Incidental Mutation 'R8057:Sec31b'
| ID |
619495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| MMRRC Submission |
067494-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R8057 (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 44507804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 747
(P747T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063632]
[ENSMUST00000111985]
|
| AlphaFold |
Q3TZ89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063632
AA Change: P904T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: P904T
| 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 damaging
Transcript: ENSMUST00000111985
AA Change: P747T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: P747T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (81/81) |
| 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 |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,826 (GRCm39) |
L32P |
probably damaging |
Het |
| 4930563M21Rik |
T |
C |
9: 55,916,564 (GRCm39) |
T38A |
unknown |
Het |
| Abcb6 |
T |
C |
1: 75,151,002 (GRCm39) |
N563D |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,317,850 (GRCm39) |
F140S |
probably damaging |
Het |
| Arhgap27 |
T |
A |
11: 103,229,519 (GRCm39) |
R296S |
probably damaging |
Het |
| Atxn7l1 |
A |
C |
12: 33,376,001 (GRCm39) |
K98N |
probably damaging |
Het |
| Bex6 |
G |
T |
16: 32,005,224 (GRCm39) |
D11Y |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,228,489 (GRCm39) |
D781G |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,092,936 (GRCm39) |
D800G |
probably benign |
Het |
| Carmil2 |
G |
A |
8: 106,419,008 (GRCm39) |
V716I |
probably benign |
Het |
| Cdk5 |
C |
A |
5: 24,625,782 (GRCm39) |
D144Y |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,880,925 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,450,829 (GRCm39) |
L651Q |
probably damaging |
Het |
| Cimap1d |
T |
A |
10: 79,475,835 (GRCm39) |
H243L |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,368,233 (GRCm39) |
Q261* |
probably null |
Het |
| Cntnap2 |
T |
A |
6: 46,324,079 (GRCm39) |
F576Y |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,925,263 (GRCm39) |
G815D |
unknown |
Het |
| Col4a4 |
T |
A |
1: 82,501,591 (GRCm39) |
R387S |
unknown |
Het |
| Cse1l |
T |
A |
2: 166,781,845 (GRCm39) |
V663D |
probably damaging |
Het |
| Csf2rb2 |
G |
T |
15: 78,169,206 (GRCm39) |
Q650K |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,847,497 (GRCm39) |
D696G |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,728,112 (GRCm39) |
C2937S |
possibly damaging |
Het |
| Epha10 |
A |
T |
4: 124,796,476 (GRCm39) |
Q395L |
|
Het |
| Fam167a |
T |
A |
14: 63,689,769 (GRCm39) |
V22E |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gabra4 |
A |
G |
5: 71,781,295 (GRCm39) |
I372T |
probably benign |
Het |
| Gpt |
A |
G |
15: 76,580,972 (GRCm39) |
|
probably benign |
Het |
| H2-K2 |
C |
T |
17: 34,215,833 (GRCm39) |
G336D |
possibly damaging |
Het |
| Hapstr1 |
C |
T |
16: 8,648,232 (GRCm39) |
|
probably benign |
Het |
| Hoxd8 |
T |
C |
2: 74,535,070 (GRCm39) |
|
probably null |
Het |
| Ilrun |
C |
T |
17: 27,986,863 (GRCm39) |
A288T |
unknown |
Het |
| Kdm5d |
T |
G |
Y: 927,355 (GRCm39) |
D658E |
possibly damaging |
Het |
| Krt25 |
G |
A |
11: 99,208,169 (GRCm39) |
T353M |
probably benign |
Het |
| Lonp2 |
T |
C |
8: 87,440,717 (GRCm39) |
L778P |
probably damaging |
Het |
| Lrrc66 |
G |
A |
5: 73,764,875 (GRCm39) |
Q723* |
probably null |
Het |
| Mak |
T |
A |
13: 41,202,813 (GRCm39) |
I212F |
probably damaging |
Het |
| Mastl |
T |
A |
2: 23,023,566 (GRCm39) |
R386W |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,195,673 (GRCm39) |
I697T |
possibly damaging |
Het |
| Nek5 |
G |
A |
8: 22,578,922 (GRCm39) |
T415I |
probably benign |
Het |
| Neu3 |
T |
A |
7: 99,463,435 (GRCm39) |
N96I |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,290,107 (GRCm39) |
V153A |
possibly damaging |
Het |
| Or10a3 |
A |
T |
7: 108,480,571 (GRCm39) |
F81I |
probably damaging |
Het |
| Or5b102 |
G |
A |
19: 13,040,638 (GRCm39) |
|
probably benign |
Het |
| Or8b4 |
A |
G |
9: 37,830,460 (GRCm39) |
D169G |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,644,476 (GRCm39) |
T1257A |
probably benign |
Het |
| Pcdh10 |
G |
A |
3: 45,333,694 (GRCm39) |
V3M |
probably benign |
Het |
| Pitpnm1 |
G |
A |
19: 4,162,145 (GRCm39) |
R1017Q |
probably null |
Het |
| Plcb3 |
A |
C |
19: 6,932,463 (GRCm39) |
H1065Q |
probably benign |
Het |
| Plcb3 |
A |
T |
19: 6,936,267 (GRCm39) |
M752K |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,557 (GRCm39) |
E1449G |
probably benign |
Het |
| Plekha4 |
T |
A |
7: 45,198,695 (GRCm39) |
C573S |
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,575,638 (GRCm39) |
I304V |
possibly damaging |
Het |
| Pnp2 |
G |
A |
14: 51,201,838 (GRCm39) |
V275I |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,908,644 (GRCm39) |
A490T |
possibly damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,883,354 (GRCm39) |
F56S |
probably damaging |
Het |
| Ptk2 |
GA |
G |
15: 73,170,048 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
C |
A |
1: 6,315,443 (GRCm39) |
R473S |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,976,946 (GRCm39) |
V65A |
probably damaging |
Het |
| Rpl27rt |
T |
C |
18: 34,870,582 (GRCm39) |
F39L |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,055 (GRCm39) |
|
probably null |
Het |
| Samd5 |
C |
T |
10: 9,550,641 (GRCm39) |
V23M |
probably damaging |
Het |
| Scn9a |
T |
G |
2: 66,345,774 (GRCm39) |
R1117S |
probably benign |
Het |
| Scrn1 |
T |
A |
6: 54,497,758 (GRCm39) |
I278L |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,269 (GRCm39) |
V823E |
probably damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,400,619 (GRCm39) |
N201S |
probably damaging |
Het |
| Slc30a3 |
C |
A |
5: 31,247,395 (GRCm39) |
|
probably benign |
Het |
| Snx31 |
C |
A |
15: 36,523,606 (GRCm39) |
V359F |
probably damaging |
Het |
| Sstr2 |
A |
G |
11: 113,515,099 (GRCm39) |
E6G |
probably benign |
Het |
| Stc2 |
C |
A |
11: 31,317,806 (GRCm39) |
E72* |
probably null |
Het |
| Tead1 |
C |
T |
7: 112,358,721 (GRCm39) |
P11L |
probably benign |
Het |
| Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,118,972 (GRCm39) |
K301* |
probably null |
Het |
| Tns3 |
G |
C |
11: 8,442,773 (GRCm39) |
A530G |
probably benign |
Het |
| Trat1 |
T |
C |
16: 48,562,600 (GRCm39) |
D70G |
probably damaging |
Het |
| Trex1 |
T |
A |
9: 108,887,397 (GRCm39) |
E198V |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,570,072 (GRCm39) |
R26940S |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,867,835 (GRCm39) |
K34R |
possibly damaging |
Het |
| Vps13d |
A |
C |
4: 144,701,753 (GRCm39) |
M4376R |
|
Het |
| Zfp157 |
C |
A |
5: 138,454,336 (GRCm39) |
T178K |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,710,692 (GRCm39) |
V805D |
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 |
|
|
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 |
|
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'- GGCCTTAGTTCACTGGCTTG -3'
(R):5'- TCCTTTCCAAATGAAGGCTGG -3'
Sequencing Primer
(F):5'- CCTTAGTTCACTGGCTTGAGGAAC -3'
(R):5'- CTTTCCAAATGAAGGCTGGTGATAAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation