Incidental Mutation 'R7616:Fam120b'
| ID |
588939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam120b
|
| Ensembl Gene |
ENSMUSG00000014763 |
| Gene Name |
family with sequence similarity 120, member B |
| Synonyms |
4932442K08Rik, CCPG |
| MMRRC Submission |
045716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
15616464-15653843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 15623098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 359
(S359A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055352]
|
| AlphaFold |
Q6RI63 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055352
AA Change: S359A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054420
Gene: ENSMUSG00000014763
AA Change: S359A
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
G |
9: 55,896,738 (GRCm39) |
F290S |
probably benign |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,123 (GRCm39) |
D358G |
probably damaging |
Het |
| A630089N07Rik |
T |
A |
16: 97,867,410 (GRCm39) |
Q184L |
probably damaging |
Het |
| Adam10 |
A |
G |
9: 70,629,993 (GRCm39) |
R142G |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,420,418 (GRCm39) |
T856A |
probably damaging |
Het |
| Angel1 |
A |
G |
12: 86,764,510 (GRCm39) |
S493P |
probably benign |
Het |
| Arid1b |
C |
G |
17: 5,045,661 (GRCm39) |
P150A |
unknown |
Het |
| Atp8b5 |
T |
A |
4: 43,370,823 (GRCm39) |
|
probably null |
Het |
| Cbfa2t3 |
T |
G |
8: 123,360,076 (GRCm39) |
Q525P |
possibly damaging |
Het |
| Clip4 |
T |
C |
17: 72,141,268 (GRCm39) |
Y541H |
probably benign |
Het |
| Cracr2a |
C |
T |
6: 127,585,660 (GRCm39) |
Q153* |
probably null |
Het |
| Dsp |
G |
T |
13: 38,375,458 (GRCm39) |
C1081F |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
| Etv1 |
T |
A |
12: 38,915,605 (GRCm39) |
M424K |
probably damaging |
Het |
| Ffar2 |
A |
G |
7: 30,519,357 (GRCm39) |
L61P |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,765,409 (GRCm39) |
D879V |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,951 (GRCm39) |
A246E |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,281,633 (GRCm39) |
P1207Q |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,328,168 (GRCm39) |
Y400F |
probably damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,022,574 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,574,161 (GRCm39) |
Y746* |
probably null |
Het |
| Mylk |
T |
C |
16: 34,699,927 (GRCm39) |
F430S |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,937,759 (GRCm38) |
C826Y |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,275,092 (GRCm39) |
F51Y |
probably damaging |
Het |
| Or10ag55-ps1 |
T |
C |
2: 87,115,617 (GRCm39) |
*328Q |
probably null |
Het |
| Phf2 |
T |
A |
13: 48,961,083 (GRCm39) |
Y869F |
unknown |
Het |
| Psmb7 |
T |
C |
2: 38,523,976 (GRCm39) |
Y133C |
possibly damaging |
Het |
| Ptcd2 |
G |
A |
13: 99,481,207 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,721,674 (GRCm39) |
N55I |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,053,037 (GRCm39) |
K73* |
probably null |
Het |
| Sult2a5 |
G |
A |
7: 13,404,607 (GRCm39) |
M281I |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,794,084 (GRCm39) |
M647K |
possibly damaging |
Het |
| Trim66 |
T |
A |
7: 109,082,956 (GRCm39) |
D162V |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,091,381 (GRCm39) |
I235N |
probably damaging |
Het |
| Vmn1r175 |
T |
A |
7: 23,508,031 (GRCm39) |
I199F |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,404,272 (GRCm39) |
S59P |
probably damaging |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Zfand2a |
A |
T |
5: 139,464,321 (GRCm39) |
N61K |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGGGCCAAACAAAGCTC -3'
(R):5'- GAGTGCTTCTAGGTTAAATTCAGTG -3'
Sequencing Primer
(F):5'- GCCAAACAAAGCTCTCTTTTATAAAG -3'
(R):5'- TGTCTATTCCTGAAGGTAATTTTTGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation