Incidental Mutation 'IGL01649:4931429L15Rik'
| ID |
102772 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4931429L15Rik
|
| Ensembl Gene |
ENSMUSG00000056617 |
| Gene Name |
RIKEN cDNA 4931429L15 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01649
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
46214659-46231284 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46217116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 220
(S220P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159565]
[ENSMUST00000160795]
[ENSMUST00000172280]
|
| AlphaFold |
E9PVU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159565
AA Change: S220P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617
AA Change: S220P
| 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 |
probably benign
Transcript: ENSMUST00000172280
AA Change: S220P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128017
Gene: ENSMUSG00000056617
AA Change: S220P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,104,912 (GRCm39) |
N634S |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,491,211 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,911,541 (GRCm39) |
S1518G |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,617,226 (GRCm39) |
V341A |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,188,759 (GRCm39) |
V1721A |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,809,553 (GRCm39) |
I274F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,379,139 (GRCm39) |
L622Q |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,176,821 (GRCm39) |
D1960G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,015 (GRCm39) |
T503A |
possibly damaging |
Het |
| Glb1 |
A |
G |
9: 114,253,016 (GRCm39) |
Y73C |
probably damaging |
Het |
| Gm9396 |
G |
T |
3: 129,862,268 (GRCm39) |
|
noncoding transcript |
Het |
| Gml2 |
G |
T |
15: 74,696,070 (GRCm39) |
E155* |
probably null |
Het |
| Ikzf4 |
G |
A |
10: 128,471,689 (GRCm39) |
R323C |
probably damaging |
Het |
| Kiz |
A |
G |
2: 146,731,229 (GRCm39) |
T240A |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,477,351 (GRCm39) |
K480E |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,167,698 (GRCm39) |
H105R |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,221,870 (GRCm39) |
L1464P |
probably damaging |
Het |
| Mrgpra9 |
A |
C |
7: 46,884,900 (GRCm39) |
L256V |
probably benign |
Het |
| Mrpl40 |
T |
C |
16: 18,691,329 (GRCm39) |
Q127R |
probably benign |
Het |
| Myom2 |
G |
T |
8: 15,163,755 (GRCm39) |
R1003L |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,225,477 (GRCm39) |
T1806A |
probably damaging |
Het |
| Or10x4 |
T |
C |
1: 174,218,974 (GRCm39) |
L113P |
probably damaging |
Het |
| Pibf1 |
A |
T |
14: 99,425,199 (GRCm39) |
Y562F |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,044,921 (GRCm39) |
|
probably benign |
Het |
| Ppm1n |
A |
T |
7: 19,012,122 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
A |
G |
7: 18,550,727 (GRCm39) |
V376A |
possibly damaging |
Het |
| Septin8 |
T |
A |
11: 53,425,855 (GRCm39) |
F143I |
possibly damaging |
Het |
| Sestd1 |
A |
G |
2: 77,029,389 (GRCm39) |
Y330H |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,752,193 (GRCm39) |
|
probably benign |
Het |
| Stpg2 |
C |
A |
3: 139,125,623 (GRCm39) |
P472Q |
probably damaging |
Het |
| Thbs1 |
A |
G |
2: 117,945,463 (GRCm39) |
K314R |
probably benign |
Het |
| Vav3 |
T |
C |
3: 109,470,078 (GRCm39) |
Y508H |
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 |
|
R0094:4931429L15Rik
|
UTSW |
9 |
46,218,184 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation