Incidental Mutation 'IGL02901:Fam120b'
| ID |
363611 |
| 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 # |
IGL02901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
15616464-15653843 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 15627964 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
A |
T |
2: 131,403,524 (GRCm39) |
Y189N |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,792,245 (GRCm39) |
D1162G |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,439,482 (GRCm39) |
M637T |
probably benign |
Het |
| Arvcf |
G |
A |
16: 18,216,992 (GRCm39) |
A440T |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,532 (GRCm39) |
V51E |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,522,529 (GRCm39) |
V164E |
probably damaging |
Het |
| Cox6a2 |
A |
C |
7: 127,805,454 (GRCm39) |
L5R |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,483,696 (GRCm39) |
L849* |
probably null |
Het |
| Dclk1 |
A |
G |
3: 55,395,208 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
G |
6: 24,454,194 (GRCm39) |
L563P |
probably damaging |
Het |
| Itgb3 |
A |
T |
11: 104,528,772 (GRCm39) |
I300F |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,844,583 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,747,632 (GRCm39) |
I411T |
probably benign |
Het |
| Misp |
A |
T |
10: 79,662,771 (GRCm39) |
Y396F |
possibly damaging |
Het |
| Nhsl2 |
T |
A |
X: 101,122,849 (GRCm39) |
V884D |
probably benign |
Het |
| Nxf7 |
A |
T |
X: 134,487,984 (GRCm39) |
|
probably null |
Het |
| Or10al4 |
T |
A |
17: 38,037,311 (GRCm39) |
I132K |
probably damaging |
Het |
| Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
| Palld |
T |
A |
8: 62,330,029 (GRCm39) |
K283* |
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Proc |
T |
G |
18: 32,256,678 (GRCm39) |
T330P |
possibly damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,615 (GRCm39) |
D221G |
probably damaging |
Het |
| Prss55 |
T |
A |
14: 64,314,576 (GRCm39) |
N198I |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,959,138 (GRCm39) |
S10P |
probably benign |
Het |
| Sbk2 |
A |
G |
7: 4,960,289 (GRCm39) |
Y294H |
possibly damaging |
Het |
| Smyd1 |
A |
G |
6: 71,215,614 (GRCm39) |
V115A |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,649,207 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,787,347 (GRCm39) |
N751S |
probably damaging |
Het |
| Upk1a |
A |
T |
7: 30,303,204 (GRCm39) |
M241K |
possibly damaging |
Het |
| Vmn2r71 |
A |
C |
7: 85,268,470 (GRCm39) |
E224D |
probably benign |
Het |
| Vmn2r81 |
C |
T |
10: 79,106,564 (GRCm39) |
T514I |
probably damaging |
Het |
| Zkscan16 |
T |
C |
4: 58,946,283 (GRCm39) |
W53R |
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 |
|
IGL03380:Fam120b
|
APN |
17 |
15,623,396 (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 |
2015-12-18 |
Incidental Mutation