Mutagenetix > Incidental Mutation

Incidental Mutation 'R2104:Ifih1'

230755

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

040108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R2104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62426142-62476599 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 62440889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 426 (Q426*)

Ref Sequence

ENSEMBL: ENSMUSP00000108078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028259] [ENSMUST00000112459]

AlphaFold

Q8R5F7

Predicted Effect

probably null
Transcript: ENSMUST00000028259
AA Change: Q475*

SMART Domains

Protein: ENSMUSP00000028259
Gene: ENSMUSG00000026896
AA Change: Q475*

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 null
Transcript: ENSMUST00000112459
AA Change: Q426*

SMART Domains

Protein: ENSMUSP00000108078
Gene: ENSMUSG00000026896
AA Change: Q426*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,383,527 (GRCm39)	V563I	probably benign	Het
Amer3	T	C	1: 34,627,759 (GRCm39)	V666A	probably benign	Het
Ankrd16	A	G	2: 11,784,711 (GRCm39)		probably benign	Het
Ankub1	G	T	3: 57,580,296 (GRCm39)	C120*	probably null	Het
Arhgap31	T	C	16: 38,445,941 (GRCm39)	I135V	probably benign	Het
Atp2c2	G	A	8: 120,476,584 (GRCm39)	G633D	probably benign	Het
Camta1	T	A	4: 151,537,751 (GRCm39)	Q143L	probably damaging	Het
Casp8ap2	T	C	4: 32,644,727 (GRCm39)	S1267P	probably benign	Het
Ccn4	A	G	15: 66,791,176 (GRCm39)	E326G	probably benign	Het
Cdh1	T	A	8: 107,380,391 (GRCm39)		probably benign	Het
Cdhr4	C	A	9: 107,873,460 (GRCm39)	D397E	probably damaging	Het
Cdk6	T	G	5: 3,394,387 (GRCm39)	S7R	probably benign	Het
Cert1	T	A	13: 96,771,394 (GRCm39)	N550K	probably damaging	Het
Cilp2	C	A	8: 70,335,442 (GRCm39)	E519*	probably null	Het
Clybl	A	G	14: 122,548,718 (GRCm39)	Y40C	probably damaging	Het
Ctnnal1	T	C	4: 56,812,329 (GRCm39)	*732W	probably null	Het
Ctns	A	T	11: 73,083,907 (GRCm39)	S38R	probably benign	Het
Cwh43	A	T	5: 73,578,873 (GRCm39)	K293N	possibly damaging	Het
Dcaf5	G	T	12: 80,385,635 (GRCm39)	D830E	probably benign	Het
Dmxl2	A	G	9: 54,322,848 (GRCm39)	V1512A	probably damaging	Het
Dnah9	A	T	11: 65,951,950 (GRCm39)	C1850S	probably damaging	Het
Dpp8	C	T	9: 64,981,849 (GRCm39)		probably null	Het
Enam	A	T	5: 88,649,646 (GRCm39)	Q385L	probably damaging	Het
Etv3	A	G	3: 87,443,369 (GRCm39)	T318A	possibly damaging	Het
Exd2	T	G	12: 80,543,575 (GRCm39)	I586S	probably benign	Het
Fat3	A	G	9: 15,909,813 (GRCm39)	V2063A	possibly damaging	Het
Fezf1	A	G	6: 23,247,331 (GRCm39)	F248S	possibly damaging	Het
Flnc	T	C	6: 29,450,734 (GRCm39)		probably null	Het
Foxc2	A	G	8: 121,844,819 (GRCm39)	Y489C	probably damaging	Het
Gfm2	A	G	13: 97,308,028 (GRCm39)	E540G	probably damaging	Het
Hrg	T	C	16: 22,774,949 (GRCm39)	I193T	probably benign	Het
Ifit1bl2	T	A	19: 34,596,920 (GRCm39)	D232V	probably benign	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Inpp1	T	G	1: 52,838,577 (GRCm39)	Q24P	probably damaging	Het
Kifc2	A	G	15: 76,545,454 (GRCm39)	D67G	probably damaging	Het
Lrrc43	G	A	5: 123,639,177 (GRCm39)	G402D	probably benign	Het
Lrrc8c	C	T	5: 105,755,224 (GRCm39)	T333M	possibly damaging	Het
Mab21l3	G	T	3: 101,730,744 (GRCm39)	A165D	probably benign	Het
Mcub	T	A	3: 129,712,337 (GRCm39)	R179S	probably benign	Het
Mdfi	G	C	17: 48,135,562 (GRCm39)	A56G	possibly damaging	Het
Mdn1	A	T	4: 32,743,843 (GRCm39)		probably null	Het
Meox2	A	G	12: 37,217,476 (GRCm39)	T226A	probably damaging	Het
Mipol1	A	G	12: 57,352,842 (GRCm39)		probably null	Het
Mms22l	T	G	4: 24,591,084 (GRCm39)	N1018K	probably benign	Het
Mn1	T	C	5: 111,602,617 (GRCm39)	I1285T	possibly damaging	Het
Muc20	T	G	16: 32,614,547 (GRCm39)	S277R	probably damaging	Het
Muc6	C	A	7: 141,213,991 (GRCm39)	V2845L	probably benign	Het
Mup5	C	A	4: 61,751,962 (GRCm39)	G96C	probably damaging	Het
Neb	T	A	2: 52,146,826 (GRCm39)	M2813L	probably benign	Het
Neb	C	A	2: 52,161,570 (GRCm39)	R2074L	probably damaging	Het
Oasl2	A	T	5: 115,049,063 (GRCm39)	K168*	probably null	Het
Or6c5	T	C	10: 129,074,368 (GRCm39)	S117P	probably damaging	Het
P2rx2	C	T	5: 110,489,007 (GRCm39)	D203N	probably damaging	Het
Ptprg	T	C	14: 11,952,897 (GRCm38)		probably null	Het
Rims4	C	T	2: 163,706,785 (GRCm39)		probably null	Het
Rtn4ip1	T	A	10: 43,808,402 (GRCm39)	W60R	probably benign	Het
Sccpdh	T	C	1: 179,498,162 (GRCm39)	S69P	probably benign	Het
Serpina3b	T	A	12: 104,105,069 (GRCm39)	I415N	probably benign	Het
Slc22a4	T	C	11: 53,874,436 (GRCm39)		probably benign	Het
Slc4a5	G	A	6: 83,274,360 (GRCm39)	A1076T	probably benign	Het
Slit1	T	C	19: 41,590,686 (GRCm39)	K1329E	possibly damaging	Het
Synj2bp	A	C	12: 81,548,826 (GRCm39)	F138V	probably benign	Het
Taar7a	T	C	10: 23,868,959 (GRCm39)	I141V	probably damaging	Het
Tas1r3	T	C	4: 155,946,588 (GRCm39)	E339G	probably benign	Het
Tep1	A	G	14: 51,088,037 (GRCm39)		probably benign	Het
Tgds	A	T	14: 118,359,149 (GRCm39)	Y146*	probably null	Het
Tgm3	G	A	2: 129,879,403 (GRCm39)	V332I	probably benign	Het
Tnnt2	A	G	1: 135,771,547 (GRCm39)		probably benign	Het
Top1	T	A	2: 160,546,739 (GRCm39)	Y340N	probably damaging	Het
Topbp1	T	C	9: 103,195,181 (GRCm39)		probably benign	Het
Tpst1	A	G	5: 130,131,202 (GRCm39)	N224S	probably benign	Het
Traf4	A	G	11: 78,050,840 (GRCm39)	F439L	probably damaging	Het
Trim58	A	G	11: 58,533,964 (GRCm39)		probably benign	Het
Tspan31	T	C	10: 126,904,004 (GRCm39)	N205S	probably damaging	Het
Ube3a	T	A	7: 58,926,225 (GRCm39)	N334K	possibly damaging	Het
Ugt2a3	A	T	5: 87,477,541 (GRCm39)		probably null	Het
Vwf	G	A	6: 125,623,293 (GRCm39)	V1797I	probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Yipf7	T	A	5: 69,678,462 (GRCm39)	N56I	possibly damaging	Het
Zfp523	A	T	17: 28,414,190 (GRCm39)	T75S	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
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
R5949:Ifih1	UTSW	2	62,440,904 (GRCm39)	missense	probably benign	0.05
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'- AGGCAGAGGCTATTTTCAAGAG -3'
(R):5'- GTGTCTCTGTCACAAGCCAG -3'

Sequencing Primer
(F):5'- CTTAAGAGTCATAGGCATTTGGC -3'
(R):5'- CTCTGTCACAAGCCAGTTTGGG -3'

Posted On

2014-09-18