Incidental Mutation 'R8233:4930503L19Rik'
| ID |
637240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930503L19Rik
|
| Ensembl Gene |
ENSMUSG00000044906 |
| Gene Name |
RIKEN cDNA 4930503L19 gene |
| Synonyms |
Las2 |
| MMRRC Submission |
067665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8233 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
70585283-70605580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70602687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 42
(V42E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067556]
[ENSMUST00000114959]
[ENSMUST00000164223]
[ENSMUST00000168249]
[ENSMUST00000173951]
[ENSMUST00000174118]
[ENSMUST00000174667]
[ENSMUST00000211817]
[ENSMUST00000212074]
[ENSMUST00000212155]
[ENSMUST00000212539]
[ENSMUST00000212683]
[ENSMUST00000212982]
|
| AlphaFold |
Q8CB14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067556
AA Change: V42E
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906
AA Change: V42E
| 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 |
unknown
Transcript: ENSMUST00000211817
AA Change: V42E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212074
AA Change: V42E
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212155
AA Change: V42E
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212539
AA Change: V42E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212683
AA Change: V42E
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212982
AA Change: V42E
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,390,916 (GRCm39) |
E153G |
probably benign |
Het |
| Adamts20 |
A |
C |
15: 94,189,533 (GRCm39) |
I1440S |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,385,042 (GRCm39) |
S229T |
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,742,680 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
T |
3: 100,900,989 (GRCm39) |
H1032N |
unknown |
Het |
| Col6a2 |
A |
G |
10: 76,444,540 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
T |
5: 9,026,027 (GRCm39) |
I320K |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,772,588 (GRCm39) |
D602E |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,107,160 (GRCm39) |
V69A |
probably benign |
Het |
| Dgkz |
A |
G |
2: 91,769,994 (GRCm39) |
S557P |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,405,055 (GRCm39) |
L602Q |
|
Het |
| Gli2 |
A |
T |
1: 118,772,167 (GRCm39) |
Y513N |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,983 (GRCm39) |
T202A |
probably benign |
Het |
| Hnrnpa3 |
A |
G |
2: 75,492,860 (GRCm39) |
N195D |
probably benign |
Het |
| Ifna1 |
C |
T |
4: 88,768,628 (GRCm39) |
T102I |
possibly damaging |
Het |
| Igfbp3 |
T |
A |
11: 7,160,152 (GRCm39) |
H167L |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,895,782 (GRCm39) |
T1595A |
probably benign |
Het |
| Krt14 |
A |
G |
11: 100,094,178 (GRCm39) |
V472A |
probably damaging |
Het |
| Lrrc74b |
T |
A |
16: 17,376,089 (GRCm39) |
H187L |
probably benign |
Het |
| Magoh |
T |
G |
4: 107,738,132 (GRCm39) |
V44G |
possibly damaging |
Het |
| Mbnl1 |
A |
T |
3: 60,532,551 (GRCm39) |
I274L |
probably benign |
Het |
| Or13a27 |
T |
G |
7: 139,925,411 (GRCm39) |
M164L |
probably benign |
Het |
| Or4c108 |
C |
T |
2: 88,804,082 (GRCm39) |
R51H |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,967,142 (GRCm39) |
V252A |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,317 (GRCm39) |
D107G |
possibly damaging |
Het |
| Polr2m |
T |
A |
9: 71,390,866 (GRCm39) |
D112V |
probably benign |
Het |
| Ptprn |
A |
T |
1: 75,229,796 (GRCm39) |
M701K |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,879 (GRCm39) |
D421G |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,078,355 (GRCm39) |
E381G |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,661,341 (GRCm39) |
I530T |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,341 (GRCm39) |
H122R |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,998,427 (GRCm39) |
E1031G |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,181 (GRCm39) |
T553A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,609,086 (GRCm39) |
W217R |
unknown |
Het |
| Tyrp1 |
T |
C |
4: 80,769,190 (GRCm39) |
V161A |
unknown |
Het |
| Usp29 |
T |
A |
7: 6,965,406 (GRCm39) |
F416L |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,781,736 (GRCm39) |
V34A |
probably benign |
Het |
| Vmn1r119 |
A |
G |
7: 20,745,932 (GRCm39) |
V150A |
probably damaging |
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 |
|
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 |
|
R9658:4930503L19Rik
|
UTSW |
18 |
70,600,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGGCGTACCATTGTCGGG -3'
(R):5'- TCCAGTGCTTATGTCGGATTATC -3'
Sequencing Primer
(F):5'- ACCATTGTCGGGTATATGTACGTAGC -3'
(R):5'- GCCTATCATCACTATTCATTGGCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation