Incidental Mutation 'R0468:Sec31b'
| ID |
41775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| MMRRC Submission |
038668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R0468 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 44506947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000063632
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
| 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 |
|
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,240,084 (GRCm39) |
H1298R |
possibly damaging |
Het |
| 5530400C23Rik |
T |
C |
6: 133,271,421 (GRCm39) |
L155P |
probably benign |
Het |
| 6820408C15Rik |
A |
T |
2: 152,283,186 (GRCm39) |
R283S |
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,354,542 (GRCm39) |
E104D |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,958,958 (GRCm39) |
V22A |
probably benign |
Het |
| Bcl7b |
T |
C |
5: 135,209,737 (GRCm39) |
F188L |
probably benign |
Het |
| Brinp1 |
T |
A |
4: 68,681,013 (GRCm39) |
I506F |
probably damaging |
Het |
| Bsdc1 |
T |
C |
4: 129,355,511 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,923,271 (GRCm39) |
I1075T |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,075,750 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,595,452 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
T |
C |
3: 114,010,707 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,252,042 (GRCm39) |
Y566F |
unknown |
Het |
| Dhx29 |
A |
G |
13: 113,099,811 (GRCm39) |
Q1148R |
probably benign |
Het |
| Ehbp1 |
A |
G |
11: 22,119,184 (GRCm39) |
|
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,112,374 (GRCm39) |
H46R |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,433 (GRCm39) |
V522A |
probably benign |
Het |
| Gm4553 |
C |
A |
7: 141,719,362 (GRCm39) |
C22F |
unknown |
Het |
| Hibadh |
C |
T |
6: 52,534,755 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,260,840 (GRCm39) |
C1613Y |
probably damaging |
Het |
| Hydin |
G |
T |
8: 111,139,855 (GRCm39) |
C708F |
possibly damaging |
Het |
| Ifi208 |
A |
T |
1: 173,511,047 (GRCm39) |
M401L |
probably benign |
Het |
| Igsf8 |
G |
A |
1: 172,146,363 (GRCm39) |
V454M |
probably damaging |
Het |
| Irx4 |
G |
T |
13: 73,414,839 (GRCm39) |
|
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Kcnn2 |
C |
T |
18: 45,692,538 (GRCm39) |
T38M |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,203,630 (GRCm39) |
R400H |
unknown |
Het |
| Lrp6 |
T |
C |
6: 134,462,624 (GRCm39) |
T679A |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,281,510 (GRCm39) |
|
probably null |
Het |
| Men1 |
T |
A |
19: 6,386,953 (GRCm39) |
V5E |
probably null |
Het |
| Mettl14 |
T |
C |
3: 123,165,061 (GRCm39) |
D93G |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,101,568 (GRCm39) |
R4601S |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,878,594 (GRCm39) |
T272A |
probably damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,599 (GRCm39) |
N106I |
probably benign |
Het |
| Or2ak6 |
A |
T |
11: 58,592,619 (GRCm39) |
I31F |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,727,302 (GRCm39) |
|
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,217,877 (GRCm39) |
L502P |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plxna4 |
C |
A |
6: 32,192,181 (GRCm39) |
C803F |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,240,600 (GRCm39) |
|
probably null |
Het |
| Ptgs1 |
A |
G |
2: 36,139,205 (GRCm39) |
Y468C |
probably damaging |
Het |
| Pxdn |
G |
T |
12: 30,044,485 (GRCm39) |
G488W |
probably damaging |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Shank3 |
G |
A |
15: 89,433,478 (GRCm39) |
V1333I |
probably benign |
Het |
| Slamf1 |
A |
G |
1: 171,619,939 (GRCm39) |
|
probably benign |
Het |
| Slc23a3 |
T |
A |
1: 75,109,874 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,338,500 (GRCm39) |
V303A |
probably damaging |
Het |
| Slc7a13 |
T |
A |
4: 19,841,500 (GRCm39) |
V449D |
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,139,590 (GRCm39) |
I453K |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,162,030 (GRCm39) |
V414D |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,333,788 (GRCm39) |
N131D |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,346,267 (GRCm39) |
Y85C |
probably damaging |
Het |
| Vcam1 |
A |
T |
3: 115,909,595 (GRCm39) |
Y577* |
probably null |
Het |
| Vmn1r214 |
A |
G |
13: 23,219,423 (GRCm39) |
T306A |
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,602,048 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,355,690 (GRCm39) |
N305K |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTCAAAGCTGTCCTTCACG -3'
(R):5'- TGAGACATTCATGCCTCCAGCACC -3'
Sequencing Primer
(F):5'- GCCCTGTGACTCAAGGTCATAC -3'
(R):5'- ACCAATTACAGCTCCGCTTAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation