Incidental Mutation 'IGL02032:Fam114a1'
ID |
184406 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam114a1
|
Ensembl Gene |
ENSMUSG00000029185 |
Gene Name |
family with sequence similarity 114, member A1 |
Synonyms |
1190001N04Rik, 9130005N14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02032
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
65127459-65199217 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65172714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 284
(V284E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031080]
|
AlphaFold |
Q9D281 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031080
AA Change: V284E
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000031080 Gene: ENSMUSG00000029185 AA Change: V284E
Domain | Start | End | E-Value | Type |
Pfam:DUF719
|
125 |
300 |
5e-65 |
PFAM |
low complexity region
|
355 |
365 |
N/A |
INTRINSIC |
low complexity region
|
413 |
432 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
T |
A |
5: 62,828,340 (GRCm39) |
I944F |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,622,796 (GRCm39) |
K614R |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,703,767 (GRCm39) |
|
probably null |
Het |
Cfhr4 |
G |
A |
1: 139,702,284 (GRCm39) |
P67S |
probably damaging |
Het |
Cps1 |
A |
T |
1: 67,269,474 (GRCm39) |
Y1491F |
probably benign |
Het |
Dennd2d |
T |
C |
3: 106,398,543 (GRCm39) |
I176T |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 30,996,326 (GRCm39) |
Y2670C |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,107,769 (GRCm39) |
H833L |
probably damaging |
Het |
Ell |
G |
A |
8: 71,038,651 (GRCm39) |
A463T |
probably benign |
Het |
Emsy |
G |
T |
7: 98,239,987 (GRCm39) |
D1089E |
possibly damaging |
Het |
Erc1 |
T |
G |
6: 119,607,570 (GRCm39) |
K677N |
probably damaging |
Het |
Exd1 |
T |
G |
2: 119,363,948 (GRCm39) |
Q140P |
probably damaging |
Het |
Fbxo36 |
A |
G |
1: 84,874,387 (GRCm39) |
|
probably benign |
Het |
Fig4 |
A |
T |
10: 41,179,002 (GRCm39) |
V16E |
probably benign |
Het |
H2-M1 |
A |
T |
17: 36,982,768 (GRCm39) |
Y31N |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,665,886 (GRCm39) |
|
probably benign |
Het |
Nol8 |
A |
G |
13: 49,826,248 (GRCm39) |
T1023A |
probably benign |
Het |
Or1b1 |
A |
T |
2: 36,994,773 (GRCm39) |
S296R |
probably damaging |
Het |
Pygm |
A |
T |
19: 6,438,117 (GRCm39) |
T141S |
probably benign |
Het |
Soat1 |
A |
G |
1: 156,268,145 (GRCm39) |
I254T |
probably benign |
Het |
Spopfm1 |
T |
C |
3: 94,173,640 (GRCm39) |
V212A |
probably damaging |
Het |
Stat5a |
A |
T |
11: 100,752,654 (GRCm39) |
D79V |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,774,432 (GRCm39) |
T2158N |
probably damaging |
Het |
Usp29 |
A |
G |
7: 6,965,017 (GRCm39) |
K287E |
probably benign |
Het |
Vav1 |
A |
T |
17: 57,604,090 (GRCm39) |
E164V |
possibly damaging |
Het |
Vmn2r3 |
T |
A |
3: 64,182,476 (GRCm39) |
T408S |
possibly damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,949,466 (GRCm39) |
I629F |
probably damaging |
Het |
|
Other mutations in Fam114a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00674:Fam114a1
|
APN |
5 |
65,137,347 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01013:Fam114a1
|
APN |
5 |
65,188,738 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02117:Fam114a1
|
APN |
5 |
65,187,465 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02388:Fam114a1
|
APN |
5 |
65,166,323 (GRCm39) |
unclassified |
probably benign |
|
IGL02563:Fam114a1
|
APN |
5 |
65,163,491 (GRCm39) |
splice site |
probably null |
|
IGL02803:Fam114a1
|
APN |
5 |
65,163,135 (GRCm39) |
splice site |
probably benign |
|
R1183:Fam114a1
|
UTSW |
5 |
65,191,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R2073:Fam114a1
|
UTSW |
5 |
65,153,247 (GRCm39) |
critical splice donor site |
probably null |
|
R2086:Fam114a1
|
UTSW |
5 |
65,137,402 (GRCm39) |
missense |
probably benign |
0.39 |
R3834:Fam114a1
|
UTSW |
5 |
65,163,416 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4519:Fam114a1
|
UTSW |
5 |
65,163,225 (GRCm39) |
missense |
probably benign |
|
R4749:Fam114a1
|
UTSW |
5 |
65,166,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Fam114a1
|
UTSW |
5 |
65,137,070 (GRCm39) |
missense |
probably damaging |
0.97 |
R5038:Fam114a1
|
UTSW |
5 |
65,166,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R5096:Fam114a1
|
UTSW |
5 |
65,137,234 (GRCm39) |
missense |
probably benign |
|
R5368:Fam114a1
|
UTSW |
5 |
65,163,452 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5460:Fam114a1
|
UTSW |
5 |
65,185,776 (GRCm39) |
missense |
probably damaging |
0.99 |
R5734:Fam114a1
|
UTSW |
5 |
65,166,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R6242:Fam114a1
|
UTSW |
5 |
65,188,695 (GRCm39) |
missense |
probably damaging |
0.98 |
R6950:Fam114a1
|
UTSW |
5 |
65,137,322 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7460:Fam114a1
|
UTSW |
5 |
65,196,050 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7570:Fam114a1
|
UTSW |
5 |
65,187,402 (GRCm39) |
splice site |
probably null |
|
R8913:Fam114a1
|
UTSW |
5 |
65,185,821 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9095:Fam114a1
|
UTSW |
5 |
65,188,733 (GRCm39) |
missense |
probably benign |
0.08 |
R9171:Fam114a1
|
UTSW |
5 |
65,191,713 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9203:Fam114a1
|
UTSW |
5 |
65,137,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R9318:Fam114a1
|
UTSW |
5 |
65,153,227 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9640:Fam114a1
|
UTSW |
5 |
65,166,394 (GRCm39) |
missense |
probably damaging |
0.99 |
R9656:Fam114a1
|
UTSW |
5 |
65,163,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |