Incidental Mutation 'R7796:Gm4847'
| ID |
600206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4847
|
| Ensembl Gene |
ENSMUSG00000051081 |
| Gene Name |
predicted gene 4847 |
| Synonyms |
|
| MMRRC Submission |
045852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R7796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166456540-166475262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 166469819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 85
(H85Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046662]
|
| AlphaFold |
G3X946 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046662
AA Change: H85Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: H85Y
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
T |
A |
16: 97,867,024 (GRCm39) |
I313F |
probably benign |
Het |
| Acot2 |
T |
A |
12: 84,035,257 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
G |
T |
4: 110,518,165 (GRCm39) |
G152V |
unknown |
Het |
| Arap2 |
A |
G |
5: 62,888,105 (GRCm39) |
S414P |
probably damaging |
Het |
| Cep85l |
A |
C |
10: 53,157,497 (GRCm39) |
N735K |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,833 (GRCm39) |
S1209G |
possibly damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
| Dpf1 |
C |
G |
7: 29,011,106 (GRCm39) |
N168K |
possibly damaging |
Het |
| Dync1li2 |
T |
A |
8: 105,157,181 (GRCm39) |
Y184F |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,319,727 (GRCm39) |
T187A |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fndc3b |
G |
A |
3: 27,515,892 (GRCm39) |
T638I |
probably benign |
Het |
| Gm11564 |
A |
G |
11: 99,706,424 (GRCm39) |
V2A |
unknown |
Het |
| Gm3159 |
A |
G |
14: 4,400,560 (GRCm38) |
*206W |
probably null |
Het |
| Gm32742 |
A |
G |
9: 51,071,123 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
A |
T |
11: 114,755,358 (GRCm39) |
D345V |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,007,854 (GRCm39) |
Y1363* |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,367,724 (GRCm39) |
V473A |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,032,350 (GRCm39) |
C28R |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,321,965 (GRCm39) |
Y664H |
probably damaging |
Het |
| Krt17 |
A |
G |
11: 100,151,698 (GRCm39) |
S32P |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,383,865 (GRCm39) |
V424A |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,759,634 (GRCm39) |
T201A |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,455,654 (GRCm39) |
|
probably null |
Het |
| Megf10 |
C |
A |
18: 57,410,731 (GRCm39) |
T680N |
possibly damaging |
Het |
| Metap1d |
T |
A |
2: 71,342,506 (GRCm39) |
D178E |
probably damaging |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,299,923 (GRCm39) |
S1704P |
probably damaging |
Het |
| Nr2f2 |
A |
G |
7: 70,007,901 (GRCm39) |
S194P |
probably benign |
Het |
| Nrsn2 |
T |
A |
2: 152,218,471 (GRCm39) |
|
probably benign |
Het |
| Ociad1 |
C |
T |
5: 73,452,290 (GRCm39) |
P27L |
probably damaging |
Het |
| Or13p5 |
T |
A |
4: 118,591,882 (GRCm39) |
I52N |
probably damaging |
Het |
| Or4a39 |
T |
A |
2: 89,237,157 (GRCm39) |
T89S |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,435,220 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,446 (GRCm39) |
I140V |
possibly damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,202,025 (GRCm39) |
N49D |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,727 (GRCm39) |
D432V |
possibly damaging |
Het |
| Pxdc1 |
T |
A |
13: 34,836,354 (GRCm39) |
N22I |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,996,865 (GRCm39) |
Y672H |
probably damaging |
Het |
| Rps23rg1 |
T |
C |
8: 3,634,160 (GRCm39) |
V111A |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,873,327 (GRCm39) |
R779G |
possibly damaging |
Het |
| Skic2 |
C |
T |
17: 35,063,394 (GRCm39) |
G628S |
probably damaging |
Het |
| Smg5 |
A |
T |
3: 88,256,739 (GRCm39) |
Q299L |
probably damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,929,044 (GRCm39) |
L864S |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,119,212 (GRCm39) |
V119A |
probably benign |
Het |
| Tasp1 |
T |
C |
2: 139,850,705 (GRCm39) |
N106S |
probably damaging |
Het |
| Tcf4 |
T |
A |
18: 69,697,140 (GRCm39) |
N156K |
probably benign |
Het |
| Trav14n-3 |
T |
A |
14: 53,607,827 (GRCm39) |
Y52* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,665,222 (GRCm39) |
E11598G |
unknown |
Het |
| Unc80 |
A |
G |
1: 66,542,873 (GRCm39) |
I376V |
probably benign |
Het |
| Ybx3 |
T |
C |
6: 131,345,479 (GRCm39) |
E298G |
probably damaging |
Het |
| Yipf7 |
T |
C |
5: 69,684,596 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,583 (GRCm39) |
A321T |
possibly damaging |
Het |
| Zfp369 |
A |
G |
13: 65,444,029 (GRCm39) |
R391G |
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,654,982 (GRCm39) |
E492G |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,673,403 (GRCm39) |
T51A |
probably benign |
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 |
|
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 |
|
|
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'- TGGCGAATCCTAAGAGTGGG -3'
(R):5'- CGGCTGAATACTATCACAAAATCTGG -3'
Sequencing Primer
(F):5'- GGGGGAGGGGATTAAATGC -3'
(R):5'- GATTGTGACTTTACGAACACTTCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation