Incidental Mutation 'R2496:Fam120a'
ID |
251225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam120a
|
Ensembl Gene |
ENSMUSG00000038014 |
Gene Name |
family with sequence similarity 120, member A |
Synonyms |
|
MMRRC Submission |
040410-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2496 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
49032695-49121493 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 49121069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 79
(A79E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060805]
|
AlphaFold |
Q6A0A9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060805
AA Change: A79E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000053877 Gene: ENSMUSG00000038014 AA Change: A79E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180775
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
C |
7: 78,761,065 (GRCm39) |
W1926R |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,023,063 (GRCm39) |
T106A |
probably benign |
Het |
Baz1b |
G |
A |
5: 135,239,629 (GRCm39) |
R243Q |
probably damaging |
Het |
Cdhr3 |
A |
G |
12: 33,099,068 (GRCm39) |
Y508H |
probably benign |
Het |
Cyp2d9 |
T |
A |
15: 82,336,680 (GRCm39) |
W10R |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,013,858 (GRCm39) |
T1549A |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 31,070,705 (GRCm39) |
R4464W |
probably damaging |
Het |
Dpp4 |
G |
A |
2: 62,217,477 (GRCm39) |
T40M |
possibly damaging |
Het |
Dync1h1 |
A |
G |
12: 110,607,654 (GRCm39) |
H2723R |
possibly damaging |
Het |
E2f3 |
C |
T |
13: 30,095,289 (GRCm39) |
S333N |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,877,399 (GRCm39) |
S3405P |
probably benign |
Het |
Gaa |
T |
C |
11: 119,174,531 (GRCm39) |
S793P |
possibly damaging |
Het |
Galc |
A |
C |
12: 98,193,540 (GRCm39) |
F350V |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,955,916 (GRCm39) |
V391A |
possibly damaging |
Het |
Gm136 |
A |
G |
4: 34,746,541 (GRCm39) |
C157R |
probably damaging |
Het |
Gm3327 |
A |
C |
14: 44,363,720 (GRCm39) |
N108T |
unknown |
Het |
H2-M10.2 |
A |
G |
17: 36,596,771 (GRCm39) |
Y102H |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,490,972 (GRCm39) |
D4192E |
probably benign |
Het |
Hpse2 |
A |
C |
19: 43,001,482 (GRCm39) |
|
probably null |
Het |
Idh3a |
T |
C |
9: 54,510,633 (GRCm39) |
V362A |
probably benign |
Het |
Kdm7a |
A |
T |
6: 39,147,697 (GRCm39) |
|
probably null |
Het |
Krt6b |
A |
G |
15: 101,588,216 (GRCm39) |
V148A |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,439,394 (GRCm39) |
R1977H |
probably damaging |
Het |
Magi2 |
A |
T |
5: 19,883,750 (GRCm39) |
Y134F |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,455,914 (GRCm39) |
Y801C |
probably damaging |
Het |
Maml1 |
T |
C |
11: 50,149,371 (GRCm39) |
T790A |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,750,823 (GRCm39) |
Y843H |
probably damaging |
Het |
Mdfic |
A |
T |
6: 15,741,041 (GRCm39) |
H45L |
possibly damaging |
Het |
Mlx |
C |
T |
11: 100,979,080 (GRCm39) |
T87I |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,521,269 (GRCm39) |
I382K |
probably benign |
Het |
Mtf1 |
A |
G |
4: 124,732,697 (GRCm39) |
N585S |
probably benign |
Het |
Mylk2 |
C |
T |
2: 152,755,588 (GRCm39) |
P251S |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,499,165 (GRCm39) |
V155A |
probably benign |
Het |
Nox4 |
A |
T |
7: 86,955,958 (GRCm39) |
T157S |
probably benign |
Het |
Oas2 |
A |
T |
5: 120,886,682 (GRCm39) |
H161Q |
probably benign |
Het |
Obscn |
A |
T |
11: 58,994,268 (GRCm39) |
V1563E |
probably damaging |
Het |
Or2n1b |
T |
C |
17: 38,460,322 (GRCm39) |
V281A |
possibly damaging |
Het |
Or55b3 |
T |
C |
7: 102,126,354 (GRCm39) |
K241R |
probably damaging |
Het |
Or6c203 |
A |
C |
10: 129,009,966 (GRCm39) |
F308C |
probably benign |
Het |
Pcdhb11 |
T |
A |
18: 37,555,375 (GRCm39) |
I235N |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,443,522 (GRCm39) |
C1212* |
probably null |
Het |
Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
Rsph4a |
A |
T |
10: 33,784,094 (GRCm39) |
I239L |
possibly damaging |
Het |
Setx |
A |
G |
2: 29,034,813 (GRCm39) |
I433V |
probably benign |
Het |
Smyd4 |
T |
C |
11: 75,281,927 (GRCm39) |
S467P |
probably benign |
Het |
Snai2 |
A |
T |
16: 14,523,866 (GRCm39) |
H10L |
possibly damaging |
Het |
Snw1 |
T |
C |
12: 87,497,589 (GRCm39) |
I467V |
probably benign |
Het |
Stab1 |
A |
T |
14: 30,883,420 (GRCm39) |
C301S |
probably damaging |
Het |
Tax1bp1 |
T |
A |
6: 52,735,342 (GRCm39) |
|
probably null |
Het |
Tmem70 |
C |
A |
1: 16,735,575 (GRCm39) |
P15Q |
probably benign |
Het |
Tmem87a |
T |
C |
2: 120,224,859 (GRCm39) |
E134G |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,200,516 (GRCm39) |
|
probably benign |
Het |
Ugt2b37 |
C |
T |
5: 87,402,569 (GRCm39) |
V21M |
probably damaging |
Het |
Ugt2b38 |
T |
A |
5: 87,569,551 (GRCm39) |
I259F |
probably damaging |
Het |
Zfp804a |
T |
A |
2: 82,066,188 (GRCm39) |
L53Q |
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 |
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 |
R7978:Fam120a
|
UTSW |
13 |
49,055,750 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ATGCAGTGGGCCATACAGAC -3'
(R):5'- TACATCGAGAAGCACTGTCC -3'
Sequencing Primer
(F):5'- GGCAGGAACCAGACCTTG -3'
(R):5'- AGAAGCACTGTCCGAGCG -3'
|
Posted On |
2014-12-04 |