Incidental Mutation 'R6144:Rigi'
| ID |
488725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rigi
|
| Ensembl Gene |
ENSMUSG00000040296 |
| Gene Name |
RNA sensor RIG-I |
| Synonyms |
RIG-I, DEAD (Asp-Glu-Ala-Asp) box polypeptide 58, Ddx58, 6430573D20Rik |
| MMRRC Submission |
044291-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R6144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
40203773-40239828 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40229551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 78
(I78V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037907]
[ENSMUST00000142055]
|
| AlphaFold |
Q6Q899 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037907
AA Change: I123V
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000042433
Gene: ENSMUSG00000040296
AA Change: I123V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARD_2
|
1 |
93 |
1.2e-31 |
PFAM |
|
Pfam:CARD_2
|
99 |
189 |
6.2e-28 |
PFAM |
|
DEXDc
|
240 |
453 |
8.61e-26 |
SMART |
|
low complexity region
|
582 |
600 |
N/A |
INTRINSIC |
|
HELICc
|
642 |
735 |
1.32e-12 |
SMART |
|
Pfam:RIG-I_C-RD
|
807 |
924 |
4.4e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139110
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139583
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142055
AA Change: I78V
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115052
Gene: ENSMUSG00000040296
AA Change: I78V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4NQK|D
|
1 |
153 |
3e-53 |
PDB |
|
DEXDc
|
195 |
408 |
8.61e-26 |
SMART |
|
low complexity region
|
537 |
555 |
N/A |
INTRINSIC |
|
HELICc
|
597 |
690 |
1.32e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149539
|
| Meta Mutation Damage Score |
0.0702 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (65/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a null allele die in utero with liver apoptosis while survivors show impaired IFN induction and succumb to infection with certain RNA viruses. Homozygotes for another null allele are viable but develop colitis and progressive granulocytosis leading to chronic myeloid leukemia. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted, knock-out(2) Gene trapped(7) |
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3300002I08Rik |
A |
T |
2: 150,186,564 (GRCm39) |
D40E |
possibly damaging |
Het |
| 4921517D22Rik |
C |
T |
13: 59,837,347 (GRCm39) |
R246H |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,832 (GRCm39) |
T203A |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,600,056 (GRCm39) |
D2096E |
probably damaging |
Het |
| Ankrd53 |
T |
C |
6: 83,739,639 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
C |
A |
18: 38,118,486 (GRCm39) |
G814C |
probably damaging |
Het |
| Armc9 |
T |
G |
1: 86,172,301 (GRCm39) |
I5S |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,910,120 (GRCm39) |
T74A |
probably damaging |
Het |
| Cdca7l |
T |
A |
12: 117,837,446 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
T |
A |
1: 139,733,153 (GRCm39) |
|
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,288,955 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,803,148 (GRCm39) |
R2149C |
unknown |
Het |
| Cpa4 |
T |
C |
6: 30,585,082 (GRCm39) |
S289P |
probably damaging |
Het |
| Cpsf3 |
G |
A |
12: 21,356,887 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
T |
C |
2: 91,822,350 (GRCm39) |
H212R |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2c29 |
A |
G |
19: 39,310,053 (GRCm39) |
D254G |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,008,993 (GRCm39) |
H232R |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,101,105 (GRCm39) |
L1216P |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,529,476 (GRCm39) |
I307T |
possibly damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,435 (GRCm39) |
S141G |
unknown |
Het |
| Evl |
A |
C |
12: 108,619,290 (GRCm39) |
K101T |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,284,328 (GRCm39) |
G470R |
probably benign |
Het |
| Flg |
A |
T |
3: 93,190,515 (GRCm39) |
|
probably benign |
Het |
| Gm45704 |
T |
A |
8: 73,510,920 (GRCm39) |
|
|
Het |
| Grm1 |
T |
C |
10: 10,955,640 (GRCm39) |
M215V |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,345,994 (GRCm39) |
D210G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
| Hrc |
A |
T |
7: 44,986,157 (GRCm39) |
H436L |
possibly damaging |
Het |
| Hycc1 |
T |
C |
5: 24,171,367 (GRCm39) |
S352G |
possibly damaging |
Het |
| Ido1 |
T |
A |
8: 25,075,306 (GRCm39) |
T259S |
possibly damaging |
Het |
| Itgb7 |
C |
A |
15: 102,131,917 (GRCm39) |
R222L |
probably benign |
Het |
| Khnyn |
T |
C |
14: 56,125,296 (GRCm39) |
V485A |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,826 (GRCm39) |
V100A |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,794 (GRCm39) |
M50T |
probably damaging |
Het |
| Map3k6 |
T |
G |
4: 132,972,986 (GRCm39) |
W382G |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,501,478 (GRCm39) |
F922I |
possibly damaging |
Het |
| Mrap2 |
T |
C |
9: 87,057,871 (GRCm39) |
V53A |
probably damaging |
Het |
| Mrps7 |
C |
A |
11: 115,495,000 (GRCm39) |
A5E |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,587,298 (GRCm39) |
N2713S |
possibly damaging |
Het |
| Nckipsd |
T |
C |
9: 108,689,585 (GRCm39) |
S249P |
probably damaging |
Het |
| Neil3 |
T |
C |
8: 54,052,447 (GRCm39) |
T384A |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,787,399 (GRCm39) |
I504K |
probably damaging |
Het |
| Nudt13 |
A |
G |
14: 20,357,839 (GRCm39) |
N107S |
probably benign |
Het |
| Or11h4b |
C |
A |
14: 50,918,392 (GRCm39) |
R233L |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,116 (GRCm39) |
L47H |
probably damaging |
Het |
| Or5c1 |
T |
A |
2: 37,222,125 (GRCm39) |
M122K |
probably damaging |
Het |
| Otub1 |
G |
T |
19: 7,176,518 (GRCm39) |
Y205* |
probably null |
Het |
| Pals1 |
T |
C |
12: 78,871,563 (GRCm39) |
V381A |
possibly damaging |
Het |
| Pierce2 |
C |
A |
9: 72,887,270 (GRCm39) |
C79F |
probably damaging |
Het |
| Plpp7 |
T |
A |
2: 31,986,100 (GRCm39) |
S93T |
probably damaging |
Het |
| Pxk |
T |
G |
14: 8,138,011 (GRCm38) |
Y188D |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,603,128 (GRCm39) |
C602* |
probably null |
Het |
| Sbds |
T |
C |
5: 130,275,185 (GRCm39) |
K248E |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,595,092 (GRCm39) |
N42K |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,966,797 (GRCm39) |
L368P |
probably damaging |
Het |
| Srrm1 |
T |
C |
4: 135,065,184 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,614,533 (GRCm39) |
V288I |
probably benign |
Het |
| Tas2r107 |
C |
A |
6: 131,636,966 (GRCm39) |
A28S |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,037,155 (GRCm39) |
I268T |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,097,437 (GRCm39) |
F495L |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,740 (GRCm38) |
L1434P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,697,005 (GRCm39) |
|
probably null |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,761 (GRCm39) |
E17V |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,719,886 (GRCm39) |
L819Q |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,914 (GRCm39) |
T582A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,299,193 (GRCm39) |
S558P |
probably damaging |
Het |
|
| Other mutations in Rigi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Rigi
|
APN |
4 |
40,220,389 (GRCm39) |
splice site |
probably benign |
|
|
IGL01344:Rigi
|
APN |
4 |
40,208,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01414:Rigi
|
APN |
4 |
40,222,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01529:Rigi
|
APN |
4 |
40,225,685 (GRCm39) |
missense |
probably benign |
|
|
IGL01756:Rigi
|
APN |
4 |
40,209,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02023:Rigi
|
APN |
4 |
40,216,487 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02223:Rigi
|
APN |
4 |
40,209,993 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02458:Rigi
|
APN |
4 |
40,229,536 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02937:Rigi
|
APN |
4 |
40,229,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03358:Rigi
|
APN |
4 |
40,206,069 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
E2594:Rigi
|
UTSW |
4 |
40,235,282 (GRCm39) |
nonsense |
probably null |
|
|
R0324:Rigi
|
UTSW |
4 |
40,213,766 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0400:Rigi
|
UTSW |
4 |
40,235,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0518:Rigi
|
UTSW |
4 |
40,216,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0834:Rigi
|
UTSW |
4 |
40,239,596 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1474:Rigi
|
UTSW |
4 |
40,208,868 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1611:Rigi
|
UTSW |
4 |
40,223,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Rigi
|
UTSW |
4 |
40,224,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1906:Rigi
|
UTSW |
4 |
40,206,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2072:Rigi
|
UTSW |
4 |
40,224,069 (GRCm39) |
splice site |
probably null |
|
|
R4696:Rigi
|
UTSW |
4 |
40,203,798 (GRCm39) |
unclassified |
probably benign |
|
|
R4860:Rigi
|
UTSW |
4 |
40,210,000 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4860:Rigi
|
UTSW |
4 |
40,210,000 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5027:Rigi
|
UTSW |
4 |
40,208,845 (GRCm39) |
missense |
probably benign |
|
|
R5568:Rigi
|
UTSW |
4 |
40,222,140 (GRCm39) |
missense |
probably benign |
|
|
R6341:Rigi
|
UTSW |
4 |
40,222,199 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6373:Rigi
|
UTSW |
4 |
40,216,487 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6454:Rigi
|
UTSW |
4 |
40,220,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6456:Rigi
|
UTSW |
4 |
40,213,838 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6523:Rigi
|
UTSW |
4 |
40,205,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6593:Rigi
|
UTSW |
4 |
40,226,651 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6741:Rigi
|
UTSW |
4 |
40,211,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Rigi
|
UTSW |
4 |
40,225,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7149:Rigi
|
UTSW |
4 |
40,222,079 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7159:Rigi
|
UTSW |
4 |
40,213,804 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7237:Rigi
|
UTSW |
4 |
40,205,938 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7352:Rigi
|
UTSW |
4 |
40,239,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7356:Rigi
|
UTSW |
4 |
40,226,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7611:Rigi
|
UTSW |
4 |
40,225,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Rigi
|
UTSW |
4 |
40,229,653 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7729:Rigi
|
UTSW |
4 |
40,206,034 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7759:Rigi
|
UTSW |
4 |
40,225,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Rigi
|
UTSW |
4 |
40,211,618 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7965:Rigi
|
UTSW |
4 |
40,223,824 (GRCm39) |
nonsense |
probably null |
|
|
R7976:Rigi
|
UTSW |
4 |
40,209,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Rigi
|
UTSW |
4 |
40,225,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8978:Rigi
|
UTSW |
4 |
40,239,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8994:Rigi
|
UTSW |
4 |
40,205,941 (GRCm39) |
nonsense |
probably null |
|
|
R9052:Rigi
|
UTSW |
4 |
40,208,459 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9164:Rigi
|
UTSW |
4 |
40,208,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9394:Rigi
|
UTSW |
4 |
40,213,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9431:Rigi
|
UTSW |
4 |
40,229,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9645:Rigi
|
UTSW |
4 |
40,220,437 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGCTAGATGAGAGCTTTTATGG -3'
(R):5'- CCCTTGCCACTGATTTGAAC -3'
Sequencing Primer
(F):5'- GGTTTCAATTATCCTTGGGCC -3'
(R):5'- GCCACTGATTTGAACAGGATTCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation