Incidental Mutation 'R1398:Sec31b'
| ID |
160278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| MMRRC Submission |
039460-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R1398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44512104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 597
(I597F)
|
| 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: I754F
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: I754F
| 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: I597F
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: I597F
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
96% (75/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,547,511 (GRCm39) |
K288E |
probably damaging |
Het |
| Aldh3a2 |
T |
C |
11: 61,147,562 (GRCm39) |
|
probably null |
Het |
| Anks1b |
A |
G |
10: 89,885,891 (GRCm39) |
T196A |
probably damaging |
Het |
| Anks6 |
T |
A |
4: 47,044,926 (GRCm39) |
T327S |
possibly damaging |
Het |
| Bdh2 |
T |
C |
3: 135,001,057 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
A |
17: 34,949,693 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,562,764 (GRCm39) |
V847I |
possibly damaging |
Het |
| Cadps |
G |
T |
14: 12,449,822 (GRCm38) |
T1129K |
probably damaging |
Het |
| Cdc45 |
A |
G |
16: 18,600,721 (GRCm39) |
|
probably benign |
Het |
| Cep63 |
A |
T |
9: 102,480,285 (GRCm39) |
|
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,126,825 (GRCm39) |
|
probably null |
Het |
| Cnot11 |
A |
G |
1: 39,584,261 (GRCm39) |
R478G |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,627,069 (GRCm39) |
S254P |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,020,841 (GRCm39) |
K87* |
probably null |
Het |
| Dpy19l2 |
T |
A |
9: 24,492,559 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,221,393 (GRCm39) |
I694N |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,958,081 (GRCm39) |
I168K |
probably benign |
Het |
| Eif4e |
A |
T |
3: 138,252,136 (GRCm39) |
N25Y |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,430,297 (GRCm39) |
Y69C |
probably damaging |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Fgfrl1 |
T |
A |
5: 108,854,147 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
T |
A |
19: 57,361,358 (GRCm39) |
|
probably benign |
Het |
| Gm3159 |
T |
A |
14: 4,398,586 (GRCm38) |
Y92* |
probably null |
Het |
| Gm4922 |
T |
A |
10: 18,659,496 (GRCm39) |
S409C |
possibly damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,691,244 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
A |
G |
5: 88,813,706 (GRCm39) |
Y231H |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,014,395 (GRCm39) |
H614L |
possibly damaging |
Het |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
| Isg20l2 |
C |
A |
3: 87,846,061 (GRCm39) |
L325I |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,033,190 (GRCm39) |
Y879H |
probably damaging |
Het |
| Kcnk10 |
C |
A |
12: 98,402,485 (GRCm39) |
W318L |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,195,654 (GRCm39) |
E323G |
possibly damaging |
Het |
| Kif4 |
G |
T |
X: 99,732,703 (GRCm39) |
A492S |
probably benign |
Het |
| Krtap4-1 |
T |
C |
11: 99,518,558 (GRCm39) |
T151A |
unknown |
Het |
| Ldlr |
A |
T |
9: 21,650,838 (GRCm39) |
Q449L |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,649,216 (GRCm39) |
D872E |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,322 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
C |
T |
10: 125,838,957 (GRCm39) |
P488L |
probably benign |
Het |
| Lrrc4b |
A |
C |
7: 44,111,876 (GRCm39) |
I583L |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,915,121 (GRCm39) |
S3272P |
possibly damaging |
Het |
| Marchf2 |
T |
C |
17: 33,915,096 (GRCm39) |
H166R |
probably damaging |
Het |
| Mtbp |
C |
A |
15: 55,440,933 (GRCm39) |
Y373* |
probably null |
Het |
| Myh2 |
C |
T |
11: 67,076,113 (GRCm39) |
H767Y |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,428,889 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,179,658 (GRCm39) |
N1282Y |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,269,119 (GRCm39) |
Y428H |
possibly damaging |
Het |
| Nrros |
A |
T |
16: 31,961,962 (GRCm39) |
I649N |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,924,691 (GRCm39) |
|
probably benign |
Het |
| Or5p70 |
T |
A |
7: 107,994,708 (GRCm39) |
V127E |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,246,435 (GRCm39) |
V368E |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,882,857 (GRCm39) |
S1674T |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,850,307 (GRCm39) |
V31A |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,697,579 (GRCm39) |
V692E |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,372 (GRCm39) |
|
probably null |
Het |
| Rps6kc1 |
T |
C |
1: 190,532,212 (GRCm39) |
I597V |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,977,658 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
G |
2: 66,314,930 (GRCm39) |
M1587T |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,636,268 (GRCm39) |
N650S |
unknown |
Het |
| Slc22a28 |
G |
T |
19: 8,107,566 (GRCm39) |
S167* |
probably null |
Het |
| Slfn1 |
T |
A |
11: 83,011,968 (GRCm39) |
M28K |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,321,880 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,786,857 (GRCm39) |
H282R |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,724,422 (GRCm39) |
Q253K |
possibly damaging |
Het |
| Syngr3 |
C |
A |
17: 24,905,414 (GRCm39) |
V161L |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,283,425 (GRCm39) |
S397F |
probably damaging |
Het |
| Uso1 |
C |
T |
5: 92,329,327 (GRCm39) |
A405V |
probably benign |
Het |
| Uvrag |
G |
T |
7: 98,715,027 (GRCm39) |
Y190* |
probably null |
Het |
| Vps13d |
A |
T |
4: 144,826,553 (GRCm39) |
L1726Q |
probably null |
Het |
| Vwf |
A |
T |
6: 125,580,420 (GRCm39) |
Q556L |
probably benign |
Het |
| Wdr70 |
T |
A |
15: 8,065,325 (GRCm39) |
M246L |
probably benign |
Het |
| Yipf3 |
T |
C |
17: 46,562,372 (GRCm39) |
F285S |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,476,621 (GRCm39) |
G579R |
probably damaging |
Het |
| Zdhhc18 |
G |
C |
4: 133,354,608 (GRCm39) |
F125L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCTGGAAAGCCTTCCTTCAC -3'
(R):5'- TGGATGCAGTCCATTGGTCCCAAC -3'
Sequencing Primer
(F):5'- gccttccttcacatcccc -3'
(R):5'- GGTCCCAACCTTAATAGCTTAAGGAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation