Incidental Mutation 'R0989:Gm4846'
| ID |
97455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4846
|
| Ensembl Gene |
ENSMUSG00000086056 |
| Gene Name |
predicted gene 4846 |
| Synonyms |
|
| MMRRC Submission |
039109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0989 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
166311182-166325157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 166314689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 318
(S318L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143922]
|
| AlphaFold |
B2RWH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143922
AA Change: S318L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123476
Gene: ENSMUSG00000086056
AA Change: S318L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
G |
7: 131,030,273 (GRCm39) |
D140G |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,518,710 (GRCm39) |
S43P |
possibly damaging |
Het |
| C4bp |
G |
A |
1: 130,570,790 (GRCm39) |
T262I |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,370,289 (GRCm39) |
Y169H |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,480 (GRCm39) |
E831G |
probably benign |
Het |
| Celsr2 |
A |
C |
3: 108,310,588 (GRCm39) |
M1498R |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,508,373 (GRCm39) |
V59A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,875,002 (GRCm39) |
I2560V |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,739,155 (GRCm39) |
M376K |
possibly damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,685,149 (GRCm39) |
V328A |
probably benign |
Het |
| Golm1 |
A |
T |
13: 59,787,997 (GRCm39) |
Y301N |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,698,180 (GRCm39) |
T614A |
probably benign |
Het |
| Klhl33 |
T |
A |
14: 51,129,279 (GRCm39) |
Y390F |
probably damaging |
Het |
| Minar1 |
T |
A |
9: 89,484,088 (GRCm39) |
K436N |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,316,169 (GRCm39) |
S6P |
probably benign |
Het |
| Neurod2 |
A |
G |
11: 98,218,805 (GRCm39) |
S120P |
probably damaging |
Het |
| Nfkb1 |
A |
G |
3: 135,295,157 (GRCm39) |
S896P |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,914,193 (GRCm39) |
Y687H |
probably damaging |
Het |
| Or13a24 |
A |
C |
7: 140,154,200 (GRCm39) |
I45L |
probably damaging |
Het |
| Or52k2 |
G |
A |
7: 102,253,690 (GRCm39) |
G43D |
probably damaging |
Het |
| Parp3 |
C |
T |
9: 106,350,281 (GRCm39) |
|
probably null |
Het |
| Pcolce2 |
T |
A |
9: 95,520,776 (GRCm39) |
M51K |
probably benign |
Het |
| Pnoc |
T |
C |
14: 65,642,317 (GRCm39) |
K149E |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,967,997 (GRCm39) |
V1130G |
probably damaging |
Het |
| Prcp |
A |
T |
7: 92,559,424 (GRCm39) |
I163F |
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,559,016 (GRCm39) |
D361G |
probably damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,669,920 (GRCm39) |
L785* |
probably null |
Het |
| Ssna1 |
T |
C |
2: 25,161,575 (GRCm39) |
T91A |
probably benign |
Het |
| St18 |
A |
G |
1: 6,898,105 (GRCm39) |
T636A |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,136,736 (GRCm39) |
A1250T |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,499,176 (GRCm39) |
M815V |
probably damaging |
Het |
| Tspan31 |
T |
A |
10: 126,904,196 (GRCm39) |
H167L |
probably damaging |
Het |
| Tspoap1 |
T |
A |
11: 87,656,649 (GRCm39) |
C287S |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,685,599 (GRCm39) |
F2241S |
possibly 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 |
|
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 |
|
R6764:Gm4846
|
UTSW |
1 |
166,319,121 (GRCm39) |
missense |
probably benign |
|
|
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'- GCTCCTATAAAGACCATCATACCTGCG -3'
(R):5'- GAGCTGTCCAGAAATTCACAGTGAGG -3'
Sequencing Primer
(F):5'- TGTAACCCATCGGCTTTGG -3'
(R):5'- GGTTTTCTAAGCACTAATGACCTCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation