Incidental Mutation 'R6764:Gm4846'
ID |
531801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4846
|
Ensembl Gene |
ENSMUSG00000086056 |
Gene Name |
predicted gene 4846 |
Synonyms |
|
MMRRC Submission |
044880-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R6764 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
166311182-166325157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 166319121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 206
(C206R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123476
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143922]
|
AlphaFold |
B2RWH8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000143922
AA Change: C206R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000123476 Gene: ENSMUSG00000086056 AA Change: C206R
Domain | Start | End | E-Value | Type |
Pfam:FMO-like
|
3 |
534 |
9.2e-239 |
PFAM |
Pfam:Pyr_redox_2
|
4 |
227 |
1.1e-10 |
PFAM |
Pfam:Pyr_redox_3
|
7 |
221 |
1.9e-12 |
PFAM |
Pfam:NAD_binding_8
|
8 |
92 |
4.2e-7 |
PFAM |
Pfam:K_oxygenase
|
77 |
333 |
3.4e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
G |
T |
11: 53,290,657 (GRCm39) |
R539L |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,389,441 (GRCm39) |
Y1147N |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,019,970 (GRCm39) |
F423L |
probably damaging |
Het |
Atp1a2 |
A |
T |
1: 172,112,181 (GRCm39) |
D571E |
probably benign |
Het |
Bank1 |
A |
G |
3: 135,948,701 (GRCm39) |
S159P |
probably damaging |
Het |
Bcan |
C |
A |
3: 87,895,685 (GRCm39) |
R817L |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,304,014 (GRCm39) |
S1990P |
possibly damaging |
Het |
Ccna1 |
G |
A |
3: 54,953,499 (GRCm39) |
T368M |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,038,056 (GRCm39) |
|
probably null |
Het |
Ctbp1 |
T |
C |
5: 33,416,589 (GRCm39) |
H136R |
possibly damaging |
Het |
Dner |
T |
G |
1: 84,472,502 (GRCm39) |
D366A |
probably damaging |
Het |
Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
Evpl |
A |
G |
11: 116,113,770 (GRCm39) |
S1307P |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 91,966,402 (GRCm39) |
N720K |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,355,560 (GRCm39) |
E667G |
unknown |
Het |
Grpel1 |
G |
A |
5: 36,622,569 (GRCm39) |
R11H |
probably benign |
Het |
Gsn |
A |
G |
2: 35,174,056 (GRCm39) |
Y55C |
probably damaging |
Het |
Hephl1 |
G |
A |
9: 15,000,217 (GRCm39) |
T345I |
possibly damaging |
Het |
Ints2 |
T |
A |
11: 86,103,605 (GRCm39) |
K1150N |
probably benign |
Het |
Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
Musk |
T |
C |
4: 58,354,027 (GRCm39) |
V360A |
probably damaging |
Het |
Naalad2 |
A |
T |
9: 18,314,185 (GRCm39) |
|
probably benign |
Het |
Ninj2 |
G |
T |
6: 120,175,011 (GRCm39) |
A51S |
probably benign |
Het |
Nscme3l |
A |
G |
19: 5,552,900 (GRCm39) |
S294P |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,223,732 (GRCm39) |
Y182H |
probably damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,942,059 (GRCm39) |
F916S |
probably damaging |
Het |
Sfrp5 |
T |
A |
19: 42,188,238 (GRCm39) |
M194L |
probably benign |
Het |
Sigirr |
C |
T |
7: 140,673,155 (GRCm39) |
V99I |
probably benign |
Het |
Smco2 |
A |
G |
6: 146,772,827 (GRCm39) |
D343G |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,674,234 (GRCm39) |
I584T |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,179,011 (GRCm39) |
Q4488* |
probably null |
Het |
Tbc1d24 |
A |
C |
17: 24,404,754 (GRCm39) |
F130C |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,686,340 (GRCm39) |
V296A |
possibly damaging |
Het |
Ttll11 |
T |
C |
2: 35,780,460 (GRCm39) |
|
probably null |
Het |
Vmn2r115 |
A |
G |
17: 23,565,046 (GRCm39) |
D311G |
probably damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,552,695 (GRCm39) |
S854P |
probably damaging |
Het |
Zfp330 |
C |
T |
8: 83,493,934 (GRCm39) |
C109Y |
probably damaging |
Het |
Zfp534 |
C |
T |
4: 147,759,175 (GRCm39) |
G498D |
probably benign |
Het |
Zfp62 |
A |
G |
11: 49,105,996 (GRCm39) |
D29G |
probably damaging |
Het |
|
Other mutations in Gm4846 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02682:Gm4846
|
APN |
1 |
166,322,195 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02975:Gm4846
|
APN |
1 |
166,311,449 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0504:Gm4846
|
UTSW |
1 |
166,319,114 (GRCm39) |
missense |
probably benign |
0.04 |
R0989:Gm4846
|
UTSW |
1 |
166,314,689 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1836:Gm4846
|
UTSW |
1 |
166,311,492 (GRCm39) |
missense |
probably benign |
0.17 |
R1965:Gm4846
|
UTSW |
1 |
166,314,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3120:Gm4846
|
UTSW |
1 |
166,319,117 (GRCm39) |
missense |
probably benign |
0.11 |
R4013:Gm4846
|
UTSW |
1 |
166,322,249 (GRCm39) |
splice site |
probably null |
|
R4617:Gm4846
|
UTSW |
1 |
166,323,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R4641:Gm4846
|
UTSW |
1 |
166,311,462 (GRCm39) |
missense |
probably damaging |
0.99 |
R4825:Gm4846
|
UTSW |
1 |
166,319,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R4952:Gm4846
|
UTSW |
1 |
166,311,503 (GRCm39) |
missense |
probably damaging |
0.97 |
R5135:Gm4846
|
UTSW |
1 |
166,311,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R5230:Gm4846
|
UTSW |
1 |
166,317,748 (GRCm39) |
missense |
probably benign |
0.26 |
R5335:Gm4846
|
UTSW |
1 |
166,325,022 (GRCm39) |
nonsense |
probably null |
|
R5711:Gm4846
|
UTSW |
1 |
166,311,594 (GRCm39) |
missense |
probably benign |
0.12 |
R5957:Gm4846
|
UTSW |
1 |
166,314,522 (GRCm39) |
missense |
probably benign |
|
R6024:Gm4846
|
UTSW |
1 |
166,317,696 (GRCm39) |
missense |
probably benign |
0.00 |
R6460:Gm4846
|
UTSW |
1 |
166,325,082 (GRCm39) |
missense |
probably benign |
0.00 |
R6833:Gm4846
|
UTSW |
1 |
166,322,147 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6834:Gm4846
|
UTSW |
1 |
166,322,147 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7161:Gm4846
|
UTSW |
1 |
166,314,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Gm4846
|
UTSW |
1 |
166,314,648 (GRCm39) |
missense |
probably benign |
0.01 |
R7622:Gm4846
|
UTSW |
1 |
166,323,441 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7890:Gm4846
|
UTSW |
1 |
166,322,228 (GRCm39) |
missense |
probably benign |
|
R8072:Gm4846
|
UTSW |
1 |
166,322,241 (GRCm39) |
missense |
probably benign |
0.06 |
R8558:Gm4846
|
UTSW |
1 |
166,314,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R9213:Gm4846
|
UTSW |
1 |
166,322,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R9221:Gm4846
|
UTSW |
1 |
166,324,959 (GRCm39) |
missense |
probably benign |
0.02 |
R9251:Gm4846
|
UTSW |
1 |
166,311,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAATGACATCCAGAAGACAAATG -3'
(R):5'- GCTTAGGAATGGAATTTGCCAAG -3'
Sequencing Primer
(F):5'- GGAACCTCCTTTGAGAAATGC -3'
(R):5'- GGAATTTGCCAAGTGTATTTTCCAC -3'
|
Posted On |
2018-08-29 |