Incidental Mutation 'R4356:Scfd1'
ID |
377754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scfd1
|
Ensembl Gene |
ENSMUSG00000020952 |
Gene Name |
Sec1 family domain containing 1 |
Synonyms |
RA410, STXBP1L2, 3110021P21Rik |
MMRRC Submission |
041669-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R4356 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
51424296-51496887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51486068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 541
(N541K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021335]
|
AlphaFold |
Q8BRF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021335
AA Change: N541K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000021335 Gene: ENSMUSG00000020952 AA Change: N541K
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
41 |
632 |
1.6e-109 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218138
AA Change: N122K
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219686
|
Meta Mutation Damage Score |
0.0712 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
T |
A |
3: 59,843,701 (GRCm39) |
Y132N |
probably damaging |
Het |
Adam21 |
T |
C |
12: 81,605,594 (GRCm39) |
T723A |
probably damaging |
Het |
Alox5 |
C |
T |
6: 116,397,219 (GRCm39) |
V322I |
probably benign |
Het |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,776,096 (GRCm39) |
K1482* |
probably null |
Het |
Cacna1e |
A |
C |
1: 154,319,727 (GRCm39) |
D1324E |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,392,213 (GRCm39) |
D657G |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,863,028 (GRCm39) |
S1335P |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,660,048 (GRCm39) |
K621N |
probably damaging |
Het |
Cspg5 |
A |
G |
9: 110,085,245 (GRCm39) |
D391G |
probably damaging |
Het |
Defa30 |
A |
T |
8: 21,624,821 (GRCm39) |
D48V |
possibly damaging |
Het |
E2f7 |
T |
C |
10: 110,595,712 (GRCm39) |
Y136H |
probably damaging |
Het |
Fam3d |
A |
G |
14: 8,349,314 (GRCm38) |
L212P |
probably damaging |
Het |
Fbxw25 |
A |
T |
9: 109,491,153 (GRCm39) |
C122S |
probably damaging |
Het |
Fgg |
A |
T |
3: 82,920,250 (GRCm39) |
D343V |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,922,700 (GRCm38) |
M1712K |
probably benign |
Het |
Fnbp4 |
T |
C |
2: 90,588,683 (GRCm39) |
S485P |
probably damaging |
Het |
Ftsj3 |
G |
A |
11: 106,144,502 (GRCm39) |
A134V |
probably benign |
Het |
Gast |
C |
A |
11: 100,227,373 (GRCm39) |
S22Y |
probably damaging |
Het |
Gm20834 |
T |
A |
Y: 10,322,962 (GRCm39) |
H158L |
possibly damaging |
Het |
Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Impg2 |
C |
T |
16: 56,080,527 (GRCm39) |
T777I |
probably damaging |
Het |
Kif11 |
C |
A |
19: 37,399,883 (GRCm39) |
T790K |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,703,802 (GRCm39) |
D264G |
probably benign |
Het |
Nipsnap3a |
T |
C |
4: 52,995,979 (GRCm39) |
|
probably null |
Het |
Or10al3 |
G |
T |
17: 38,011,790 (GRCm39) |
E76D |
probably damaging |
Het |
Or5w14 |
G |
A |
2: 87,542,229 (GRCm39) |
S7F |
possibly damaging |
Het |
P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
Pcdhga4 |
C |
T |
18: 37,820,664 (GRCm39) |
H738Y |
probably damaging |
Het |
Prickle2 |
A |
T |
6: 92,388,490 (GRCm39) |
I304K |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,444,225 (GRCm39) |
Y1460N |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,833,735 (GRCm39) |
D812G |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,278,427 (GRCm39) |
T737A |
possibly damaging |
Het |
Rbsn |
G |
A |
6: 92,184,029 (GRCm39) |
L95F |
possibly damaging |
Het |
Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
Scube3 |
G |
A |
17: 28,383,283 (GRCm39) |
G442S |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Smarcc1 |
A |
G |
9: 110,025,324 (GRCm39) |
D667G |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,193,113 (GRCm39) |
|
probably null |
Het |
Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
Sun3 |
A |
G |
11: 8,966,328 (GRCm39) |
V231A |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,499,910 (GRCm39) |
D108E |
probably benign |
Het |
Xdh |
A |
G |
17: 74,222,685 (GRCm39) |
V560A |
probably benign |
Het |
Zfp352 |
T |
A |
4: 90,112,071 (GRCm39) |
H70Q |
possibly damaging |
Het |
Zfp40 |
C |
A |
17: 23,396,164 (GRCm39) |
C73F |
probably benign |
Het |
Zfp975 |
A |
C |
7: 42,311,251 (GRCm39) |
L454R |
probably damaging |
Het |
Zik1 |
A |
T |
7: 10,224,268 (GRCm39) |
C276* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGCCCTGGAAATGCTTTG -3'
(R):5'- TGCCACTGAGAACATGGACTC -3'
Sequencing Primer
(F):5'- CCCTGGAAATGCTTTGAATTTTGC -3'
(R):5'- CACTGAGAACATGGACTCTTTGC -3'
|
Posted On |
2016-04-01 |