Incidental Mutation 'R0094:4931429L15Rik'
| ID |
64011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4931429L15Rik
|
| Ensembl Gene |
ENSMUSG00000056617 |
| Gene Name |
RIKEN cDNA 4931429L15 gene |
| Synonyms |
|
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
96 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
46214659-46231284 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46218184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 185
(T185S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159565]
[ENSMUST00000160795]
[ENSMUST00000172280]
|
| AlphaFold |
E9PVU2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159565
AA Change: T185S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617
AA Change: T185S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160795
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172280
AA Change: T185S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128017
Gene: ENSMUSG00000056617
AA Change: T185S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,462,567 (GRCm39) |
V626M |
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,892,460 (GRCm39) |
|
probably null |
Het |
| Cfap77 |
A |
T |
2: 28,874,446 (GRCm39) |
V128D |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Dcdc2b |
T |
C |
4: 129,504,104 (GRCm39) |
|
probably null |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,820,689 (GRCm39) |
Y455H |
probably damaging |
Het |
| Frmpd1 |
C |
A |
4: 45,284,899 (GRCm39) |
S1240* |
probably null |
Het |
| Gypa |
T |
A |
8: 81,227,560 (GRCm39) |
H69Q |
unknown |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mroh7 |
C |
T |
4: 106,560,381 (GRCm39) |
G641E |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,230,864 (GRCm39) |
N370K |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rfc4 |
G |
T |
16: 22,934,178 (GRCm39) |
Q208K |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Sirpb1c |
G |
T |
3: 15,892,922 (GRCm39) |
T94K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,828,770 (GRCm39) |
N1136K |
probably damaging |
Het |
| Spp2 |
T |
A |
1: 88,348,402 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,819 (GRCm39) |
H134R |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,722 (GRCm39) |
R698G |
probably benign |
Het |
|
| Other mutations in 4931429L15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:4931429L15Rik
|
APN |
9 |
46,220,250 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01649:4931429L15Rik
|
APN |
9 |
46,217,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0094:4931429L15Rik
|
UTSW |
9 |
46,218,184 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1496:4931429L15Rik
|
UTSW |
9 |
46,221,552 (GRCm39) |
unclassified |
probably benign |
|
|
R1971:4931429L15Rik
|
UTSW |
9 |
46,220,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2139:4931429L15Rik
|
UTSW |
9 |
46,215,593 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4078:4931429L15Rik
|
UTSW |
9 |
46,215,359 (GRCm39) |
nonsense |
probably null |
|
|
R4780:4931429L15Rik
|
UTSW |
9 |
46,220,144 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5088:4931429L15Rik
|
UTSW |
9 |
46,217,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5138:4931429L15Rik
|
UTSW |
9 |
46,218,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5419:4931429L15Rik
|
UTSW |
9 |
46,220,624 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5734:4931429L15Rik
|
UTSW |
9 |
46,215,303 (GRCm39) |
unclassified |
probably benign |
|
|
R5739:4931429L15Rik
|
UTSW |
9 |
46,220,717 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5907:4931429L15Rik
|
UTSW |
9 |
46,218,120 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6127:4931429L15Rik
|
UTSW |
9 |
46,220,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:4931429L15Rik
|
UTSW |
9 |
46,218,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7556:4931429L15Rik
|
UTSW |
9 |
46,221,611 (GRCm39) |
nonsense |
probably null |
|
|
R7818:4931429L15Rik
|
UTSW |
9 |
46,215,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8894:4931429L15Rik
|
UTSW |
9 |
46,216,397 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8962:4931429L15Rik
|
UTSW |
9 |
46,220,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:4931429L15Rik
|
UTSW |
9 |
46,220,267 (GRCm39) |
small deletion |
probably benign |
|
|
Z1177:4931429L15Rik
|
UTSW |
9 |
46,217,136 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
|
| Posted On |
2013-08-06 |
Incidental Mutation