Incidental Mutation 'IGL03380:Fam120b'
| ID |
420671 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam120b
|
| Ensembl Gene |
ENSMUSG00000014763 |
| Gene Name |
family with sequence similarity 120, member B |
| Synonyms |
4932442K08Rik, CCPG |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03380
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
15616464-15653843 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 15623396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055352]
|
| AlphaFold |
Q6RI63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055352
|
| SMART Domains |
Protein: ENSMUSP00000054420
Gene: ENSMUSG00000014763
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:XPGN
|
1 |
111 |
7e-46 |
BLAST |
|
SCOP:d1a77_2
|
21 |
185 |
6e-8 |
SMART |
|
internal_repeat_1
|
324 |
364 |
9.23e-10 |
PROSPERO |
|
internal_repeat_1
|
372 |
412 |
9.23e-10 |
PROSPERO |
|
low complexity region
|
650 |
664 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231318
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
| Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
| C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
| Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
| Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
| Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
| Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
| Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
| Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
| Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
| Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
| Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
| Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
| Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
| Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
| Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
| Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
| Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
| Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably damaging |
Het |
|
| Other mutations in Fam120b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Fam120b
|
APN |
17 |
15,622,857 (GRCm39) |
nonsense |
probably null |
|
|
IGL01874:Fam120b
|
APN |
17 |
15,623,301 (GRCm39) |
nonsense |
probably null |
|
|
IGL02111:Fam120b
|
APN |
17 |
15,622,847 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02395:Fam120b
|
APN |
17 |
15,622,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Fam120b
|
APN |
17 |
15,627,964 (GRCm39) |
splice site |
probably benign |
|
|
R0139:Fam120b
|
UTSW |
17 |
15,646,446 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Fam120b
|
UTSW |
17 |
15,643,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Fam120b
|
UTSW |
17 |
15,643,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Fam120b
|
UTSW |
17 |
15,637,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:Fam120b
|
UTSW |
17 |
15,646,550 (GRCm39) |
splice site |
probably benign |
|
|
R0551:Fam120b
|
UTSW |
17 |
15,651,905 (GRCm39) |
splice site |
probably benign |
|
|
R0584:Fam120b
|
UTSW |
17 |
15,622,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Fam120b
|
UTSW |
17 |
15,623,189 (GRCm39) |
missense |
probably benign |
|
|
R1606:Fam120b
|
UTSW |
17 |
15,622,073 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1638:Fam120b
|
UTSW |
17 |
15,622,759 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2022:Fam120b
|
UTSW |
17 |
15,644,638 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3411:Fam120b
|
UTSW |
17 |
15,651,897 (GRCm39) |
splice site |
probably benign |
|
|
R4422:Fam120b
|
UTSW |
17 |
15,622,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Fam120b
|
UTSW |
17 |
15,643,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Fam120b
|
UTSW |
17 |
15,622,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Fam120b
|
UTSW |
17 |
15,623,294 (GRCm39) |
missense |
probably benign |
|
|
R5400:Fam120b
|
UTSW |
17 |
15,623,388 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5418:Fam120b
|
UTSW |
17 |
15,622,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5632:Fam120b
|
UTSW |
17 |
15,623,344 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5878:Fam120b
|
UTSW |
17 |
15,622,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Fam120b
|
UTSW |
17 |
15,622,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Fam120b
|
UTSW |
17 |
15,622,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6846:Fam120b
|
UTSW |
17 |
15,635,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6929:Fam120b
|
UTSW |
17 |
15,643,290 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7356:Fam120b
|
UTSW |
17 |
15,627,958 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7616:Fam120b
|
UTSW |
17 |
15,623,098 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7848:Fam120b
|
UTSW |
17 |
15,626,036 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8386:Fam120b
|
UTSW |
17 |
15,643,246 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8782:Fam120b
|
UTSW |
17 |
15,622,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9364:Fam120b
|
UTSW |
17 |
15,626,020 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9554:Fam120b
|
UTSW |
17 |
15,626,020 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2016-08-02 |
Incidental Mutation