Incidental Mutation 'IGL03172:Fam120a'
| ID |
411872 |
| 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 # |
IGL03172
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49032695-49121493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49063812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 608
(Y608C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060805]
|
| AlphaFold |
Q6A0A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060805
AA Change: Y608C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014
AA Change: Y608C
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,003 (GRCm39) |
H528R |
probably damaging |
Het |
| A530053G22Rik |
A |
T |
6: 60,379,047 (GRCm39) |
|
noncoding transcript |
Het |
| Aagab |
A |
G |
9: 63,542,676 (GRCm39) |
|
probably benign |
Het |
| Aknad1 |
A |
T |
3: 108,688,519 (GRCm39) |
I616F |
possibly damaging |
Het |
| Ap2a1 |
A |
C |
7: 44,553,479 (GRCm39) |
D629E |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,149,220 (GRCm39) |
Q1425K |
probably damaging |
Het |
| Asf1b |
A |
C |
8: 84,694,542 (GRCm39) |
H102P |
probably benign |
Het |
| Celf6 |
C |
T |
9: 59,489,565 (GRCm39) |
A90V |
probably damaging |
Het |
| Chrna2 |
A |
T |
14: 66,379,688 (GRCm39) |
Q9L |
probably benign |
Het |
| Csnk1g3 |
A |
G |
18: 54,086,356 (GRCm39) |
I420M |
possibly damaging |
Het |
| Eml3 |
T |
C |
19: 8,916,543 (GRCm39) |
|
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,382,456 (GRCm39) |
N508S |
possibly damaging |
Het |
| Fbn1 |
A |
C |
2: 125,162,888 (GRCm39) |
C2133G |
possibly damaging |
Het |
| Fhl5 |
A |
G |
4: 25,211,309 (GRCm39) |
F128L |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,680,421 (GRCm39) |
N428S |
probably damaging |
Het |
| Fxr2 |
T |
C |
11: 69,540,665 (GRCm39) |
|
probably null |
Het |
| Gabrp |
T |
C |
11: 33,504,388 (GRCm39) |
Y309C |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,182,168 (GRCm39) |
I50V |
probably benign |
Het |
| Ifi203 |
C |
T |
1: 173,764,158 (GRCm39) |
G105R |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,596,190 (GRCm39) |
Q201L |
possibly damaging |
Het |
| Jade2 |
T |
C |
11: 51,716,198 (GRCm39) |
T336A |
probably damaging |
Het |
| Kdm4b |
A |
G |
17: 56,708,649 (GRCm39) |
D996G |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,903,797 (GRCm39) |
I557T |
probably benign |
Het |
| Memo1 |
A |
C |
17: 74,551,996 (GRCm39) |
L100R |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,818 (GRCm39) |
N225S |
probably damaging |
Het |
| Ndufa2 |
A |
G |
18: 36,877,278 (GRCm39) |
|
probably null |
Het |
| Or2g7 |
G |
T |
17: 38,378,275 (GRCm39) |
C71F |
probably damaging |
Het |
| Or7g19 |
G |
A |
9: 18,856,757 (GRCm39) |
S271N |
probably benign |
Het |
| Pak5 |
G |
T |
2: 135,940,310 (GRCm39) |
Y501* |
probably null |
Het |
| Pot1b |
A |
T |
17: 56,002,206 (GRCm39) |
F123I |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,700,786 (GRCm39) |
V1761A |
probably benign |
Het |
| Samd3 |
T |
A |
10: 26,106,064 (GRCm39) |
V14E |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,697,598 (GRCm39) |
A605T |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,642 (GRCm39) |
D333V |
probably damaging |
Het |
| Spata4 |
A |
G |
8: 55,055,440 (GRCm39) |
I147V |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn2r73 |
G |
A |
7: 85,507,495 (GRCm39) |
H606Y |
probably benign |
Het |
| Vsig8 |
A |
G |
1: 172,387,916 (GRCm39) |
N2S |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,114,515 (GRCm39) |
I667R |
probably damaging |
Het |
| Yif1b |
A |
G |
7: 28,937,873 (GRCm39) |
|
probably null |
Het |
| Zbtb5 |
A |
T |
4: 44,994,003 (GRCm39) |
H460Q |
possibly damaging |
Het |
| Zdhhc21 |
G |
A |
4: 82,724,564 (GRCm39) |
|
probably benign |
Het |
| Zfp944 |
A |
T |
17: 22,559,018 (GRCm39) |
H76Q |
probably damaging |
Het |
| Zkscan1 |
A |
G |
5: 138,092,264 (GRCm39) |
Q146R |
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 |
|
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 |
2016-08-02 |
Incidental Mutation