Incidental Mutation 'RF023:Sec31b'
| ID |
604020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
RF023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44524226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 138
(A138D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063632]
[ENSMUST00000111985]
|
| AlphaFold |
Q3TZ89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063632
AA Change: A138D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: A138D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
96% (24/25) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,818 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAAACAGAAAGGAAAAGGTGGCCAG |
AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,841 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG |
TGGCTGTGGCTGTGG |
1: 82,891,117 (GRCm39) |
|
probably benign |
Het |
| Amot |
GCAACAGCAAC |
GC |
X: 144,233,999 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,256,407 (GRCm39) |
S1172T |
probably damaging |
Het |
| Bltp1 |
T |
TTATTATTATTATTAG |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,245,191 (GRCm39) |
V300I |
probably benign |
Het |
| Calhm1 |
GTGGC |
GTGGCTGTGGCTTTGGC |
19: 47,129,712 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,301 (GRCm39) |
T516A |
probably damaging |
Het |
| Ccdc170 |
CCA |
CCAACA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
| Cdhr3 |
G |
T |
12: 33,110,348 (GRCm39) |
S312Y |
probably damaging |
Het |
| Cdk1 |
C |
T |
10: 69,176,328 (GRCm39) |
G260S |
possibly damaging |
Het |
| Cdsn |
AG |
AGACAGGAAGTAGTAGCTCTCAG |
17: 35,865,876 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,803,620 (GRCm39) |
V88E |
probably benign |
Het |
| Cfap46 |
TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC |
TCTTCTCCTTCTCCTTCTCC |
7: 139,218,834 (GRCm39) |
|
|
Het |
| Dnah11 |
T |
A |
12: 117,918,585 (GRCm39) |
R3449W |
probably damaging |
Het |
| Dnmt1 |
AGTTCCTACCTCGTT |
AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT |
9: 20,821,427 (GRCm39) |
|
probably null |
Het |
| E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CCGCCG |
CCGCCGGCGCCG |
4: 141,602,073 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
CTT |
CTTT |
2: 25,290,907 (GRCm39) |
|
probably null |
Het |
| Ephx2 |
A |
G |
14: 66,322,378 (GRCm39) |
|
probably null |
Het |
| Exd2 |
GCAGCAGCCGCAGCCACAGC |
GCAGC |
12: 80,522,689 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTC |
GCTCCGTCTC |
X: 71,313,660 (GRCm39) |
|
probably benign |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Herc1 |
G |
C |
9: 66,365,616 (GRCm39) |
G324R |
|
Het |
| Hsdl2 |
CAGCCACAGCTGCAG |
CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG |
4: 59,610,644 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GCTTGAAG |
GCTTGAAGCGGGCCTTGAAG |
3: 37,179,969 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAG |
CAGCCCTAG |
1: 83,019,867 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
ACAGC |
ACAGCCACGGCCACCGCAGC |
1: 83,020,007 (GRCm39) |
|
probably benign |
Het |
| Krtap4-9 |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
11: 99,676,217 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCTGCC |
TGCTGCCCCCGCCGCTGCC |
3: 92,925,587 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TGGTGGTG |
T |
14: 75,185,006 (GRCm39) |
|
probably null |
Het |
| Mgam |
C |
T |
6: 40,657,642 (GRCm39) |
T999I |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,057 (GRCm39) |
E740G |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,525,779 (GRCm39) |
|
probably null |
Het |
| Phactr2 |
T |
A |
10: 13,121,178 (GRCm39) |
Q503H |
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,046,802 (GRCm39) |
Y241C |
probably damaging |
Het |
| Rad51ap2 |
T |
G |
12: 11,508,076 (GRCm39) |
V666G |
possibly damaging |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
CTCTCTCTCT |
CTCTCTCTCTCTCTCTCTGTCTCTCTCT |
10: 84,694,349 (GRCm39) |
|
probably benign |
Het |
| Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,413,723 (GRCm39) |
S240T |
probably damaging |
Het |
| Rtbdn |
GCAGCG |
GCAGCGTCAGCG |
8: 85,682,795 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,205,482 (GRCm39) |
W3495R |
probably damaging |
Het |
| Tgoln1 |
CC |
CCCGTGGGCTTGCCAGAATTACCTTC |
6: 72,593,063 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,313,728 (GRCm39) |
H48R |
probably benign |
Het |
| Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGATGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
T |
TGCTGCTGCTGCTGCC |
15: 72,673,180 (GRCm39) |
|
probably benign |
Het |
| Vsig2 |
T |
A |
9: 37,450,559 (GRCm39) |
|
probably null |
Het |
| Wnk2 |
T |
C |
13: 49,300,255 (GRCm39) |
T152A |
probably benign |
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 |
|
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 |
|
Z1177:Sec31b
|
UTSW |
19 |
44,505,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGCCCTCCAGTGGTAAAGC -3'
(R):5'- CTGTGCCTCTGAACTGTAATGG -3'
Sequencing Primer
(F):5'- CTCCAGTGGTAAAGCTGGAAATCTC -3'
(R):5'- TGCCTCTGAACTGTAATGGGAGAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation