Mutagenetix > Incidental Mutation

Incidental Mutation 'R0107:Ifrd1'

33340

Institutional Source

Beutler Lab

Gene Symbol

Ifrd1

Ensembl Gene

ENSMUSG00000001627

Gene Name

interferon-related developmental regulator 1

Synonyms

PC4, Ifnl, Tis7

MMRRC Submission

038393-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R0107 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

40253128-40273184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40264080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 105 (Q105L)

Ref Sequence

ENSEMBL: ENSMUSP00000133028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001672] [ENSMUST00000164354] [ENSMUST00000165027] [ENSMUST00000169319] [ENSMUST00000169926] [ENSMUST00000171530]

AlphaFold

P19182

Predicted Effect

probably damaging
Transcript: ENSMUST00000001672
AA Change: Q153L

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

SMART Domains

Protein: ENSMUSP00000001672
Gene: ENSMUSG00000001627
AA Change: Q153L

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: ENSMUST00000164354

SMART Domains

Protein: ENSMUSP00000130846
Gene: ENSMUSG00000001627

Domain	Start	End	E-Value	Type
Pfam:IFRD	1	87	1.1e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165027
AA Change: Q105L

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

SMART Domains

Protein: ENSMUSP00000133028
Gene: ENSMUSG00000001627
AA Change: Q105L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165676

Predicted Effect

probably benign
Transcript: ENSMUST00000169319

SMART Domains

Protein: ENSMUSP00000130824
Gene: ENSMUSG00000001627

Domain	Start	End	E-Value	Type
Pfam:IFRD	1	100	8.9e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169926
AA Change: Q105L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127673
Gene: ENSMUSG00000001627
AA Change: Q105L

Domain	Start	End	E-Value	Type
Pfam:IFRD	1	138	5.6e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170752

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

noncoding transcript
Transcript: ENSMUST00000171553

SMART Domains

Protein: ENSMUSP00000127954
Gene: ENSMUSG00000001627

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
transmembrane domain	84	106	N/A	INTRINSIC

Meta Mutation Damage Score

0.8785

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.6%

Validation Efficiency

99% (71/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,659,737 (GRCm39)	L397I	possibly damaging	Het
Abca1	A	G	4: 53,080,834 (GRCm39)	V825A	probably benign	Het
Adamts7	T	C	9: 90,062,773 (GRCm39)	I409T	possibly damaging	Het
Adck1	T	C	12: 88,413,426 (GRCm39)	W253R	possibly damaging	Het
Afg3l2	A	G	18: 67,564,836 (GRCm39)	F213L	probably damaging	Het
Ankle2	T	C	5: 110,400,893 (GRCm39)	V743A	probably benign	Het
Ankrd34c	C	T	9: 89,611,537 (GRCm39)	R268H	probably benign	Het
Arb2a	A	G	13: 78,050,933 (GRCm39)	D145G	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc7b	T	G	8: 129,904,678 (GRCm39)		probably benign	Het
Cd320	A	T	17: 34,067,059 (GRCm39)	M169L	probably benign	Het
Chn1	A	G	2: 73,445,028 (GRCm39)	Y338H	probably damaging	Het
Chuk	T	A	19: 44,085,358 (GRCm39)	S263C	probably damaging	Het
Dennd4b	C	A	3: 90,180,043 (GRCm39)	P663T	possibly damaging	Het
Dnajc24	T	G	2: 105,832,259 (GRCm39)		probably benign	Het
Fbn2	A	G	18: 58,189,275 (GRCm39)	V1617A	probably benign	Het
Fermt2	T	C	14: 45,702,279 (GRCm39)	N502D	probably damaging	Het
Frrs1	A	T	3: 116,690,365 (GRCm39)	I3F	probably damaging	Het
Fut1	C	A	7: 45,268,270 (GRCm39)	Q20K	possibly damaging	Het
Gbf1	T	C	19: 46,273,267 (GRCm39)	V1709A	probably benign	Het
Gfra3	G	T	18: 34,844,359 (GRCm39)	H60Q	probably benign	Het
Gm10750	T	A	2: 148,857,973 (GRCm39)	M93L	unknown	Het
Hmcn1	T	A	1: 150,462,766 (GRCm39)	I5124L	probably benign	Het
Hps3	A	C	3: 20,084,960 (GRCm39)	L76R	probably damaging	Het
Irs2	A	T	8: 11,054,691 (GRCm39)	V1247E	probably damaging	Het
Itgal	T	C	7: 126,927,731 (GRCm39)		probably benign	Het
Ivns1abp	A	T	1: 151,237,321 (GRCm39)	N495I	probably damaging	Het
Kank1	T	A	19: 25,407,730 (GRCm39)		probably benign	Het
Mroh8	T	C	2: 157,067,388 (GRCm39)	Q657R	probably benign	Het
Mthfd1l	T	C	10: 3,991,838 (GRCm39)	Y597H	probably benign	Het
Myom1	G	A	17: 71,384,360 (GRCm39)	V692I	probably damaging	Het
Or13a17	A	T	7: 140,271,258 (GRCm39)	M147L	probably benign	Het
Or1j18	T	G	2: 36,624,730 (GRCm39)	Y132*	probably null	Het
Or7g20	A	G	9: 18,946,629 (GRCm39)	D70G	probably damaging	Het
Palmd	A	T	3: 116,717,725 (GRCm39)	H257Q	probably damaging	Het
Pcnx2	A	T	8: 126,480,325 (GRCm39)	V1994D	probably benign	Het
Phkb	G	A	8: 86,743,560 (GRCm39)	G553S	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Ptprn	A	T	1: 75,232,356 (GRCm39)	L453M	probably damaging	Het
Ptprz1	T	A	6: 23,000,569 (GRCm39)	D886E	probably damaging	Het
Rcn1	T	A	2: 105,225,126 (GRCm39)	I110F	possibly damaging	Het
Scn1a	T	A	2: 66,154,977 (GRCm39)	T661S	probably benign	Het
Slc6a19	A	G	13: 73,832,176 (GRCm39)	Y467H	possibly damaging	Het
Slc9c1	T	A	16: 45,395,783 (GRCm39)	D611E	probably benign	Het
Slitrk6	T	C	14: 110,989,395 (GRCm39)	E104G	possibly damaging	Het
Spag17	A	T	3: 99,958,103 (GRCm39)	K920N	possibly damaging	Het
St3gal5	A	G	6: 72,119,133 (GRCm39)	S82G	probably benign	Het
Tlk1	T	C	2: 70,544,333 (GRCm39)	*767W	probably null	Het
Tln2	A	G	9: 67,277,988 (GRCm39)	V342A	probably damaging	Het
Tmem104	T	A	11: 115,093,006 (GRCm39)	M132K	probably damaging	Het
Tmem184c	A	G	8: 78,323,702 (GRCm39)	S387P	possibly damaging	Het
Tmtc1	A	G	6: 148,327,411 (GRCm39)	V34A	possibly damaging	Het
Trim46	A	G	3: 89,143,640 (GRCm39)	F596S	probably damaging	Het
Unc79	T	A	12: 103,100,784 (GRCm39)	D1870E	possibly damaging	Het
Utp20	T	C	10: 88,614,253 (GRCm39)	T1234A	probably benign	Het
Vmn1r31	T	A	6: 58,449,728 (GRCm39)	T46S	probably benign	Het
Vps13a	A	T	19: 16,669,188 (GRCm39)	L1341Q	probably benign	Het
Wdr72	A	T	9: 74,117,715 (GRCm39)	D821V	probably damaging	Het
Zfhx4	T	C	3: 5,464,042 (GRCm39)	L1400P	probably damaging	Het
Zfp217	T	A	2: 169,956,794 (GRCm39)	K735*	probably null	Het
Zfp235	A	G	7: 23,836,541 (GRCm39)	Q29R	probably damaging	Het
Zfp628	A	G	7: 4,923,167 (GRCm39)	Y463C	probably damaging	Het
Zkscan4	A	G	13: 21,668,751 (GRCm39)	T401A	possibly 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
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
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'- TTGGGTGTTGAGTCTGAACCGACC -3'
(R):5'- AGCAGCCCTGTTAGTGTGAGTTCC -3'

Sequencing Primer
(F):5'- TCTGAACCGACCTGTAAATTTTAATC -3'
(R):5'- GCAAATCTGTTTGGAACACTGG -3'

Posted On

2013-05-09