Incidental Mutation 'IGL02000:Scfd1'
ID |
183005 |
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 # |
IGL02000
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
51424296-51496887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51460900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 337
(S337T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151347
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021335]
[ENSMUST00000219434]
|
AlphaFold |
Q8BRF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021335
AA Change: S337T
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000021335 Gene: ENSMUSG00000020952 AA Change: S337T
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
41 |
632 |
1.6e-109 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219434
AA Change: S337T
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid5a |
T |
C |
1: 36,358,578 (GRCm39) |
F450S |
probably damaging |
Het |
Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
Cd101 |
G |
A |
3: 100,919,398 (GRCm39) |
P568L |
probably benign |
Het |
Cdkl4 |
T |
C |
17: 80,851,192 (GRCm39) |
E170G |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,074,413 (GRCm39) |
E240G |
probably benign |
Het |
Duox2 |
T |
C |
2: 122,121,190 (GRCm39) |
T741A |
probably benign |
Het |
Eef2 |
T |
C |
10: 81,015,845 (GRCm39) |
V427A |
probably benign |
Het |
Ewsr1 |
T |
C |
11: 5,038,077 (GRCm39) |
D105G |
probably damaging |
Het |
Ftsj3 |
C |
T |
11: 106,141,233 (GRCm39) |
R629Q |
probably benign |
Het |
Gm10406 |
C |
T |
14: 18,341,703 (GRCm39) |
G181E |
probably benign |
Het |
Ilk |
A |
G |
7: 105,390,376 (GRCm39) |
H185R |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,116,179 (GRCm39) |
C1001S |
probably damaging |
Het |
Mcidas |
T |
C |
13: 113,133,974 (GRCm39) |
S153P |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,661,185 (GRCm39) |
E931G |
probably benign |
Het |
Myo10 |
C |
T |
15: 25,808,152 (GRCm39) |
R1925C |
probably damaging |
Het |
Notch3 |
A |
G |
17: 32,341,716 (GRCm39) |
V2012A |
probably damaging |
Het |
Or6c76 |
C |
A |
10: 129,611,938 (GRCm39) |
H67N |
probably benign |
Het |
Parp6 |
A |
G |
9: 59,556,175 (GRCm39) |
M542V |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,992,254 (GRCm39) |
G94D |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,296,034 (GRCm39) |
|
probably benign |
Het |
Rassf4 |
T |
C |
6: 116,622,933 (GRCm39) |
E26G |
probably benign |
Het |
Rnf166 |
C |
T |
8: 123,193,961 (GRCm39) |
D221N |
probably damaging |
Het |
Rptn |
G |
T |
3: 93,303,735 (GRCm39) |
G356V |
probably benign |
Het |
Rwdd2b |
T |
A |
16: 87,233,828 (GRCm39) |
|
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,302,835 (GRCm39) |
D678V |
probably damaging |
Het |
Sidt1 |
A |
T |
16: 44,106,732 (GRCm39) |
F233I |
probably damaging |
Het |
Slc12a4 |
T |
C |
8: 106,671,864 (GRCm39) |
D917G |
probably damaging |
Het |
Slc22a2 |
A |
T |
17: 12,803,270 (GRCm39) |
I35F |
possibly damaging |
Het |
Smco1 |
A |
T |
16: 32,092,751 (GRCm39) |
T141S |
possibly damaging |
Het |
Svs6 |
T |
C |
2: 164,159,352 (GRCm39) |
|
probably benign |
Het |
Syne2 |
C |
T |
12: 76,062,419 (GRCm39) |
A4247V |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,330,898 (GRCm39) |
|
probably null |
Het |
Tgm4 |
A |
T |
9: 122,885,531 (GRCm39) |
I358F |
probably damaging |
Het |
Thnsl2 |
A |
G |
6: 71,111,203 (GRCm39) |
S222P |
probably damaging |
Het |
Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
Ube2l6 |
T |
C |
2: 84,639,506 (GRCm39) |
|
probably benign |
Het |
Usp10 |
T |
A |
8: 120,675,480 (GRCm39) |
Y63N |
possibly damaging |
Het |
Vit |
A |
G |
17: 78,912,915 (GRCm39) |
I283V |
possibly damaging |
Het |
Vmn1r214 |
G |
A |
13: 23,219,270 (GRCm39) |
V255I |
possibly damaging |
Het |
Xpo1 |
A |
G |
11: 23,246,003 (GRCm39) |
R1038G |
probably damaging |
Het |
Ybx1 |
T |
A |
4: 119,139,509 (GRCm39) |
N50I |
probably damaging |
Het |
Zhx1 |
T |
C |
15: 57,917,683 (GRCm39) |
K188E |
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 |
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 |
2014-05-07 |