Mutagenetix > Incidental Mutation

Incidental Mutation 'R4663:Ifih1'

352981

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

041921-MU

Accession Numbers

Essential gene?

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

Stock #

R4663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62426142-62476599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62439563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 488 (C488F)

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: C537F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028259
Gene: ENSMUSG00000026896
AA Change: C537F

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: C488F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108078
Gene: ENSMUSG00000026896
AA Change: C488F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqr	A	T	2: 113,992,147 (GRCm39)	Y76*	probably null	Het
Armc5	C	A	7: 127,837,717 (GRCm39)	A140E	probably benign	Het
Auts2	T	C	5: 131,468,476 (GRCm39)	H947R	probably damaging	Het
Bag2	T	C	1: 33,786,074 (GRCm39)	T83A	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bean1	A	G	8: 104,937,799 (GRCm39)	Y126C	probably damaging	Het
Cars1	T	C	7: 143,129,697 (GRCm39)	E330G	probably damaging	Het
Ccdc40	A	G	11: 119,122,332 (GRCm39)	I45V	probably benign	Het
Cd320	G	A	17: 34,067,152 (GRCm39)	G214R	probably null	Het
Ckm	G	A	7: 19,153,419 (GRCm39)	V237M	probably damaging	Het
Cplane1	T	C	15: 8,247,939 (GRCm39)	V1496A	probably benign	Het
Cspg4	T	C	9: 56,793,960 (GRCm39)	V565A	possibly damaging	Het
Dnaaf10	T	C	11: 17,182,853 (GRCm39)	V338A	probably benign	Het
Eddm13	T	G	7: 6,261,624 (GRCm39)	I35S	possibly damaging	Het
Ephb6	A	G	6: 41,594,799 (GRCm39)	Y638C	probably damaging	Het
Fat2	G	C	11: 55,187,039 (GRCm39)	S1269*	probably null	Het
Fbxo3	T	C	2: 103,883,820 (GRCm39)	V348A	probably damaging	Het
Gas6	G	A	8: 13,520,254 (GRCm39)	P478L	probably damaging	Het
Herc1	T	C	9: 66,340,660 (GRCm39)	S1670P	probably damaging	Het
Hnrnpk	C	A	13: 58,542,331 (GRCm39)	R281L	probably damaging	Het
Ift172	T	C	5: 31,441,559 (GRCm39)	K192E	probably benign	Het
Ighv5-9	T	A	12: 113,625,440 (GRCm39)	Q101L	probably benign	Het
Igkv3-2	G	T	6: 70,675,863 (GRCm39)	M57I	probably benign	Het
Insyn2a	A	T	7: 134,500,877 (GRCm39)	Y409*	probably null	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
L3mbtl3	T	C	10: 26,213,715 (GRCm39)	Y237C	unknown	Het
Lats1	G	A	10: 7,588,347 (GRCm39)	C988Y	probably damaging	Het
Lgals3	T	A	14: 47,619,079 (GRCm39)		probably null	Het
Lrrc3b	G	T	14: 15,358,220 (GRCm38)	H129N	probably benign	Het
Lrriq1	T	C	10: 102,899,273 (GRCm39)	H1656R	possibly damaging	Het
Lypd6	T	G	2: 50,063,623 (GRCm39)	Y43*	probably null	Het
Mettl25b	A	G	3: 87,835,055 (GRCm39)	S82P	probably damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Msi1	G	A	5: 115,588,334 (GRCm39)	R284Q	probably damaging	Het
Mybpc2	T	C	7: 44,155,066 (GRCm39)	E947G	probably damaging	Het
Nat14	T	A	7: 4,927,446 (GRCm39)	L206Q	probably damaging	Het
Nup88	A	T	11: 70,856,672 (GRCm39)		probably null	Het
Or11g27	A	T	14: 50,771,061 (GRCm39)	Y64F	probably damaging	Het
Or4k15	A	G	14: 50,364,939 (GRCm39)	R302G	probably benign	Het
Or8g19	A	T	9: 39,056,145 (GRCm39)	I250F	probably damaging	Het
Pdcl	T	C	2: 37,245,778 (GRCm39)	E75G	probably damaging	Het
Phf14	A	G	6: 11,953,421 (GRCm39)	I387V	possibly damaging	Het
Phf3	G	A	1: 30,860,296 (GRCm39)	R845W	probably damaging	Het
Pm20d1	T	C	1: 131,726,340 (GRCm39)	I59T	probably damaging	Het
Prkd1	C	T	12: 50,466,631 (GRCm39)		probably null	Het
Psmb2	T	C	4: 126,571,558 (GRCm39)	L4P	probably damaging	Het
Pttg1	T	A	11: 43,315,677 (GRCm39)	K46*	probably null	Het
Ryr2	T	C	13: 11,764,395 (GRCm39)	H1401R	possibly damaging	Het
Septin4	T	A	11: 87,458,429 (GRCm39)	Y268N	probably damaging	Het
Sh3d19	G	A	3: 86,030,570 (GRCm39)	D696N	probably benign	Het
Slc16a2	T	C	X: 102,751,585 (GRCm39)	T274A	probably benign	Het
Slc26a6	G	A	9: 108,735,106 (GRCm39)	A335T	probably damaging	Het
Slc49a3	T	C	5: 108,590,011 (GRCm39)	M464V	probably benign	Het
Slc6a5	C	A	7: 49,588,146 (GRCm39)	Y493*	probably null	Het
Slf1	A	T	13: 77,274,723 (GRCm39)	S37R	probably damaging	Het
Smoc1	G	A	12: 81,214,376 (GRCm39)	G264S	probably damaging	Het
Snapc4	T	C	2: 26,264,193 (GRCm39)	E280G	possibly damaging	Het
Snx25	G	A	8: 46,488,616 (GRCm39)	T913M	probably damaging	Het
Snx7	T	C	3: 117,594,528 (GRCm39)	T408A	probably benign	Het
Spdya	T	A	17: 71,885,339 (GRCm39)	S264R	probably benign	Het
Spg11	A	T	2: 121,928,580 (GRCm39)		probably null	Het
Suz12	T	A	11: 79,904,350 (GRCm39)	L230Q	probably damaging	Het
Szt2	A	G	4: 118,234,881 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,689,005 (GRCm39)	R2194L	probably damaging	Het
Tmed8	T	A	12: 87,221,005 (GRCm39)	I194F	probably damaging	Het
Tmem79	T	A	3: 88,240,751 (GRCm39)	T66S	probably damaging	Het
Trappc1	T	A	11: 69,216,337 (GRCm39)	S118T	probably benign	Het
Ttn	C	T	2: 76,569,225 (GRCm39)	V27223I	probably benign	Het
Ttn	T	C	2: 76,606,839 (GRCm39)	T18024A	probably damaging	Het
Vmn2r15	C	T	5: 109,441,940 (GRCm39)	M164I	probably benign	Het
Vmn2r53	T	A	7: 12,334,901 (GRCm39)	Y253F	probably benign	Het
Zfand6	C	T	7: 84,267,093 (GRCm39)	R163H	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
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'- GTAGAGACAATTAGTGGCAGTCTTTG -3'
(R):5'- TGCTGCGTATCACCTGAATG -3'

Sequencing Primer
(F):5'- AGTCTTTGCTGCCTCCTATC -3'
(R):5'- GCTGCGTATCACCTGAATGAAATG -3'

Posted On

2015-10-08