Incidental Mutation 'R8122:Scfd1'
ID |
631564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scfd1
|
Ensembl Gene |
ENSMUSG00000020952 |
Gene Name |
Sec1 family domain containing 1 |
Synonyms |
RA410, STXBP1L2, 3110021P21Rik |
MMRRC Submission |
067551-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R8122 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
51424296-51496887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51480052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 528
(V528E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021335]
|
AlphaFold |
Q8BRF7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021335
AA Change: V528E
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021335 Gene: ENSMUSG00000020952 AA Change: V528E
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
41 |
632 |
1.6e-109 |
PFAM |
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.5%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
A |
G |
16: 8,433,761 (GRCm39) |
Y426C |
probably damaging |
Het |
Acsbg3 |
T |
A |
17: 57,193,670 (GRCm39) |
V672E |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Ahnak2 |
T |
C |
12: 112,742,510 (GRCm39) |
S521G |
possibly damaging |
Het |
Amer2 |
A |
T |
14: 60,616,791 (GRCm39) |
M329L |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,761,293 (GRCm39) |
N1048S |
probably damaging |
Het |
Asah1 |
T |
C |
8: 41,796,767 (GRCm39) |
E305G |
probably benign |
Het |
AW551984 |
T |
A |
9: 39,510,665 (GRCm39) |
K223N |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,927,417 (GRCm39) |
|
probably null |
Het |
C1qtnf6 |
T |
C |
15: 78,411,446 (GRCm39) |
N77D |
probably benign |
Het |
Capn13 |
T |
A |
17: 73,674,205 (GRCm39) |
I83F |
probably damaging |
Het |
Cd6 |
A |
G |
19: 10,770,231 (GRCm39) |
F487L |
probably damaging |
Het |
Cit |
T |
C |
5: 116,107,069 (GRCm39) |
V1067A |
probably damaging |
Het |
Cspg4b |
A |
T |
13: 113,455,442 (GRCm39) |
D496V |
|
Het |
Csrnp1 |
T |
C |
9: 119,802,273 (GRCm39) |
D262G |
probably damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,276,744 (GRCm39) |
Q65L |
probably benign |
Het |
Dbt |
T |
A |
3: 116,313,891 (GRCm39) |
C19* |
probably null |
Het |
Dgkg |
A |
C |
16: 22,385,295 (GRCm39) |
|
probably null |
Het |
Eif4g2 |
T |
C |
7: 110,677,760 (GRCm39) |
I118V |
possibly damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Gpr158 |
A |
T |
2: 21,831,674 (GRCm39) |
M925L |
probably benign |
Het |
Kcnn2 |
T |
G |
18: 45,810,005 (GRCm39) |
V414G |
probably damaging |
Het |
Lama2 |
G |
A |
10: 26,930,592 (GRCm39) |
H2055Y |
possibly damaging |
Het |
Loxl3 |
T |
A |
6: 83,026,240 (GRCm39) |
W443R |
probably damaging |
Het |
Mab21l1 |
A |
T |
3: 55,690,905 (GRCm39) |
D164V |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
Or2y1f |
C |
A |
11: 49,184,401 (GRCm39) |
N84K |
probably damaging |
Het |
Or8g35 |
A |
G |
9: 39,381,822 (GRCm39) |
S67P |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,632,682 (GRCm39) |
E578K |
probably damaging |
Het |
Pld2 |
T |
A |
11: 70,432,259 (GRCm39) |
L126* |
probably null |
Het |
Polk |
A |
T |
13: 96,620,291 (GRCm39) |
N716K |
probably benign |
Het |
Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,170,295 (GRCm39) |
K669E |
probably benign |
Het |
Sag |
A |
G |
1: 87,762,289 (GRCm39) |
D318G |
probably damaging |
Het |
Scn4a |
A |
G |
11: 106,221,157 (GRCm39) |
L834P |
probably benign |
Het |
Shank1 |
G |
T |
7: 43,983,015 (GRCm39) |
G637V |
unknown |
Het |
Slc12a6 |
A |
G |
2: 112,097,167 (GRCm39) |
M1V |
probably null |
Het |
St6gal1 |
A |
G |
16: 23,173,644 (GRCm39) |
K242R |
probably benign |
Het |
Syt3 |
A |
G |
7: 44,045,153 (GRCm39) |
Y495C |
probably damaging |
Het |
Taar8c |
C |
T |
10: 23,977,107 (GRCm39) |
S235N |
probably benign |
Het |
Tmem183a |
A |
T |
1: 134,282,503 (GRCm39) |
C201S |
probably benign |
Het |
Top2a |
T |
C |
11: 98,889,993 (GRCm39) |
I1237V |
probably benign |
Het |
Trub1 |
G |
T |
19: 57,473,563 (GRCm39) |
V207L |
probably benign |
Het |
Ttll13 |
T |
A |
7: 79,909,217 (GRCm39) |
I634N |
probably benign |
Het |
Ube2j1 |
T |
G |
4: 33,045,145 (GRCm39) |
N208K |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,118,011 (GRCm39) |
S569P |
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 |
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 |
|
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 |
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'- CTGCAGCAATGATATCCATGG -3'
(R):5'- AGAAGTCTTATTTCCCTACTATGCC -3'
Sequencing Primer
(F):5'- TCCATGGAAGTAGAAATGTTCACAGC -3'
(R):5'- GCCAATAAGGATCCTTTGGTTC -3'
|
Posted On |
2020-06-30 |