Incidental Mutation 'R7237:Sec31b'
ID |
562938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sec31b
|
Ensembl Gene |
ENSMUSG00000051984 |
Gene Name |
SEC31 homolog B, COPII coat complex component |
Synonyms |
Sec31l2, LOC240667 |
MMRRC Submission |
045344-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R7237 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44506147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 920
(T920S)
|
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 |
probably damaging
Transcript: ENSMUST00000063632
AA Change: T1077S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064900 Gene: ENSMUSG00000051984 AA Change: T1077S
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: T920S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107616 Gene: ENSMUSG00000051984 AA Change: T920S
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (83/85) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap21 |
A |
T |
2: 20,854,783 (GRCm39) |
C1536* |
probably null |
Het |
Armc9 |
C |
A |
1: 86,092,571 (GRCm39) |
Q169K |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,405,667 (GRCm39) |
M1518K |
possibly damaging |
Het |
AU018091 |
A |
G |
7: 3,209,006 (GRCm39) |
I360T |
probably benign |
Het |
BB014433 |
C |
A |
8: 15,091,765 (GRCm39) |
V363L |
probably benign |
Het |
Bcam |
T |
C |
7: 19,503,232 (GRCm39) |
|
probably null |
Het |
Cacna1g |
T |
C |
11: 94,328,705 (GRCm39) |
S1071G |
probably benign |
Het |
Card9 |
A |
T |
2: 26,246,787 (GRCm39) |
S354T |
probably benign |
Het |
Ccdc87 |
A |
G |
19: 4,889,790 (GRCm39) |
N94S |
probably benign |
Het |
Cdc27 |
A |
G |
11: 104,408,245 (GRCm39) |
V555A |
probably benign |
Het |
Coro1a |
T |
A |
7: 126,299,478 (GRCm39) |
D411V |
probably benign |
Het |
Cybrd1 |
GGTCCTGCAC |
G |
2: 70,948,553 (GRCm39) |
|
probably benign |
Het |
Cyth1 |
A |
T |
11: 118,076,321 (GRCm39) |
I95N |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,179,126 (GRCm39) |
E933V |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 6,993,966 (GRCm39) |
I3968N |
probably benign |
Het |
Fam184a |
T |
C |
10: 53,510,489 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 16,288,510 (GRCm39) |
L338F |
probably damaging |
Het |
Fcgr3 |
A |
G |
1: 170,886,870 (GRCm39) |
L18P |
probably damaging |
Het |
Gbp5 |
T |
C |
3: 142,213,461 (GRCm39) |
V459A |
probably benign |
Het |
Gja4 |
A |
T |
4: 127,205,956 (GRCm39) |
M269K |
probably benign |
Het |
Gm4787 |
A |
G |
12: 81,424,442 (GRCm39) |
V572A |
probably damaging |
Het |
Grin2d |
G |
T |
7: 45,515,600 (GRCm39) |
S131* |
probably null |
Het |
Gys1 |
A |
G |
7: 45,104,586 (GRCm39) |
D671G |
probably benign |
Het |
Haspin |
T |
C |
11: 73,027,712 (GRCm39) |
N459S |
probably benign |
Het |
Hdac10 |
G |
T |
15: 89,009,580 (GRCm39) |
Q451K |
probably benign |
Het |
Hdac9 |
T |
C |
12: 34,424,139 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
G |
1: 150,598,394 (GRCm39) |
V1636A |
probably damaging |
Het |
Hpca |
A |
G |
4: 129,012,407 (GRCm39) |
L43P |
probably damaging |
Het |
Hycc2 |
G |
A |
1: 58,569,107 (GRCm39) |
Q491* |
probably null |
Het |
Insm1 |
C |
A |
2: 146,064,448 (GRCm39) |
A88E |
possibly damaging |
Het |
Itga9 |
A |
G |
9: 118,465,670 (GRCm39) |
K175E |
probably benign |
Het |
Kif13a |
A |
G |
13: 46,962,632 (GRCm39) |
|
probably null |
Het |
Kif20b |
T |
A |
19: 34,928,005 (GRCm39) |
L1089H |
probably damaging |
Het |
Lamp5 |
A |
T |
2: 135,901,755 (GRCm39) |
H152L |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,303,528 (GRCm39) |
F76L |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,935,227 (GRCm39) |
D902G |
probably damaging |
Het |
Map10 |
C |
T |
8: 126,397,963 (GRCm39) |
P452L |
probably benign |
Het |
Mapk6 |
A |
G |
9: 75,304,895 (GRCm39) |
L174P |
probably damaging |
Het |
Meak7 |
C |
T |
8: 120,489,054 (GRCm39) |
G410S |
probably damaging |
Het |
Ndufa4 |
C |
T |
6: 11,906,018 (GRCm39) |
|
probably null |
Het |
Nedd4 |
A |
T |
9: 72,632,346 (GRCm39) |
E393D |
probably benign |
Het |
Nlrp4b |
G |
A |
7: 10,449,143 (GRCm39) |
V449I |
probably benign |
Het |
Nufip2 |
T |
A |
11: 77,583,596 (GRCm39) |
N503K |
probably benign |
Het |
Or10ac1 |
T |
C |
6: 42,515,581 (GRCm39) |
D125G |
probably damaging |
Het |
Or6y1 |
C |
T |
1: 174,276,905 (GRCm39) |
R239C |
probably benign |
Het |
P4ha1 |
A |
G |
10: 59,184,065 (GRCm39) |
T176A |
probably benign |
Het |
Palm3 |
A |
G |
8: 84,756,117 (GRCm39) |
K543R |
probably benign |
Het |
Parvg |
G |
A |
15: 84,225,557 (GRCm39) |
A302T |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,420,023 (GRCm39) |
D1227G |
possibly damaging |
Het |
Pdzd8 |
C |
T |
19: 59,333,571 (GRCm39) |
G150D |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,263,360 (GRCm39) |
|
probably null |
Het |
Pld5 |
T |
C |
1: 176,102,301 (GRCm39) |
Q47R |
possibly damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,997,206 (GRCm39) |
S329G |
possibly damaging |
Het |
Prss56 |
T |
C |
1: 87,112,637 (GRCm39) |
V144A |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,161,769 (GRCm39) |
Y245N |
possibly damaging |
Het |
Ptpn3 |
C |
T |
4: 57,239,625 (GRCm39) |
V302I |
probably damaging |
Het |
Ptprn2 |
A |
G |
12: 117,125,347 (GRCm39) |
H627R |
probably benign |
Het |
Rasgrp2 |
A |
T |
19: 6,454,838 (GRCm39) |
H226L |
possibly damaging |
Het |
Rbm20 |
C |
T |
19: 53,839,930 (GRCm39) |
T973M |
probably benign |
Het |
Rigi |
T |
A |
4: 40,205,938 (GRCm39) |
I885F |
probably benign |
Het |
Riok2 |
T |
A |
17: 17,598,045 (GRCm39) |
L44Q |
probably damaging |
Het |
Rusc1 |
G |
T |
3: 88,998,805 (GRCm39) |
Q326K |
possibly damaging |
Het |
Rxylt1 |
A |
T |
10: 121,917,523 (GRCm39) |
L330* |
probably null |
Het |
Sart3 |
A |
T |
5: 113,892,307 (GRCm39) |
H397Q |
possibly damaging |
Het |
Serpinb13 |
A |
G |
1: 106,926,679 (GRCm39) |
E225G |
probably damaging |
Het |
Slc25a47 |
T |
C |
12: 108,821,386 (GRCm39) |
L165P |
probably damaging |
Het |
Slc2a10 |
G |
A |
2: 165,357,197 (GRCm39) |
V286I |
probably benign |
Het |
Slc39a13 |
G |
T |
2: 90,895,979 (GRCm39) |
T174N |
probably benign |
Het |
Slc7a13 |
T |
A |
4: 19,839,364 (GRCm39) |
N322K |
probably benign |
Het |
Stk38 |
T |
C |
17: 29,193,620 (GRCm39) |
T326A |
possibly damaging |
Het |
Sult1a1 |
T |
C |
7: 126,272,622 (GRCm39) |
M244V |
probably benign |
Het |
Tas2r144 |
C |
T |
6: 42,192,800 (GRCm39) |
T180I |
probably damaging |
Het |
Tbc1d12 |
T |
A |
19: 38,887,346 (GRCm39) |
M366K |
probably benign |
Het |
Terb1 |
T |
C |
8: 105,221,959 (GRCm39) |
I147V |
possibly damaging |
Het |
Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,901,170 (GRCm39) |
L995I |
possibly damaging |
Het |
Trim34b |
A |
G |
7: 103,978,794 (GRCm39) |
T14A |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,588,054 (GRCm39) |
E418G |
probably damaging |
Het |
Vmn1r12 |
T |
A |
6: 57,136,550 (GRCm39) |
C216S |
possibly damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,924,249 (GRCm39) |
V16E |
possibly damaging |
Het |
Vps11 |
A |
T |
9: 44,265,803 (GRCm39) |
V492D |
probably damaging |
Het |
Wdr62 |
A |
C |
7: 29,969,869 (GRCm39) |
|
probably null |
Het |
Zc3h14 |
T |
A |
12: 98,746,408 (GRCm39) |
M539K |
probably benign |
Het |
Zfp871 |
A |
T |
17: 32,994,289 (GRCm39) |
H295Q |
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 |
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 |
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'- GATTAGATGAGCCTACCCCAAC -3'
(R):5'- GTCATTTACAGGAGCAGGGC -3'
Sequencing Primer
(F):5'- AACCCCGGCTCTGACAG -3'
(R):5'- GGAGAGAGCCACCATTCAGTC -3'
|
Posted On |
2019-06-26 |