Incidental Mutation 'R4113:Sec31b'
ID |
314533 |
Institutional Source |
Beutler Lab
|
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)
|
Stock # |
R4113 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 44512968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 507
(T507N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063632]
[ENSMUST00000111985]
|
AlphaFold |
Q3TZ89 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063632
AA Change: T664N
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000064900 Gene: ENSMUSG00000051984 AA Change: T664N
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: T507N
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107616 Gene: ENSMUSG00000051984 AA Change: T507N
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 |
|
Meta Mutation Damage Score |
0.0911 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.6%
- 20x: 96.1%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,005,827 (GRCm39) |
M458T |
probably benign |
Het |
Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
Catsper3 |
A |
G |
13: 55,934,183 (GRCm39) |
K35E |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 38,993,615 (GRCm39) |
I236N |
probably damaging |
Het |
Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,414,722 (GRCm39) |
L41P |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,003,420 (GRCm39) |
K514R |
possibly damaging |
Het |
Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Eya4 |
G |
T |
10: 23,031,849 (GRCm39) |
S235Y |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gdf3 |
A |
G |
6: 122,584,016 (GRCm39) |
I117T |
probably damaging |
Het |
Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c4 |
G |
A |
2: 28,717,567 (GRCm39) |
T771I |
probably damaging |
Het |
Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
Irak1bp1 |
T |
C |
9: 82,728,728 (GRCm39) |
S220P |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,071,698 (GRCm39) |
V862I |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Or14a258 |
G |
A |
7: 86,035,733 (GRCm39) |
T45M |
possibly damaging |
Het |
Or4b12 |
A |
T |
2: 90,096,684 (GRCm39) |
L30H |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,004,953 (GRCm39) |
D927G |
probably damaging |
Het |
Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,032,808 (GRCm39) |
D1015G |
probably damaging |
Het |
Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
Riox2 |
C |
T |
16: 59,312,257 (GRCm39) |
L465F |
probably benign |
Het |
Stab1 |
C |
T |
14: 30,890,436 (GRCm39) |
R5Q |
probably damaging |
Het |
Stmn3 |
T |
C |
2: 180,949,089 (GRCm39) |
K135E |
possibly damaging |
Het |
Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
Tasor |
C |
T |
14: 27,181,918 (GRCm39) |
R483* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tshz2 |
C |
A |
2: 169,727,450 (GRCm39) |
P213Q |
probably benign |
Het |
Tssk4 |
A |
G |
14: 55,887,830 (GRCm39) |
T9A |
probably benign |
Het |
Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,315,691 (GRCm39) |
D125G |
probably benign |
Het |
Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
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 |
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'- TCTTCCTGACATTAGGCACGG -3'
(R):5'- TGAGTTGTCTTAAAGCCAGTGAAG -3'
Sequencing Primer
(F):5'- CCCTAAAACTTGGTTCTAGCTAAC -3'
(R):5'- GACACTTGTCTGAGAGATCACAGTC -3'
|
Posted On |
2015-05-14 |