Incidental Mutation 'R8386:Fam120b'
| ID |
647176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam120b
|
| Ensembl Gene |
ENSMUSG00000014763 |
| Gene Name |
family with sequence similarity 120, member B |
| Synonyms |
4932442K08Rik, CCPG |
| MMRRC Submission |
067752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
15616464-15653843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 15643246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 675
(S675N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055352]
|
| AlphaFold |
Q6RI63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055352
AA Change: S675N
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000054420
Gene: ENSMUSG00000014763
AA Change: S675N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,021,518 (GRCm39) |
A1064D |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,226,048 (GRCm39) |
I1390T |
probably damaging |
Het |
| Aktip |
G |
A |
8: 91,857,674 (GRCm39) |
R13C |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,996,747 (GRCm39) |
I71F |
probably damaging |
Het |
| Casr |
T |
A |
16: 36,335,950 (GRCm39) |
I120F |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,073,029 (GRCm39) |
R544S |
probably damaging |
Het |
| Cse1l |
T |
C |
2: 166,761,604 (GRCm39) |
S53P |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,527,488 (GRCm39) |
S207P |
probably damaging |
Het |
| Fcna |
C |
T |
2: 25,516,027 (GRCm39) |
W163* |
probably null |
Het |
| Gast |
A |
G |
11: 100,227,691 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv6-14 |
T |
C |
6: 70,411,966 (GRCm39) |
Y106C |
probably damaging |
Het |
| Lin28b |
A |
G |
10: 45,345,140 (GRCm39) |
V62A |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,701,655 (GRCm39) |
S757T |
unknown |
Het |
| Ms4a15 |
A |
T |
19: 10,970,546 (GRCm39) |
C3S |
unknown |
Het |
| Muc5ac |
G |
A |
7: 141,361,371 (GRCm39) |
V1561I |
possibly damaging |
Het |
| Ndufb11b |
C |
T |
15: 81,864,830 (GRCm39) |
L24F |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5p70 |
TTTCTTCTTCT |
TTTCTTCT |
7: 107,994,555 (GRCm39) |
|
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,338 (GRCm39) |
D144G |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,282,319 (GRCm39) |
V149D |
unknown |
Het |
| Shcbp1 |
A |
C |
8: 4,817,951 (GRCm39) |
W115G |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,230 (GRCm39) |
K631M |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,832 (GRCm39) |
S168R |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,250 (GRCm39) |
N314K |
probably damaging |
Het |
| Syngap1 |
T |
A |
17: 27,179,465 (GRCm39) |
M755K |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,317,823 (GRCm39) |
D11G |
unknown |
Het |
| Trim80 |
A |
G |
11: 115,335,900 (GRCm39) |
D274G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,460,403 (GRCm39) |
T2555A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,678,483 (GRCm39) |
|
probably null |
Het |
| Wnt7a |
C |
T |
6: 91,343,270 (GRCm39) |
G204D |
probably damaging |
Het |
| Zfp420 |
A |
T |
7: 29,575,043 (GRCm39) |
Y421F |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,667,962 (GRCm39) |
H263R |
probably benign |
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 |
|
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 |
|
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'- TATTCAGGACTTTGCAAGCATCG -3'
(R):5'- AGTGAGATGGGCAGACCTTC -3'
Sequencing Primer
(F):5'- TTGCAAGCATCGACCCTTGAG -3'
(R):5'- GGCAGACCTTCTAGGCTCATTACAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation