Mutagenetix > Incidental Mutation

Incidental Mutation 'R4703:Ifih1'

356185

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

041951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R4703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62426142-62476599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62429220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 906 (L906H)

Ref Sequence

ENSEMBL: ENSMUSP00000028259 (fasta)

Gene Model

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

AlphaFold

Q8R5F7

PDB Structure

Crystal Structure of the MDA5 Helicase Insert Domain [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028259
AA Change: L906H

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028259
Gene: ENSMUSG00000026896
AA Change: L906H

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: L857H

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108078
Gene: ENSMUSG00000026896
AA Change: L857H

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

Meta Mutation Damage Score

0.1111

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (98/101)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	A	13: 59,837,342 (GRCm39)	T248S	possibly damaging	Het
AA986860	T	C	1: 130,671,092 (GRCm39)	V438A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Aox1	T	A	1: 58,398,116 (GRCm39)	F1286I	possibly damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgap5	C	T	12: 52,564,366 (GRCm39)	P446S	probably damaging	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Armc12	A	G	17: 28,751,336 (GRCm39)	D110G	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
B4galt1	A	G	4: 40,823,569 (GRCm39)	V174A	probably benign	Het
Bcl11a	C	A	11: 24,113,725 (GRCm39)	A356E	possibly damaging	Het
Bri3bp	C	T	5: 125,528,830 (GRCm39)	L110F	probably damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Ccdc33	T	A	9: 57,940,953 (GRCm39)	I430F	possibly damaging	Het
Cgn	A	G	3: 94,683,405 (GRCm39)		probably benign	Het
Crbn	T	A	6: 106,759,883 (GRCm39)	I317F	possibly damaging	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Dnah7a	C	T	1: 53,486,476 (GRCm39)		probably null	Het
Dnajc12	A	G	10: 63,222,429 (GRCm39)		probably null	Het
Dntt	T	A	19: 41,028,242 (GRCm39)	D179E	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epn1	T	A	7: 5,098,147 (GRCm39)	D319E	probably damaging	Het
Evpl	C	G	11: 116,113,331 (GRCm39)	R1453P	probably damaging	Het
Focad	T	A	4: 88,260,558 (GRCm39)		probably null	Het
Foxp2	A	T	6: 15,411,247 (GRCm39)	M542L	probably benign	Het
Gak	T	A	5: 108,717,743 (GRCm39)	Q1299L	probably damaging	Het
Galnt5	G	T	2: 57,888,919 (GRCm39)	R173I	possibly damaging	Het
Gli1	G	T	10: 127,166,724 (GRCm39)	P843Q	possibly damaging	Het
Gm5422	G	T	10: 31,125,608 (GRCm39)		noncoding transcript	Het
Gna14	T	G	19: 16,576,344 (GRCm39)	V117G	possibly damaging	Het
Gpr6	T	C	10: 40,947,037 (GRCm39)	T182A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Ighd	A	G	12: 113,379,661 (GRCm39)		probably benign	Het
Ighv11-1	A	C	12: 113,945,622 (GRCm39)	I77R	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Il23r	A	T	6: 67,467,686 (GRCm39)	I27K	probably damaging	Het
Inpp5a	A	C	7: 139,138,839 (GRCm39)	N261T	probably damaging	Het
Ints8	T	G	4: 11,223,785 (GRCm39)	Q686P	possibly damaging	Het
Iqcf4	T	C	9: 106,445,519 (GRCm39)		probably null	Het
Irf2bp1	C	T	7: 18,739,496 (GRCm39)	R379C	possibly damaging	Het
Iws1	C	T	18: 32,213,066 (GRCm39)	P165S	probably benign	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcna10	A	T	3: 107,101,926 (GRCm39)	I186F	probably benign	Het
Limk2	C	A	11: 3,297,586 (GRCm39)	E329*	probably null	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Notch1	T	G	2: 26,361,170 (GRCm39)	K1107Q	probably benign	Het
Nsd1	T	A	13: 55,361,876 (GRCm39)	D281E	probably damaging	Het
Obi1	A	G	14: 104,743,644 (GRCm39)	L145P	probably benign	Het
Olfml2a	T	A	2: 38,841,250 (GRCm39)	L262Q	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or4k44	T	A	2: 111,368,113 (GRCm39)	I174L	probably benign	Het
Or51d1	A	T	7: 102,347,477 (GRCm39)	T11S	probably benign	Het
Or6k6	A	G	1: 173,944,964 (GRCm39)	I206T	possibly damaging	Het
Or7c19	A	G	8: 85,957,237 (GRCm39)	T38A	possibly damaging	Het
Otogl	A	C	10: 107,657,785 (GRCm39)	D1048E	probably damaging	Het
Oxnad1	T	C	14: 31,817,427 (GRCm39)	W96R	probably damaging	Het
Pcdh15	A	T	10: 74,285,995 (GRCm39)	D743V	probably damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcnx1	C	T	12: 81,941,938 (GRCm39)	T112I	probably benign	Het
Pctp	T	C	11: 89,878,099 (GRCm39)	E145G	possibly damaging	Het
Pip5k1b	T	C	19: 24,332,517 (GRCm39)	K389R	probably damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Pnlip	T	A	19: 58,664,899 (GRCm39)	D242E	probably damaging	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Rims3	A	T	4: 120,740,494 (GRCm39)		probably benign	Het
Scfd2	T	A	5: 74,680,256 (GRCm39)	Q299L	probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc15a5	T	C	6: 138,032,643 (GRCm39)	D237G	probably benign	Het
Slc16a12	T	A	19: 34,652,291 (GRCm39)	H285L	possibly damaging	Het
Sox2	C	A	3: 34,704,862 (GRCm39)	R100S	probably damaging	Het
Sspo	G	A	6: 48,477,387 (GRCm39)	C4969Y	probably damaging	Het
Stxbp2	A	G	8: 3,682,521 (GRCm39)	S37G	probably damaging	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tcf4	A	G	18: 69,790,981 (GRCm39)	Y307C	probably damaging	Het
Thsd7b	A	T	1: 129,977,646 (GRCm39)		probably benign	Het
Tnn	G	T	1: 159,943,815 (GRCm39)	D999E	possibly damaging	Het
Trmt13	C	A	3: 116,388,247 (GRCm39)	W63L	probably benign	Het
Tsc2	T	C	17: 24,823,883 (GRCm39)	N915S	probably benign	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Uvrag	A	T	7: 98,638,794 (GRCm39)	I315N	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn2r59	T	A	7: 41,661,686 (GRCm39)	I710L	probably benign	Het
Vmn2r82	A	T	10: 79,214,641 (GRCm39)	H208L	probably damaging	Het
Wtap	T	C	17: 13,199,711 (GRCm39)	T91A	probably benign	Het
Xirp1	A	T	9: 119,846,093 (GRCm39)	V930E	probably damaging	Het
Xpo4	T	G	14: 57,827,565 (GRCm39)	H877P	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
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'- GCCGACACAAGAAATGAGATTC -3'
(R):5'- CTGTGATATGCAATTTTCAGCTCG -3'

Sequencing Primer
(F):5'- GGGGGAAAAAGATCTTCCTTTCAC -3'
(R):5'- GCTCGTTTACTTCCATAAAACTAGGG -3'

Posted On

2015-10-21