Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02663:Sec31b'

302624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec31b

Ensembl Gene

ENSMUSG00000051984

Gene Name

SEC31 homolog B, COPII coat complex component

Synonyms

Sec31l2, LOC240667

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL02663

Quality Score

Status

Chromosome

Chromosomal Location

44505396-44534287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44522717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 92 (A92S)

Ref Sequence

ENSEMBL: ENSMUSP00000107616 (fasta)

Gene Model

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

AlphaFold

Q3TZ89

Predicted Effect

probably damaging
Transcript: ENSMUST00000063632
AA Change: A249S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: A249S

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 damaging
Transcript: ENSMUST00000111985
AA Change: A92S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: A92S

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	C	3: 97,112,648 (GRCm39)	F1269C	probably damaging	Het
Cdc20b	T	A	13: 113,192,665 (GRCm39)		probably null	Het
Chrna1	A	G	2: 73,404,660 (GRCm39)		probably benign	Het
Creb5	A	G	6: 53,657,946 (GRCm39)	H236R	probably damaging	Het
Cyp17a1	A	G	19: 46,661,005 (GRCm39)	F93S	probably damaging	Het
Cyp4a32	T	A	4: 115,467,787 (GRCm39)	L257H	probably damaging	Het
Dnai3	A	T	3: 145,760,312 (GRCm39)	M692K	possibly damaging	Het
Fahd1	C	T	17: 25,068,478 (GRCm39)	G200R	probably damaging	Het
Ifit1	A	G	19: 34,618,380 (GRCm39)		probably benign	Het
Mfhas1	G	T	8: 36,057,060 (GRCm39)	V512L	probably damaging	Het
Myh13	C	T	11: 67,245,753 (GRCm39)	Q1095*	probably null	Het
Nfia	A	G	4: 97,929,856 (GRCm39)	T339A	probably benign	Het
Npas3	T	C	12: 54,115,691 (GRCm39)	L840P	probably damaging	Het
Nsf	T	C	11: 103,821,641 (GRCm39)	T2A	probably benign	Het
Or11g7	A	G	14: 50,691,309 (GRCm39)	T267A	probably benign	Het
Or14j10	A	T	17: 37,934,935 (GRCm39)	I197K	probably benign	Het
Or5b111	A	G	19: 13,290,743 (GRCm39)	V302A	probably benign	Het
P2rx2	C	T	5: 110,488,115 (GRCm39)	E480K	possibly damaging	Het
P2rx2	G	T	5: 110,488,052 (GRCm39)		probably null	Het
Ppp1r8	G	A	4: 132,560,419 (GRCm39)	T94I	probably damaging	Het
S100a11	A	T	3: 93,431,464 (GRCm39)	E33D	probably damaging	Het
Serpina3g	C	T	12: 104,205,399 (GRCm39)	T46I	possibly damaging	Het
Sgo2b	A	T	8: 64,396,148 (GRCm39)	I36N	probably damaging	Het
Slc35e1	A	G	8: 73,242,053 (GRCm39)	L223P	probably damaging	Het
St14	T	C	9: 31,011,678 (GRCm39)		probably null	Het
Sult2a8	A	G	7: 14,159,368 (GRCm39)	Y84H	possibly damaging	Het
Tas1r2	T	C	4: 139,387,593 (GRCm39)	Y322H	probably benign	Het
Tmem59	T	C	4: 107,054,738 (GRCm39)	L181P	probably damaging	Het
Trp73	A	G	4: 154,146,963 (GRCm39)		probably null	Het
Ube2h	A	G	6: 30,241,412 (GRCm39)	V86A	probably damaging	Het
Vmn2r22	A	T	6: 123,626,117 (GRCm39)	H106Q	probably benign	Het
Xirp2	T	C	2: 67,339,802 (GRCm39)	V681A	possibly damaging	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
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
R4226:Sec31b	UTSW	19	44,520,149 (GRCm39)	missense	probably benign
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

Posted On

2015-04-16