Mutagenetix > Incidental Mutation

Incidental Mutation 'R6800:Ifrd1'

533293

Institutional Source

Beutler Lab

Gene Symbol

Ifrd1

Ensembl Gene

ENSMUSG00000001627

Gene Name

interferon-related developmental regulator 1

Synonyms

PC4, Ifnl, Tis7

MMRRC Submission

044913-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R6800 (G1)

Quality Score

204.009

Status

Validated

Chromosome

Chromosomal Location

40253128-40273184 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 40273157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128635 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000130846
Gene: ENSMUSG00000001627

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

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 benign
Transcript: ENSMUST00000169926

SMART Domains

Protein: ENSMUSP00000127673
Gene: ENSMUSG00000001627

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 60,992,948 (GRCm39)	P244S	probably damaging	Het
9130023H24Rik	C	A	7: 127,836,742 (GRCm39)		probably benign	Het
Acoxl	A	T	2: 127,852,085 (GRCm39)	Q129L	probably damaging	Het
Akna	T	C	4: 63,316,268 (GRCm39)	T32A	probably benign	Het
Alox15	C	T	11: 70,235,645 (GRCm39)		probably null	Het
Antxrl	T	C	14: 33,787,864 (GRCm39)	S296P	probably damaging	Het
Arrb2	G	T	11: 70,328,142 (GRCm39)	G52*	probably null	Het
Bltp2	T	C	11: 78,179,105 (GRCm39)	F2091S	probably benign	Het
Capn2	A	T	1: 182,309,045 (GRCm39)	I499N	probably damaging	Het
Cfhr4	T	A	1: 139,629,719 (GRCm39)	D683V	possibly damaging	Het
Cspg4b	T	A	13: 113,504,686 (GRCm39)	D396E	probably benign	Het
Cubn	T	A	2: 13,326,066 (GRCm39)	I2700F	probably damaging	Het
Cypt4	A	T	9: 24,536,965 (GRCm39)	N152Y	probably benign	Het
Dmxl2	T	C	9: 54,316,467 (GRCm39)	N1640D	probably damaging	Het
Dnah7b	A	T	1: 46,379,377 (GRCm39)	N3704Y	possibly damaging	Het
Dnah9	A	G	11: 65,963,565 (GRCm39)		probably null	Het
Elac2	G	A	11: 64,890,265 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,433,029 (GRCm39)		probably null	Het
Espnl	T	C	1: 91,270,351 (GRCm39)	V386A	probably damaging	Het
Fbxl6	T	A	15: 76,422,898 (GRCm39)		probably benign	Het
Fdps	A	C	3: 89,008,068 (GRCm39)	F17V	probably damaging	Het
Gigyf2	T	C	1: 87,346,898 (GRCm39)	I576T	possibly damaging	Het
Gm20939	A	G	17: 95,184,657 (GRCm39)	E435G	possibly damaging	Het
Hivep1	G	A	13: 42,310,852 (GRCm39)	V1031I	probably damaging	Het
Hydin	T	G	8: 111,324,603 (GRCm39)	S4655A	probably benign	Het
Iqgap1	G	T	7: 80,378,729 (GRCm39)	T1219K	possibly damaging	Het
Lmtk3	G	A	7: 45,443,233 (GRCm39)	E639K	possibly damaging	Het
Map3k5	A	G	10: 20,017,326 (GRCm39)	*1373W	probably null	Het
Mia2	G	A	12: 59,235,332 (GRCm39)		probably null	Het
Micu2	T	C	14: 58,156,896 (GRCm39)	D313G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,371 (GRCm39)	S77P	probably damaging	Het
Mrpl51	T	C	6: 125,169,367 (GRCm39)	V17A	probably benign	Het
Neurod4	A	T	10: 130,106,661 (GRCm39)	Y204*	probably null	Het
Or2n1	A	G	17: 38,486,013 (GRCm39)	I13V	probably benign	Het
Or56a42-ps1	A	T	7: 104,776,217 (GRCm39)	V97E	probably benign	Het
Or5p67	G	A	7: 107,922,460 (GRCm39)	T141I	probably benign	Het
Or6c66b	A	T	10: 129,377,132 (GRCm39)	H242L	probably damaging	Het
Pate2	T	C	9: 35,596,941 (GRCm39)		probably benign	Het
Pcdhgb8	G	A	18: 37,896,580 (GRCm39)	R550Q	probably benign	Het
Phldb3	T	C	7: 24,323,577 (GRCm39)	L437P	possibly damaging	Het
Pianp	C	A	6: 124,978,565 (GRCm39)	P257T	possibly damaging	Het
Rbbp6	T	A	7: 122,584,287 (GRCm39)	H140Q	possibly damaging	Het
Rfx2	A	G	17: 57,087,804 (GRCm39)	I529T	probably damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Rp1l1	T	C	14: 64,268,599 (GRCm39)	I1395T	possibly damaging	Het
Rps6ka2	A	C	17: 7,519,035 (GRCm39)	K186Q	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtel1	C	A	2: 180,964,256 (GRCm39)	T85N	probably benign	Het
Rtn4rl2	T	C	2: 84,710,967 (GRCm39)	N99S	probably damaging	Het
Ryr1	C	T	7: 28,723,741 (GRCm39)	G4106D	possibly damaging	Het
Scgb2b24	A	G	7: 33,437,894 (GRCm39)	V71A	probably benign	Het
Sgip1	A	G	4: 102,778,225 (GRCm39)		probably benign	Het
Slc12a4	G	A	8: 106,676,371 (GRCm39)	T515I	probably damaging	Het
Spag1	C	T	15: 36,197,895 (GRCm39)	R286*	probably null	Het
Strbp	C	T	2: 37,515,228 (GRCm39)	R266Q	probably damaging	Het
Strn	G	T	17: 78,977,787 (GRCm39)		probably benign	Het
Thnsl2	C	A	6: 71,118,264 (GRCm39)	V55L	probably benign	Het
Tmem178b	A	T	6: 40,231,858 (GRCm39)	Q164L	unknown	Het
Tmprss6	C	T	15: 78,324,457 (GRCm39)	R786H	probably damaging	Het
Ttc21a	T	A	9: 119,770,268 (GRCm39)	L113Q	possibly damaging	Het
Ttc21b	T	C	2: 66,038,994 (GRCm39)		probably null	Het
Vmn2r51	T	C	7: 9,832,191 (GRCm39)	D465G	probably damaging	Het
Vmp1	A	C	11: 86,556,913 (GRCm39)		probably null	Het
Wdcp	T	C	12: 4,901,358 (GRCm39)	F405L	probably damaging	Het
Zfhx3	A	T	8: 109,676,149 (GRCm39)	T2400S	probably benign	Het
Zfp27	T	C	7: 29,593,860 (GRCm39)	T702A	probably benign	Het
Zfp87	T	C	13: 74,520,080 (GRCm39)	S333G	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
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
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'- TACACTTGGAGCTCAGCGAG -3'
(R):5'- GTGACTACCCGGGTGAATTC -3'

Sequencing Primer
(F):5'- CTTGGAGCTCAGCGAGGATCAG -3'
(R):5'- GACGAGGTCACGACGCAATC -3'

Posted On

2018-09-12