Incidental Mutation 'IGL01585:Scfd1'
ID |
93328 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Scfd1
|
Ensembl Gene |
ENSMUSG00000020952 |
Gene Name |
Sec1 family domain containing 1 |
Synonyms |
RA410, STXBP1L2, 3110021P21Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
IGL01585
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
51424296-51496887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51462336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 397
(D397G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021335]
[ENSMUST00000219434]
|
AlphaFold |
Q8BRF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021335
AA Change: D397G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021335 Gene: ENSMUSG00000020952 AA Change: D397G
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
41 |
632 |
1.6e-109 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219434
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,359,045 (GRCm39) |
D587G |
probably benign |
Het |
Adcy1 |
T |
A |
11: 7,117,143 (GRCm39) |
N1003K |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,473,462 (GRCm39) |
D847G |
probably benign |
Het |
Atp5f1a |
T |
C |
18: 77,868,758 (GRCm39) |
V417A |
possibly damaging |
Het |
Avp |
A |
C |
2: 130,422,629 (GRCm39) |
S159A |
probably benign |
Het |
Brca2 |
C |
A |
5: 150,462,981 (GRCm39) |
A915D |
possibly damaging |
Het |
Cdc42bpg |
G |
A |
19: 6,370,462 (GRCm39) |
R1185H |
possibly damaging |
Het |
Cdcp3 |
T |
G |
7: 130,846,487 (GRCm39) |
V637G |
probably damaging |
Het |
Clrn2 |
A |
G |
5: 45,617,500 (GRCm39) |
I124V |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,595,289 (GRCm39) |
K469* |
probably null |
Het |
Cxcl1 |
T |
A |
5: 91,039,583 (GRCm39) |
N70K |
probably damaging |
Het |
Dbf4 |
A |
G |
5: 8,458,492 (GRCm39) |
|
probably null |
Het |
Fbn1 |
A |
T |
2: 125,202,030 (GRCm39) |
V1281E |
probably damaging |
Het |
Fgfr3 |
A |
T |
5: 33,891,305 (GRCm39) |
Q523L |
probably damaging |
Het |
Golga5 |
A |
G |
12: 102,445,954 (GRCm39) |
K403R |
probably benign |
Het |
Gpr22 |
A |
G |
12: 31,759,336 (GRCm39) |
I262T |
probably benign |
Het |
Gstm3 |
G |
T |
3: 107,873,474 (GRCm39) |
Q166K |
probably benign |
Het |
Ilf2 |
T |
A |
3: 90,391,849 (GRCm39) |
N183K |
probably damaging |
Het |
Ip6k2 |
T |
A |
9: 108,673,512 (GRCm39) |
L40Q |
probably damaging |
Het |
Itga8 |
A |
T |
2: 12,165,123 (GRCm39) |
|
probably benign |
Het |
Lbr |
T |
A |
1: 181,653,208 (GRCm39) |
R70* |
probably null |
Het |
Lilra6 |
T |
C |
7: 3,917,498 (GRCm39) |
T166A |
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,467,846 (GRCm39) |
K1063E |
probably damaging |
Het |
Msi1 |
T |
C |
5: 115,568,949 (GRCm39) |
|
probably null |
Het |
Pam |
A |
G |
1: 97,792,197 (GRCm39) |
V408A |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,306,538 (GRCm39) |
|
probably null |
Het |
Ppp1r36 |
A |
T |
12: 76,485,891 (GRCm39) |
|
probably null |
Het |
Prrt4 |
A |
G |
6: 29,177,689 (GRCm39) |
S27P |
probably benign |
Het |
Psmg1 |
G |
A |
16: 95,789,221 (GRCm39) |
T112I |
possibly damaging |
Het |
Rfx7 |
T |
G |
9: 72,524,343 (GRCm39) |
I511S |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,031,198 (GRCm39) |
T481M |
probably damaging |
Het |
Sel1l3 |
A |
G |
5: 53,311,578 (GRCm39) |
Y636H |
probably damaging |
Het |
Sgms1 |
T |
G |
19: 32,120,245 (GRCm39) |
R220S |
probably damaging |
Het |
Slc37a3 |
A |
T |
6: 39,314,196 (GRCm39) |
I472N |
probably damaging |
Het |
Syne2 |
A |
G |
12: 75,995,834 (GRCm39) |
|
probably null |
Het |
Tert |
T |
C |
13: 73,782,463 (GRCm39) |
V579A |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,162,924 (GRCm39) |
H1002L |
probably damaging |
Het |
|
Other mutations in Scfd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Scfd1
|
APN |
12 |
51,474,652 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00640:Scfd1
|
APN |
12 |
51,436,098 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01481:Scfd1
|
APN |
12 |
51,430,903 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01862:Scfd1
|
APN |
12 |
51,492,494 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02000:Scfd1
|
APN |
12 |
51,460,900 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02226:Scfd1
|
APN |
12 |
51,436,164 (GRCm39) |
splice site |
probably benign |
|
IGL02327:Scfd1
|
APN |
12 |
51,436,100 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02503:Scfd1
|
APN |
12 |
51,469,704 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02585:Scfd1
|
APN |
12 |
51,433,890 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02732:Scfd1
|
APN |
12 |
51,469,756 (GRCm39) |
missense |
probably benign |
0.01 |
R0671:Scfd1
|
UTSW |
12 |
51,459,411 (GRCm39) |
missense |
probably benign |
0.01 |
R0707:Scfd1
|
UTSW |
12 |
51,459,360 (GRCm39) |
missense |
probably damaging |
0.98 |
R1467:Scfd1
|
UTSW |
12 |
51,478,281 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1467:Scfd1
|
UTSW |
12 |
51,478,281 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1962:Scfd1
|
UTSW |
12 |
51,469,769 (GRCm39) |
missense |
probably benign |
0.00 |
R2173:Scfd1
|
UTSW |
12 |
51,433,862 (GRCm39) |
missense |
probably benign |
0.22 |
R2249:Scfd1
|
UTSW |
12 |
51,462,299 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3872:Scfd1
|
UTSW |
12 |
51,438,979 (GRCm39) |
missense |
probably damaging |
0.98 |
R4080:Scfd1
|
UTSW |
12 |
51,478,302 (GRCm39) |
missense |
probably benign |
|
R4356:Scfd1
|
UTSW |
12 |
51,486,068 (GRCm39) |
missense |
probably benign |
0.00 |
R4841:Scfd1
|
UTSW |
12 |
51,436,109 (GRCm39) |
missense |
probably damaging |
0.96 |
R4842:Scfd1
|
UTSW |
12 |
51,436,109 (GRCm39) |
missense |
probably damaging |
0.96 |
R4909:Scfd1
|
UTSW |
12 |
51,437,195 (GRCm39) |
missense |
probably benign |
0.00 |
R5004:Scfd1
|
UTSW |
12 |
51,491,777 (GRCm39) |
missense |
probably benign |
0.03 |
R5275:Scfd1
|
UTSW |
12 |
51,462,372 (GRCm39) |
missense |
probably benign |
0.19 |
R5494:Scfd1
|
UTSW |
12 |
51,443,522 (GRCm39) |
splice site |
probably null |
|
R5779:Scfd1
|
UTSW |
12 |
51,478,312 (GRCm39) |
missense |
probably benign |
|
R6000:Scfd1
|
UTSW |
12 |
51,492,457 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6017:Scfd1
|
UTSW |
12 |
51,492,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R6522:Scfd1
|
UTSW |
12 |
51,478,324 (GRCm39) |
missense |
probably benign |
0.04 |
R6954:Scfd1
|
UTSW |
12 |
51,474,729 (GRCm39) |
critical splice donor site |
probably null |
|
R7748:Scfd1
|
UTSW |
12 |
51,436,140 (GRCm39) |
missense |
probably benign |
0.21 |
R7993:Scfd1
|
UTSW |
12 |
51,492,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R8122:Scfd1
|
UTSW |
12 |
51,480,052 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8353:Scfd1
|
UTSW |
12 |
51,459,374 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8453:Scfd1
|
UTSW |
12 |
51,459,374 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8890:Scfd1
|
UTSW |
12 |
51,474,678 (GRCm39) |
missense |
probably benign |
|
R9284:Scfd1
|
UTSW |
12 |
51,439,024 (GRCm39) |
missense |
probably benign |
0.00 |
R9294:Scfd1
|
UTSW |
12 |
51,440,649 (GRCm39) |
missense |
possibly damaging |
0.76 |
RF007:Scfd1
|
UTSW |
12 |
51,469,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-12-09 |