Incidental Mutation 'IGL02728:Sec31b'
| ID |
305343 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.113)
|
| Stock # |
IGL02728
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44511554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 616
(V616F)
|
| 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: V773F
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: V773F
| 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: V616F
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: V616F
| 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 |
|
| Validation Efficiency |
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
G |
T |
9: 90,073,880 (GRCm39) |
|
probably benign |
Het |
| Als2 |
A |
G |
1: 59,235,506 (GRCm39) |
V726A |
probably benign |
Het |
| Apba1 |
G |
A |
19: 23,922,269 (GRCm39) |
G779E |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,818,528 (GRCm39) |
V2167E |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,983,846 (GRCm39) |
K566E |
probably damaging |
Het |
| Btd |
T |
C |
14: 31,389,319 (GRCm39) |
F347L |
probably benign |
Het |
| Btg2 |
T |
C |
1: 134,006,643 (GRCm39) |
|
probably benign |
Het |
| Cblb |
T |
A |
16: 52,003,672 (GRCm39) |
S717T |
probably benign |
Het |
| Cep250 |
T |
A |
2: 155,825,198 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,828,968 (GRCm39) |
N312S |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,530,107 (GRCm39) |
T1490S |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,813,172 (GRCm39) |
C2906S |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,049,779 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
T |
A |
9: 56,793,765 (GRCm39) |
V500E |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,126,739 (GRCm39) |
D469V |
probably damaging |
Het |
| Dhh |
A |
T |
15: 98,792,192 (GRCm39) |
|
probably null |
Het |
| Dhrs3 |
A |
G |
4: 144,646,642 (GRCm39) |
R231G |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,356,495 (GRCm39) |
S122P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,005,955 (GRCm39) |
I2275V |
probably benign |
Het |
| Dock8 |
A |
C |
19: 25,109,584 (GRCm39) |
N922T |
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,774,945 (GRCm39) |
L154P |
probably damaging |
Het |
| Eif4ebp1 |
C |
A |
8: 27,763,510 (GRCm39) |
P101Q |
possibly damaging |
Het |
| Eif4g1 |
T |
G |
16: 20,505,502 (GRCm39) |
|
probably benign |
Het |
| Emb |
A |
G |
13: 117,369,301 (GRCm39) |
M50V |
probably benign |
Het |
| Eml4 |
T |
C |
17: 83,780,568 (GRCm39) |
|
probably null |
Het |
| Fkbp10 |
G |
T |
11: 100,306,803 (GRCm39) |
R65L |
probably damaging |
Het |
| Gm5878 |
T |
C |
6: 85,095,574 (GRCm39) |
N83S |
probably benign |
Het |
| Gm8165 |
C |
T |
14: 43,913,694 (GRCm39) |
A57T |
unknown |
Het |
| Gpr179 |
A |
G |
11: 97,228,726 (GRCm39) |
V1143A |
probably damaging |
Het |
| Hat1 |
T |
C |
2: 71,251,604 (GRCm39) |
Y218H |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,026,689 (GRCm39) |
N885I |
probably benign |
Het |
| Ift70a1 |
T |
A |
2: 75,811,193 (GRCm39) |
M297L |
probably benign |
Het |
| Inha |
T |
C |
1: 75,486,091 (GRCm39) |
S129P |
probably damaging |
Het |
| Ints9 |
T |
C |
14: 65,230,457 (GRCm39) |
I128T |
probably damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,149 (GRCm39) |
|
probably null |
Het |
| Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,691,410 (GRCm39) |
N3356D |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,994,038 (GRCm39) |
D1008G |
possibly damaging |
Het |
| Med4 |
T |
A |
14: 73,755,415 (GRCm39) |
L241Q |
possibly damaging |
Het |
| Mtch1 |
A |
G |
17: 29,557,716 (GRCm39) |
V254A |
possibly damaging |
Het |
| Napg |
C |
T |
18: 63,127,375 (GRCm39) |
|
probably benign |
Het |
| Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
| Or5k1 |
C |
T |
16: 58,617,843 (GRCm39) |
R122H |
probably benign |
Het |
| Or7g33 |
A |
G |
9: 19,449,142 (GRCm39) |
F28S |
possibly damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,222 (GRCm39) |
S271P |
probably damaging |
Het |
| Or9r3 |
T |
A |
10: 129,948,487 (GRCm39) |
R57S |
probably damaging |
Het |
| Pias1 |
T |
A |
9: 62,830,926 (GRCm39) |
S161C |
probably damaging |
Het |
| Pias1 |
G |
T |
9: 62,830,927 (GRCm39) |
N160K |
possibly damaging |
Het |
| Pigp |
G |
A |
16: 94,168,466 (GRCm39) |
P37S |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,020,065 (GRCm39) |
V1070E |
probably benign |
Het |
| Pramel51 |
G |
T |
12: 88,142,792 (GRCm39) |
H275Q |
probably benign |
Het |
| Prepl |
T |
C |
17: 85,378,010 (GRCm39) |
T457A |
probably damaging |
Het |
| Psg23 |
G |
A |
7: 18,340,853 (GRCm39) |
A467V |
probably benign |
Het |
| Rad54l |
T |
C |
4: 115,980,146 (GRCm39) |
R13G |
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,108,336 (GRCm39) |
D248G |
probably damaging |
Het |
| Rspo1 |
A |
G |
4: 124,898,955 (GRCm39) |
N92S |
probably damaging |
Het |
| Scube1 |
G |
A |
15: 83,543,217 (GRCm39) |
|
probably benign |
Het |
| Sema3a |
T |
C |
5: 13,615,881 (GRCm39) |
V435A |
probably damaging |
Het |
| Slc7a10 |
T |
A |
7: 34,897,123 (GRCm39) |
I208N |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,692,420 (GRCm39) |
M2151K |
possibly damaging |
Het |
| Tacc1 |
T |
C |
8: 25,665,235 (GRCm39) |
D50G |
probably damaging |
Het |
| Tas2r121 |
G |
T |
6: 132,677,480 (GRCm39) |
T164N |
probably damaging |
Het |
| Tatdn2 |
T |
C |
6: 113,681,676 (GRCm39) |
W570R |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,323,628 (GRCm39) |
F600I |
probably damaging |
Het |
| Trim36 |
T |
A |
18: 46,305,669 (GRCm39) |
H426L |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,787,016 (GRCm39) |
N531Y |
possibly damaging |
Het |
| Ttc39a |
T |
C |
4: 109,299,920 (GRCm39) |
C470R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,615,283 (GRCm39) |
E8485K |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,196,122 (GRCm39) |
I1253F |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,088,688 (GRCm39) |
H1724L |
possibly damaging |
Het |
| Vmn1r40 |
T |
A |
6: 89,691,998 (GRCm39) |
C89S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation