Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01133:Sec31b'

53287

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: 0.113) question?

Stock #

IGL01133

Quality Score

Status

Chromosome

Chromosomal Location

44505396-44534287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44515480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 309 (F309S)

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: F466S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: F466S

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: F309S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: F309S

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adam4	T	C	12: 81,468,220 (GRCm39)	T134A	possibly damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Cartpt	T	G	13: 100,036,548 (GRCm39)	I67L	probably benign	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ccer1	T	C	10: 97,530,401 (GRCm39)	F355L	probably benign	Het
Cert1	A	G	13: 96,751,310 (GRCm39)	E320G	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cfap299	T	C	5: 98,646,240 (GRCm39)		probably null	Het
Cfap36	A	C	11: 29,184,414 (GRCm39)	V114G	probably damaging	Het
Cyp2b9	G	A	7: 25,909,660 (GRCm39)	G476D	probably damaging	Het
Eif3l	T	C	15: 78,961,120 (GRCm39)	Y58H	possibly damaging	Het
Gapvd1	T	C	2: 34,615,410 (GRCm39)	Y411C	probably damaging	Het
Gm27029	G	T	11: 101,302,786 (GRCm39)	F236L	possibly damaging	Het
Golga1	T	C	2: 38,913,484 (GRCm39)	T501A	probably benign	Het
Heg1	C	T	16: 33,547,657 (GRCm39)	H815Y	probably benign	Het
Krt1	A	T	15: 101,756,628 (GRCm39)	D298E	probably damaging	Het
Mecr	T	A	4: 131,570,907 (GRCm39)	S32T	probably benign	Het
Med1	A	T	11: 98,048,812 (GRCm39)	Y661*	probably null	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Pla2g12b	G	T	10: 59,252,239 (GRCm39)	A37S	probably benign	Het
Plekha7	G	T	7: 115,744,476 (GRCm39)		probably null	Het
Ralgapa1	T	C	12: 55,689,133 (GRCm39)	I1989V	probably damaging	Het
Ralgapa1	T	C	12: 55,689,144 (GRCm39)	H1938R	probably damaging	Het
Sanbr	A	T	11: 23,545,434 (GRCm39)	D486E	probably damaging	Het
Serpina3a	T	C	12: 104,087,758 (GRCm39)	I227T	probably benign	Het
Slc1a3	A	G	15: 8,675,171 (GRCm39)	I278T	probably damaging	Het
Slc1a3	T	C	15: 8,680,477 (GRCm39)	Y127C	probably damaging	Het
Spen	T	C	4: 141,217,212 (GRCm39)	K449R	unknown	Het
Thoc2l	A	G	5: 104,665,528 (GRCm39)	T17A	probably benign	Het
Tmem130	A	G	5: 144,689,255 (GRCm39)	S129P	probably damaging	Het
Trim68	A	T	7: 102,328,348 (GRCm39)		probably null	Het
Vdac3-ps1	T	C	13: 18,206,034 (GRCm39)		noncoding transcript	Het
Vmn2r75	A	G	7: 85,797,240 (GRCm39)		probably benign	Het
Zbtb9	G	T	17: 27,193,985 (GRCm39)		probably benign	Het
Zfp568	T	A	7: 29,687,233 (GRCm39)		probably null	Het

Other mutations in Sec31b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21