Incidental Mutation 'R7952:Sec31b'
| ID |
649642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| MMRRC Submission |
045996-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R7952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44508979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 667
(S667P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063632]
[ENSMUST00000111985]
|
| AlphaFold |
Q3TZ89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063632
AA Change: S824P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: S824P
| 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
AA Change: S667P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: S667P
| 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 |
unknown
Transcript: ENSMUST00000165758
AA Change: S18P
|
| SMART Domains |
Protein: ENSMUSP00000130598
Gene: ENSMUSG00000051984
AA Change: S18P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (47/48) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,579,903 (GRCm39) |
S516P |
possibly damaging |
Het |
| Adora1 |
A |
G |
1: 134,131,024 (GRCm39) |
S216P |
possibly damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,885,914 (GRCm39) |
S739R |
probably benign |
Het |
| Bphl |
A |
G |
13: 34,230,780 (GRCm39) |
T75A |
probably benign |
Het |
| Ccdc73 |
G |
A |
2: 104,775,801 (GRCm39) |
|
probably null |
Het |
| Cela3b |
T |
C |
4: 137,149,219 (GRCm39) |
I262V |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,455,586 (GRCm39) |
N55S |
probably benign |
Het |
| Chst8 |
A |
G |
7: 34,374,919 (GRCm39) |
Y307H |
probably damaging |
Het |
| Cmtm2b |
G |
T |
8: 105,057,203 (GRCm39) |
E188* |
probably null |
Het |
| Cmya5 |
TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG |
TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG |
13: 93,233,512 (GRCm39) |
|
probably benign |
Het |
| Cxadr |
C |
T |
16: 78,131,123 (GRCm39) |
T213M |
possibly damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,703,096 (GRCm39) |
|
probably null |
Het |
| Dhx32 |
T |
C |
7: 133,350,725 (GRCm39) |
Y115C |
probably benign |
Het |
| Dop1b |
C |
A |
16: 93,546,848 (GRCm39) |
T284K |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,129,802 (GRCm39) |
V1732A |
possibly damaging |
Het |
| Egf |
C |
T |
3: 129,533,645 (GRCm39) |
R65Q |
probably damaging |
Het |
| Fat4 |
T |
G |
3: 38,945,870 (GRCm39) |
S1588A |
probably damaging |
Het |
| Fmnl3 |
A |
G |
15: 99,220,518 (GRCm39) |
V588A |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,928,186 (GRCm39) |
E237K |
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,298,633 (GRCm39) |
I363V |
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,598,340 (GRCm39) |
T769I |
probably damaging |
Het |
| Hpd |
A |
T |
5: 123,316,327 (GRCm39) |
D141E |
possibly damaging |
Het |
| Hrc |
A |
T |
7: 44,985,692 (GRCm39) |
D281V |
probably damaging |
Het |
| Igfn1 |
A |
T |
1: 135,891,693 (GRCm39) |
I2274K |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,005,677 (GRCm39) |
I502V |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,266,493 (GRCm39) |
Q835L |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,748,649 (GRCm39) |
G2892R |
unknown |
Het |
| Lama4 |
T |
G |
10: 38,906,486 (GRCm39) |
I284S |
probably benign |
Het |
| Madd |
C |
A |
2: 90,992,886 (GRCm39) |
G1011V |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,980,693 (GRCm39) |
F1421L |
probably damaging |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nedd9 |
C |
A |
13: 41,470,431 (GRCm39) |
D241Y |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,007,552 (GRCm39) |
V434A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,433,781 (GRCm39) |
R108Q |
probably benign |
Het |
| Or10al2 |
T |
C |
17: 37,983,708 (GRCm39) |
Y265H |
probably damaging |
Het |
| Or51g1 |
A |
G |
7: 102,633,721 (GRCm39) |
F217L |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pramel41 |
T |
C |
5: 94,594,902 (GRCm39) |
V254A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,132 (GRCm39) |
Y251H |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,862,760 (GRCm39) |
V573A |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,661,313 (GRCm39) |
|
probably null |
Het |
| Smim17 |
A |
G |
7: 6,427,849 (GRCm39) |
D45G |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,464,263 (GRCm39) |
T3906A |
probably damaging |
Het |
| Tanc2 |
G |
T |
11: 105,787,423 (GRCm39) |
G908W |
probably damaging |
Het |
| Tcf7l2 |
A |
T |
19: 55,886,989 (GRCm39) |
M1L |
probably benign |
Het |
| Tpx2 |
C |
T |
2: 152,735,514 (GRCm39) |
A714V |
probably damaging |
Het |
| Trgc4 |
T |
A |
13: 19,533,740 (GRCm39) |
S121R |
|
Het |
| Trmt1 |
G |
A |
8: 85,415,969 (GRCm39) |
R9H |
possibly damaging |
Het |
| Unc13a |
A |
T |
8: 72,111,131 (GRCm39) |
V360E |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,722,589 (GRCm39) |
I10N |
probably damaging |
Het |
| Xkr4 |
A |
G |
1: 3,740,842 (GRCm39) |
S244P |
possibly damaging |
Het |
| Zkscan14 |
G |
T |
5: 145,132,708 (GRCm39) |
H274Q |
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 |
|
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 |
|
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'- ATGCCTGTCTTCCCTGAGAC -3'
(R):5'- AACGTCAATGGGTTGTGGTCC -3'
Sequencing Primer
(F):5'- TGAGACCTCATATTCCACCAGAAGAG -3'
(R):5'- TGACTCGTGGAAAGTAGATAACG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation