Incidental Mutation 'IGL00674:Fam114a1'
| ID |
10609 |
| 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 # |
IGL00674
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
65127459-65199217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65137347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 97
(S97T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031080]
[ENSMUST00000139366]
|
| AlphaFold |
Q9D281 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031080
AA Change: S97T
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031080
Gene: ENSMUSG00000029185
AA Change: S97T
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139366
AA Change: S97T
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119284
Gene: ENSMUSG00000029185
AA Change: S97T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF719
|
121 |
177 |
7e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
T |
A |
15: 57,971,782 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Cd2ap |
A |
T |
17: 43,119,676 (GRCm39) |
N492K |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,233,658 (GRCm39) |
M324I |
possibly damaging |
Het |
| Gpx6 |
A |
G |
13: 21,497,978 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,329,949 (GRCm39) |
T108A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,899,773 (GRCm39) |
I26T |
possibly damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,303 (GRCm39) |
G454S |
probably benign |
Het |
| Mrpl20 |
T |
C |
4: 155,893,041 (GRCm39) |
F91L |
probably benign |
Het |
| Nt5c3b |
A |
T |
11: 100,323,735 (GRCm39) |
|
probably benign |
Het |
| Osbpl2 |
T |
C |
2: 179,792,051 (GRCm39) |
Y252H |
possibly damaging |
Het |
| Pard3 |
A |
G |
8: 128,115,159 (GRCm39) |
N626D |
probably damaging |
Het |
| Pbrm1 |
C |
T |
14: 30,840,733 (GRCm39) |
P1612S |
probably damaging |
Het |
| Prl3d3 |
T |
C |
13: 27,343,114 (GRCm39) |
|
probably null |
Het |
| Sall4 |
T |
C |
2: 168,597,700 (GRCm39) |
D380G |
probably damaging |
Het |
| Sema3b |
A |
C |
9: 107,481,240 (GRCm39) |
|
probably null |
Het |
| Spred1 |
C |
T |
2: 117,008,339 (GRCm39) |
P415L |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,883,844 (GRCm39) |
D1958V |
probably damaging |
Het |
| Tnfsf15 |
A |
G |
4: 63,652,483 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,229,876 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fam114a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Fam114a1
|
APN |
5 |
65,188,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02032:Fam114a1
|
APN |
5 |
65,172,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
2012-12-06 |
Incidental Mutation