Mutagenetix > Incidental Mutation

Incidental Mutation 'R4226:Sec31b'

320060

Institutional Source

Beutler Lab

Gene Symbol

Sec31b

Ensembl Gene

ENSMUSG00000051984

Gene Name

SEC31 homolog B, COPII coat complex component

Synonyms

Sec31l2, LOC240667

MMRRC Submission

041046-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R4226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44505396-44534287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44520149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 212 (M212L)

Ref Sequence

ENSEMBL: ENSMUSP00000107616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063632] [ENSMUST00000111985]

AlphaFold

Q3TZ89

Predicted Effect

probably benign
Transcript: ENSMUST00000063632
AA Change: M369L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: M369L

Domain	Start	End	E-Value	Type
Blast:WD40	56	101	5e-18	BLAST
WD40	110	150	4.76e-6	SMART
WD40	159	197	1.53e1	SMART
WD40	200	245	1.85e0	SMART
WD40	249	289	2.15e-4	SMART
WD40	292	332	6.19e-1	SMART
low complexity region	551	561	N/A	INTRINSIC
low complexity region	822	841	N/A	INTRINSIC
low complexity region	909	929	N/A	INTRINSIC
low complexity region	1009	1018	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111985
AA Change: M212L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: M212L

Domain	Start	End	E-Value	Type
WD40	2	40	1.53e1	SMART
WD40	43	88	1.85e0	SMART
WD40	92	132	2.15e-4	SMART
WD40	135	175	6.19e-1	SMART
Pfam:Sec16_C	394	612	1.3e-7	PFAM
low complexity region	665	684	N/A	INTRINSIC
low complexity region	752	772	N/A	INTRINSIC
low complexity region	852	861	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,690 (GRCm39)	V279E	possibly damaging	Het
Ache	T	C	5: 137,289,152 (GRCm39)	V286A	possibly damaging	Het
Amotl1	T	C	9: 14,504,974 (GRCm39)	N115S	probably benign	Het
Aoah	A	T	13: 21,163,696 (GRCm39)	Y333F	possibly damaging	Het
Ap4m1	A	T	5: 138,171,079 (GRCm39)	R74*	probably null	Het
Arhgef5	C	T	6: 43,256,432 (GRCm39)	A1180V	probably damaging	Het
Birc6	T	C	17: 74,926,835 (GRCm39)		probably null	Het
Capn11	A	G	17: 45,953,392 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,527,756 (GRCm39)	I187L	probably benign	Het
Cfh	A	T	1: 140,036,664 (GRCm39)	C360S	probably damaging	Het
Csmd1	T	C	8: 16,050,490 (GRCm39)	N2249D	probably damaging	Het
Cyb5r4	T	G	9: 86,939,282 (GRCm39)	I355S	probably damaging	Het
Dnm1l	A	T	16: 16,132,251 (GRCm39)	H653Q	possibly damaging	Het
Frmd4a	C	T	2: 4,337,889 (GRCm39)	R32C	probably benign	Het
Gm16503	C	T	4: 147,625,725 (GRCm39)	S73L	unknown	Het
Hnrnpll	A	T	17: 80,357,234 (GRCm39)		probably null	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Mc1r	A	G	8: 124,134,595 (GRCm39)	N116S	possibly damaging	Het
Micu2	T	C	14: 58,169,742 (GRCm39)	K203E	possibly damaging	Het
Mybpc1	C	T	10: 88,409,387 (GRCm39)	W36*	probably null	Het
Nsd1	C	T	13: 55,408,214 (GRCm39)	T1286I	probably damaging	Het
Or2a56	A	G	6: 42,932,689 (GRCm39)	T86A	probably benign	Het
Or51l14	T	C	7: 103,100,784 (GRCm39)	M80T	probably benign	Het
Pnpla3	C	A	15: 84,063,391 (GRCm39)	N256K	probably benign	Het
Polh	A	G	17: 46,483,520 (GRCm39)	S582P	probably benign	Het
Rnaseh2a	G	A	8: 85,686,702 (GRCm39)	T149I	possibly damaging	Het
Ryr1	A	C	7: 28,761,576 (GRCm39)	Y3190*	probably null	Het
Smc4	A	G	3: 68,938,800 (GRCm39)	E950G	probably benign	Het
Tlr1	A	T	5: 65,083,060 (GRCm39)	S506T	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem236	G	T	2: 14,179,437 (GRCm39)	E13*	probably null	Het
Tmprss6	C	T	15: 78,330,899 (GRCm39)	V43M	probably damaging	Het
Vegfc	A	G	8: 54,612,445 (GRCm39)	Y156C	probably damaging	Het
Vmn1r39	T	C	6: 66,781,703 (GRCm39)	H205R	possibly damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zan	T	C	5: 137,422,240 (GRCm39)	N2793D	unknown	Het

Other mutations in Sec31b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Sec31b	APN	19	44,515,480 (GRCm39)	missense	probably damaging	1.00
IGL01308:Sec31b	APN	19	44,512,122 (GRCm39)	missense	probably benign	0.02
IGL02404:Sec31b	APN	19	44,523,227 (GRCm39)	missense	probably damaging	0.99
IGL02663:Sec31b	APN	19	44,522,717 (GRCm39)	missense	probably damaging	1.00
IGL02728:Sec31b	APN	19	44,511,554 (GRCm39)	missense	probably damaging	0.96
IGL02830:Sec31b	APN	19	44,520,142 (GRCm39)	missense	probably damaging	1.00
IGL03141:Sec31b	APN	19	44,514,759 (GRCm39)	splice site	probably benign
IGL03247:Sec31b	APN	19	44,507,379 (GRCm39)	missense	possibly damaging	0.62
R0049:Sec31b	UTSW	19	44,508,847 (GRCm39)	splice site	probably benign
R0137:Sec31b	UTSW	19	44,522,821 (GRCm39)	missense	probably damaging	1.00
R0238:Sec31b	UTSW	19	44,513,908 (GRCm39)	unclassified	probably benign
R0239:Sec31b	UTSW	19	44,513,908 (GRCm39)	unclassified	probably benign
R0468:Sec31b	UTSW	19	44,506,947 (GRCm39)	splice site	probably benign
R0504:Sec31b	UTSW	19	44,523,225 (GRCm39)	missense	probably damaging	1.00
R0565:Sec31b	UTSW	19	44,512,992 (GRCm39)	missense	probably damaging	1.00
R0627:Sec31b	UTSW	19	44,514,046 (GRCm39)	missense	probably benign
R0749:Sec31b	UTSW	19	44,512,945 (GRCm39)	missense	probably damaging	0.96
R0815:Sec31b	UTSW	19	44,506,612 (GRCm39)	nonsense	probably null
R1162:Sec31b	UTSW	19	44,506,087 (GRCm39)	nonsense	probably null
R1398:Sec31b	UTSW	19	44,512,104 (GRCm39)	missense	probably benign	0.04
R1436:Sec31b	UTSW	19	44,524,634 (GRCm39)	missense	probably damaging	0.99
R1538:Sec31b	UTSW	19	44,507,025 (GRCm39)	missense	probably benign	0.42
R1599:Sec31b	UTSW	19	44,511,592 (GRCm39)	missense	possibly damaging	0.92
R2044:Sec31b	UTSW	19	44,524,595 (GRCm39)	missense	probably benign	0.07
R2135:Sec31b	UTSW	19	44,523,135 (GRCm39)	missense	probably damaging	0.99
R2167:Sec31b	UTSW	19	44,531,792 (GRCm39)	missense	possibly damaging	0.89
R2211:Sec31b	UTSW	19	44,511,589 (GRCm39)	missense	probably damaging	1.00
R2938:Sec31b	UTSW	19	44,524,618 (GRCm39)	missense	probably damaging	0.99
R3113:Sec31b	UTSW	19	44,506,624 (GRCm39)	nonsense	probably null
R4110:Sec31b	UTSW	19	44,512,968 (GRCm39)	missense	possibly damaging	0.62
R4111:Sec31b	UTSW	19	44,512,968 (GRCm39)	missense	possibly damaging	0.62
R4113:Sec31b	UTSW	19	44,512,968 (GRCm39)	missense	possibly damaging	0.62
R4158:Sec31b	UTSW	19	44,513,625 (GRCm39)	missense	probably benign	0.34
R4646:Sec31b	UTSW	19	44,515,060 (GRCm39)	missense	probably benign	0.00
R4732:Sec31b	UTSW	19	44,521,116 (GRCm39)	missense	probably damaging	1.00
R4733:Sec31b	UTSW	19	44,521,116 (GRCm39)	missense	probably damaging	1.00
R4795:Sec31b	UTSW	19	44,520,185 (GRCm39)	missense	probably benign	0.00
R4877:Sec31b	UTSW	19	44,524,172 (GRCm39)	missense	probably damaging	1.00
R5150:Sec31b	UTSW	19	44,508,970 (GRCm39)	missense	probably benign	0.08
R5377:Sec31b	UTSW	19	44,507,076 (GRCm39)	missense	probably damaging	1.00
R5381:Sec31b	UTSW	19	44,522,810 (GRCm39)	missense	probably damaging	1.00
R5708:Sec31b	UTSW	19	44,511,583 (GRCm39)	missense	probably damaging	1.00
R6002:Sec31b	UTSW	19	44,524,203 (GRCm39)	missense	probably benign	0.04
R6185:Sec31b	UTSW	19	44,531,723 (GRCm39)	missense	possibly damaging	0.77
R6675:Sec31b	UTSW	19	44,512,214 (GRCm39)	missense	probably benign
R6946:Sec31b	UTSW	19	44,522,755 (GRCm39)	missense	probably damaging	1.00
R7139:Sec31b	UTSW	19	44,507,375 (GRCm39)	missense	probably benign	0.00
R7237:Sec31b	UTSW	19	44,506,147 (GRCm39)	missense	probably damaging	1.00
R7270:Sec31b	UTSW	19	44,511,482 (GRCm39)	missense	probably benign	0.00
R7340:Sec31b	UTSW	19	44,517,161 (GRCm39)	missense	probably benign	0.00
R7505:Sec31b	UTSW	19	44,532,146 (GRCm39)	missense	probably damaging	1.00
R7584:Sec31b	UTSW	19	44,519,995 (GRCm39)	splice site	probably null
R7584:Sec31b	UTSW	19	44,531,762 (GRCm39)	missense	probably damaging	0.99
R7763:Sec31b	UTSW	19	44,512,274 (GRCm39)	critical splice acceptor site	probably null
R7777:Sec31b	UTSW	19	44,512,212 (GRCm39)	nonsense	probably null
R7900:Sec31b	UTSW	19	44,514,669 (GRCm39)	missense	probably damaging	1.00
R7952:Sec31b	UTSW	19	44,508,979 (GRCm39)	missense	probably benign	0.01
R8057:Sec31b	UTSW	19	44,507,804 (GRCm39)	missense	probably damaging	1.00
R8197:Sec31b	UTSW	19	44,512,955 (GRCm39)	missense	probably benign	0.25
R8739:Sec31b	UTSW	19	44,507,620 (GRCm39)	missense	probably benign	0.16
R8822:Sec31b	UTSW	19	44,507,702 (GRCm39)	missense	probably benign	0.02
R8837:Sec31b	UTSW	19	44,506,106 (GRCm39)	nonsense	probably null
R8916:Sec31b	UTSW	19	44,520,783 (GRCm39)	missense
R9069:Sec31b	UTSW	19	44,507,741 (GRCm39)	missense	probably damaging	0.98
R9259:Sec31b	UTSW	19	44,505,855 (GRCm39)	missense	probably damaging	1.00
R9493:Sec31b	UTSW	19	44,509,021 (GRCm39)	missense	probably damaging	1.00
RF023:Sec31b	UTSW	19	44,524,226 (GRCm39)	missense	probably damaging	1.00
Z1177:Sec31b	UTSW	19	44,505,753 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAAAGGGTCTCAGGCTCTC -3'
(R):5'- GAGTTCCTCGCTGAGATGTC -3'

Sequencing Primer
(F):5'- GTCTCAGGCTCTCACCGTAAG -3'
(R):5'- CTCTCAGTACTGGTGGCCTAG -3'

Posted On

2015-06-12