Incidental Mutation 'R4682:Rlig1'
| ID |
350084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rlig1
|
| Ensembl Gene |
ENSMUSG00000046567 |
| Gene Name |
RNA 5'-phosphate and 3'-OH ligase 1 |
| Synonyms |
4930430F08Rik |
| MMRRC Submission |
041934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R4682 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
100408136-100425252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100414243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 139
(I139V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152035
(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: I119V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| 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
AA Change: I139V
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219995
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219790
|
| Meta Mutation Damage Score |
0.0736 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (45/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
| Aurkc |
G |
A |
7: 6,998,538 (GRCm39) |
V33M |
probably null |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
| Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
| Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
| Grhl1 |
T |
G |
12: 24,658,432 (GRCm39) |
V359G |
probably benign |
Het |
| Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,659,800 (GRCm39) |
A279S |
probably damaging |
Het |
| Mad1l1 |
A |
T |
5: 140,286,007 (GRCm39) |
M296K |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
A |
7: 100,198,576 (GRCm39) |
D192V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,108,879 (GRCm39) |
T731A |
noncoding transcript |
Het |
| Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
| Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
| Slc36a4 |
C |
A |
9: 15,638,144 (GRCm39) |
S190* |
probably null |
Het |
| Slc46a1 |
A |
G |
11: 78,359,502 (GRCm39) |
K378R |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
| Traf7 |
T |
C |
17: 24,732,348 (GRCm39) |
K159E |
probably damaging |
Het |
| Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
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 |
|
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 |
|
R6716:Rlig1
|
UTSW |
10 |
100,409,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ACAAGTCGCTCTAAGCAATATCTG -3'
(R):5'- AGACGGTAGTGTGCAACGTG -3'
Sequencing Primer
(F):5'- GTCGCTCTAAGCAATATCTGATAAAG -3'
(R):5'- CAACGTGGTAGTGTACTAAAAGTTGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation