Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03247:Sec31b'

414440

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 #

IGL03247

Quality Score

Status

Chromosome

Chromosomal Location

44505396-44534287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44507379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 817 (K817N)

Ref Sequence

ENSEMBL: ENSMUSP00000107616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041163] [ENSMUST00000063632] [ENSMUST00000111985]

AlphaFold

Q3TZ89

Predicted Effect

probably benign
Transcript: ENSMUST00000041163

SMART Domains

Protein: ENSMUSP00000042867
Gene: ENSMUSG00000036961

Domain	Start	End	E-Value	Type
WNT1	38	351	1.02e-185	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063632
AA Change: K974N

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: K974N

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

possibly damaging
Transcript: ENSMUST00000111985
AA Change: K817N

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: K817N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165758

SMART Domains

Protein: ENSMUSP00000130598
Gene: ENSMUSG00000051984

Domain	Start	End	E-Value	Type
low complexity region	17	36	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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	A	14: 56,007,553 (GRCm39)	I926F	probably damaging	Het
Agap3	A	G	5: 24,692,820 (GRCm39)	N418D	probably damaging	Het
Alms1	T	C	6: 85,655,579 (GRCm39)	V3375A	possibly damaging	Het
Ankrd6	T	A	4: 32,860,441 (GRCm39)	M1L	possibly damaging	Het
Aox4	A	G	1: 58,303,526 (GRCm39)	D1188G	probably damaging	Het
Car2	T	A	3: 14,952,999 (GRCm39)	L47Q	probably damaging	Het
Catsper2	A	G	2: 121,240,681 (GRCm39)	V107A	probably benign	Het
Catsperg2	T	C	7: 29,416,473 (GRCm39)	N313S	possibly damaging	Het
Dolk	T	C	2: 30,175,523 (GRCm39)	Y174C	probably damaging	Het
Erfe	A	G	1: 91,298,147 (GRCm39)	E219G	probably benign	Het
Ern2	T	C	7: 121,770,894 (GRCm39)	E733G	probably benign	Het
Fam228a	A	G	12: 4,787,734 (GRCm39)	F13S	probably damaging	Het
Fancd2	T	C	6: 113,545,169 (GRCm39)	V829A	probably benign	Het
Gid4	C	A	11: 60,323,169 (GRCm39)	T87N	probably benign	Het
H2-Ob	A	G	17: 34,462,466 (GRCm39)	K152R	probably benign	Het
Ifna2	T	A	4: 88,601,614 (GRCm39)	T135S	probably benign	Het
Il1rapl2	G	A	X: 137,690,429 (GRCm39)	G298D	probably damaging	Het
Mbd1	T	A	18: 74,407,825 (GRCm39)	L174*	probably null	Het
Mga	T	A	2: 119,765,994 (GRCm39)	D1341E	possibly damaging	Het
Mmp12	T	A	9: 7,348,631 (GRCm39)	M54K	probably benign	Het
Mphosph8	T	A	14: 56,916,277 (GRCm39)		probably null	Het
Mrps23	A	G	11: 88,100,922 (GRCm39)		probably benign	Het
Necab1	C	T	4: 14,960,046 (GRCm39)	M300I	probably benign	Het
Nid2	G	A	14: 19,829,688 (GRCm39)	D660N	probably damaging	Het
Or2ag12	T	A	7: 106,276,754 (GRCm39)	H313L	probably benign	Het
Or9r7	T	A	10: 129,962,584 (GRCm39)	E114V	probably damaging	Het
P2ry13	A	T	3: 59,117,013 (GRCm39)	V255D	possibly damaging	Het
Peak1	C	T	9: 56,165,214 (GRCm39)	E905K	probably damaging	Het
Picalm	C	A	7: 89,843,499 (GRCm39)	Q550K	probably benign	Het
Rnf103	T	A	6: 71,487,289 (GRCm39)	V640E	possibly damaging	Het
Shisal2a	A	T	4: 108,225,098 (GRCm39)	C155S	probably benign	Het
Skint2	C	A	4: 112,483,223 (GRCm39)	H209Q	probably benign	Het
Skint5	T	C	4: 113,798,005 (GRCm39)	S193G	probably damaging	Het
Tacr3	A	G	3: 134,635,852 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,753,680 (GRCm39)	M1041V	possibly damaging	Het
Tm4sf1	A	G	3: 57,200,436 (GRCm39)	S89P	possibly damaging	Het
Tusc3	T	A	8: 39,597,931 (GRCm39)	N299K	possibly damaging	Het
Washc4	T	C	10: 83,400,327 (GRCm39)	S418P	probably benign	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
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

2016-08-02