Incidental Mutation 'R8311:Fam120a'
ID |
641397 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam120a
|
Ensembl Gene |
ENSMUSG00000038014 |
Gene Name |
family with sequence similarity 120, member A |
Synonyms |
|
MMRRC Submission |
067796-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8311 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49032695-49121493 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49087433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 309
(H309R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060805]
|
AlphaFold |
Q6A0A9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060805
AA Change: H309R
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000053877 Gene: ENSMUSG00000038014 AA Change: H309R
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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,184,815 (GRCm39) |
|
probably benign |
Het |
4930407I10Rik |
T |
C |
15: 81,947,440 (GRCm39) |
W446R |
possibly damaging |
Het |
Aldh1l2 |
T |
A |
10: 83,326,479 (GRCm39) |
E912D |
probably damaging |
Het |
Apol9a |
T |
C |
15: 77,289,220 (GRCm39) |
D49G |
possibly damaging |
Het |
Bnc2 |
A |
T |
4: 84,194,582 (GRCm39) |
D847E |
possibly damaging |
Het |
Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
Copb2 |
G |
T |
9: 98,450,072 (GRCm39) |
K10N |
possibly damaging |
Het |
Cyp4a14 |
A |
G |
4: 115,348,275 (GRCm39) |
S401P |
probably damaging |
Het |
Cyp4f15 |
A |
T |
17: 32,916,914 (GRCm39) |
Q277L |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,354,217 (GRCm39) |
S410T |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,880,644 (GRCm39) |
N2651S |
probably benign |
Het |
Efhb |
A |
G |
17: 53,720,489 (GRCm39) |
|
probably null |
Het |
Eif4ebp1 |
T |
A |
8: 27,765,124 (GRCm39) |
F113L |
probably damaging |
Het |
Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
Eng |
A |
G |
2: 32,569,005 (GRCm39) |
T511A |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,474,817 (GRCm39) |
D266G |
probably damaging |
Het |
Gga3 |
A |
T |
11: 115,477,834 (GRCm39) |
S585T |
probably benign |
Het |
Gm12117 |
T |
C |
11: 33,226,126 (GRCm39) |
Q70R |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,373,701 (GRCm39) |
H212R |
probably benign |
Het |
Hmgb1 |
A |
G |
5: 148,987,427 (GRCm39) |
F41L |
possibly damaging |
Het |
Iqcm |
T |
A |
8: 76,480,118 (GRCm39) |
|
probably benign |
Het |
Itgav |
T |
A |
2: 83,596,121 (GRCm39) |
I214N |
probably damaging |
Het |
Kcna1 |
T |
A |
6: 126,619,255 (GRCm39) |
H355L |
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,394,247 (GRCm39) |
V393I |
probably benign |
Het |
Mak16 |
T |
C |
8: 31,658,697 (GRCm39) |
D4G |
probably damaging |
Het |
Metap2 |
C |
T |
10: 93,697,384 (GRCm39) |
R432H |
possibly damaging |
Het |
Nlrc4 |
G |
A |
17: 74,753,540 (GRCm39) |
T281M |
probably damaging |
Het |
Ntrk1 |
T |
A |
3: 87,688,870 (GRCm39) |
Q561L |
probably damaging |
Het |
Or10ak7 |
A |
C |
4: 118,791,347 (GRCm39) |
S231A |
probably damaging |
Het |
Or10w3 |
A |
G |
19: 13,704,035 (GRCm39) |
T137A |
possibly damaging |
Het |
Pira1 |
T |
C |
7: 3,739,482 (GRCm39) |
D462G |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,628,282 (GRCm39) |
I1304V |
probably null |
Het |
Ppp4r2 |
T |
C |
6: 100,843,343 (GRCm39) |
S354P |
probably benign |
Het |
Ptchd3 |
A |
G |
11: 121,727,299 (GRCm39) |
H391R |
possibly damaging |
Het |
Rchy1 |
T |
C |
5: 92,099,762 (GRCm39) |
D192G |
probably damaging |
Het |
Rmdn1 |
T |
C |
4: 19,575,329 (GRCm39) |
|
probably null |
Het |
Rp1 |
T |
A |
1: 4,418,572 (GRCm39) |
I847L |
probably benign |
Het |
Rtn1 |
T |
C |
12: 72,350,838 (GRCm39) |
E457G |
probably damaging |
Het |
Serpind1 |
G |
A |
16: 17,160,730 (GRCm39) |
S420N |
possibly damaging |
Het |
Sirpa |
T |
C |
2: 129,458,143 (GRCm39) |
V253A |
probably damaging |
Het |
Snapc4 |
A |
T |
2: 26,268,546 (GRCm39) |
F38L |
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,973,169 (GRCm39) |
V834A |
probably benign |
Het |
Srcap |
T |
C |
7: 127,156,969 (GRCm39) |
F2321S |
probably damaging |
Het |
Stat4 |
A |
T |
1: 52,142,075 (GRCm39) |
I641F |
probably damaging |
Het |
Tmem216 |
A |
T |
19: 10,529,191 (GRCm39) |
F65Y |
probably benign |
Het |
Tmem37 |
C |
T |
1: 119,995,982 (GRCm39) |
V32M |
possibly damaging |
Het |
Tmprss11c |
T |
G |
5: 86,383,412 (GRCm39) |
Q338P |
probably damaging |
Het |
Tonsl |
C |
T |
15: 76,517,463 (GRCm39) |
S752N |
probably benign |
Het |
Vmn1r26 |
T |
C |
6: 57,985,518 (GRCm39) |
K224E |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,887,100 (GRCm39) |
V3229D |
probably benign |
Het |
Vwa5b2 |
C |
T |
16: 20,409,972 (GRCm39) |
R21W |
probably damaging |
Het |
Wdr37 |
T |
C |
13: 8,903,609 (GRCm39) |
R165G |
unknown |
Het |
Yars2 |
T |
C |
16: 16,125,147 (GRCm39) |
F388L |
probably benign |
Het |
Ykt6 |
T |
A |
11: 5,912,366 (GRCm39) |
D106E |
probably benign |
Het |
Zc3h12a |
A |
C |
4: 125,020,788 (GRCm39) |
S18R |
possibly 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 |
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 |
X0003:Fam120a
|
UTSW |
13 |
49,102,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTATGAACAGAGCACTTAAGAGC -3'
(R):5'- CCAGTAAGCAGGCACACTTTG -3'
Sequencing Primer
(F):5'- GAGCACCATAGACTCTGGCATTATC -3'
(R):5'- GCAGGCACACTTTGGAGTATC -3'
|
Posted On |
2020-07-28 |