Incidental Mutation 'R2041:Fam120a'
| ID |
224973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam120a
|
| Ensembl Gene |
ENSMUSG00000038014 |
| Gene Name |
family with sequence similarity 120, member A |
| Synonyms |
|
| MMRRC Submission |
040048-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2041 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49032695-49121493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 49051243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 721
(V721L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060805]
|
| AlphaFold |
Q6A0A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060805
AA Change: V721L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014
AA Change: V721L
| 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 |
|
| Meta Mutation Damage Score |
0.0579 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,982,211 (GRCm39) |
D265E |
probably damaging |
Het |
| 2610021A01Rik |
A |
G |
7: 41,275,403 (GRCm39) |
R369G |
possibly damaging |
Het |
| Actr3b |
T |
C |
5: 25,965,128 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
A |
T |
15: 11,215,821 (GRCm39) |
M281L |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
| Akap12 |
C |
T |
10: 4,306,489 (GRCm39) |
P1100S |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,088,517 (GRCm39) |
H40L |
possibly damaging |
Het |
| Anks1 |
T |
A |
17: 28,227,388 (GRCm39) |
F659L |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,656,508 (GRCm39) |
R1506L |
probably benign |
Het |
| Bicd2 |
A |
G |
13: 49,495,252 (GRCm39) |
T36A |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,601,827 (GRCm39) |
L448Q |
probably damaging |
Het |
| Ccdc17 |
T |
G |
4: 116,456,789 (GRCm39) |
N497K |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,996,530 (GRCm39) |
I164T |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,411,765 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
T |
A |
17: 58,505,984 (GRCm39) |
D669E |
probably benign |
Het |
| Cpsf6 |
A |
G |
10: 117,195,033 (GRCm39) |
I482T |
probably damaging |
Het |
| Csf3 |
C |
T |
11: 98,592,483 (GRCm39) |
S65L |
possibly damaging |
Het |
| Dlc1 |
A |
G |
8: 37,049,922 (GRCm39) |
Y1049H |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,050,422 (GRCm39) |
D3048G |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,832,617 (GRCm39) |
|
probably benign |
Het |
| Epb41l4b |
T |
C |
4: 57,084,070 (GRCm39) |
K195R |
probably damaging |
Het |
| Epn1 |
T |
C |
7: 5,086,874 (GRCm39) |
S41P |
probably damaging |
Het |
| Fchsd1 |
T |
A |
18: 38,100,729 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
G |
A |
15: 58,430,155 (GRCm39) |
G194D |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
C |
15: 6,674,268 (GRCm39) |
T635P |
possibly damaging |
Het |
| Gpr153 |
A |
G |
4: 152,367,810 (GRCm39) |
S554G |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,622,347 (GRCm39) |
F459L |
probably damaging |
Het |
| H60c |
C |
T |
10: 3,209,972 (GRCm39) |
G105D |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,433,148 (GRCm39) |
M528K |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,945,987 (GRCm39) |
D790V |
probably damaging |
Het |
| Mfsd13b |
T |
C |
7: 120,591,139 (GRCm39) |
|
probably benign |
Het |
| Mis12 |
T |
A |
11: 70,916,132 (GRCm39) |
I55N |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,175,399 (GRCm39) |
Y103H |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Ndst3 |
C |
A |
3: 123,465,864 (GRCm39) |
G36V |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,149,611 (GRCm39) |
M406K |
probably damaging |
Het |
| Or4p18 |
T |
C |
2: 88,232,568 (GRCm39) |
T237A |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,170 (GRCm39) |
V156E |
probably damaging |
Het |
| Or5b106 |
A |
T |
19: 13,124,041 (GRCm39) |
|
probably benign |
Het |
| Or7g32 |
A |
T |
9: 19,408,131 (GRCm39) |
D29V |
probably benign |
Het |
| Or9m1 |
T |
C |
2: 87,733,141 (GRCm39) |
N293S |
probably damaging |
Het |
| Pars2 |
A |
G |
4: 106,510,814 (GRCm39) |
T199A |
probably damaging |
Het |
| Plcb4 |
C |
T |
2: 135,780,191 (GRCm39) |
T172I |
probably damaging |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,354 (GRCm39) |
W476R |
probably benign |
Het |
| Psg23 |
T |
A |
7: 18,348,703 (GRCm39) |
S35C |
possibly damaging |
Het |
| Pycr3 |
T |
A |
15: 75,791,144 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,727 (GRCm39) |
V764A |
possibly damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,960 (GRCm39) |
F80S |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,759,429 (GRCm39) |
L225P |
probably benign |
Het |
| Setd3 |
A |
G |
12: 108,079,651 (GRCm39) |
I284T |
possibly damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,663,846 (GRCm39) |
T290I |
possibly damaging |
Het |
| Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,525,294 (GRCm39) |
L39P |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,296,973 (GRCm39) |
R269L |
probably damaging |
Het |
| Vrk2 |
A |
T |
11: 26,497,914 (GRCm39) |
I90K |
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp984 |
A |
T |
4: 147,839,796 (GRCm39) |
C352S |
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 |
|
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 |
|
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'- CAAACAACTGTCTGGTGAGGG -3'
(R):5'- CTGTCCAACATTCTAGCACGC -3'
Sequencing Primer
(F):5'- TCTGGTGAGGGTTAGCAAAGTTACAC -3'
(R):5'- CACGCTGGGTGTTGATCAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation