Incidental Mutation 'IGL00419:Sft2d1'
| ID |
29219 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sft2d1
|
| Ensembl Gene |
ENSMUSG00000073468 |
| Gene Name |
SFT2 domain containing 1 |
| Synonyms |
5630401J11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
IGL00419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
8529934-8546274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8539437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 80
(C80Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000130782]
[ENSMUST00000145276]
[ENSMUST00000154553]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128087
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130782
AA Change: M23I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141213
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145276
AA Change: M23I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154553
AA Change: C80Y
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117294
Gene: ENSMUSG00000073468
AA Change: C80Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Got1
|
43 |
154 |
3.5e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153406
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a4 |
A |
C |
1: 172,067,373 (GRCm39) |
N586K |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,686,027 (GRCm39) |
M201T |
probably benign |
Het |
| Bcap29 |
A |
T |
12: 31,680,871 (GRCm39) |
F38L |
probably benign |
Het |
| Bdkrb2 |
A |
G |
12: 105,554,562 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
T |
7: 17,493,481 (GRCm39) |
E835* |
probably null |
Het |
| Cenpp |
T |
C |
13: 49,801,132 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,804,574 (GRCm39) |
V51A |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,313,951 (GRCm39) |
N1660D |
probably damaging |
Het |
| Exosc9 |
T |
C |
3: 36,607,288 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,085,332 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
A |
5: 137,622,563 (GRCm39) |
R68C |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,241,943 (GRCm39) |
I205V |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,607,436 (GRCm39) |
Y346C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,810,818 (GRCm39) |
Y1706H |
probably damaging |
Het |
| Igsf9b |
A |
G |
9: 27,230,951 (GRCm39) |
Y318C |
probably damaging |
Het |
| Map1a |
A |
T |
2: 121,129,508 (GRCm39) |
Q182L |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,783 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
G |
A |
19: 53,831,695 (GRCm39) |
R643Q |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,967,150 (GRCm39) |
C1707S |
probably damaging |
Het |
| Rpgrip1l |
G |
T |
8: 91,990,202 (GRCm39) |
R747S |
possibly damaging |
Het |
| Rsph10b |
T |
C |
5: 143,873,905 (GRCm39) |
*166R |
probably null |
Het |
| Zdhhc14 |
T |
C |
17: 5,802,959 (GRCm39) |
|
probably benign |
Het |
| Zfp300 |
T |
A |
X: 20,948,531 (GRCm39) |
Y411F |
probably damaging |
Het |
| Zfp92 |
T |
C |
X: 72,463,764 (GRCm39) |
|
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,711 (GRCm39) |
F512L |
probably damaging |
Het |
|
| Other mutations in Sft2d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4131001:Sft2d1
|
UTSW |
17 |
8,609,863 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0244:Sft2d1
|
UTSW |
17 |
8,538,254 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0571:Sft2d1
|
UTSW |
17 |
8,545,782 (GRCm39) |
splice site |
probably benign |
|
|
R1263:Sft2d1
|
UTSW |
17 |
8,539,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3922:Sft2d1
|
UTSW |
17 |
8,537,714 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4388:Sft2d1
|
UTSW |
17 |
8,539,469 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5854:Sft2d1
|
UTSW |
17 |
8,539,485 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6833:Sft2d1
|
UTSW |
17 |
8,537,707 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7188:Sft2d1
|
UTSW |
17 |
8,542,164 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9417:Sft2d1
|
UTSW |
17 |
8,542,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9663:Sft2d1
|
UTSW |
17 |
8,545,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation