Incidental Mutation 'R5949:Ifih1'
| ID |
472308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifih1
|
| Ensembl Gene |
ENSMUSG00000026896 |
| Gene Name |
interferon induced with helicase C domain 1 |
| Synonyms |
MDA5, 9130009C22Rik, Helicard, MDA-5 |
| MMRRC Submission |
044139-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R5949 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
62426142-62476599 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62440904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 421
(N421D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028259]
[ENSMUST00000112459]
|
| AlphaFold |
Q8R5F7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028259
AA Change: N470D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000028259
Gene: ENSMUSG00000026896
AA Change: N470D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARD_2
|
7 |
99 |
3e-22 |
PFAM |
|
Pfam:CARD_2
|
110 |
200 |
6.8e-22 |
PFAM |
|
Pfam:CARD
|
115 |
200 |
2.6e-15 |
PFAM |
|
low complexity region
|
248 |
261 |
N/A |
INTRINSIC |
|
DEXDc
|
305 |
520 |
1.08e-26 |
SMART |
|
Blast:DEXDc
|
590 |
712 |
1e-45 |
BLAST |
|
HELICc
|
742 |
826 |
1.27e-14 |
SMART |
|
Pfam:RIG-I_C-RD
|
903 |
1018 |
4.2e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112459
AA Change: N421D
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108078
Gene: ENSMUSG00000026896
AA Change: N421D
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d3ygsp_
|
6 |
88 |
1e-3 |
SMART |
|
Pfam:CARD
|
115 |
200 |
3.9e-15 |
PFAM |
|
DEXDc
|
256 |
471 |
1.08e-26 |
SMART |
|
Blast:DEXDc
|
541 |
663 |
1e-45 |
BLAST |
|
HELICc
|
693 |
777 |
1.27e-14 |
SMART |
|
Pfam:RIG-I_C-RD
|
852 |
973 |
1.5e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176431
|
| Meta Mutation Damage Score |
0.1597 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
92% (58/63) |
| 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. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele have increased virus-associated morbidity and mortality, and decreased cytokine response to several viral infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,655,032 (GRCm39) |
Y1452C |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,367,386 (GRCm39) |
H552L |
possibly damaging |
Het |
| Alms1-ps1 |
A |
T |
6: 85,698,943 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap21 |
A |
G |
2: 20,853,852 (GRCm39) |
S1837P |
probably damaging |
Het |
| Atad5 |
G |
T |
11: 79,986,835 (GRCm39) |
E641* |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,247,242 (GRCm39) |
T276S |
probably benign |
Het |
| Bptf |
A |
G |
11: 107,001,915 (GRCm39) |
I399T |
probably damaging |
Het |
| Carf |
A |
C |
1: 60,178,472 (GRCm39) |
K295T |
probably damaging |
Het |
| Cd209d |
T |
A |
8: 3,927,949 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Cdh2 |
T |
A |
18: 16,734,687 (GRCm39) |
I779F |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,247 (GRCm39) |
R988H |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,660,887 (GRCm39) |
H600Q |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,971,730 (GRCm39) |
T487M |
probably damaging |
Het |
| Dcps |
A |
G |
9: 35,036,557 (GRCm39) |
|
probably benign |
Het |
| Ddx41 |
A |
G |
13: 55,679,874 (GRCm39) |
C427R |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,661,747 (GRCm39) |
K187E |
possibly damaging |
Het |
| Emb |
A |
G |
13: 117,403,928 (GRCm39) |
I227V |
probably benign |
Het |
| Fam193a |
T |
A |
5: 34,597,816 (GRCm39) |
S538T |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Galnt6 |
A |
T |
15: 100,594,431 (GRCm39) |
N533K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,886,147 (GRCm39) |
D499G |
probably benign |
Het |
| Ifng |
G |
C |
10: 118,278,529 (GRCm39) |
M63I |
probably benign |
Het |
| Ighv1-43 |
A |
G |
12: 114,910,002 (GRCm39) |
M1T |
probably null |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,385,476 (GRCm39) |
C299S |
probably damaging |
Het |
| Lrrn1 |
G |
T |
6: 107,544,465 (GRCm39) |
V88L |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 130,985,742 (GRCm39) |
V173A |
possibly damaging |
Het |
| Mrap2 |
T |
G |
9: 87,064,658 (GRCm39) |
V133G |
probably benign |
Het |
| Nlrp1a |
T |
A |
11: 70,989,815 (GRCm39) |
D984V |
probably damaging |
Het |
| Or4c125 |
A |
G |
2: 89,170,229 (GRCm39) |
V139A |
probably damaging |
Het |
| Or5p59 |
T |
C |
7: 107,703,404 (GRCm39) |
L296P |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,996 (GRCm39) |
Y488H |
probably damaging |
Het |
| Pih1d2 |
C |
T |
9: 50,536,284 (GRCm39) |
P313L |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,296,179 (GRCm39) |
C839R |
probably damaging |
Het |
| Rdh5 |
C |
A |
10: 128,754,136 (GRCm39) |
R29L |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,554,429 (GRCm39) |
D90G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,333,905 (GRCm39) |
Y3038C |
probably damaging |
Het |
| Sec14l2 |
A |
T |
11: 4,058,972 (GRCm39) |
V191D |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,690,759 (GRCm39) |
Y118C |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,222,934 (GRCm39) |
|
probably null |
Het |
| Stab2 |
A |
G |
10: 86,805,713 (GRCm39) |
L211P |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,038,876 (GRCm39) |
C289R |
probably benign |
Het |
| Tfpi |
T |
C |
2: 84,275,092 (GRCm39) |
E172G |
probably benign |
Het |
| Tmem106b |
T |
A |
6: 13,083,418 (GRCm39) |
M229K |
probably damaging |
Het |
| Tsfm |
G |
A |
10: 126,864,244 (GRCm39) |
T157M |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,503,992 (GRCm39) |
R310H |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,608,244 (GRCm39) |
A17893V |
possibly damaging |
Het |
| Vps39 |
A |
G |
2: 120,159,149 (GRCm39) |
Y380H |
probably benign |
Het |
| Xylt2 |
G |
A |
11: 94,559,309 (GRCm39) |
R383C |
probably damaging |
Het |
| Zfp719 |
C |
T |
7: 43,233,541 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ifih1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Ifih1
|
APN |
2 |
62,476,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00832:Ifih1
|
APN |
2 |
62,475,814 (GRCm39) |
splice site |
probably benign |
|
|
IGL00906:Ifih1
|
APN |
2 |
62,476,168 (GRCm39) |
missense |
probably benign |
|
|
IGL01664:Ifih1
|
APN |
2 |
62,442,044 (GRCm39) |
splice site |
probably benign |
|
|
IGL01820:Ifih1
|
APN |
2 |
62,447,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02016:Ifih1
|
APN |
2 |
62,437,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02298:Ifih1
|
APN |
2 |
62,440,783 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02311:Ifih1
|
APN |
2 |
62,440,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02635:Ifih1
|
APN |
2 |
62,442,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Washington
|
UTSW |
2 |
62,429,143 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0514:Ifih1
|
UTSW |
2 |
62,453,735 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1329:Ifih1
|
UTSW |
2 |
62,447,831 (GRCm39) |
splice site |
probably null |
|
|
R1484:Ifih1
|
UTSW |
2 |
62,440,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1769:Ifih1
|
UTSW |
2 |
62,436,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Ifih1
|
UTSW |
2 |
62,440,889 (GRCm39) |
nonsense |
probably null |
|
|
R2125:Ifih1
|
UTSW |
2 |
62,453,811 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2126:Ifih1
|
UTSW |
2 |
62,453,811 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2406:Ifih1
|
UTSW |
2 |
62,437,447 (GRCm39) |
splice site |
probably benign |
|
|
R3919:Ifih1
|
UTSW |
2 |
62,453,845 (GRCm39) |
splice site |
probably benign |
|
|
R4033:Ifih1
|
UTSW |
2 |
62,465,534 (GRCm39) |
missense |
probably benign |
|
|
R4060:Ifih1
|
UTSW |
2 |
62,429,143 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4435:Ifih1
|
UTSW |
2 |
62,476,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4538:Ifih1
|
UTSW |
2 |
62,447,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Ifih1
|
UTSW |
2 |
62,439,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4703:Ifih1
|
UTSW |
2 |
62,429,220 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4897:Ifih1
|
UTSW |
2 |
62,465,358 (GRCm39) |
intron |
probably benign |
|
|
R5274:Ifih1
|
UTSW |
2 |
62,442,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6140:Ifih1
|
UTSW |
2 |
62,431,804 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6223:Ifih1
|
UTSW |
2 |
62,428,603 (GRCm39) |
missense |
probably benign |
|
|
R6332:Ifih1
|
UTSW |
2 |
62,469,827 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6650:Ifih1
|
UTSW |
2 |
62,436,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6813:Ifih1
|
UTSW |
2 |
62,476,037 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6977:Ifih1
|
UTSW |
2 |
62,436,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7054:Ifih1
|
UTSW |
2 |
62,440,859 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7167:Ifih1
|
UTSW |
2 |
62,429,240 (GRCm39) |
missense |
probably benign |
|
|
R7269:Ifih1
|
UTSW |
2 |
62,475,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7397:Ifih1
|
UTSW |
2 |
62,453,832 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7885:Ifih1
|
UTSW |
2 |
62,431,813 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8672:Ifih1
|
UTSW |
2 |
62,435,993 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8960:Ifih1
|
UTSW |
2 |
62,442,235 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9258:Ifih1
|
UTSW |
2 |
62,442,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Ifih1
|
UTSW |
2 |
62,475,950 (GRCm39) |
missense |
probably benign |
|
|
R9432:Ifih1
|
UTSW |
2 |
62,439,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ifih1
|
UTSW |
2 |
62,447,813 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTATTTTCAAGAGGCAAAGC -3'
(R):5'- AATGACCCATGGCAGCTCTC -3'
Sequencing Primer
(F):5'- CTTAAGAGTCATAGGCATTTGGC -3'
(R):5'- ATGGCAGCTCTCTCCTTTAGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation