Incidental Mutation 'P0026:Fam124a'
| ID |
7986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam124a
|
| Ensembl Gene |
ENSMUSG00000035184 |
| Gene Name |
family with sequence similarity 124, member A |
| Synonyms |
EG629059 |
| MMRRC Submission |
038279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
P0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
62793186-62845935 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 62843571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 360
(L360V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039064]
|
| AlphaFold |
D3Z5V4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039064
AA Change: L360V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047681
Gene: ENSMUSG00000035184
AA Change: L360V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
35 |
N/A |
INTRINSIC |
|
Pfam:FAM124
|
45 |
276 |
2.6e-108 |
PFAM |
|
low complexity region
|
410 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161899
|
| Meta Mutation Damage Score |
0.0677 |
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 78.9%
- 10x: 59.5%
- 20x: 38.1%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,492,882 (GRCm39) |
N182D |
probably benign |
Het |
| Acad10 |
T |
C |
5: 121,775,415 (GRCm39) |
Y429C |
probably damaging |
Het |
| Aifm3 |
A |
T |
16: 17,324,981 (GRCm39) |
|
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,656 (GRCm39) |
H339R |
probably benign |
Het |
| Cpa1 |
T |
A |
6: 30,640,905 (GRCm39) |
M132K |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,865,963 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,612 (GRCm39) |
N2073K |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,355,773 (GRCm39) |
N2227K |
probably damaging |
Het |
| Dnpep |
C |
T |
1: 75,285,329 (GRCm39) |
V468I |
probably benign |
Het |
| Elf3 |
A |
G |
1: 135,183,711 (GRCm39) |
|
probably null |
Het |
| Fam20a |
A |
T |
11: 109,566,667 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,991,792 (GRCm39) |
S140P |
probably damaging |
Het |
| Gm10440 |
T |
C |
5: 54,513,511 (GRCm39) |
|
noncoding transcript |
Het |
| Il12rb1 |
A |
G |
8: 71,265,185 (GRCm39) |
D167G |
probably damaging |
Het |
| Ints8 |
T |
A |
4: 11,225,788 (GRCm39) |
K590* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,150 (GRCm39) |
F500S |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,138,326 (GRCm39) |
V238A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,458,036 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,415,840 (GRCm39) |
V382E |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,081,923 (GRCm39) |
N216S |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,633,672 (GRCm39) |
F63I |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,926,994 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,523,734 (GRCm39) |
Y1751H |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,824,931 (GRCm39) |
P366S |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,084 (GRCm39) |
D372G |
possibly damaging |
Het |
| Zfp354a |
G |
A |
11: 50,952,325 (GRCm39) |
G85R |
probably null |
Het |
|
| Other mutations in Fam124a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01556:Fam124a
|
APN |
14 |
62,825,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02010:Fam124a
|
APN |
14 |
62,824,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Fam124a
|
APN |
14 |
62,793,368 (GRCm39) |
splice site |
probably null |
|
|
IGL03060:Fam124a
|
APN |
14 |
62,843,353 (GRCm39) |
missense |
probably benign |
|
|
R0133:Fam124a
|
UTSW |
14 |
62,843,782 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2044:Fam124a
|
UTSW |
14 |
62,824,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5397:Fam124a
|
UTSW |
14 |
62,843,838 (GRCm39) |
missense |
probably benign |
|
|
R5753:Fam124a
|
UTSW |
14 |
62,843,988 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5988:Fam124a
|
UTSW |
14 |
62,824,986 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7170:Fam124a
|
UTSW |
14 |
62,824,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Fam124a
|
UTSW |
14 |
62,844,008 (GRCm39) |
nonsense |
probably null |
|
|
R7790:Fam124a
|
UTSW |
14 |
62,843,526 (GRCm39) |
missense |
probably benign |
|
|
R8039:Fam124a
|
UTSW |
14 |
62,843,325 (GRCm39) |
nonsense |
probably null |
|
|
R8873:Fam124a
|
UTSW |
14 |
62,844,024 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9374:Fam124a
|
UTSW |
14 |
62,843,988 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9483:Fam124a
|
UTSW |
14 |
62,844,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9518:Fam124a
|
UTSW |
14 |
62,824,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9551:Fam124a
|
UTSW |
14 |
62,843,988 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9628:Fam124a
|
UTSW |
14 |
62,825,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Fam124a
|
UTSW |
14 |
62,824,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Fam124a
|
UTSW |
14 |
62,843,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Fam124a
|
UTSW |
14 |
62,843,857 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-11-20 |
Incidental Mutation