Incidental Mutation 'R6185:Sec31b'
| ID |
502146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| MMRRC Submission |
044325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44531723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 62
(I62N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063632]
[ENSMUST00000111985]
|
| AlphaFold |
Q3TZ89 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063632
AA Change: I62N
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: I62N
| 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: ENSMUST00000166808
|
| SMART Domains |
Protein: ENSMUSP00000126763
Gene: ENSMUSG00000091471
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NDUF_B8
|
1 |
71 |
1.5e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (80/83) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,078,089 (GRCm39) |
H894Q |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,919,789 (GRCm39) |
I1024F |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,877,522 (GRCm39) |
V343A |
possibly damaging |
Het |
| Akr1e1 |
T |
A |
13: 4,651,252 (GRCm39) |
I123L |
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,119,026 (GRCm39) |
S267P |
probably benign |
Het |
| Ap2a1 |
T |
G |
7: 44,565,594 (GRCm39) |
K91T |
probably damaging |
Het |
| Bend7 |
A |
T |
2: 4,793,333 (GRCm39) |
Q379L |
probably damaging |
Het |
| Bicdl1 |
C |
T |
5: 115,808,212 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
C |
A |
4: 100,838,228 (GRCm39) |
Y830* |
probably null |
Het |
| Ccdc158 |
T |
A |
5: 92,814,713 (GRCm39) |
I38F |
possibly damaging |
Het |
| Cep97 |
T |
A |
16: 55,735,455 (GRCm39) |
M448L |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,775,765 (GRCm39) |
D2572G |
probably damaging |
Het |
| Clcnkb |
C |
T |
4: 141,141,825 (GRCm39) |
V54M |
probably benign |
Het |
| Cln8 |
A |
G |
8: 14,946,544 (GRCm39) |
D186G |
probably benign |
Het |
| Crxos |
C |
T |
7: 15,636,805 (GRCm39) |
S22L |
possibly damaging |
Het |
| Cx3cr1 |
A |
T |
9: 119,880,444 (GRCm39) |
H319Q |
probably benign |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Dmrta1 |
A |
G |
4: 89,580,005 (GRCm39) |
R322G |
probably damaging |
Het |
| Dpf1 |
A |
G |
7: 29,010,696 (GRCm39) |
E103G |
possibly damaging |
Het |
| Dsg1b |
T |
G |
18: 20,532,543 (GRCm39) |
V529G |
probably benign |
Het |
| Dst |
G |
A |
1: 34,212,161 (GRCm39) |
V1361I |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,483,743 (GRCm39) |
I89V |
probably damaging |
Het |
| Etfdh |
G |
T |
3: 79,513,114 (GRCm39) |
H370N |
probably benign |
Het |
| Fam186a |
A |
G |
15: 99,845,530 (GRCm39) |
I238T |
unknown |
Het |
| Fbxl5 |
T |
A |
5: 43,978,894 (GRCm39) |
S19C |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,270,131 (GRCm39) |
V367A |
probably benign |
Het |
| Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
| Gm19965 |
A |
G |
1: 116,749,003 (GRCm39) |
E228G |
possibly damaging |
Het |
| Gpr89 |
C |
A |
3: 96,798,149 (GRCm39) |
C169F |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,491,189 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
A |
T |
5: 149,541,160 (GRCm39) |
C753S |
probably damaging |
Het |
| Igf2 |
T |
A |
7: 142,212,118 (GRCm39) |
S4C |
possibly damaging |
Het |
| Kansl3 |
A |
T |
1: 36,385,099 (GRCm39) |
S486T |
probably damaging |
Het |
| Khdrbs1 |
G |
C |
4: 129,636,068 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
A |
T |
5: 74,846,269 (GRCm39) |
C60* |
probably null |
Het |
| Lrpprc |
T |
C |
17: 85,074,452 (GRCm39) |
D485G |
probably benign |
Het |
| Ly6i |
A |
T |
15: 74,851,879 (GRCm39) |
S97T |
possibly damaging |
Het |
| Me2 |
G |
A |
18: 73,924,199 (GRCm39) |
Q338* |
probably null |
Het |
| Med16 |
A |
T |
10: 79,732,197 (GRCm39) |
L790Q |
probably damaging |
Het |
| Muc16 |
G |
T |
9: 18,565,769 (GRCm39) |
T2250K |
unknown |
Het |
| Myo10 |
T |
G |
15: 25,726,596 (GRCm39) |
F273C |
probably damaging |
Het |
| Neil3 |
T |
A |
8: 54,052,182 (GRCm39) |
H472L |
probably benign |
Het |
| Nrxn1 |
T |
A |
17: 90,344,564 (GRCm39) |
S57C |
probably damaging |
Het |
| Nup188 |
A |
T |
2: 30,231,722 (GRCm39) |
T1439S |
probably damaging |
Het |
| Or10g3 |
T |
C |
14: 52,610,019 (GRCm39) |
T164A |
possibly damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,420 (GRCm39) |
F105L |
probably benign |
Het |
| Or5w10 |
A |
G |
2: 87,375,087 (GRCm39) |
M267T |
possibly damaging |
Het |
| Otud7a |
T |
A |
7: 63,408,133 (GRCm39) |
L812Q |
probably damaging |
Het |
| Paip2b |
C |
T |
6: 83,786,952 (GRCm39) |
A95T |
probably benign |
Het |
| Pax4 |
C |
T |
6: 28,446,347 (GRCm39) |
V49I |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,931,829 (GRCm39) |
A341T |
probably damaging |
Het |
| Prkag1 |
G |
A |
15: 98,723,595 (GRCm39) |
P10L |
probably benign |
Het |
| R3hdm1 |
A |
C |
1: 128,079,598 (GRCm39) |
D15A |
possibly damaging |
Het |
| Rad54b |
A |
T |
4: 11,593,804 (GRCm39) |
D144V |
possibly damaging |
Het |
| Rmi2 |
C |
T |
16: 10,704,073 (GRCm39) |
T138I |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,189,814 (GRCm39) |
L379P |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,025,244 (GRCm39) |
I285F |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,953,915 (GRCm39) |
N72D |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,471,802 (GRCm39) |
S1261T |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,194,992 (GRCm39) |
Y915* |
probably null |
Het |
| Slc22a27 |
A |
T |
19: 7,903,953 (GRCm39) |
D61E |
probably benign |
Het |
| Slc2a7 |
A |
G |
4: 150,233,450 (GRCm39) |
T8A |
probably benign |
Het |
| Slc5a2 |
T |
C |
7: 127,870,349 (GRCm39) |
I529T |
probably damaging |
Het |
| Spart |
A |
C |
3: 55,024,640 (GRCm39) |
Q78H |
probably damaging |
Het |
| Spocd1 |
T |
C |
4: 129,850,242 (GRCm39) |
I756T |
probably benign |
Het |
| Stc1 |
G |
A |
14: 69,275,813 (GRCm39) |
C202Y |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,527,749 (GRCm39) |
T166A |
probably benign |
Het |
| Syt6 |
A |
T |
3: 103,492,844 (GRCm39) |
D32V |
probably damaging |
Het |
| Tanc1 |
T |
A |
2: 59,621,929 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
T |
A |
11: 105,803,865 (GRCm39) |
N297K |
probably damaging |
Het |
| Telo2 |
A |
G |
17: 25,321,014 (GRCm39) |
S734P |
probably benign |
Het |
| Tfrc |
T |
A |
16: 32,437,090 (GRCm39) |
Y250N |
probably benign |
Het |
| Tmem97 |
C |
T |
11: 78,434,388 (GRCm39) |
W65* |
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,768,621 (GRCm39) |
M476T |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,204,849 (GRCm39) |
T117A |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,490,631 (GRCm39) |
M99L |
probably benign |
Het |
| Uvrag |
A |
C |
7: 98,790,039 (GRCm39) |
|
probably null |
Het |
| Vmn2r63 |
A |
G |
7: 42,578,435 (GRCm39) |
S153P |
probably damaging |
Het |
| Vmn2r90 |
A |
T |
17: 17,953,644 (GRCm39) |
T603S |
probably damaging |
Het |
| Vps8 |
C |
A |
16: 21,288,891 (GRCm39) |
L417I |
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 |
|
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'- AAGTCCCTTTGACCAGCACG -3'
(R):5'- ACCTCTAGAGAAAAGGATGCTCC -3'
Sequencing Primer
(F):5'- TTTGACCAGCACGACCTC -3'
(R):5'- GCTCCCTAACCTATTAGTACCCAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation