Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Sec31b'

221747

Institutional Source

Beutler Lab

Gene Symbol

Sec31b

Ensembl Gene

ENSMUSG00000051984

Gene Name

SEC31 homolog B, COPII coat complex component

Synonyms

Sec31l2, LOC240667

MMRRC Submission

040051-MU

Accession Numbers

Essential gene?

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

Stock #

R2044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44505396-44534287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44524595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 101 (N101D)

Ref Sequence

ENSEMBL: ENSMUSP00000064900 (fasta)

Gene Model

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

AlphaFold

Q3TZ89

Predicted Effect

probably benign
Transcript: ENSMUST00000063632
AA Change: N101D

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: N101D

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

SMART Domains

Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984

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

Meta Mutation Damage Score

0.1006

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 37,288,986 (GRCm39)		probably benign	Het
Abhd15	A	G	11: 77,409,164 (GRCm39)	T293A	probably benign	Het
Aldh1l1	C	T	6: 90,539,647 (GRCm39)	P192L	probably benign	Het
Aldoart1	T	G	4: 72,770,779 (GRCm39)	I10L	probably benign	Het
Ankhd1	G	A	18: 36,778,166 (GRCm39)	G1653D	probably benign	Het
Ankk1	A	C	9: 49,330,664 (GRCm39)		probably null	Het
Astn1	A	G	1: 158,428,072 (GRCm39)	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,781,708 (GRCm39)	R52L	possibly damaging	Het
Ccdc33	G	A	9: 57,938,395 (GRCm39)	P859S	possibly damaging	Het
Ccny	A	G	18: 9,449,644 (GRCm39)	S10P	probably damaging	Het
Cdc6	C	A	11: 98,801,287 (GRCm39)	F179L	probably benign	Het
Cdc7	T	A	5: 107,130,998 (GRCm39)	V491E	probably benign	Het
Cdh23	G	T	10: 60,432,509 (GRCm39)	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,185,614 (GRCm39)	H299R	probably benign	Het
Ciart	A	T	3: 95,786,013 (GRCm39)	M354K	probably benign	Het
Clasrp	G	T	7: 19,320,640 (GRCm39)		probably benign	Het
Col4a3	G	A	1: 82,674,040 (GRCm39)	G1132E	unknown	Het
Crebbp	G	A	16: 3,902,687 (GRCm39)	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,149,640 (GRCm39)	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492 (GRCm39)	R27M	probably null	Het
Ddhd2	A	G	8: 26,242,192 (GRCm39)	F116L	probably damaging	Het
Dgkd	G	A	1: 87,855,413 (GRCm39)	R685K	probably benign	Het
Dnah2	A	G	11: 69,415,066 (GRCm39)	S223P	probably benign	Het
Exph5	A	T	9: 53,283,979 (GRCm39)	R353S	possibly damaging	Het
F11	C	A	8: 45,705,155 (GRCm39)	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,301,317 (GRCm39)	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,824,656 (GRCm39)	I50T	probably damaging	Het
Fam20c	T	C	5: 138,741,982 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,203,912 (GRCm39)	T405A	probably benign	Het
Fbh1	C	A	2: 11,767,781 (GRCm39)	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,981,287 (GRCm39)	Q132*	probably null	Het
Foxo6	T	C	4: 120,144,166 (GRCm39)	D95G	probably benign	Het
Ggt5	T	C	10: 75,439,921 (GRCm39)	F174S	probably damaging	Het
Gm7104	G	A	12: 88,252,551 (GRCm39)		noncoding transcript	Het
Gpr155	A	G	2: 73,203,977 (GRCm39)	L279P	probably damaging	Het
H2-T23	A	G	17: 36,343,083 (GRCm39)	L98P	probably damaging	Het
H4c16	G	C	6: 136,781,101 (GRCm39)	R93G	possibly damaging	Het
Heatr5a	A	G	12: 52,002,186 (GRCm39)	V250A	probably benign	Het
