Incidental Mutation 'IGL01386:Fam217a'
ID |
79063 |
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 # |
IGL01386
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
35093943-35108293 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 35099632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021851]
[ENSMUST00000223834]
[ENSMUST00000225242]
|
AlphaFold |
Q9D9W6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021851
|
SMART Domains |
Protein: ENSMUSP00000021851 Gene: ENSMUSG00000021414
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
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
C |
12: 80,240,446 (GRCm39) |
R214G |
probably benign |
Het |
Cacna1e |
T |
A |
1: 154,348,123 (GRCm39) |
K817N |
probably benign |
Het |
Cyp3a16 |
A |
G |
5: 145,377,244 (GRCm39) |
F448L |
probably damaging |
Het |
Dpp6 |
T |
A |
5: 27,869,760 (GRCm39) |
|
probably null |
Het |
Eif2ak3 |
C |
T |
6: 70,869,710 (GRCm39) |
T799M |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,383,090 (GRCm39) |
S302R |
probably damaging |
Het |
Flt4 |
C |
A |
11: 49,528,162 (GRCm39) |
A995D |
probably benign |
Het |
Fpr-rs7 |
G |
A |
17: 20,334,454 (GRCm39) |
S12L |
probably damaging |
Het |
Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
Hpcal4 |
T |
C |
4: 123,083,035 (GRCm39) |
|
probably null |
Het |
Intu |
A |
T |
3: 40,647,017 (GRCm39) |
D630V |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,136,933 (GRCm39) |
D703G |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,887,060 (GRCm39) |
I122V |
probably benign |
Het |
Mrpl11 |
A |
C |
19: 5,013,409 (GRCm39) |
K92T |
probably null |
Het |
Mtarc2 |
A |
G |
1: 184,551,413 (GRCm39) |
|
probably benign |
Het |
Mylk |
A |
G |
16: 34,791,610 (GRCm39) |
|
probably null |
Het |
Or52ab4 |
A |
T |
7: 102,987,974 (GRCm39) |
K238* |
probably null |
Het |
Parpbp |
A |
C |
10: 87,975,848 (GRCm39) |
Y88* |
probably null |
Het |
Plod2 |
G |
A |
9: 92,488,655 (GRCm39) |
R627Q |
probably damaging |
Het |
Rapsn |
G |
T |
2: 90,867,144 (GRCm39) |
A149S |
probably damaging |
Het |
Ripk3 |
T |
G |
14: 56,023,484 (GRCm39) |
Q109P |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,318,361 (GRCm39) |
D401G |
probably damaging |
Het |
Serpine2 |
G |
A |
1: 79,779,268 (GRCm39) |
T150I |
probably damaging |
Het |
Sh2d6 |
T |
A |
6: 72,495,945 (GRCm39) |
T98S |
probably benign |
Het |
Slc28a1 |
G |
T |
7: 80,814,427 (GRCm39) |
A513S |
probably benign |
Het |
Tanc2 |
T |
C |
11: 105,777,207 (GRCm39) |
F795S |
probably damaging |
Het |
Tcim |
T |
A |
8: 24,928,705 (GRCm39) |
I70F |
probably benign |
Het |
Thbd |
G |
A |
2: 148,249,602 (GRCm39) |
Q89* |
probably null |
Het |
Tmem115 |
C |
T |
9: 107,411,859 (GRCm39) |
T61I |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,832,259 (GRCm39) |
V650E |
probably damaging |
Het |
Tubgcp6 |
A |
T |
15: 88,992,199 (GRCm39) |
Y595* |
probably null |
Het |
Uroc1 |
C |
T |
6: 90,323,747 (GRCm39) |
A398V |
probably damaging |
Het |
Vmn1r31 |
T |
C |
6: 58,449,587 (GRCm39) |
T93A |
probably benign |
Het |
Vmn2r113 |
A |
G |
17: 23,175,024 (GRCm39) |
E545G |
possibly damaging |
Het |
Vps13a |
A |
G |
19: 16,678,516 (GRCm39) |
V1155A |
possibly damaging |
Het |
Zfp667 |
A |
G |
7: 6,307,869 (GRCm39) |
H179R |
probably benign |
Het |
|
Other mutations in Fam217a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02371:Fam217a
|
APN |
13 |
35,095,384 (GRCm39) |
missense |
possibly damaging |
0.53 |
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 |
2013-11-05 |