Incidental Mutation 'R5779:Scfd1'
ID |
446890 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scfd1
|
Ensembl Gene |
ENSMUSG00000020952 |
Gene Name |
Sec1 family domain containing 1 |
Synonyms |
RA410, STXBP1L2, 3110021P21Rik |
MMRRC Submission |
043377-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R5779 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
51424296-51496887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51478312 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 508
(N508S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021335]
|
AlphaFold |
Q8BRF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021335
AA Change: N508S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021335 Gene: ENSMUSG00000020952 AA Change: N508S
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
41 |
632 |
1.6e-109 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218138
AA Change: N89S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219686
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
88% (52/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,075,496 (GRCm39) |
M1332V |
probably benign |
Het |
Acsbg3 |
A |
T |
17: 57,188,061 (GRCm39) |
N190Y |
probably benign |
Het |
Afg3l2 |
T |
C |
18: 67,573,513 (GRCm39) |
K132R |
probably null |
Het |
Antkmt |
A |
G |
17: 26,009,631 (GRCm39) |
V194A |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,117,418 (GRCm39) |
D886G |
probably damaging |
Het |
B3gntl1 |
G |
T |
11: 121,542,502 (GRCm39) |
|
probably null |
Het |
Cdk12 |
T |
A |
11: 98,109,900 (GRCm39) |
S640R |
probably benign |
Het |
Ceacam12 |
C |
A |
7: 17,803,079 (GRCm39) |
P162T |
probably benign |
Het |
Chrna5 |
C |
A |
9: 54,905,388 (GRCm39) |
H67N |
probably benign |
Het |
Copb1 |
T |
A |
7: 113,818,807 (GRCm39) |
D837V |
probably damaging |
Het |
Dcaf5 |
C |
T |
12: 80,385,606 (GRCm39) |
R840H |
probably benign |
Het |
Ect2l |
T |
A |
10: 18,039,186 (GRCm39) |
Q324L |
probably benign |
Het |
Eef1e1 |
T |
C |
13: 38,830,249 (GRCm39) |
N141S |
probably damaging |
Het |
Eif2ak4 |
A |
C |
2: 118,243,444 (GRCm39) |
N208T |
possibly damaging |
Het |
Ext1 |
A |
G |
15: 53,207,949 (GRCm39) |
Y271H |
probably damaging |
Het |
Fbxo5 |
G |
A |
10: 5,750,303 (GRCm39) |
R323C |
possibly damaging |
Het |
Fpr-rs3 |
C |
A |
17: 20,844,488 (GRCm39) |
A218S |
possibly damaging |
Het |
Gm20499 |
G |
A |
5: 114,955,082 (GRCm39) |
|
probably benign |
Het |
Gm57859 |
A |
G |
11: 113,578,818 (GRCm39) |
D71G |
probably benign |
Het |
Gucy1b2 |
C |
A |
14: 62,651,750 (GRCm39) |
L400F |
possibly damaging |
Het |
Hgd |
T |
A |
16: 37,413,733 (GRCm39) |
L24H |
probably benign |
Het |
Hmx3 |
C |
A |
7: 131,146,057 (GRCm39) |
S255* |
probably null |
Het |
Ifrd1 |
A |
T |
12: 40,253,369 (GRCm39) |
F448I |
probably damaging |
Het |
Igfn1 |
T |
A |
1: 135,894,578 (GRCm39) |
E1996V |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,329,104 (GRCm39) |
G173R |
probably damaging |
Het |
Kbtbd8 |
T |
C |
6: 95,095,515 (GRCm39) |
S26P |
probably benign |
Het |
Kctd17 |
A |
T |
15: 78,321,333 (GRCm39) |
|
probably benign |
Het |
Matr3 |
T |
C |
18: 35,717,575 (GRCm39) |
S258P |
possibly damaging |
Het |
Mpp4 |
G |
A |
1: 59,190,825 (GRCm39) |
A90V |
probably benign |
Het |
Mrpl20 |
G |
A |
4: 155,891,378 (GRCm39) |
R34Q |
probably damaging |
Het |
Neb |
A |
T |
2: 52,135,313 (GRCm39) |
S3266T |
probably damaging |
Het |
Nipal3 |
A |
G |
4: 135,179,650 (GRCm39) |
|
probably benign |
Het |
Npas2 |
A |
T |
1: 39,326,652 (GRCm39) |
T46S |
possibly damaging |
Het |
Nsd3 |
G |
T |
8: 26,172,685 (GRCm39) |
E815* |
probably null |
Het |
Nup98 |
C |
A |
7: 101,801,568 (GRCm39) |
V786L |
probably benign |
Het |
Or4k2 |
A |
T |
14: 50,424,203 (GRCm39) |
M157K |
possibly damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,520 (GRCm39) |
V162A |
probably benign |
Het |
Pcgf2 |
G |
A |
11: 97,581,117 (GRCm39) |
P58L |
probably damaging |
Het |
Penk |
A |
G |
4: 4,134,318 (GRCm39) |
F110L |
probably damaging |
Het |
Relch |
T |
G |
1: 105,615,072 (GRCm39) |
N246K |
probably damaging |
Het |
Scn2a |
T |
C |
2: 65,594,827 (GRCm39) |
V1892A |
probably benign |
Het |
Sema6a |
G |
A |
18: 47,381,893 (GRCm39) |
R885C |
probably damaging |
Het |
Sik2 |
T |
C |
9: 50,807,145 (GRCm39) |
H755R |
probably benign |
Het |
Slc36a3 |
A |
T |
11: 55,026,094 (GRCm39) |
Y241* |
probably null |
Het |
Smg5 |
T |
C |
3: 88,258,925 (GRCm39) |
|
probably benign |
Het |
Spag9 |
A |
G |
11: 94,005,079 (GRCm39) |
T1049A |
probably benign |
Het |
Tas2r103 |
T |
C |
6: 133,013,908 (GRCm39) |
M53V |
probably benign |
Het |
Tpr |
C |
T |
1: 150,299,292 (GRCm39) |
A1090V |
probably damaging |
Het |
Traf5 |
T |
A |
1: 191,729,633 (GRCm39) |
R473W |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,175,707 (GRCm39) |
|
probably null |
Het |
Vit |
A |
G |
17: 78,853,855 (GRCm39) |
T34A |
probably benign |
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 |
IGL01585:Scfd1
|
APN |
12 |
51,462,336 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCACTGAGTTACCTCCAG -3'
(R):5'- GGAGAATCACAGCTATTCCAGG -3'
Sequencing Primer
(F):5'- GCTGTGCATTAGGGAATCTCAG -3'
(R):5'- CAGCTATTCCAGGAAGCCAGG -3'
|
Posted On |
2016-12-15 |