Heyl	A	T	4: 123,135,156 (GRCm39)	I50F	probably damaging	Het
Ifitm10	A	T	7: 141,909,771 (GRCm39)	S179R	probably damaging	Het
Isg15	A	T	4: 156,284,249 (GRCm39)	I93N	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itga10	G	A	3: 96,565,006 (GRCm39)	V985I	probably benign	Het
Kcnt2	T	C	1: 140,302,892 (GRCm39)	I144T	probably benign	Het
Klk1	A	C	7: 43,878,458 (GRCm39)	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,769,347 (GRCm39)	R654L	probably damaging	Het
Lmod1	A	T	1: 135,292,125 (GRCm39)	M327L	probably benign	Het
Lonrf2	T	C	1: 38,846,131 (GRCm39)	E347G	probably benign	Het
Ltbp1	A	G	17: 75,583,427 (GRCm39)	Y409C	probably damaging	Het
Mecom	A	T	3: 30,034,741 (GRCm39)	Y312N	probably damaging	Het
Mmut	A	G	17: 41,252,342 (GRCm39)	T295A	probably benign	Het
Mrgprb3	C	T	7: 48,293,482 (GRCm39)	C23Y	possibly damaging	Het
Nadk	C	A	4: 155,669,898 (GRCm39)	L194I	probably damaging	Het
Naxd	A	G	8: 11,559,510 (GRCm39)	I182V	probably benign	Het
Nbeal1	T	A	1: 60,358,846 (GRCm39)	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,371,441 (GRCm39)	R81L	possibly damaging	Het
Odad3	T	G	9: 21,903,154 (GRCm39)	T419P	possibly damaging	Het
Or4k47	T	A	2: 111,452,159 (GRCm39)	R87W	probably benign	Het
Or8g36	A	T	9: 39,422,674 (GRCm39)	M114K	probably damaging	Het
Or9s15	G	T	1: 92,524,691 (GRCm39)	R150L	probably benign	Het
Pcdh18	A	G	3: 49,709,389 (GRCm39)	V642A	probably benign	Het
Pdzk1	G	A	3: 96,763,164 (GRCm39)		probably benign	Het
Per3	C	T	4: 151,118,395 (GRCm39)	V233I	probably benign	Het
Pisd	G	A	5: 32,922,140 (GRCm39)	P267S	possibly damaging	Het
Prm1	T	A	16: 10,614,357 (GRCm39)		probably benign	Het
Ptprj	A	G	2: 90,293,439 (GRCm39)	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,980,367 (GRCm39)		probably benign	Het
Raver2	T	A	4: 100,960,009 (GRCm39)	V163D	probably damaging	Het
Rbm14	A	T	19: 4,853,905 (GRCm39)	I159N	possibly damaging	Het
Rfx6	G	A	10: 51,594,222 (GRCm39)	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,108,693 (GRCm39)		probably benign	Het
Rpl28-ps4	T	A	6: 117,190,856 (GRCm39)		noncoding transcript	Het
Rsph10b	A	G	5: 143,904,068 (GRCm39)		probably null	Het
Rspo4	A	G	2: 151,715,013 (GRCm39)	K217E	unknown	Het
Scgb2b27	G	A	7: 33,712,710 (GRCm39)	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,061,435 (GRCm39)		probably benign	Het
Sema6a	A	T	18: 47,439,496 (GRCm39)	C9*	probably null	Het
Septin5	A	C	16: 18,441,762 (GRCm39)	L331R	probably benign	Het
Slc16a11	C	A	11: 70,106,477 (GRCm39)	Y238*	probably null	Het
Slc25a12	T	C	2: 71,142,892 (GRCm39)	T210A	probably benign	Het
Slc35f1	A	T	10: 52,965,443 (GRCm39)	Y286F	probably damaging	Het
Szt2	A	T	4: 118,233,645 (GRCm39)	L2225*	probably null	Het
Thap12	T	C	7: 98,365,827 (GRCm39)	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,586,698 (GRCm39)	W237R	probably damaging	Het
Tyk2	T	C	9: 21,031,637 (GRCm39)	D451G	probably damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm39)	N231K	probably benign	Het
Vmn1r225	A	T	17: 20,722,852 (GRCm39)	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 12,865,748 (GRCm39)	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,445,262 (GRCm39)	V821A	probably damaging	Het
Zfp689	C	A	7: 127,043,998 (GRCm39)	G211C	probably damaging	Het
Zfp827	A	G	8: 79,802,865 (GRCm39)	D479G	probably benign	Het
Zfp995	A	C	17: 22,099,575 (GRCm39)	F220V	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCATTACAGTTCAGAGGCAC -3'
(R):5'- TGGGGAAGCCTGCATGATAG -3'

Sequencing Primer
(F):5'- TGGTCAGCTAAGACACAG -3'
(R):5'- CCTGCATGATAGGAGAAGCTG -3'

Posted On

2014-08-25