Incidental Mutation 'R5500:Gm4847'
ID |
430549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4847
|
Ensembl Gene |
ENSMUSG00000051081 |
Gene Name |
predicted gene 4847 |
Synonyms |
|
MMRRC Submission |
043061-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R5500 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
166456540-166475262 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 166462611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 293
(I293T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046662]
|
AlphaFold |
G3X946 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046662
AA Change: I293T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039839 Gene: ENSMUSG00000051081 AA Change: I293T
Domain | Start | End | E-Value | Type |
Pfam:FMO-like
|
3 |
533 |
1.4e-235 |
PFAM |
Pfam:Pyr_redox_2
|
4 |
241 |
5.2e-11 |
PFAM |
Pfam:Pyr_redox_3
|
7 |
221 |
6.7e-15 |
PFAM |
Pfam:NAD_binding_8
|
8 |
92 |
1.6e-7 |
PFAM |
Pfam:K_oxygenase
|
77 |
333 |
5.2e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,451,508 (GRCm39) |
Q864L |
probably benign |
Het |
AI182371 |
A |
G |
2: 34,990,650 (GRCm39) |
S16P |
probably damaging |
Het |
Amy1 |
A |
T |
3: 113,356,371 (GRCm39) |
Y262N |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,150,090 (GRCm39) |
D2583G |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,403,485 (GRCm39) |
K303E |
probably benign |
Het |
Dis3l2 |
T |
C |
1: 86,948,841 (GRCm39) |
|
probably null |
Het |
Evi5l |
T |
A |
8: 4,241,658 (GRCm39) |
M329K |
probably damaging |
Het |
Fam169b |
A |
G |
7: 68,000,117 (GRCm39) |
D221G |
probably damaging |
Het |
Farsb |
T |
C |
1: 78,447,761 (GRCm39) |
D126G |
probably damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,318,687 (GRCm39) |
H463R |
possibly damaging |
Het |
Iigp1c |
G |
A |
18: 60,379,092 (GRCm39) |
R209H |
probably damaging |
Het |
Kank1 |
A |
T |
19: 25,401,696 (GRCm39) |
D1101V |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,033,008 (GRCm39) |
M98I |
probably benign |
Het |
Kdsr |
A |
G |
1: 106,687,374 (GRCm39) |
|
probably benign |
Het |
Kif18b |
A |
T |
11: 102,806,526 (GRCm39) |
V107E |
probably damaging |
Het |
Klhl41 |
A |
G |
2: 69,513,873 (GRCm39) |
E584G |
probably damaging |
Het |
Kpnb1 |
G |
A |
11: 97,063,937 (GRCm39) |
A389V |
possibly damaging |
Het |
Krtap31-2 |
A |
G |
11: 99,827,173 (GRCm39) |
T2A |
possibly damaging |
Het |
Lama3 |
A |
T |
18: 12,589,821 (GRCm39) |
I784F |
possibly damaging |
Het |
Lpar1 |
G |
A |
4: 58,486,573 (GRCm39) |
R233C |
probably benign |
Het |
Neb |
C |
A |
2: 52,052,079 (GRCm39) |
|
probably null |
Het |
Neo1 |
A |
G |
9: 58,824,337 (GRCm39) |
I697T |
possibly damaging |
Het |
Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
Pgm2l1 |
T |
G |
7: 99,917,340 (GRCm39) |
S486A |
probably benign |
Het |
Prpf40a |
A |
T |
2: 53,035,296 (GRCm39) |
S748R |
probably benign |
Het |
Recql4 |
A |
G |
15: 76,589,778 (GRCm39) |
|
probably benign |
Het |
Rhbdl1 |
T |
C |
17: 26,055,528 (GRCm39) |
T20A |
possibly damaging |
Het |
Ric8a |
T |
C |
7: 140,438,228 (GRCm39) |
Y156H |
probably benign |
Het |
Rnf111 |
C |
A |
9: 70,383,325 (GRCm39) |
G203C |
possibly damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc2a12 |
G |
A |
10: 22,541,036 (GRCm39) |
G297E |
probably damaging |
Het |
Slc35f1 |
A |
T |
10: 52,809,318 (GRCm39) |
I102F |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Slitrk3 |
T |
C |
3: 72,957,680 (GRCm39) |
Y364C |
probably damaging |
Het |
Tdrd9 |
T |
C |
12: 111,989,702 (GRCm39) |
Y505H |
probably benign |
Het |
Tlr1 |
G |
T |
5: 65,084,441 (GRCm39) |
D45E |
probably benign |
Het |
Upp1 |
G |
A |
11: 9,081,774 (GRCm39) |
V104M |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,341,875 (GRCm39) |
V1330A |
probably damaging |
Het |
Zbed5 |
T |
A |
5: 129,930,823 (GRCm39) |
Y257* |
probably null |
Het |
|
Other mutations in Gm4847 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00726:Gm4847
|
APN |
1 |
166,457,961 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL00943:Gm4847
|
APN |
1 |
166,469,922 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00948:Gm4847
|
APN |
1 |
166,457,907 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01146:Gm4847
|
APN |
1 |
166,462,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01345:Gm4847
|
APN |
1 |
166,462,541 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01654:Gm4847
|
APN |
1 |
166,465,917 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01817:Gm4847
|
APN |
1 |
166,462,471 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02028:Gm4847
|
APN |
1 |
166,469,765 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02031:Gm4847
|
APN |
1 |
166,462,578 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02412:Gm4847
|
APN |
1 |
166,469,307 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03278:Gm4847
|
APN |
1 |
166,462,605 (GRCm39) |
missense |
probably benign |
0.06 |
Disturbance
|
UTSW |
1 |
166,467,677 (GRCm39) |
missense |
probably damaging |
1.00 |
ruckus
|
UTSW |
1 |
166,457,824 (GRCm39) |
missense |
probably benign |
0.07 |
PIT4494001:Gm4847
|
UTSW |
1 |
166,467,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Gm4847
|
UTSW |
1 |
166,458,055 (GRCm39) |
missense |
probably benign |
0.00 |
R0009:Gm4847
|
UTSW |
1 |
166,458,055 (GRCm39) |
missense |
probably benign |
0.00 |
R0121:Gm4847
|
UTSW |
1 |
166,469,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R0492:Gm4847
|
UTSW |
1 |
166,457,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Gm4847
|
UTSW |
1 |
166,457,824 (GRCm39) |
missense |
probably benign |
0.07 |
R1136:Gm4847
|
UTSW |
1 |
166,457,935 (GRCm39) |
missense |
probably damaging |
0.98 |
R1522:Gm4847
|
UTSW |
1 |
166,469,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Gm4847
|
UTSW |
1 |
166,465,908 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1818:Gm4847
|
UTSW |
1 |
166,465,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R1819:Gm4847
|
UTSW |
1 |
166,465,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Gm4847
|
UTSW |
1 |
166,462,472 (GRCm39) |
missense |
probably benign |
0.00 |
R4628:Gm4847
|
UTSW |
1 |
166,457,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R4850:Gm4847
|
UTSW |
1 |
166,469,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R5065:Gm4847
|
UTSW |
1 |
166,462,359 (GRCm39) |
missense |
probably damaging |
0.99 |
R5068:Gm4847
|
UTSW |
1 |
166,465,953 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5493:Gm4847
|
UTSW |
1 |
166,457,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R5990:Gm4847
|
UTSW |
1 |
166,470,942 (GRCm39) |
missense |
probably benign |
0.00 |
R6018:Gm4847
|
UTSW |
1 |
166,471,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R6178:Gm4847
|
UTSW |
1 |
166,469,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Gm4847
|
UTSW |
1 |
166,457,892 (GRCm39) |
missense |
probably damaging |
0.98 |
R6220:Gm4847
|
UTSW |
1 |
166,462,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R6654:Gm4847
|
UTSW |
1 |
166,457,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R7634:Gm4847
|
UTSW |
1 |
166,460,249 (GRCm39) |
missense |
probably benign |
|
R7796:Gm4847
|
UTSW |
1 |
166,469,819 (GRCm39) |
missense |
probably damaging |
0.96 |
R7856:Gm4847
|
UTSW |
1 |
166,462,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R7877:Gm4847
|
UTSW |
1 |
166,467,575 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8130:Gm4847
|
UTSW |
1 |
166,465,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8361:Gm4847
|
UTSW |
1 |
166,469,839 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8496:Gm4847
|
UTSW |
1 |
166,469,761 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8935:Gm4847
|
UTSW |
1 |
166,469,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R9023:Gm4847
|
UTSW |
1 |
166,469,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R9055:Gm4847
|
UTSW |
1 |
166,467,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Gm4847
|
UTSW |
1 |
166,460,281 (GRCm39) |
missense |
probably benign |
|
R9513:Gm4847
|
UTSW |
1 |
166,462,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R9653:Gm4847
|
UTSW |
1 |
166,467,582 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0018:Gm4847
|
UTSW |
1 |
166,462,519 (GRCm39) |
missense |
probably benign |
0.24 |
X0024:Gm4847
|
UTSW |
1 |
166,460,284 (GRCm39) |
missense |
possibly damaging |
0.87 |
Z1177:Gm4847
|
UTSW |
1 |
166,462,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGTTGTCTAGGACTCCTG -3'
(R):5'- AAAATGTTCCATGGCTTGTCC -3'
Sequencing Primer
(F):5'- CAAAGATGGCCGATGTTG -3'
(R):5'- CCATGGTTTCTCTATGGGTATGAGAC -3'
|
Posted On |
2016-10-05 |