Mutagenetix > Incidental Mutation

Incidental Mutation 'R5779:Ifrd1'

446889

Institutional Source

Beutler Lab

Gene Symbol

Ifrd1

Ensembl Gene

ENSMUSG00000001627

Gene Name

interferon-related developmental regulator 1

Synonyms

PC4, Ifnl, Tis7

MMRRC Submission

043377-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R5779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40253128-40273184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40253369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 448 (F448I)

Ref Sequence

ENSEMBL: ENSMUSP00000001672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001672] [ENSMUST00000095760] [ENSMUST00000165027] [ENSMUST00000171530] [ENSMUST00000220951]

AlphaFold

P19182

Predicted Effect

probably damaging
Transcript: ENSMUST00000001672
AA Change: F448I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001672
Gene: ENSMUSG00000001627
AA Change: F448I

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
Pfam:IFRD	40	345	1.1e-115	PFAM
Pfam:IFRD_C	390	443	6.7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095760

SMART Domains

Protein: ENSMUSP00000093434
Gene: ENSMUSG00000071342

Domain	Start	End	E-Value	Type
Pfam:DUF4577	1	128	1.5e-73	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000164047
AA Change: F84I

SMART Domains

Protein: ENSMUSP00000127553
Gene: ENSMUSG00000001627
AA Change: F84I

Domain	Start	End	E-Value	Type
Pfam:IFRD	1	25	9.3e-11	PFAM
Pfam:IFRD_C	27	80	5.1e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164804

Predicted Effect

unknown
Transcript: ENSMUST00000165027
AA Change: F400I

SMART Domains

Protein: ENSMUSP00000133028
Gene: ENSMUSG00000001627
AA Change: F400I

Domain	Start	End	E-Value	Type
Pfam:IFRD	1	119	8.6e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170119

Predicted Effect

probably benign
Transcript: ENSMUST00000171530

SMART Domains

Protein: ENSMUSP00000128635
Gene: ENSMUSG00000001627

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
Pfam:IFRD	40	137	1.8e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220951

Meta Mutation Damage Score

0.1056

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

88% (52/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous null mice display impaired muscle regeneration and myogenic differentiation and decreased body weight in older mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,075,496 (GRCm39)	M1332V	probably benign	Het
Acsbg3	A	T	17: 57,188,061 (GRCm39)	N190Y	probably benign	Het
Afg3l2	T	C	18: 67,573,513 (GRCm39)	K132R	probably null	Het
Antkmt	A	G	17: 26,009,631 (GRCm39)	V194A	probably benign	Het
Arap3	T	C	18: 38,117,418 (GRCm39)	D886G	probably damaging	Het
B3gntl1	G	T	11: 121,542,502 (GRCm39)		probably null	Het
Cdk12	T	A	11: 98,109,900 (GRCm39)	S640R	probably benign	Het
Ceacam12	C	A	7: 17,803,079 (GRCm39)	P162T	probably benign	Het
Chrna5	C	A	9: 54,905,388 (GRCm39)	H67N	probably benign	Het
Copb1	T	A	7: 113,818,807 (GRCm39)	D837V	probably damaging	Het
Dcaf5	C	T	12: 80,385,606 (GRCm39)	R840H	probably benign	Het
Ect2l	T	A	10: 18,039,186 (GRCm39)	Q324L	probably benign	Het
Eef1e1	T	C	13: 38,830,249 (GRCm39)	N141S	probably damaging	Het
Eif2ak4	A	C	2: 118,243,444 (GRCm39)	N208T	possibly damaging	Het
Ext1	A	G	15: 53,207,949 (GRCm39)	Y271H	probably damaging	Het
Fbxo5	G	A	10: 5,750,303 (GRCm39)	R323C	possibly damaging	Het
Fpr-rs3	C	A	17: 20,844,488 (GRCm39)	A218S	possibly damaging	Het
Gm20499	G	A	5: 114,955,082 (GRCm39)		probably benign	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Gucy1b2	C	A	14: 62,651,750 (GRCm39)	L400F	possibly damaging	Het
Hgd	T	A	16: 37,413,733 (GRCm39)	L24H	probably benign	Het
Hmx3	C	A	7: 131,146,057 (GRCm39)	S255*	probably null	Het
Igfn1	T	A	1: 135,894,578 (GRCm39)	E1996V	probably benign	Het
Itpr1	G	A	6: 108,329,104 (GRCm39)	G173R	probably damaging	Het
Kbtbd8	T	C	6: 95,095,515 (GRCm39)	S26P	probably benign	Het
Kctd17	A	T	15: 78,321,333 (GRCm39)		probably benign	Het
Matr3	T	C	18: 35,717,575 (GRCm39)	S258P	possibly damaging	Het
Mpp4	G	A	1: 59,190,825 (GRCm39)	A90V	probably benign	Het
Mrpl20	G	A	4: 155,891,378 (GRCm39)	R34Q	probably damaging	Het
Neb	A	T	2: 52,135,313 (GRCm39)	S3266T	probably damaging	Het
Nipal3	A	G	4: 135,179,650 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,326,652 (GRCm39)	T46S	possibly damaging	Het
Nsd3	G	T	8: 26,172,685 (GRCm39)	E815*	probably null	Het
Nup98	C	A	7: 101,801,568 (GRCm39)	V786L	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Pcdhb3	T	C	18: 37,434,520 (GRCm39)	V162A	probably benign	Het
Pcgf2	G	A	11: 97,581,117 (GRCm39)	P58L	probably damaging	Het
Penk	A	G	4: 4,134,318 (GRCm39)	F110L	probably damaging	Het
Relch	T	G	1: 105,615,072 (GRCm39)	N246K	probably damaging	Het
Scfd1	A	G	12: 51,478,312 (GRCm39)	N508S	probably benign	Het
Scn2a	T	C	2: 65,594,827 (GRCm39)	V1892A	probably benign	Het
Sema6a	G	A	18: 47,381,893 (GRCm39)	R885C	probably damaging	Het
Sik2	T	C	9: 50,807,145 (GRCm39)	H755R	probably benign	Het
Slc36a3	A	T	11: 55,026,094 (GRCm39)	Y241*	probably null	Het
Smg5	T	C	3: 88,258,925 (GRCm39)		probably benign	Het
Spag9	A	G	11: 94,005,079 (GRCm39)	T1049A	probably benign	Het
Tas2r103	T	C	6: 133,013,908 (GRCm39)	M53V	probably benign	Het
Tpr	C	T	1: 150,299,292 (GRCm39)	A1090V	probably damaging	Het
Traf5	T	A	1: 191,729,633 (GRCm39)	R473W	probably damaging	Het
Ush2a	T	C	1: 188,175,707 (GRCm39)		probably null	Het
Vit	A	G	17: 78,853,855 (GRCm39)	T34A	probably benign	Het

Other mutations in Ifrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02186:Ifrd1	APN	12	40,264,092 (GRCm39)	missense	probably benign	0.00
IGL02442:Ifrd1	APN	12	40,266,316 (GRCm39)	splice site	probably benign
IGL02942:Ifrd1	APN	12	40,267,375 (GRCm39)	critical splice donor site	probably null
IGL03119:Ifrd1	APN	12	40,262,333 (GRCm39)	missense	probably null	0.03
R0107:Ifrd1	UTSW	12	40,264,080 (GRCm39)	missense	probably damaging	1.00
R0138:Ifrd1	UTSW	12	40,257,129 (GRCm39)	splice site	probably benign
R0390:Ifrd1	UTSW	12	40,264,093 (GRCm39)	splice site	probably null
R0627:Ifrd1	UTSW	12	40,256,986 (GRCm39)	critical splice donor site	probably null
R2061:Ifrd1	UTSW	12	40,263,244 (GRCm39)	missense	probably benign	0.00
R5915:Ifrd1	UTSW	12	40,263,095 (GRCm39)	missense	possibly damaging	0.94
R6000:Ifrd1	UTSW	12	40,266,243 (GRCm39)	missense	possibly damaging	0.52
R6539:Ifrd1	UTSW	12	40,253,434 (GRCm39)	missense	probably damaging	1.00
R6751:Ifrd1	UTSW	12	40,253,913 (GRCm39)	splice site	probably null
R6800:Ifrd1	UTSW	12	40,273,157 (GRCm39)	unclassified	probably benign
R8117:Ifrd1	UTSW	12	40,262,350 (GRCm39)	missense	probably benign
R8795:Ifrd1	UTSW	12	40,263,076 (GRCm39)	missense	possibly damaging	0.47
R9345:Ifrd1	UTSW	12	40,267,458 (GRCm39)	missense	possibly damaging	0.87
R9507:Ifrd1	UTSW	12	40,267,225 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTGCTCACTACACAGAATACG -3'
(R):5'- TGATGTGTGCCTGTTACCTC -3'

Sequencing Primer
(F):5'- CAAACACTTTATTTGTGGTTACCAG -3'
(R):5'- GATGTGTGCCTGTTACCTCTCTAG -3'

Posted On

2016-12-15