Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Ifrd1'

60933

Institutional Source

Beutler Lab

Gene Symbol

Ifrd1

Ensembl Gene

ENSMUSG00000001627

Gene Name

interferon-related developmental regulator 1

Synonyms

PC4, Ifnl, Tis7

MMRRC Submission

038423-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R0138 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

40253128-40273184 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 40257129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128635 (fasta)

Gene Model

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

AlphaFold

P19182

Predicted Effect

probably benign
Transcript: ENSMUST00000001672

SMART Domains

Protein: ENSMUSP00000001672
Gene: ENSMUSG00000001627

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: ENSMUST00000164047

SMART Domains

Protein: ENSMUSP00000127553
Gene: ENSMUSG00000001627

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

probably benign
Transcript: ENSMUST00000165027

SMART Domains

Protein: ENSMUSP00000133028
Gene: ENSMUSG00000001627

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165676

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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,098 (GRCm39)	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,841,454 (GRCm39)	V845D	probably damaging	Het
Anxa8	T	A	14: 33,819,896 (GRCm39)	F269Y	probably benign	Het
Anxa8	T	A	14: 33,819,897 (GRCm39)	F295L	possibly damaging	Het
Aox4	C	G	1: 58,268,025 (GRCm39)	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,559,617 (GRCm39)	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843 (GRCm39)		probably benign	Het
Arhgef26	C	T	3: 62,355,680 (GRCm39)	H751Y	probably benign	Het
Asic4	A	T	1: 75,446,331 (GRCm39)	Q291L	possibly damaging	Het
Bap1	T	C	14: 30,978,681 (GRCm39)	Y31H	probably damaging	Het
Brf1	A	T	12: 112,924,759 (GRCm39)	V655D	probably damaging	Het
Cebpz	A	G	17: 79,238,820 (GRCm39)	S663P	probably benign	Het
Ces2h	A	G	8: 105,744,693 (GRCm39)	D357G	probably benign	Het
Cfap36	T	C	11: 29,194,073 (GRCm39)	T90A	probably benign	Het
Ciita	A	T	16: 10,330,134 (GRCm39)	D803V	probably damaging	Het
Clnk	C	A	5: 38,931,951 (GRCm39)		probably benign	Het
Cyp46a1	A	G	12: 108,317,470 (GRCm39)	N158S	probably damaging	Het
Cyp4f13	A	G	17: 33,160,080 (GRCm39)	I98T	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dll3	T	A	7: 28,000,746 (GRCm39)	D103V	possibly damaging	Het
Dnai1	T	A	4: 41,629,814 (GRCm39)	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,111,425 (GRCm39)	T85S	probably benign	Het
Eif4g1	A	T	16: 20,494,095 (GRCm39)	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fn1	T	A	1: 71,663,269 (GRCm39)	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 48,180,104 (GRCm39)	D599G	unknown	Het
Frrs1	T	C	3: 116,675,456 (GRCm39)	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,926,935 (GRCm39)	D608N	probably damaging	Het
Gm1043	T	C	5: 37,350,317 (GRCm39)		probably benign	Het
Gm5148	T	C	3: 37,768,926 (GRCm39)	E98G	probably benign	Het
Gpr141	T	C	13: 19,936,428 (GRCm39)	I116V	probably benign	Het
Hic1	T	C	11: 75,058,169 (GRCm39)	N240S	probably damaging	Het
Hpx	G	A	7: 105,241,445 (GRCm39)	T322I	probably damaging	Het
Hs3st4	A	T	7: 123,996,416 (GRCm39)	M361L	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Klk1b21	T	A	7: 43,755,319 (GRCm39)	C173S	probably damaging	Het
Krt25	A	T	11: 99,213,524 (GRCm39)	V65E	probably benign	Het
Lrrc15	A	T	16: 30,092,267 (GRCm39)	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,901,345 (GRCm39)	V550E	probably benign	Het
Macf1	A	G	4: 123,334,540 (GRCm39)	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,174,281 (GRCm39)		probably benign	Het
Mcm5	T	A	8: 75,847,508 (GRCm39)	V435D	probably damaging	Het
Mctp1	C	T	13: 76,975,831 (GRCm39)	R478C	probably damaging	Het
Med10	T	C	13: 69,959,817 (GRCm39)		probably benign	Het
Mrpl4	T	C	9: 20,919,888 (GRCm39)	Y280H	probably benign	Het
Msrb3	T	C	10: 120,687,892 (GRCm39)	E61G	probably damaging	Het
Myo1c	T	C	11: 75,551,827 (GRCm39)	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,143,204 (GRCm39)	T165S	probably damaging	Het
Myrfl	T	A	10: 116,685,138 (GRCm39)	R81W	probably damaging	Het
Neil1	T	C	9: 57,051,030 (GRCm39)		probably benign	Het
Neto2	A	G	8: 86,367,673 (GRCm39)	I357T	possibly damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,643,607 (GRCm39)	S3P	probably benign	Het
Or52h7	A	T	7: 104,214,210 (GRCm39)	I261L	probably benign	Het
Plce1	T	C	19: 38,512,863 (GRCm39)	I54T	possibly damaging	Het
Prex2	A	T	1: 11,355,267 (GRCm39)		probably benign	Het
Psapl1	T	A	5: 36,361,975 (GRCm39)	V189E	probably damaging	Het
Ptdss2	T	G	7: 140,735,232 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,307,322 (GRCm39)	C661R	probably benign	Het
Rpap1	T	C	2: 119,595,380 (GRCm39)		probably null	Het
Rrp1b	A	G	17: 32,279,426 (GRCm39)	T696A	probably benign	Het
Sacm1l	T	A	9: 123,377,982 (GRCm39)	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,305,260 (GRCm39)	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,183,885 (GRCm39)	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,701,679 (GRCm39)		probably benign	Het
Tpst1	T	A	5: 130,130,627 (GRCm39)	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,818,600 (GRCm39)	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,378,514 (GRCm39)	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,482,596 (GRCm39)	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,487,048 (GRCm39)	T616S	probably damaging	Het
Vps13a	G	A	19: 16,637,863 (GRCm39)	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,326,053 (GRCm39)	M328L	probably benign	Het
Zp2	A	G	7: 119,736,423 (GRCm39)	F340S	probably damaging	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
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
R5779:Ifrd1	UTSW	12	40,253,369 (GRCm39)	missense	probably damaging	1.00
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'- TTTCAGCAAGCTGCTGGCTGTG -3'
(R):5'- TCTGCCTGTGGACCTTAGAAACCC -3'

Sequencing Primer
(F):5'- CTGTGCTGTCACTGACGAG -3'
(R):5'- TTAGAAACCCAGGTCATGTGC -3'

Posted On

2013-07-24