Incidental Mutation 'IGL02371:Fam217a'
ID |
290945 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam217a
|
Ensembl Gene |
ENSMUSG00000021414 |
Gene Name |
family with sequence similarity 217, member A |
Synonyms |
1700026J04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
IGL02371
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
35093943-35108293 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35095384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 125
(N125S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021851]
[ENSMUST00000223834]
[ENSMUST00000225242]
|
AlphaFold |
Q9D9W6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021851
AA Change: N125S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000021851 Gene: ENSMUSG00000021414 AA Change: N125S
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
Pfam:FAM217
|
206 |
411 |
2e-54 |
PFAM |
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
low complexity region
|
444 |
455 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223834
AA Change: N277S
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224613
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225242
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
Fbxo32 |
A |
T |
15: 58,044,860 (GRCm39) |
|
probably benign |
Het |
Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
Gimap5 |
A |
T |
6: 48,729,937 (GRCm39) |
N169I |
probably damaging |
Het |
Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
Klhl14 |
G |
A |
18: 21,785,238 (GRCm39) |
S63F |
probably damaging |
Het |
Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
Lrrc17 |
T |
C |
5: 21,765,994 (GRCm39) |
Y159H |
probably damaging |
Het |
Lzts1 |
A |
T |
8: 69,591,450 (GRCm39) |
S233T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
Or11i1 |
A |
T |
3: 106,729,362 (GRCm39) |
F171Y |
probably damaging |
Het |
Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
Pde9a |
T |
A |
17: 31,639,259 (GRCm39) |
V63D |
possibly damaging |
Het |
Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
Rad51ap1 |
T |
C |
6: 126,904,527 (GRCm39) |
N119S |
probably benign |
Het |
Rbm22 |
C |
T |
18: 60,705,028 (GRCm39) |
|
probably benign |
Het |
Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
Ugt2b5 |
A |
T |
5: 87,275,535 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Fam217a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01386:Fam217a
|
APN |
13 |
35,099,632 (GRCm39) |
splice site |
probably benign |
|
IGL02222:Fam217a
|
APN |
13 |
35,095,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02302:Fam217a
|
APN |
13 |
35,095,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02538:Fam217a
|
APN |
13 |
35,095,096 (GRCm39) |
missense |
probably damaging |
0.98 |
R0324:Fam217a
|
UTSW |
13 |
35,094,944 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0616:Fam217a
|
UTSW |
13 |
35,097,666 (GRCm39) |
missense |
probably benign |
0.03 |
R1497:Fam217a
|
UTSW |
13 |
35,095,195 (GRCm39) |
missense |
probably damaging |
0.97 |
R1934:Fam217a
|
UTSW |
13 |
35,094,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R1981:Fam217a
|
UTSW |
13 |
35,100,737 (GRCm39) |
missense |
probably benign |
0.07 |
R2133:Fam217a
|
UTSW |
13 |
35,097,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R2344:Fam217a
|
UTSW |
13 |
35,094,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4182:Fam217a
|
UTSW |
13 |
35,094,239 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4601:Fam217a
|
UTSW |
13 |
35,095,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Fam217a
|
UTSW |
13 |
35,094,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Fam217a
|
UTSW |
13 |
35,094,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R6027:Fam217a
|
UTSW |
13 |
35,094,977 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6496:Fam217a
|
UTSW |
13 |
35,094,785 (GRCm39) |
nonsense |
probably null |
|
R7166:Fam217a
|
UTSW |
13 |
35,094,298 (GRCm39) |
missense |
probably benign |
0.07 |
R7394:Fam217a
|
UTSW |
13 |
35,094,262 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7710:Fam217a
|
UTSW |
13 |
35,095,111 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8409:Fam217a
|
UTSW |
13 |
35,100,881 (GRCm39) |
missense |
probably benign |
|
R8716:Fam217a
|
UTSW |
13 |
35,108,248 (GRCm39) |
start gained |
probably benign |
|
R8782:Fam217a
|
UTSW |
13 |
35,095,033 (GRCm39) |
missense |
probably benign |
|
R8936:Fam217a
|
UTSW |
13 |
35,095,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R9036:Fam217a
|
UTSW |
13 |
35,095,007 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9333:Fam217a
|
UTSW |
13 |
35,100,876 (GRCm39) |
missense |
probably benign |
0.00 |
R9347:Fam217a
|
UTSW |
13 |
35,094,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |