Incidental Mutation 'R0121:Gm4847'
| ID |
21017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4847
|
| Ensembl Gene |
ENSMUSG00000051081 |
| Gene Name |
predicted gene 4847 |
| Synonyms |
|
| MMRRC Submission |
038406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R0121 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
166456540-166475262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 166469857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 72
(D72G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046662]
|
| AlphaFold |
G3X946 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046662
AA Change: D72G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: D72G
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.8%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,298,945 (GRCm39) |
|
probably null |
Het |
| Adgra3 |
T |
C |
5: 50,183,128 (GRCm39) |
|
probably benign |
Het |
| Anxa7 |
A |
T |
14: 20,510,227 (GRCm39) |
L386M |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,212,793 (GRCm39) |
M58V |
possibly damaging |
Het |
| Arfip2 |
A |
G |
7: 105,285,578 (GRCm39) |
L224P |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,251 (GRCm39) |
N373S |
possibly damaging |
Het |
| Asph |
T |
C |
4: 9,635,918 (GRCm39) |
D73G |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,116,909 (GRCm39) |
E236V |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,057,116 (GRCm39) |
S170P |
probably damaging |
Het |
| Atp4a |
C |
G |
7: 30,419,526 (GRCm39) |
R659G |
probably benign |
Het |
| B4galnt3 |
C |
T |
6: 120,191,999 (GRCm39) |
R578H |
probably benign |
Het |
| Ccdc178 |
C |
A |
18: 21,978,081 (GRCm39) |
|
probably null |
Het |
| Ccnh |
T |
A |
13: 85,354,312 (GRCm39) |
M252K |
probably damaging |
Het |
| Clec4b2 |
A |
G |
6: 123,181,131 (GRCm39) |
D172G |
probably benign |
Het |
| Col1a1 |
A |
G |
11: 94,828,895 (GRCm39) |
E79G |
unknown |
Het |
| Csf3r |
A |
G |
4: 125,923,642 (GRCm39) |
N51D |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,974,299 (GRCm39) |
L1489F |
probably damaging |
Het |
| Cyp2b13 |
G |
A |
7: 25,786,010 (GRCm39) |
C309Y |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,001,327 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
A |
G |
13: 42,458,741 (GRCm39) |
T135A |
probably benign |
Het |
| Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,561,444 (GRCm39) |
F12L |
probably benign |
Het |
| Foxi2 |
C |
A |
7: 135,013,640 (GRCm39) |
A290E |
probably benign |
Het |
| Gabra6 |
A |
G |
11: 42,205,798 (GRCm39) |
S353P |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,279,860 (GRCm39) |
I398T |
probably damaging |
Het |
| Gtdc1 |
T |
C |
2: 44,455,550 (GRCm39) |
|
probably benign |
Het |
| Kel |
A |
C |
6: 41,678,998 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
C |
T |
10: 26,189,768 (GRCm39) |
D499N |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,105,508 (GRCm39) |
|
probably benign |
Het |
| Mamdc2 |
T |
A |
19: 23,288,223 (GRCm39) |
E605V |
probably benign |
Het |
| Nolc1 |
G |
A |
19: 46,069,817 (GRCm39) |
|
probably benign |
Het |
| Nudt12 |
A |
T |
17: 59,314,634 (GRCm39) |
S317T |
possibly damaging |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,659 (GRCm39) |
C18S |
probably benign |
Het |
| Or5w20 |
A |
G |
2: 87,727,434 (GRCm39) |
K297R |
possibly damaging |
Het |
| Or8g23 |
T |
A |
9: 38,971,056 (GRCm39) |
K302M |
probably damaging |
Het |
| Or8k38 |
A |
G |
2: 86,488,163 (GRCm39) |
V213A |
probably benign |
Het |
| Pbld1 |
C |
T |
10: 62,907,282 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
T |
G |
13: 27,744,589 (GRCm39) |
N84T |
probably benign |
Het |
| Psph |
T |
A |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
A |
G |
7: 110,088,426 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 80,023,952 (GRCm39) |
D405G |
probably benign |
Het |
| Serpinb1a |
T |
A |
13: 33,032,754 (GRCm39) |
|
probably benign |
Het |
| Slc2a9 |
T |
C |
5: 38,556,086 (GRCm39) |
I287V |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,795,321 (GRCm39) |
F1593S |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,776,915 (GRCm39) |
Q727L |
probably damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,147,017 (GRCm39) |
E450K |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,795,694 (GRCm39) |
T532I |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,612,630 (GRCm39) |
Q396L |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,294,770 (GRCm39) |
|
probably benign |
Het |
| Twnk |
T |
C |
19: 44,997,704 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,898,871 (GRCm39) |
|
probably null |
Het |
| Ubn2 |
T |
C |
6: 38,429,793 (GRCm39) |
|
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,249 (GRCm39) |
T333S |
possibly damaging |
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 |
|
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 |
|
R5500:Gm4847
|
UTSW |
1 |
166,462,611 (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'- TGTGTGGACTTTGCCTTGACCC -3'
(R):5'- GCTCATGGTGTCTCCAGGAGTTAGAAG -3'
Sequencing Primer
(F):5'- TGCCTTGACCCATGTGCAG -3'
(R):5'- GCTATTACAGAGCCAGGATCTATG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation