Incidental Mutation 'R5194:Fam120a'
ID |
400006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam120a
|
Ensembl Gene |
ENSMUSG00000038014 |
Gene Name |
family with sequence similarity 120, member A |
Synonyms |
|
MMRRC Submission |
042770-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5194 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
49032695-49121493 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49034411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1067
(V1067A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060805]
|
AlphaFold |
Q6A0A9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060805
AA Change: V1067A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053877 Gene: ENSMUSG00000038014 AA Change: V1067A
Domain | Start | End | E-Value | Type |
Blast:XPGN
|
1 |
112 |
1e-15 |
BLAST |
low complexity region
|
348 |
361 |
N/A |
INTRINSIC |
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
low complexity region
|
852 |
866 |
N/A |
INTRINSIC |
low complexity region
|
881 |
897 |
N/A |
INTRINSIC |
low complexity region
|
959 |
966 |
N/A |
INTRINSIC |
low complexity region
|
972 |
986 |
N/A |
INTRINSIC |
low complexity region
|
996 |
1006 |
N/A |
INTRINSIC |
low complexity region
|
1026 |
1044 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
C |
17: 48,348,059 (GRCm39) |
N82D |
probably benign |
Het |
Aadacl4fm2 |
A |
G |
4: 144,281,652 (GRCm39) |
V380A |
probably benign |
Het |
Acadm |
C |
T |
3: 153,638,755 (GRCm39) |
R206H |
possibly damaging |
Het |
Acly |
T |
A |
11: 100,414,372 (GRCm39) |
Y18F |
probably benign |
Het |
Acnat2 |
G |
T |
4: 49,380,452 (GRCm39) |
Q291K |
probably benign |
Het |
Agtpbp1 |
T |
C |
13: 59,648,453 (GRCm39) |
I456V |
probably benign |
Het |
Ankrd7 |
A |
G |
6: 18,868,076 (GRCm39) |
N114S |
possibly damaging |
Het |
Arfgef1 |
A |
T |
1: 10,275,132 (GRCm39) |
L307I |
probably benign |
Het |
Arhgef2 |
A |
T |
3: 88,542,956 (GRCm39) |
I383F |
probably damaging |
Het |
Cbs |
C |
T |
17: 31,843,198 (GRCm39) |
|
probably null |
Het |
Cep135 |
T |
C |
5: 76,763,624 (GRCm39) |
V538A |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,532,936 (GRCm39) |
E254G |
probably damaging |
Het |
Drc7 |
T |
C |
8: 95,788,345 (GRCm39) |
V236A |
probably benign |
Het |
Dtna |
C |
T |
18: 23,723,302 (GRCm39) |
Q169* |
probably null |
Het |
Egfem1 |
G |
A |
3: 29,411,345 (GRCm39) |
|
probably null |
Het |
Eif2ak3 |
T |
C |
6: 70,835,462 (GRCm39) |
S130P |
possibly damaging |
Het |
Ewsr1 |
T |
C |
11: 5,032,355 (GRCm39) |
N297S |
unknown |
Het |
F13a1 |
T |
G |
13: 37,156,037 (GRCm39) |
D192A |
probably damaging |
Het |
Gm17490 |
T |
C |
2: 11,631,062 (GRCm39) |
Y5C |
unknown |
Het |
Gm57859 |
T |
C |
11: 113,579,654 (GRCm39) |
S350P |
possibly damaging |
Het |
Gm8587 |
C |
T |
12: 88,056,556 (GRCm39) |
|
noncoding transcript |
Het |
H2-Ab1 |
C |
T |
17: 34,488,352 (GRCm39) |
|
probably benign |
Het |
Hoxd12 |
T |
C |
2: 74,505,447 (GRCm39) |
L6P |
probably damaging |
Het |
Ifi204 |
C |
T |
1: 173,576,910 (GRCm39) |
D564N |
possibly damaging |
Het |
Irak2 |
T |
C |
6: 113,667,751 (GRCm39) |
V444A |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrba |
A |
C |
3: 86,235,526 (GRCm39) |
N877H |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,079,495 (GRCm39) |
I388V |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,801,733 (GRCm39) |
A1286V |
probably benign |
Het |
Myt1l |
A |
C |
12: 29,861,647 (GRCm39) |
D143A |
unknown |
Het |
Ngfr |
T |
C |
11: 95,471,808 (GRCm39) |
N63S |
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,352,426 (GRCm39) |
H56Q |
probably benign |
Het |
Or4c3 |
T |
A |
2: 89,851,870 (GRCm39) |
Y180F |
probably damaging |
Het |
Or51a7 |
A |
G |
7: 102,615,071 (GRCm39) |
I255V |
probably benign |
Het |
Or6c70 |
C |
T |
10: 129,709,967 (GRCm39) |
V220I |
probably benign |
Het |
Or6z6 |
A |
G |
7: 6,491,519 (GRCm39) |
L118P |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,811,858 (GRCm39) |
S390P |
probably benign |
Het |
Pcdhga4 |
A |
C |
18: 37,820,794 (GRCm39) |
Q781P |
probably benign |
Het |
Phip |
G |
A |
9: 82,790,915 (GRCm39) |
S677F |
probably benign |
Het |
Ptpdc1 |
C |
A |
13: 48,740,265 (GRCm39) |
V389F |
possibly damaging |
Het |
Rab2a |
T |
A |
4: 8,604,381 (GRCm39) |
I161N |
probably benign |
Het |
Rnf113a2 |
T |
A |
12: 84,464,111 (GRCm39) |
M1K |
probably null |
Het |
Schip1 |
T |
C |
3: 68,402,205 (GRCm39) |
V122A |
probably benign |
Het |
Sdr16c5 |
C |
A |
4: 4,006,663 (GRCm39) |
A210S |
probably benign |
Het |
Sh3bp1 |
A |
G |
15: 78,787,301 (GRCm39) |
K83E |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,166,012 (GRCm39) |
S1541G |
possibly damaging |
Het |
Slc22a21 |
T |
C |
11: 53,870,673 (GRCm39) |
Y4C |
probably damaging |
Het |
Smco1 |
C |
T |
16: 32,092,592 (GRCm39) |
H88Y |
probably damaging |
Het |
Tll2 |
T |
C |
19: 41,084,336 (GRCm39) |
D697G |
probably damaging |
Het |
Trim34a |
A |
G |
7: 103,910,200 (GRCm39) |
N334S |
possibly damaging |
Het |
Ubqln1 |
A |
G |
13: 58,346,847 (GRCm39) |
I64T |
probably benign |
Het |
Vstm2b |
T |
A |
7: 40,551,912 (GRCm39) |
|
probably null |
Het |
Wdr17 |
A |
G |
8: 55,140,639 (GRCm39) |
F238L |
probably damaging |
Het |
Wiz |
T |
C |
17: 32,596,822 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,579,434 (GRCm39) |
S560G |
probably benign |
Het |
|
Other mutations in Fam120a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00785:Fam120a
|
APN |
13 |
49,042,609 (GRCm39) |
missense |
probably benign |
|
IGL01087:Fam120a
|
APN |
13 |
49,055,549 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02052:Fam120a
|
APN |
13 |
49,087,421 (GRCm39) |
splice site |
probably benign |
|
IGL02409:Fam120a
|
APN |
13 |
49,120,835 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03172:Fam120a
|
APN |
13 |
49,063,812 (GRCm39) |
missense |
probably damaging |
1.00 |
bumped
|
UTSW |
13 |
49,045,497 (GRCm39) |
missense |
probably benign |
0.07 |
Green_flash
|
UTSW |
13 |
49,045,440 (GRCm39) |
missense |
probably damaging |
1.00 |
Martini
|
UTSW |
13 |
49,121,114 (GRCm39) |
missense |
probably damaging |
1.00 |
Sunset
|
UTSW |
13 |
49,063,726 (GRCm39) |
splice site |
probably null |
|
upended
|
UTSW |
13 |
49,051,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R0036:Fam120a
|
UTSW |
13 |
49,042,740 (GRCm39) |
splice site |
probably benign |
|
R0042:Fam120a
|
UTSW |
13 |
49,087,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R0689:Fam120a
|
UTSW |
13 |
49,121,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R0741:Fam120a
|
UTSW |
13 |
49,045,416 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0899:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0900:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0987:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0989:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0990:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1080:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1121:Fam120a
|
UTSW |
13 |
49,063,913 (GRCm39) |
splice site |
probably null |
|
R1265:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1423:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1611:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1755:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1888:Fam120a
|
UTSW |
13 |
49,039,342 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1888:Fam120a
|
UTSW |
13 |
49,039,342 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2041:Fam120a
|
UTSW |
13 |
49,051,243 (GRCm39) |
missense |
probably benign |
0.01 |
R2433:Fam120a
|
UTSW |
13 |
49,087,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R2496:Fam120a
|
UTSW |
13 |
49,121,069 (GRCm39) |
missense |
probably damaging |
0.99 |
R3122:Fam120a
|
UTSW |
13 |
49,045,562 (GRCm39) |
missense |
possibly damaging |
0.45 |
R4279:Fam120a
|
UTSW |
13 |
49,042,734 (GRCm39) |
missense |
probably benign |
0.00 |
R4758:Fam120a
|
UTSW |
13 |
49,034,333 (GRCm39) |
missense |
probably benign |
0.02 |
R4924:Fam120a
|
UTSW |
13 |
49,055,572 (GRCm39) |
missense |
probably benign |
0.04 |
R5000:Fam120a
|
UTSW |
13 |
49,051,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R5039:Fam120a
|
UTSW |
13 |
49,063,726 (GRCm39) |
splice site |
probably null |
|
R5772:Fam120a
|
UTSW |
13 |
49,034,409 (GRCm39) |
missense |
probably benign |
|
R6765:Fam120a
|
UTSW |
13 |
49,045,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R6820:Fam120a
|
UTSW |
13 |
49,034,468 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6833:Fam120a
|
UTSW |
13 |
49,087,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R6895:Fam120a
|
UTSW |
13 |
49,045,497 (GRCm39) |
missense |
probably benign |
0.07 |
R6946:Fam120a
|
UTSW |
13 |
49,034,496 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7032:Fam120a
|
UTSW |
13 |
49,102,589 (GRCm39) |
missense |
probably benign |
0.34 |
R7081:Fam120a
|
UTSW |
13 |
49,063,801 (GRCm39) |
missense |
probably damaging |
0.98 |
R7289:Fam120a
|
UTSW |
13 |
49,045,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R7503:Fam120a
|
UTSW |
13 |
49,102,723 (GRCm39) |
missense |
probably benign |
0.00 |
R7978:Fam120a
|
UTSW |
13 |
49,055,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R8200:Fam120a
|
UTSW |
13 |
49,102,595 (GRCm39) |
missense |
probably damaging |
0.97 |
R8311:Fam120a
|
UTSW |
13 |
49,087,433 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0003:Fam120a
|
UTSW |
13 |
49,102,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2016-07-06 |