Incidental Mutation 'R4641:Gm4846'
| ID |
351633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4846
|
| Ensembl Gene |
ENSMUSG00000086056 |
| Gene Name |
predicted gene 4846 |
| Synonyms |
|
| MMRRC Submission |
041903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4641 (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 166311462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 466
(P466S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143922]
|
| AlphaFold |
B2RWH8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143922
AA Change: P466S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123476
Gene: ENSMUSG00000086056
AA Change: P466S
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,841,615 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,653,615 (GRCm39) |
F54I |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,045,892 (GRCm39) |
S619L |
probably benign |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,446 (GRCm39) |
Y31C |
probably damaging |
Het |
| Eif1ad5 |
A |
G |
12: 87,946,852 (GRCm39) |
D98G |
probably benign |
Het |
| Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
| Fbxw14 |
A |
G |
9: 109,107,750 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,056,224 (GRCm39) |
R1163H |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Ift122 |
A |
T |
6: 115,865,726 (GRCm39) |
K339* |
probably null |
Het |
| Il6st |
T |
C |
13: 112,625,064 (GRCm39) |
S227P |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,375,708 (GRCm39) |
Y198C |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,482,932 (GRCm39) |
L595Q |
probably damaging |
Het |
| Mdc1 |
C |
G |
17: 36,168,361 (GRCm39) |
R1656G |
probably benign |
Het |
| Megf11 |
C |
T |
9: 64,597,407 (GRCm39) |
S662L |
possibly damaging |
Het |
| Mrps25 |
T |
C |
6: 92,160,881 (GRCm39) |
E25G |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,085,520 (GRCm39) |
G1815C |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,393,867 (GRCm39) |
D2353G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,058,390 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rnf123 |
T |
C |
9: 107,935,786 (GRCm39) |
D920G |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,258,178 (GRCm39) |
Y474C |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,646,285 (GRCm39) |
F439I |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,761,528 (GRCm39) |
V26A |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,182,862 (GRCm39) |
Q135K |
probably benign |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,166,809 (GRCm39) |
I669T |
probably benign |
Het |
| Tmem273 |
A |
G |
14: 32,528,839 (GRCm39) |
D68G |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,728,659 (GRCm39) |
S204P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,617,155 (GRCm39) |
Y16403F |
probably damaging |
Het |
| Ttyh2 |
G |
T |
11: 114,592,609 (GRCm39) |
W213L |
probably damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,610,755 (GRCm39) |
D360E |
probably damaging |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,393 (GRCm39) |
H1102L |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,370,557 (GRCm39) |
T665S |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,828 (GRCm39) |
I1739V |
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 |
|
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'- ATATGGCATGGATGATAGCAAACAC -3'
(R):5'- GGGTGAAATCTAACCCAGGC -3'
Sequencing Primer
(F):5'- CATGGATGATAGCAAACACAGAAAC -3'
(R):5'- GGTGAAATCTAACCCAGGCATTTAAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation