Incidental Mutation 'R6178:Gm4847'
| ID |
487856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4847
|
| Ensembl Gene |
ENSMUSG00000051081 |
| Gene Name |
predicted gene 4847 |
| Synonyms |
|
| MMRRC Submission |
044320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
166456540-166475262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 166469905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 56
(Y56C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046662]
|
| AlphaFold |
G3X946 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046662
AA Change: Y56C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: Y56C
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,678,468 (GRCm39) |
I61V |
probably benign |
Het |
| Afg3l2 |
G |
A |
18: 67,542,598 (GRCm39) |
T616I |
possibly damaging |
Het |
| Aktip |
T |
C |
8: 91,852,671 (GRCm39) |
N195S |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
| Atg7 |
T |
A |
6: 114,701,856 (GRCm39) |
I621N |
probably damaging |
Het |
| Becn1 |
T |
A |
11: 101,182,336 (GRCm39) |
I283F |
probably damaging |
Het |
| Btnl12 |
T |
C |
16: 37,676,422 (GRCm39) |
Y115C |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,952,380 (GRCm39) |
T1220A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,785,222 (GRCm39) |
R3004M |
probably benign |
Het |
| Clspn |
A |
T |
4: 126,471,529 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 48,536,854 (GRCm39) |
Y116C |
probably damaging |
Het |
| Dcp1a |
T |
G |
14: 30,245,261 (GRCm39) |
*603G |
probably null |
Het |
| Dmrtc1b |
C |
T |
X: 101,757,169 (GRCm39) |
P205S |
possibly damaging |
Het |
| Fev |
G |
T |
1: 74,923,698 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
A |
5: 150,377,987 (GRCm39) |
V393E |
probably damaging |
Het |
| Gm30646 |
A |
G |
7: 30,132,081 (GRCm39) |
|
probably null |
Het |
| Gm3676 |
C |
T |
14: 41,363,452 (GRCm39) |
E175K |
probably benign |
Het |
| Gm5422 |
T |
C |
10: 31,125,688 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm6 |
A |
G |
3: 107,848,397 (GRCm39) |
V174A |
probably benign |
Het |
| Isoc1 |
G |
T |
18: 58,804,664 (GRCm39) |
V191F |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 33,874,009 (GRCm39) |
D132V |
possibly damaging |
Het |
| Kcp |
T |
C |
6: 29,482,887 (GRCm39) |
D1394G |
possibly damaging |
Het |
| Marchf10 |
T |
G |
11: 105,280,440 (GRCm39) |
D615A |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,495,187 (GRCm39) |
I50T |
probably damaging |
Het |
| Mgp |
A |
G |
6: 136,849,722 (GRCm39) |
C79R |
probably damaging |
Het |
| Mpdz |
T |
A |
4: 81,226,602 (GRCm39) |
K1344N |
probably damaging |
Het |
| Mrgpre |
T |
A |
7: 143,334,708 (GRCm39) |
Y265F |
possibly damaging |
Het |
| Mro |
G |
A |
18: 74,006,295 (GRCm39) |
V80M |
possibly damaging |
Het |
| Mrpl44 |
G |
T |
1: 79,755,895 (GRCm39) |
C167F |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,410,079 (GRCm39) |
M1218V |
probably null |
Het |
| Naa16 |
T |
C |
14: 79,620,780 (GRCm39) |
I100V |
possibly damaging |
Het |
| Nup205 |
A |
T |
6: 35,220,778 (GRCm39) |
Y1860F |
possibly damaging |
Het |
| Or10aa3 |
A |
T |
1: 173,878,533 (GRCm39) |
Y198F |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,819 (GRCm39) |
I316M |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4c103 |
T |
C |
2: 88,513,977 (GRCm39) |
Y33C |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,932,071 (GRCm39) |
|
probably null |
Het |
| Pnpla3 |
G |
A |
15: 84,065,132 (GRCm39) |
A309T |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,498,296 (GRCm39) |
S624P |
possibly damaging |
Het |
| Ripor2 |
T |
C |
13: 24,894,113 (GRCm39) |
S714P |
possibly damaging |
Het |
| Robo4 |
C |
T |
9: 37,316,926 (GRCm39) |
Q414* |
probably null |
Het |
| Shc2 |
A |
G |
10: 79,465,954 (GRCm39) |
I161T |
probably damaging |
Het |
| Slc35b2 |
C |
T |
17: 45,877,302 (GRCm39) |
T143I |
probably benign |
Het |
| Slc39a13 |
T |
C |
2: 90,898,880 (GRCm39) |
D77G |
probably damaging |
Het |
| Snx6 |
A |
C |
12: 54,807,249 (GRCm39) |
D243E |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,711 (GRCm39) |
V161A |
probably benign |
Het |
| Tbr1 |
T |
A |
2: 61,635,159 (GRCm39) |
D36E |
possibly damaging |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,618 (GRCm39) |
N118S |
probably benign |
Het |
| Tgfb1i1 |
T |
C |
7: 127,852,517 (GRCm39) |
F478L |
probably damaging |
Het |
| Tmprss11f |
T |
C |
5: 86,704,837 (GRCm39) |
D27G |
probably benign |
Het |
| Trim30d |
T |
G |
7: 104,137,202 (GRCm39) |
M1L |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,679,301 (GRCm39) |
V420A |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,206,981 (GRCm39) |
P199H |
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,926,212 (GRCm39) |
T512A |
probably damaging |
Het |
| Zfp65 |
G |
A |
13: 67,858,437 (GRCm39) |
P76S |
probably benign |
Het |
| Zic5 |
A |
T |
14: 122,696,748 (GRCm39) |
H622Q |
unknown |
Het |
| Zpld1 |
A |
T |
16: 55,053,993 (GRCm39) |
N266K |
probably damaging |
Het |
| Zswim1 |
A |
G |
2: 164,667,972 (GRCm39) |
|
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 |
|
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 |
|
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'- TTTGCCTTGACCCATGTGCAG -3'
(R):5'- CAGAGCCAGGATCTATGAGTGG -3'
Sequencing Primer
(F):5'- ACCCATGTGCAGGCTGTG -3'
(R):5'- TGGAATTATTAAAAAGAAGCCAGCCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation