Incidental Mutation 'R0657:4930503L19Rik'
| ID |
62589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930503L19Rik
|
| Ensembl Gene |
ENSMUSG00000044906 |
| Gene Name |
RIKEN cDNA 4930503L19 gene |
| Synonyms |
Las2 |
| MMRRC Submission |
038842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R0657 (G1)
|
| Quality Score |
114 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
70585283-70605580 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 70602553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 87
(Q87*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067556]
[ENSMUST00000114959]
[ENSMUST00000164223]
[ENSMUST00000168249]
[ENSMUST00000173951]
[ENSMUST00000174118]
[ENSMUST00000174667]
[ENSMUST00000212982]
[ENSMUST00000212539]
[ENSMUST00000212155]
[ENSMUST00000212683]
[ENSMUST00000212074]
[ENSMUST00000211817]
|
| AlphaFold |
Q8CB14 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067556
AA Change: Q87*
|
| SMART Domains |
Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906
AA Change: Q87*
| 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 benign
Transcript: ENSMUST00000114959
|
| SMART Domains |
Protein: ENSMUSP00000110609
Gene: ENSMUSG00000079608
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164223
|
| SMART Domains |
Protein: ENSMUSP00000126055
Gene: ENSMUSG00000079608
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168249
|
| SMART Domains |
Protein: ENSMUSP00000130991
Gene: ENSMUSG00000079608
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173951
|
| SMART Domains |
Protein: ENSMUSP00000134211
Gene: ENSMUSG00000079608
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:START
|
1 |
54 |
8e-18 |
BLAST |
|
PDB:2MOU|A
|
1 |
54 |
3e-17 |
PDB |
|
SCOP:d1em2a_
|
1 |
54 |
2e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174118
|
| SMART Domains |
Protein: ENSMUSP00000134511
Gene: ENSMUSG00000079608
| Domain | Start | End | E-Value | Type |
|---|
|
START
|
6 |
208 |
8.76e-16 |
SMART |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174667
|
| SMART Domains |
Protein: ENSMUSP00000133956
Gene: ENSMUSG00000079608
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:START
|
4 |
98 |
9.6e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212982
AA Change: Q87*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212539
AA Change: Q87*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212155
AA Change: Q87*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212683
AA Change: Q87*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212074
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211817
|
| Meta Mutation Damage Score |
0.9652 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.3%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
C |
T |
18: 56,670,269 (GRCm39) |
|
probably benign |
Het |
| Bfsp1 |
A |
C |
2: 143,669,570 (GRCm39) |
|
probably benign |
Het |
| Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,753,141 (GRCm39) |
V546A |
probably damaging |
Het |
| Defb13 |
T |
C |
8: 22,436,877 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
A |
T |
13: 37,152,079 (GRCm39) |
D237E |
probably damaging |
Het |
| F8 |
T |
C |
X: 74,255,022 (GRCm39) |
Q2124R |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,622 (GRCm39) |
S1407P |
probably benign |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,369 (GRCm39) |
T91A |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,702,924 (GRCm39) |
I3463T |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,855,995 (GRCm39) |
Y289H |
probably damaging |
Het |
| Ints8 |
C |
A |
4: 11,246,097 (GRCm39) |
V190L |
probably benign |
Het |
| Itgb1 |
T |
G |
8: 129,449,335 (GRCm39) |
Y585D |
possibly damaging |
Het |
| Kif14 |
C |
T |
1: 136,396,840 (GRCm39) |
T382I |
probably benign |
Het |
| Lypd10 |
T |
A |
7: 24,412,872 (GRCm39) |
D93E |
probably benign |
Het |
| Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
| Mgat4b |
T |
C |
11: 50,121,908 (GRCm39) |
V143A |
possibly damaging |
Het |
| Mroh2a |
C |
A |
1: 88,183,287 (GRCm39) |
L1292I |
probably damaging |
Het |
| Nek8 |
C |
T |
11: 78,062,033 (GRCm39) |
S237N |
probably benign |
Het |
| Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
| Nfatc2ip |
A |
G |
7: 125,990,507 (GRCm39) |
S165P |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,611 (GRCm39) |
M196V |
probably benign |
Het |
| Or1e34 |
C |
T |
11: 73,778,656 (GRCm39) |
V181I |
probably benign |
Het |
| Patj |
C |
A |
4: 98,555,885 (GRCm39) |
Q297K |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,542,107 (GRCm39) |
N199S |
probably damaging |
Het |
| Pip4k2b |
A |
T |
11: 97,613,762 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
G |
13: 63,661,565 (GRCm39) |
V1054A |
possibly damaging |
Het |
| Slc17a5 |
G |
A |
9: 78,485,956 (GRCm39) |
A43V |
probably damaging |
Het |
| Spata20 |
T |
A |
11: 94,371,435 (GRCm39) |
D643V |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,655,869 (GRCm39) |
V289E |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,890 (GRCm39) |
I384N |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,736,771 (GRCm39) |
M816I |
probably benign |
Het |
| Ulk2 |
T |
C |
11: 61,698,880 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,712,677 (GRCm39) |
V199A |
probably benign |
Het |
|
| Other mutations in 4930503L19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:4930503L19Rik
|
APN |
18 |
70,586,404 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGCCACAGGAAATGGCTGC -3'
(R):5'- ACAAAGCTCAGGGGTTGTTCTCAAG -3'
Sequencing Primer
(F):5'- CTGTGTCTTCTCCAAGGACAAAAG -3'
(R):5'- GTTGTTCTCAAGAGTCTTCAGTATC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation