Incidental Mutation 'IGL00981:4930503L19Rik'
| ID |
29469 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4930503L19Rik
|
| Ensembl Gene |
ENSMUSG00000044906 |
| Gene Name |
RIKEN cDNA 4930503L19 gene |
| Synonyms |
Las2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL00981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
70585283-70605580 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 70586404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 478
(Q478*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067556]
[ENSMUST00000211817]
[ENSMUST00000212074]
[ENSMUST00000212155]
[ENSMUST00000212539]
[ENSMUST00000212683]
[ENSMUST00000212982]
|
| AlphaFold |
Q8CB14 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067556
AA Change: Q522*
|
| SMART Domains |
Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906
AA Change: Q522*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
40 |
N/A |
INTRINSIC |
|
Pfam:LAS2
|
161 |
235 |
2.8e-26 |
PFAM |
|
Pfam:LAS2
|
325 |
387 |
9.2e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211817
AA Change: Q254*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212074
AA Change: Q353*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212155
AA Change: Q478*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213066
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh4 |
A |
T |
14: 50,010,447 (GRCm39) |
L420Q |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,517,543 (GRCm39) |
|
probably null |
Het |
| Bcan |
T |
A |
3: 87,905,139 (GRCm39) |
I2F |
possibly damaging |
Het |
| Boc |
A |
G |
16: 44,312,164 (GRCm39) |
S633P |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,117,104 (GRCm39) |
S130P |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,275,182 (GRCm39) |
F490L |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,498,490 (GRCm39) |
D469E |
possibly damaging |
Het |
| Cdyl |
A |
T |
13: 36,000,096 (GRCm39) |
S126C |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,479,458 (GRCm39) |
I192F |
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,635,925 (GRCm39) |
E515K |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,755,049 (GRCm39) |
D1044E |
unknown |
Het |
| Eif3i |
T |
A |
4: 129,488,862 (GRCm39) |
Y125F |
probably benign |
Het |
| Gnai1 |
T |
G |
5: 18,472,045 (GRCm39) |
N346T |
probably benign |
Het |
| Kcnd1 |
C |
T |
X: 7,702,672 (GRCm39) |
T629I |
probably benign |
Het |
| Mcc |
A |
T |
18: 44,582,416 (GRCm39) |
N578K |
probably damaging |
Het |
| Ncoa6 |
C |
T |
2: 155,248,099 (GRCm39) |
R1735Q |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,116,021 (GRCm39) |
|
noncoding transcript |
Het |
| Nsun5 |
A |
T |
5: 135,404,249 (GRCm39) |
Q352L |
possibly damaging |
Het |
| Or14j6 |
G |
A |
17: 38,215,072 (GRCm39) |
V212M |
probably benign |
Het |
| Or2d2b |
C |
A |
7: 106,705,268 (GRCm39) |
E267* |
probably null |
Het |
| Or2d2b |
T |
A |
7: 106,705,269 (GRCm39) |
K266N |
probably benign |
Het |
| Or8g18 |
A |
G |
9: 39,148,901 (GRCm39) |
V276A |
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,703,857 (GRCm39) |
G693D |
probably damaging |
Het |
| Rpl10a-ps2 |
A |
T |
13: 8,990,566 (GRCm39) |
|
probably benign |
Het |
| Spink1 |
C |
T |
18: 43,870,159 (GRCm39) |
|
probably null |
Het |
| Sqle |
T |
C |
15: 59,198,468 (GRCm39) |
V464A |
probably damaging |
Het |
| Trav6-4 |
A |
T |
14: 53,692,153 (GRCm39) |
T84S |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,259,311 (GRCm39) |
|
probably benign |
Het |
| Txlng |
T |
C |
X: 161,567,368 (GRCm39) |
M319V |
probably benign |
Het |
| Wee1 |
A |
T |
7: 109,738,876 (GRCm39) |
E582D |
probably damaging |
Het |
|
| Other mutations in 4930503L19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01549:4930503L19Rik
|
APN |
18 |
70,601,106 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0119:4930503L19Rik
|
UTSW |
18 |
70,602,553 (GRCm39) |
nonsense |
probably null |
|
|
R0299:4930503L19Rik
|
UTSW |
18 |
70,602,553 (GRCm39) |
nonsense |
probably null |
|
|
R0554:4930503L19Rik
|
UTSW |
18 |
70,600,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0657:4930503L19Rik
|
UTSW |
18 |
70,602,553 (GRCm39) |
nonsense |
probably null |
|
|
R0973:4930503L19Rik
|
UTSW |
18 |
70,600,997 (GRCm39) |
splice site |
probably null |
|
|
R0973:4930503L19Rik
|
UTSW |
18 |
70,600,997 (GRCm39) |
splice site |
probably null |
|
|
R0974:4930503L19Rik
|
UTSW |
18 |
70,600,997 (GRCm39) |
splice site |
probably null |
|
|
R1710:4930503L19Rik
|
UTSW |
18 |
70,601,134 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2046:4930503L19Rik
|
UTSW |
18 |
70,600,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2361:4930503L19Rik
|
UTSW |
18 |
70,602,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2936:4930503L19Rik
|
UTSW |
18 |
70,601,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5266:4930503L19Rik
|
UTSW |
18 |
70,591,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:4930503L19Rik
|
UTSW |
18 |
70,601,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:4930503L19Rik
|
UTSW |
18 |
70,600,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:4930503L19Rik
|
UTSW |
18 |
70,601,547 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8233:4930503L19Rik
|
UTSW |
18 |
70,602,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9658:4930503L19Rik
|
UTSW |
18 |
70,600,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation