Incidental Mutation 'IGL01087:Fam120a'
ID |
52553 |
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 # |
IGL01087
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
49032695-49121493 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49055549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 713
(L713P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060805]
|
AlphaFold |
Q6A0A9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060805
AA Change: L713P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053877 Gene: ENSMUSG00000038014 AA Change: L713P
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
T |
6: 83,139,770 (GRCm39) |
|
probably null |
Het |
Abca6 |
C |
A |
11: 110,082,476 (GRCm39) |
A1166S |
probably benign |
Het |
Arhgdib |
C |
A |
6: 136,910,622 (GRCm39) |
K46N |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,971,209 (GRCm39) |
V2507D |
probably damaging |
Het |
B4galnt1 |
A |
T |
10: 127,002,060 (GRCm39) |
I63F |
probably damaging |
Het |
Bclaf1 |
A |
G |
10: 20,201,056 (GRCm39) |
D394G |
probably damaging |
Het |
Btbd10 |
T |
C |
7: 112,915,763 (GRCm39) |
D442G |
probably damaging |
Het |
Cd44 |
A |
T |
2: 102,652,607 (GRCm39) |
L492H |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Chsy1 |
T |
G |
7: 65,821,874 (GRCm39) |
V703G |
possibly damaging |
Het |
Clrn2 |
T |
C |
5: 45,621,311 (GRCm39) |
|
probably benign |
Het |
Crtc3 |
T |
C |
7: 80,248,487 (GRCm39) |
|
probably benign |
Het |
Cul1 |
A |
G |
6: 47,485,978 (GRCm39) |
T342A |
probably benign |
Het |
Dgki |
T |
C |
6: 36,989,846 (GRCm39) |
D631G |
probably damaging |
Het |
Eif3b |
T |
C |
5: 140,426,862 (GRCm39) |
I706T |
probably damaging |
Het |
I830077J02Rik |
C |
A |
3: 105,836,049 (GRCm39) |
|
probably null |
Het |
Jmjd8 |
A |
C |
17: 26,048,145 (GRCm39) |
|
probably benign |
Het |
Kmt5a |
T |
C |
5: 124,589,443 (GRCm39) |
|
probably benign |
Het |
Krt87 |
C |
A |
15: 101,329,706 (GRCm39) |
C486F |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,354,417 (GRCm39) |
N470K |
probably damaging |
Het |
Med1 |
C |
A |
11: 98,071,111 (GRCm39) |
D79Y |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,573,261 (GRCm39) |
S189P |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,697,361 (GRCm39) |
Y381N |
possibly damaging |
Het |
Nipbl |
C |
A |
15: 8,379,981 (GRCm39) |
S937I |
possibly damaging |
Het |
Nlrp4g |
A |
G |
9: 124,353,858 (GRCm38) |
|
noncoding transcript |
Het |
Nutm2 |
A |
G |
13: 50,623,665 (GRCm39) |
T121A |
probably damaging |
Het |
Opa1 |
C |
T |
16: 29,405,815 (GRCm39) |
P127S |
probably damaging |
Het |
Or2h1b |
C |
T |
17: 37,462,332 (GRCm39) |
C177Y |
probably damaging |
Het |
Pcdh15 |
A |
T |
10: 74,178,464 (GRCm39) |
I574F |
possibly damaging |
Het |
Pcnx1 |
G |
A |
12: 82,042,113 (GRCm39) |
|
probably benign |
Het |
Prex2 |
A |
G |
1: 11,138,328 (GRCm39) |
T136A |
probably benign |
Het |
Prph2 |
A |
G |
17: 47,222,085 (GRCm39) |
T155A |
probably damaging |
Het |
Rsl1d1 |
T |
C |
16: 11,012,539 (GRCm39) |
K296E |
possibly damaging |
Het |
Syne1 |
A |
T |
10: 5,375,708 (GRCm39) |
I128N |
probably damaging |
Het |
Tlk1 |
A |
T |
2: 70,582,660 (GRCm39) |
N156K |
possibly damaging |
Het |
Trem2 |
C |
T |
17: 48,658,956 (GRCm39) |
T222I |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,735,580 (GRCm39) |
F872L |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,783,349 (GRCm39) |
S3393T |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,172,669 (GRCm39) |
S304T |
probably benign |
Het |
Zc3h7a |
T |
C |
16: 10,971,046 (GRCm39) |
T328A |
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 |
|
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 |
|
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 |
2013-06-21 |