Incidental Mutation 'R4279:Fam120a'
ID |
322813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam120a
|
Ensembl Gene |
ENSMUSG00000038014 |
Gene Name |
family with sequence similarity 120, member A |
Synonyms |
|
MMRRC Submission |
041079-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4279 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49032695-49121493 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49042734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 889
(V889D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060805]
|
AlphaFold |
Q6A0A9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060805
AA Change: V889D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000053877 Gene: ENSMUSG00000038014 AA Change: V889D
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 |
|
Meta Mutation Damage Score |
0.1377 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
T |
A |
15: 96,269,637 (GRCm39) |
L1250Q |
probably damaging |
Het |
Ccdc73 |
A |
T |
2: 104,815,355 (GRCm39) |
N364Y |
possibly damaging |
Het |
Ccl25 |
T |
A |
8: 4,399,829 (GRCm39) |
L56Q |
probably damaging |
Het |
Ctnnd2 |
C |
A |
15: 30,905,966 (GRCm39) |
A871E |
probably damaging |
Het |
Cyp2b23 |
C |
T |
7: 26,365,452 (GRCm39) |
S461N |
possibly damaging |
Het |
Dgat2 |
C |
A |
7: 98,813,912 (GRCm39) |
G120V |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,369,207 (GRCm39) |
I768F |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,333,765 (GRCm39) |
E356G |
probably benign |
Het |
Fxyd5 |
C |
A |
7: 30,734,811 (GRCm39) |
D139Y |
probably null |
Het |
Gcnt2 |
T |
C |
13: 41,041,666 (GRCm39) |
V275A |
probably benign |
Het |
Gimap4 |
A |
G |
6: 48,667,511 (GRCm39) |
I89V |
probably benign |
Het |
Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
Kif13b |
G |
T |
14: 65,016,805 (GRCm39) |
A1324S |
probably damaging |
Het |
Klhl31 |
T |
C |
9: 77,563,121 (GRCm39) |
S629P |
unknown |
Het |
Lpar1 |
A |
G |
4: 58,487,115 (GRCm39) |
V52A |
possibly damaging |
Het |
Lrp5 |
A |
G |
19: 3,641,778 (GRCm39) |
S1395P |
possibly damaging |
Het |
Mogs |
T |
C |
6: 83,093,048 (GRCm39) |
L132P |
probably damaging |
Het |
Ncam1 |
C |
A |
9: 49,418,259 (GRCm39) |
|
probably benign |
Het |
Ndufs8 |
A |
T |
19: 3,961,014 (GRCm39) |
F88I |
probably damaging |
Het |
Nos2 |
T |
A |
11: 78,820,602 (GRCm39) |
L69Q |
probably benign |
Het |
Or51a6 |
T |
A |
7: 102,604,292 (GRCm39) |
Q179L |
probably benign |
Het |
Pls3 |
A |
T |
X: 74,846,138 (GRCm39) |
I192N |
probably benign |
Het |
Psmd6 |
T |
C |
14: 14,112,297 (GRCm38) |
N388S |
possibly damaging |
Het |
Rrbp1 |
T |
C |
2: 143,805,028 (GRCm39) |
T1046A |
probably benign |
Het |
Scn11a |
T |
C |
9: 119,583,428 (GRCm39) |
E1729G |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,692,953 (GRCm39) |
D191G |
possibly damaging |
Het |
Slc9a1 |
T |
C |
4: 133,139,400 (GRCm39) |
F206S |
probably benign |
Het |
Tmc5 |
A |
G |
7: 118,273,886 (GRCm39) |
*968W |
probably null |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Unc13a |
T |
C |
8: 72,119,311 (GRCm39) |
K9R |
probably damaging |
Het |
Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
Vmn1r119 |
T |
A |
7: 20,745,786 (GRCm39) |
M199L |
probably benign |
Het |
Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
Zfp365 |
A |
T |
10: 67,733,431 (GRCm39) |
F254I |
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 |
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 |
|
R5194:Fam120a
|
UTSW |
13 |
49,034,411 (GRCm39) |
missense |
probably benign |
|
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 |
PCR Primer
(F):5'- AAGGGTCTAGATGCTGGAGC -3'
(R):5'- GCCCTATTGAATGACTGCTAAGGG -3'
Sequencing Primer
(F):5'- GGTAATAATTACCGCCCTGG -3'
(R):5'- TATTGAATGACTGCTAAGGGAGGCTG -3'
|
Posted On |
2015-06-20 |