Incidental Mutation 'R7978:Fam120a'
| ID |
651043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam120a
|
| Ensembl Gene |
ENSMUSG00000038014 |
| Gene Name |
family with sequence similarity 120, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49032695-49121493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49055750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 646
(Y646C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060805]
|
| AlphaFold |
Q6A0A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060805
AA Change: Y646C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014
AA Change: Y646C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:XPGN
|
1 |
112 |
1e-15 |
BLAST |
|
low complexity region
|
348 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
897 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
986 |
N/A |
INTRINSIC |
|
low complexity region
|
996 |
1006 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1044 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,036,515 (GRCm39) |
I342N |
probably damaging |
Het |
| Alb |
A |
T |
5: 90,619,932 (GRCm39) |
N453I |
possibly damaging |
Het |
| Aox4 |
C |
A |
1: 58,274,366 (GRCm39) |
S384Y |
probably damaging |
Het |
| Ap1g1 |
C |
T |
8: 110,564,399 (GRCm39) |
R315* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,832,060 (GRCm39) |
Y741H |
probably damaging |
Het |
| Cacna2d2 |
C |
G |
9: 107,395,456 (GRCm39) |
L661V |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,216,921 (GRCm39) |
H64Q |
probably damaging |
Het |
| Ccdc93 |
C |
A |
1: 121,426,960 (GRCm39) |
N582K |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 109,921,835 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,963,342 (GRCm39) |
N78D |
probably damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,915,307 (GRCm39) |
V132A |
probably damaging |
Het |
| Cwc25 |
G |
A |
11: 97,644,044 (GRCm39) |
Q230* |
probably null |
Het |
| Dsel |
G |
A |
1: 111,787,449 (GRCm39) |
R1029* |
probably null |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
| Hltf |
T |
C |
3: 20,146,968 (GRCm39) |
W576R |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,359 (GRCm39) |
N1787S |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,897,313 (GRCm39) |
E904G |
probably benign |
Het |
| Igkv17-121 |
C |
T |
6: 68,013,806 (GRCm39) |
T2I |
unknown |
Het |
| Ino80 |
T |
G |
2: 119,269,874 (GRCm39) |
R590S |
possibly damaging |
Het |
| Intu |
T |
A |
3: 40,652,069 (GRCm39) |
I842N |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,024,913 (GRCm39) |
T1015S |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kcna10 |
A |
G |
3: 107,101,663 (GRCm39) |
E98G |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,780,837 (GRCm39) |
Y570N |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,564,676 (GRCm39) |
I923V |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,859,697 (GRCm39) |
D307G |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,083,458 (GRCm39) |
Y704H |
probably damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,392 (GRCm39) |
F244L |
probably benign |
Het |
| Or4c100 |
T |
A |
2: 88,356,014 (GRCm39) |
L29* |
probably null |
Het |
| Or4c58 |
A |
T |
2: 89,674,611 (GRCm39) |
C235* |
probably null |
Het |
| Or4f59 |
T |
C |
2: 111,872,523 (GRCm39) |
T285A |
possibly damaging |
Het |
| Pmel |
G |
A |
10: 128,551,819 (GRCm39) |
V218M |
probably damaging |
Het |
| Prkar2b |
T |
C |
12: 32,013,024 (GRCm39) |
H364R |
possibly damaging |
Het |
| Psd4 |
T |
C |
2: 24,294,867 (GRCm39) |
F809S |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,078,838 (GRCm39) |
S59P |
|
Het |
| Rgr |
A |
G |
14: 36,766,645 (GRCm39) |
F134L |
probably benign |
Het |
| Rspry1 |
G |
T |
8: 95,349,753 (GRCm39) |
R47L |
probably damaging |
Het |
| Scd3 |
G |
T |
19: 44,222,688 (GRCm39) |
E113* |
probably null |
Het |
| Slc22a12 |
G |
A |
19: 6,586,938 (GRCm39) |
A476V |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,792,878 (GRCm39) |
E560G |
unknown |
Het |
| Snx3 |
A |
G |
10: 42,378,346 (GRCm39) |
D7G |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tbc1d12 |
A |
G |
19: 38,905,285 (GRCm39) |
M667V |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,142,104 (GRCm39) |
V81E |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,966,583 (GRCm39) |
I395F |
probably damaging |
Het |
| Tes |
C |
A |
6: 17,096,322 (GRCm39) |
N103K |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,193,426 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,287,726 (GRCm39) |
N491S |
probably damaging |
Het |
| Tomt |
T |
C |
7: 101,549,554 (GRCm39) |
I245V |
probably damaging |
Het |
| Trbc1 |
T |
C |
6: 41,515,236 (GRCm39) |
L28P |
|
Het |
| Trp63 |
T |
C |
16: 25,639,436 (GRCm39) |
V208A |
unknown |
Het |
| Ttll8 |
G |
T |
15: 88,799,565 (GRCm39) |
N625K |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,132,135 (GRCm39) |
W786R |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,167,854 (GRCm39) |
I703F |
probably damaging |
Het |
|
| Other mutations in Fam120a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Fam120a
|
APN |
13 |
49,042,609 (GRCm39) |
missense |
probably benign |
|
|
IGL01087:Fam120a
|
APN |
13 |
49,055,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02052:Fam120a
|
APN |
13 |
49,087,421 (GRCm39) |
splice site |
probably benign |
|
|
IGL02409:Fam120a
|
APN |
13 |
49,120,835 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03172:Fam120a
|
APN |
13 |
49,063,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bumped
|
UTSW |
13 |
49,045,497 (GRCm39) |
missense |
probably benign |
0.07 |
|
Green_flash
|
UTSW |
13 |
49,045,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Martini
|
UTSW |
13 |
49,121,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sunset
|
UTSW |
13 |
49,063,726 (GRCm39) |
splice site |
probably null |
|
|
upended
|
UTSW |
13 |
49,051,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0036:Fam120a
|
UTSW |
13 |
49,042,740 (GRCm39) |
splice site |
probably benign |
|
|
R0042:Fam120a
|
UTSW |
13 |
49,087,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Fam120a
|
UTSW |
13 |
49,121,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Fam120a
|
UTSW |
13 |
49,045,416 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0899:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0900:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0987:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0989:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0990:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1080:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1121:Fam120a
|
UTSW |
13 |
49,063,913 (GRCm39) |
splice site |
probably null |
|
|
R1265:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1423:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1611:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1755:Fam120a
|
UTSW |
13 |
49,039,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1888:Fam120a
|
UTSW |
13 |
49,039,342 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1888:Fam120a
|
UTSW |
13 |
49,039,342 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2041:Fam120a
|
UTSW |
13 |
49,051,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2433:Fam120a
|
UTSW |
13 |
49,087,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Fam120a
|
UTSW |
13 |
49,121,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3122:Fam120a
|
UTSW |
13 |
49,045,562 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R4279:Fam120a
|
UTSW |
13 |
49,042,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4758:Fam120a
|
UTSW |
13 |
49,034,333 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4924:Fam120a
|
UTSW |
13 |
49,055,572 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5000:Fam120a
|
UTSW |
13 |
49,051,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5039:Fam120a
|
UTSW |
13 |
49,063,726 (GRCm39) |
splice site |
probably null |
|
|
R5194:Fam120a
|
UTSW |
13 |
49,034,411 (GRCm39) |
missense |
probably benign |
|
|
R5772:Fam120a
|
UTSW |
13 |
49,034,409 (GRCm39) |
missense |
probably benign |
|
|
R6765:Fam120a
|
UTSW |
13 |
49,045,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6820:Fam120a
|
UTSW |
13 |
49,034,468 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6833:Fam120a
|
UTSW |
13 |
49,087,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6895:Fam120a
|
UTSW |
13 |
49,045,497 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6946:Fam120a
|
UTSW |
13 |
49,034,496 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7032:Fam120a
|
UTSW |
13 |
49,102,589 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7081:Fam120a
|
UTSW |
13 |
49,063,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7289:Fam120a
|
UTSW |
13 |
49,045,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Fam120a
|
UTSW |
13 |
49,102,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8200:Fam120a
|
UTSW |
13 |
49,102,595 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8311:Fam120a
|
UTSW |
13 |
49,087,433 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0003:Fam120a
|
UTSW |
13 |
49,102,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTACTCACCGTAAGACGCAG -3'
(R):5'- CTGAGACATAGTAGCTTGCAGAGG -3'
Sequencing Primer
(F):5'- CACATTGGCAGGGTTGAGC -3'
(R):5'- TAGTAGCTTGCAGAGGGAAGAATGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation