Incidental Mutation 'R6716:Rlig1'
| ID |
529404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rlig1
|
| Ensembl Gene |
ENSMUSG00000046567 |
| Gene Name |
RNA 5'-phosphate and 3'-OH ligase 1 |
| Synonyms |
4930430F08Rik |
| MMRRC Submission |
044834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R6716 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
100408136-100425252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 100409478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 312
(I312L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054471]
[ENSMUST00000164751]
[ENSMUST00000218821]
[ENSMUST00000219765]
[ENSMUST00000220346]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054471
AA Change: I312L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164751
|
| SMART Domains |
Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
59 |
298 |
N/A |
INTRINSIC |
|
coiled coil region
|
319 |
566 |
N/A |
INTRINSIC |
|
coiled coil region
|
598 |
662 |
N/A |
INTRINSIC |
|
coiled coil region
|
697 |
754 |
N/A |
INTRINSIC |
|
coiled coil region
|
780 |
875 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
884 |
894 |
1.1e-5 |
PROSPERO |
|
coiled coil region
|
986 |
1028 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1057 |
1067 |
1.1e-5 |
PROSPERO |
|
coiled coil region
|
1071 |
1109 |
N/A |
INTRINSIC |
|
low complexity region
|
1140 |
1156 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1176 |
1206 |
8.72e-8 |
PROSPERO |
|
coiled coil region
|
1221 |
1250 |
N/A |
INTRINSIC |
|
Pfam:CEP209_CC5
|
1290 |
1417 |
3.8e-55 |
PFAM |
|
low complexity region
|
1476 |
1493 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1498 |
1525 |
8.72e-8 |
PROSPERO |
|
coiled coil region
|
1535 |
1595 |
N/A |
INTRINSIC |
|
coiled coil region
|
1624 |
1716 |
N/A |
INTRINSIC |
|
coiled coil region
|
1776 |
2328 |
N/A |
INTRINSIC |
|
low complexity region
|
2333 |
2347 |
N/A |
INTRINSIC |
|
coiled coil region
|
2377 |
2453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218156
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218821
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219765
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219889
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,682 (GRCm39) |
A376T |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,910,943 (GRCm39) |
I296T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,501,370 (GRCm39) |
I409N |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,830,565 (GRCm39) |
T4310S |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,379,130 (GRCm39) |
S122P |
probably damaging |
Het |
| Krt20 |
T |
C |
11: 99,322,754 (GRCm39) |
T294A |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,402,231 (GRCm39) |
S635N |
probably damaging |
Het |
| Nphs2 |
A |
G |
1: 156,148,637 (GRCm39) |
S242G |
probably benign |
Het |
| Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,210,031 (GRCm39) |
S1028R |
probably damaging |
Het |
| Sec23a |
C |
T |
12: 59,015,609 (GRCm39) |
G711D |
probably benign |
Het |
| Slc50a1 |
T |
C |
3: 89,177,214 (GRCm39) |
T68A |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,339,949 (GRCm39) |
|
probably null |
Het |
| Tas2r122 |
A |
T |
6: 132,688,860 (GRCm39) |
I11N |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,290,516 (GRCm39) |
R782C |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,858,749 (GRCm39) |
L2733P |
probably benign |
Het |
| Vtn |
C |
T |
11: 78,391,052 (GRCm39) |
R211C |
probably damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,266,571 (GRCm39) |
|
probably null |
Het |
| Zc2hc1b |
T |
C |
10: 13,047,027 (GRCm39) |
D28G |
probably damaging |
Het |
|
| Other mutations in Rlig1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:Rlig1
|
APN |
10 |
100,409,473 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01775:Rlig1
|
APN |
10 |
100,419,799 (GRCm39) |
missense |
probably benign |
0.41 |
|
PIT4495001:Rlig1
|
UTSW |
10 |
100,419,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Rlig1
|
UTSW |
10 |
100,422,056 (GRCm39) |
nonsense |
probably null |
|
|
R0731:Rlig1
|
UTSW |
10 |
100,422,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Rlig1
|
UTSW |
10 |
100,413,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Rlig1
|
UTSW |
10 |
100,419,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4680:Rlig1
|
UTSW |
10 |
100,414,243 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4682:Rlig1
|
UTSW |
10 |
100,414,243 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4683:Rlig1
|
UTSW |
10 |
100,414,243 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4708:Rlig1
|
UTSW |
10 |
100,414,243 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4709:Rlig1
|
UTSW |
10 |
100,414,243 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4742:Rlig1
|
UTSW |
10 |
100,414,243 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4743:Rlig1
|
UTSW |
10 |
100,414,243 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7185:Rlig1
|
UTSW |
10 |
100,425,073 (GRCm39) |
start gained |
probably benign |
|
|
R8103:Rlig1
|
UTSW |
10 |
100,413,110 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTATACAGTGCACAATGAGCTATG -3'
(R):5'- GTTACGATGCTGTTTTCGACTAAAG -3'
Sequencing Primer
(F):5'- TGTGTTAAGATAGTCAAATCCTAACG -3'
(R):5'- TGCTGTTTTCGACTAAAGTTAATACC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation