Incidental Mutation 'R5275:Scfd1'
ID |
403896 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scfd1
|
Ensembl Gene |
ENSMUSG00000020952 |
Gene Name |
Sec1 family domain containing 1 |
Synonyms |
RA410, STXBP1L2, 3110021P21Rik |
MMRRC Submission |
042838-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R5275 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
51424296-51496887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51462372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 409
(H409L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021335]
[ENSMUST00000219434]
|
AlphaFold |
Q8BRF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021335
AA Change: H409L
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000021335 Gene: ENSMUSG00000020952 AA Change: H409L
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
41 |
632 |
1.6e-109 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219434
|
Meta Mutation Damage Score |
0.0957 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,092,856 (GRCm39) |
R155H |
probably benign |
Het |
Abcc1 |
C |
T |
16: 14,284,050 (GRCm39) |
L1222F |
probably damaging |
Het |
Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
Apold1 |
G |
T |
6: 134,960,763 (GRCm39) |
L72F |
probably damaging |
Het |
Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
Becn2 |
A |
G |
1: 175,748,336 (GRCm39) |
H134R |
probably benign |
Het |
Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
Chd6 |
A |
G |
2: 160,811,283 (GRCm39) |
L1440P |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,519,340 (GRCm39) |
S279P |
probably damaging |
Het |
Cma1 |
A |
T |
14: 56,179,157 (GRCm39) |
I233N |
probably damaging |
Het |
Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,219,229 (GRCm39) |
S1890P |
probably benign |
Het |
Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
Gm5117 |
T |
A |
8: 32,229,595 (GRCm39) |
|
noncoding transcript |
Het |
H2-T5 |
T |
C |
17: 36,472,567 (GRCm39) |
|
probably null |
Het |
Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
Opa1 |
C |
T |
16: 29,430,397 (GRCm39) |
T451I |
probably damaging |
Het |
Or2bd2 |
A |
T |
7: 6,443,015 (GRCm39) |
T39S |
probably benign |
Het |
Or4f15 |
T |
A |
2: 111,814,174 (GRCm39) |
I82F |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,953 (GRCm39) |
I48F |
probably benign |
Het |
Pcdh12 |
T |
A |
18: 38,417,154 (GRCm39) |
|
probably benign |
Het |
Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
Ppan |
T |
A |
9: 20,801,069 (GRCm39) |
Y115* |
probably null |
Het |
Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
Ptpn20 |
A |
G |
14: 33,353,149 (GRCm39) |
H296R |
probably benign |
Het |
Rergl |
A |
G |
6: 139,478,819 (GRCm39) |
|
probably null |
Het |
Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
Slc24a5 |
C |
T |
2: 124,927,781 (GRCm39) |
T360I |
probably benign |
Het |
Snx6 |
T |
C |
12: 54,830,807 (GRCm39) |
H51R |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,942,198 (GRCm39) |
V1009D |
probably benign |
Het |
Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
Tlk1 |
C |
T |
2: 70,582,549 (GRCm39) |
|
probably benign |
Het |
Tnc |
G |
A |
4: 63,882,967 (GRCm39) |
Q1885* |
probably null |
Het |
Vcl |
T |
C |
14: 21,060,146 (GRCm39) |
V595A |
probably damaging |
Het |
Vmn1r84 |
A |
T |
7: 12,095,741 (GRCm39) |
N305K |
probably benign |
Het |
Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGTGGTCTTGAGCTCCC -3'
(R):5'- CACATGGCTGTGTGTTAAGG -3'
Sequencing Primer
(F):5'- TGAGCTCCCTCAGGAAGC -3'
(R):5'- CAGTACTGAGACACTGCAGGC -3'
|
Posted On |
2016-07-22 |