Incidental Mutation 'R3113:Sec31b'
| ID |
263914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| MMRRC Submission |
040586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R3113 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 44506624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 905
(E905*)
|
| 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 null
Transcript: ENSMUST00000063632
AA Change: E1062*
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: E1062*
| 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 null
Transcript: ENSMUST00000111985
AA Change: E905*
|
| SMART Domains |
Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: E905*
| 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 |
0.9705 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,100,372 (GRCm39) |
Y248* |
probably null |
Het |
| Acta2 |
T |
C |
19: 34,220,752 (GRCm39) |
I319V |
probably benign |
Het |
| Alox15 |
A |
T |
11: 70,235,703 (GRCm39) |
N585K |
probably benign |
Het |
| Ank |
T |
A |
15: 27,571,700 (GRCm39) |
I324N |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,574,813 (GRCm39) |
N99D |
probably damaging |
Het |
| As3mt |
T |
C |
19: 46,703,717 (GRCm39) |
|
probably benign |
Het |
| Atg4b |
C |
T |
1: 93,703,426 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
T |
7: 126,047,541 (GRCm39) |
V705D |
probably damaging |
Het |
| Bves |
T |
C |
10: 45,219,148 (GRCm39) |
V82A |
probably benign |
Het |
| Cad |
C |
A |
5: 31,231,481 (GRCm39) |
H7Q |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,253,740 (GRCm39) |
V387A |
probably benign |
Het |
| Csnk2a1 |
T |
A |
2: 152,105,134 (GRCm39) |
F181Y |
probably damaging |
Het |
| Cwc22 |
A |
T |
2: 77,754,823 (GRCm39) |
|
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,493,877 (GRCm39) |
S36P |
possibly damaging |
Het |
| Dnai2 |
T |
A |
11: 114,642,756 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
T |
19: 5,769,008 (GRCm39) |
M765K |
probably benign |
Het |
| Fitm2 |
T |
C |
2: 163,311,511 (GRCm39) |
Y234C |
probably damaging |
Het |
| Flrt3 |
T |
C |
2: 140,503,454 (GRCm39) |
E58G |
probably benign |
Het |
| Foxs1 |
A |
G |
2: 152,774,156 (GRCm39) |
V299A |
probably benign |
Het |
| Galnt12 |
A |
G |
4: 47,108,415 (GRCm39) |
N184S |
probably benign |
Het |
| Gata6 |
T |
C |
18: 11,063,124 (GRCm39) |
L464P |
probably damaging |
Het |
| Gm17332 |
T |
C |
11: 31,132,384 (GRCm39) |
T27A |
possibly damaging |
Het |
| Ifna11 |
A |
C |
4: 88,738,220 (GRCm39) |
M9L |
probably benign |
Het |
| Ldb3 |
T |
A |
14: 34,251,418 (GRCm39) |
*623L |
probably null |
Het |
| Lrrc27 |
A |
G |
7: 138,798,223 (GRCm39) |
D106G |
probably damaging |
Het |
| Ly6f |
A |
G |
15: 75,143,577 (GRCm39) |
N95D |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,844,512 (GRCm39) |
I1901V |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 24,932,718 (GRCm39) |
Y70C |
probably damaging |
Het |
| Mmut |
G |
A |
17: 41,269,247 (GRCm39) |
G610D |
probably damaging |
Het |
| Mroh1 |
T |
A |
15: 76,292,736 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,399,871 (GRCm39) |
H448R |
unknown |
Het |
| Myh2 |
A |
G |
11: 67,076,012 (GRCm39) |
N733S |
probably damaging |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
| Ocrl |
A |
G |
X: 47,022,304 (GRCm39) |
E258G |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,299 (GRCm39) |
M118K |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,363,012 (GRCm39) |
R305S |
probably benign |
Het |
| Pak1 |
C |
A |
7: 97,515,321 (GRCm39) |
S115* |
probably null |
Het |
| Pilrb1 |
C |
T |
5: 137,853,195 (GRCm39) |
V203I |
possibly damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,742,256 (GRCm39) |
Y1016* |
probably null |
Het |
| Prmt3 |
C |
A |
7: 49,431,760 (GRCm39) |
P121Q |
probably damaging |
Het |
| Rhox6 |
T |
A |
X: 36,916,507 (GRCm39) |
I116N |
possibly damaging |
Het |
| Saxo2 |
A |
C |
7: 82,292,949 (GRCm39) |
F49L |
probably benign |
Het |
| Scn2a |
A |
C |
2: 65,579,129 (GRCm39) |
D1488A |
possibly damaging |
Het |
| Scn5a |
T |
A |
9: 119,314,738 (GRCm39) |
D1989V |
probably damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,592,206 (GRCm39) |
F672I |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,367,058 (GRCm39) |
G650E |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,748,658 (GRCm39) |
F211L |
probably benign |
Het |
| Spef1l |
G |
T |
7: 139,555,878 (GRCm39) |
|
probably benign |
Het |
| Tab1 |
C |
T |
15: 80,032,461 (GRCm39) |
L23F |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 129,977,599 (GRCm39) |
C1078Y |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,644,542 (GRCm39) |
Y13071N |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 102,899,870 (GRCm39) |
V354A |
probably benign |
Het |
| Usp31 |
A |
G |
7: 121,278,736 (GRCm39) |
S210P |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,126,221 (GRCm39) |
D198G |
probably benign |
Het |
| Wrap53 |
A |
G |
11: 69,454,144 (GRCm39) |
V298A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,491 (GRCm39) |
I911V |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,918,752 (GRCm39) |
M78T |
unknown |
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 |
|
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'- ACTTAGGGCAGACTCCAAGC -3'
(R):5'- GAAGGGGTTCTTATTCCCGTAG -3'
Sequencing Primer
(F):5'- GGCAGACTCCAAGCCCTCC -3'
(R):5'- TGGCTCTCAGCTCTGCAG -3'
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| Posted On |
2015-02-05 |
Incidental Mutation