Incidental Mutation 'IGL02409:Fam120a'
| ID |
292225 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam120a
|
| Ensembl Gene |
ENSMUSG00000038014 |
| Gene Name |
family with sequence similarity 120, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02409
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49032695-49121493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49120835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 157
(V157A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060805]
|
| AlphaFold |
Q6A0A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060805
AA Change: V157A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014
AA Change: V157A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180775
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp4 |
T |
A |
18: 15,532,782 (GRCm39) |
M104L |
probably benign |
Het |
| Cdkn1a |
T |
C |
17: 29,317,428 (GRCm39) |
V16A |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,321,271 (GRCm39) |
V514F |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,875 (GRCm39) |
N120I |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,226,706 (GRCm39) |
N2794S |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,837,793 (GRCm39) |
T281A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,451,204 (GRCm39) |
N840K |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,621,088 (GRCm39) |
N540S |
possibly damaging |
Het |
| Elavl1 |
A |
T |
8: 4,339,838 (GRCm39) |
I248N |
possibly damaging |
Het |
| Fcrl2 |
G |
A |
3: 87,160,030 (GRCm39) |
P408L |
probably benign |
Het |
| Grin2b |
T |
A |
6: 136,020,906 (GRCm39) |
M132L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,870,217 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
G |
2: 41,335,208 (GRCm39) |
K778T |
possibly damaging |
Het |
| Mapk10 |
T |
A |
5: 103,076,096 (GRCm39) |
E389D |
possibly damaging |
Het |
| Ms4a7 |
G |
T |
19: 11,301,807 (GRCm39) |
Y62* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,075 (GRCm39) |
T2674A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,368,494 (GRCm39) |
L2613P |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,384,337 (GRCm39) |
Y266F |
probably damaging |
Het |
| Or10a3m |
A |
G |
7: 108,313,366 (GRCm39) |
I269V |
probably benign |
Het |
| Or14j6 |
T |
C |
17: 38,214,679 (GRCm39) |
Y81H |
probably damaging |
Het |
| Or1j14 |
T |
A |
2: 36,418,165 (GRCm39) |
V247E |
probably damaging |
Het |
| Or4c110 |
C |
T |
2: 88,832,254 (GRCm39) |
C126Y |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,792,597 (GRCm39) |
I1428N |
probably benign |
Het |
| Ppil4 |
T |
C |
10: 7,674,328 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,697,144 (GRCm39) |
V547A |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,701,989 (GRCm39) |
K155R |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,884,938 (GRCm39) |
D234G |
possibly damaging |
Het |
| Sult2a4 |
C |
T |
7: 13,718,844 (GRCm39) |
W133* |
probably null |
Het |
| Tbc1d2b |
C |
T |
9: 90,104,405 (GRCm39) |
S579N |
probably benign |
Het |
| Tdrkh |
T |
A |
3: 94,337,919 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
A |
T |
17: 81,340,117 (GRCm39) |
F377L |
probably damaging |
Het |
| Tmem132d |
T |
C |
5: 127,861,952 (GRCm39) |
D723G |
probably damaging |
Het |
| Tnfrsf23 |
A |
T |
7: 143,222,308 (GRCm39) |
L168Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,784,974 (GRCm39) |
T818A |
unknown |
Het |
| Uox |
A |
T |
3: 146,330,381 (GRCm39) |
D130V |
probably benign |
Het |
| Vmn2r45 |
T |
C |
7: 8,488,727 (GRCm39) |
Y101C |
probably benign |
Het |
| Wdr1 |
C |
T |
5: 38,688,453 (GRCm39) |
D161N |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation