18: 22,434,607	T81A	probably benign	Het
Bclaf1	T	C	10: 20,333,438	S754P	possibly damaging	Het
Bicra	G	T	7: 15,989,188	Q135K	probably benign	Het
Cad	T	C	5: 31,076,261	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,341,116	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,565,114	I59T	probably damaging	Het
Ccr6	C	T	17: 8,256,566	T201M	probably benign	Het
Cd5	A	G	19: 10,725,192	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,361	D1017E	probably damaging	Het
Cntnap4	A	T	8: 112,757,596	D427V	probably damaging	Het
Col4a4	T	A	1: 82,455,734	N1496I	unknown	Het
Crybg3	A	G	16: 59,554,928	Y274H	probably damaging	Het
Cubn	C	A	2: 13,383,959	S1479I	probably damaging	Het
Diras2	A	T	13: 52,508,107	C55S	probably damaging	Het
Dleu7	G	A	14: 62,292,830	R41C	probably benign	Het
Exo5	A	G	4: 120,921,996	I224T	probably damaging	Het
Fcho1	T	C	8: 71,709,633	I774V	possibly damaging	Het
Gclm	T	G	3: 122,266,323	S251A	possibly damaging	Het
Gm11639	A	G	11: 104,781,246	T1464A	probably benign	Het
Gm13889	T	C	2: 93,956,982	Q49R	unknown	Het
Gm35315	T	A	5: 110,080,526	H18L	probably benign	Het
Gm9949	G	A	18: 62,183,972	G65R	unknown	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gria4	C	A	9: 4,424,347	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351	Y838S	probably damaging	Het
Hrh3	A	G	2: 180,101,356	W160R	probably damaging	Het
Htr4	G	A	18: 62,437,692	A273T	probably damaging	Het
Lig3	G	T	11: 82,794,550	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,282,195	V1594E		Het
Map3k10	A	T	7: 27,668,355	V286D	probably damaging	Het
Map4k4	T	A	1: 39,976,750	V117E	unknown	Het
Mdga1	C	T	17: 29,842,374	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363	L248F	possibly damaging	Het
Ncaph	T	C	2: 127,121,176	D379G	possibly damaging	Het
Neb	A	G	2: 52,147,234	V7064A	probably benign	Het
Neb	G	A	2: 52,212,551	T4570M	probably benign	Het
Npy5r	G	T	8: 66,681,622	T173K	probably damaging	Het
Olfr1002	A	T	2: 85,647,986	C112S	possibly damaging	Het
Olfr1037	A	T	2: 86,085,174	I201N	probably damaging	Het
Olfr1442	A	G	19: 12,674,882	M226V	probably benign	Het
Olfr1447	A	T	19: 12,901,464	F105L	possibly damaging	Het
Olfr622	A	T	7: 103,639,615	I175N	probably damaging	Het
Oxsm	A	G	14: 16,242,631	I46T	possibly damaging	Het
Pcdha1	A	T	18: 36,931,023	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,742,922	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,496,587	S304C	probably damaging	Het
Pramef6	A	T	4: 143,897,192	N137K	probably benign	Het
Ptprd	A	T	4: 76,041,392	F279I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rest	G	A	5: 77,281,542	G603R	probably benign	Het
Rgs17	A	T	10: 5,918,194	L9M	probably benign	Het
Rtp1	A	G	16: 23,431,383	Y166C	probably damaging	Het
Setd1a	G	T	7: 127,786,602	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,701,891	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stat4	T	A	1: 52,071,937	M181K	probably benign	Het
Stk16	A	G	1: 75,212,038	E67G	probably benign	Het
Supv3l1	A	G	10: 62,432,455	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,783,535	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,582,294		probably benign	Het
Tpr	T	A	1: 150,418,021	I922N	probably damaging	Het
Uaca	G	T	9: 60,871,065	L911F	probably damaging	Het
Ubn1	A	T	16: 5,063,703	I200L	possibly damaging	Het
Ush2a	A	G	1: 188,911,377	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,606,655	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,808,809	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,178,760	N15K	probably benign	Het
Wdr46	T	A	17: 33,948,852	I513N	probably damaging	Het
Wdr60	T	C	12: 116,207,701	T972A	probably benign	Het
Zfp788	A	G	7: 41,648,416	N159D	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
R0194:Sec24b	UTSW	3	129984165	critical splice donor site	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
R8783:Sec24b	UTSW	3	129989693	missense	probably benign
R8929:Sec24b	UTSW	3	130009858	missense	possibly damaging	0.80
R8967:Sec24b	UTSW	3	129991435	missense	probably damaging	1.00
R9332:Sec24b	UTSW	3	130007571	missense	probably benign	0.01
R9355:Sec24b	UTSW	3	129993840	missense	possibly damaging	0.60
R9660:Sec24b	UTSW	3	129996773	missense	probably damaging	1.00
R9728:Sec24b	UTSW	3	129996773	missense	probably damaging	1.00
R9781:Sec24b	UTSW	3	129996093	missense	probably damaging	0.98
X0065:Sec24b	UTSW	3	129996355	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGCATGTTCCACGGGATG -3'
(R):5'- CCTAAGTAGTTGACACTCAGCTC -3'

Sequencing Primer
(F):5'- CCATAGCCTGAACATGGAGGTC -3'
(R):5'- CTCAGCTCTTTGAGGGTACG -3'

Posted On

2021-04-30