Incidental Mutation 'BB015:Sec13'
| ID |
642851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec13
|
| Ensembl Gene |
ENSMUSG00000030298 |
| Gene Name |
SEC13 homolog, nuclear pore and COPII coat complex component |
| Synonyms |
1110003H02Rik, Sec13l1, Sec13r |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
BB015
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113705013-113717642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113706601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 271
(S271P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032440]
|
| AlphaFold |
Q9D1M0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032440
AA Change: S271P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032440
Gene: ENSMUSG00000030298
AA Change: S271P
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
41 |
7.39e-3 |
SMART |
|
WD40
|
46 |
87 |
5.55e-7 |
SMART |
|
WD40
|
92 |
133 |
8.75e-5 |
SMART |
|
WD40
|
139 |
195 |
2.67e-1 |
SMART |
|
WD40
|
201 |
244 |
6.73e-6 |
SMART |
|
WD40
|
254 |
290 |
9.75e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.9571 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
A |
15: 74,410,170 (GRCm39) |
W270R |
probably damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| App |
A |
T |
16: 84,775,134 (GRCm39) |
V501D |
probably benign |
Het |
| Cnot6l |
A |
G |
5: 96,278,927 (GRCm39) |
V97A |
possibly damaging |
Het |
| Cntrob |
A |
G |
11: 69,191,121 (GRCm39) |
L831P |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,639,620 (GRCm39) |
S53P |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,321,661 (GRCm39) |
D3833G |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,838,302 (GRCm39) |
L1081P |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,889,335 (GRCm39) |
N185D |
|
Het |
| Dsn1 |
T |
C |
2: 156,847,932 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,359 (GRCm39) |
T1444A |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,094,459 (GRCm39) |
L1130P |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,898 (GRCm39) |
D1118G |
unknown |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gm11596 |
A |
G |
11: 99,683,622 (GRCm39) |
V166A |
unknown |
Het |
| Gm2696 |
A |
T |
10: 77,650,723 (GRCm39) |
T70S |
unknown |
Het |
| Gm5773 |
A |
G |
3: 93,680,997 (GRCm39) |
E223G |
probably damaging |
Het |
| Madd |
T |
A |
2: 91,007,233 (GRCm39) |
D293V |
probably damaging |
Het |
| Odam |
A |
G |
5: 88,035,269 (GRCm39) |
T78A |
possibly damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,390,397 (GRCm39) |
I17F |
probably damaging |
Het |
| Rassf3 |
A |
G |
10: 121,252,984 (GRCm39) |
|
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,159,898 (GRCm39) |
Y826C |
possibly damaging |
Het |
| Rnf13 |
C |
A |
3: 57,671,729 (GRCm39) |
Q14K |
probably benign |
Het |
| Sema6c |
T |
C |
3: 95,079,620 (GRCm39) |
L638P |
probably damaging |
Het |
| Sgsh |
T |
G |
11: 119,238,561 (GRCm39) |
H301P |
probably benign |
Het |
| Shh |
T |
C |
5: 28,666,404 (GRCm39) |
M161V |
possibly damaging |
Het |
| Stil |
C |
T |
4: 114,887,198 (GRCm39) |
H764Y |
probably damaging |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,705 (GRCm39) |
T162I |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,712,722 (GRCm39) |
M214T |
probably damaging |
Het |
|
| Other mutations in Sec13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02044:Sec13
|
APN |
6 |
113,713,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB005:Sec13
|
UTSW |
6 |
113,706,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0470:Sec13
|
UTSW |
6 |
113,717,593 (GRCm39) |
unclassified |
probably benign |
|
|
R0507:Sec13
|
UTSW |
6 |
113,712,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1269:Sec13
|
UTSW |
6 |
113,714,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4120:Sec13
|
UTSW |
6 |
113,711,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Sec13
|
UTSW |
6 |
113,706,652 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4938:Sec13
|
UTSW |
6 |
113,712,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Sec13
|
UTSW |
6 |
113,707,837 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6065:Sec13
|
UTSW |
6 |
113,707,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6302:Sec13
|
UTSW |
6 |
113,712,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Sec13
|
UTSW |
6 |
113,712,097 (GRCm39) |
nonsense |
probably null |
|
|
R7928:Sec13
|
UTSW |
6 |
113,706,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8034:Sec13
|
UTSW |
6 |
113,712,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTATGCAAGTCCTGTTGTG -3'
(R):5'- AGCAGGACATTGGAACAGACTC -3'
Sequencing Primer
(F):5'- TGTGTGTCAGCCCTCAAGAG -3'
(R):5'- GGACATTGGAACAGACTCTTTAGTG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation