Incidental Mutation 'IGL02395:Fam120b'
ID |
294315 |
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 # |
IGL02395
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
15616464-15653843 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15622777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 252
(S252P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055352]
|
AlphaFold |
Q6RI63 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055352
AA Change: S252P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054420 Gene: ENSMUSG00000014763 AA Change: S252P
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,617,496 (GRCm39) |
C540S |
probably damaging |
Het |
Cdk5 |
A |
G |
5: 24,624,635 (GRCm39) |
V252A |
possibly damaging |
Het |
Ddi2 |
C |
T |
4: 141,422,725 (GRCm39) |
R329Q |
possibly damaging |
Het |
Dennd2c |
T |
A |
3: 103,065,081 (GRCm39) |
F678I |
probably benign |
Het |
Ect2 |
T |
C |
3: 27,204,255 (GRCm39) |
D18G |
probably damaging |
Het |
Efcab11 |
C |
A |
12: 99,820,868 (GRCm39) |
|
probably null |
Het |
Eri2 |
T |
C |
7: 119,387,033 (GRCm39) |
E162G |
probably damaging |
Het |
Filip1 |
G |
A |
9: 79,805,692 (GRCm39) |
P21S |
probably benign |
Het |
Kmt5b |
T |
A |
19: 3,864,887 (GRCm39) |
D627E |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,385,833 (GRCm39) |
D254G |
probably benign |
Het |
Man1a2 |
T |
C |
3: 100,551,853 (GRCm39) |
|
probably null |
Het |
Mapk15 |
T |
C |
15: 75,870,019 (GRCm39) |
S380P |
probably benign |
Het |
Mrpl48 |
G |
T |
7: 100,195,551 (GRCm39) |
|
probably benign |
Het |
Nme8 |
T |
A |
13: 19,862,078 (GRCm39) |
I184L |
possibly damaging |
Het |
Nrk |
A |
G |
X: 137,876,935 (GRCm39) |
E712G |
probably damaging |
Het |
Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
Or4k6 |
C |
A |
14: 50,475,886 (GRCm39) |
G152V |
probably damaging |
Het |
Or5m5 |
A |
G |
2: 85,814,426 (GRCm39) |
T81A |
possibly damaging |
Het |
Or6z6 |
C |
T |
7: 6,491,802 (GRCm39) |
V17M |
possibly damaging |
Het |
Plekho1 |
A |
T |
3: 95,902,876 (GRCm39) |
Y36* |
probably null |
Het |
Slco1a5 |
T |
A |
6: 142,221,213 (GRCm39) |
H11L |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,471,756 (GRCm39) |
M466K |
possibly damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Tnfrsf22 |
A |
T |
7: 143,197,053 (GRCm39) |
N95K |
probably damaging |
Het |
Vmn1r90 |
T |
C |
7: 14,295,822 (GRCm39) |
Y92C |
probably damaging |
Het |
Zc2hc1a |
T |
A |
3: 7,593,684 (GRCm39) |
L214* |
probably null |
Het |
Zcchc17 |
C |
A |
4: 130,230,920 (GRCm39) |
V90F |
probably damaging |
Het |
Zcchc7 |
T |
C |
4: 44,761,868 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
T |
C |
14: 25,657,187 (GRCm39) |
V821A |
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 |
IGL02901:Fam120b
|
APN |
17 |
15,627,964 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |