Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02370:Trerf1'

290885

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trerf1

Ensembl Gene

ENSMUSG00000064043

Gene Name

transcriptional regulating factor 1

Synonyms

9430096I18Rik, Trep-132, Trep132

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

47451801-47672883 bp(+) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

C to T at 47625387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000077951

SMART Domains

Protein: ENSMUSP00000077103
Gene: ENSMUSG00000064043

Domain	Start	End	E-Value	Type
low complexity region	262	279	N/A	INTRINSIC
low complexity region	291	342	N/A	INTRINSIC
low complexity region	373	384	N/A	INTRINSIC
ZnF_C2H2	512	534	1.2e-3	SMART
low complexity region	552	580	N/A	INTRINSIC
low complexity region	666	679	N/A	INTRINSIC
low complexity region	690	704	N/A	INTRINSIC
low complexity region	732	742	N/A	INTRINSIC
low complexity region	764	779	N/A	INTRINSIC
ELM2	807	863	7.65e-13	SMART
SANT	912	960	2.18e-5	SMART
coiled coil region	981	1005	N/A	INTRINSIC
ZnF_C2H2	1039	1063	2.75e-3	SMART
low complexity region	1092	1106	N/A	INTRINSIC
ZnF_C2H2	1112	1134	1.1e-2	SMART
low complexity region	1135	1156	N/A	INTRINSIC
low complexity region	1182	1200	N/A	INTRINSIC
low complexity region	1208	1222	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191153

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732471J01Rik	T	C	7: 25,084,313 (GRCm39)		probably benign	Het
Abra	T	C	15: 41,732,640 (GRCm39)	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,184,101 (GRCm39)	N199D	probably damaging	Het
Baz2b	A	T	2: 59,753,933 (GRCm39)	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,013,085 (GRCm39)	I312V	probably damaging	Het
Chrd	A	G	16: 20,554,541 (GRCm39)	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,331,539 (GRCm39)	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,460,389 (GRCm39)		probably null	Het
Cntnap3	A	T	13: 64,899,565 (GRCm39)	M976K	probably benign	Het
Cyp27b1	T	C	10: 126,886,543 (GRCm39)		probably benign	Het
Ddx54	T	A	5: 120,757,852 (GRCm39)	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,674,556 (GRCm39)	V407A	probably benign	Het
Elp4	A	G	2: 105,624,937 (GRCm39)	S201P	probably damaging	Het
Exoc3	A	T	13: 74,340,880 (GRCm39)	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671 (GRCm39)	I117T	probably damaging	Het
Gbx2	A	T	1: 89,856,871 (GRCm39)		probably benign	Het
Hnf1b	A	C	11: 83,773,559 (GRCm39)	T253P	possibly damaging	Het
Inhca	A	G	9: 103,140,273 (GRCm39)	V482A	probably benign	Het
Itih5	A	T	2: 10,191,786 (GRCm39)	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,781,159 (GRCm39)	N677S	probably benign	Het
Knstrn	T	A	2: 118,654,269 (GRCm39)		probably null	Het
Lin9	G	T	1: 180,515,583 (GRCm39)	C451F	probably damaging	Het
Mast1	A	C	8: 85,638,883 (GRCm39)	V1482G	probably benign	Het
Mroh4	A	G	15: 74,497,390 (GRCm39)	F144L	probably benign	Het
Myrf	T	C	19: 10,191,504 (GRCm39)	N945D	probably benign	Het
Nfrkb	G	A	9: 31,300,308 (GRCm39)	G33D	probably benign	Het
Or5m9b	C	A	2: 85,905,132 (GRCm39)	T16K	probably damaging	Het
P2ry13	T	C	3: 59,116,886 (GRCm39)	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,647,645 (GRCm39)		probably null	Het
Pitpnm3	A	G	11: 71,942,684 (GRCm39)	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,048,643 (GRCm39)	R266W	probably damaging	Het
Rcn3	T	C	7: 44,732,757 (GRCm39)	S304G	probably benign	Het
Rinl	A	G	7: 28,494,397 (GRCm39)		probably null	Het
Sema5a	T	C	15: 32,682,445 (GRCm39)		probably benign	Het
Sipa1l2	A	G	8: 126,207,008 (GRCm39)	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,734,826 (GRCm39)	I656T	probably benign	Het
Sptan1	A	G	2: 29,920,752 (GRCm39)	K2404R	probably damaging	Het
Tars3	C	A	7: 65,310,913 (GRCm39)	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,652,562 (GRCm39)	V627I	possibly damaging	Het
Tdpoz8	A	G	3: 92,981,354 (GRCm39)	D124G	possibly damaging	Het
Tfcp2	A	T	15: 100,410,185 (GRCm39)	V394D	probably damaging	Het
Ucp2	A	G	7: 100,147,591 (GRCm39)	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,284,453 (GRCm39)	Q498R	probably benign	Het
Yeats2	T	A	16: 19,969,221 (GRCm39)	I4N	probably damaging	Het
Zfp574	T	G	7: 24,779,014 (GRCm39)	I12S	possibly damaging	Het
Zscan29	T	A	2: 120,994,314 (GRCm39)	E522V	probably benign	Het

Other mutations in Trerf1

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01610:Trerf1	APN	17	47,630,501 (GRCm39)	unclassified	noncoding transcript
IGL01753:Trerf1	APN	17	47,626,362 (GRCm39)	exon	noncoding transcript
IGL02172:Trerf1	APN	17	47,628,743 (GRCm39)	exon	noncoding transcript
IGL02266:Trerf1	APN	17	47,626,331 (GRCm39)	exon	noncoding transcript
IGL02613:Trerf1	APN	17	47,659,766 (GRCm39)	exon	noncoding transcript
R0179:Trerf1	UTSW	17	47,627,588 (GRCm39)	critical splice donor site	noncoding transcript
R0284:Trerf1	UTSW	17	47,630,471 (GRCm39)	unclassified	noncoding transcript
R0359:Trerf1	UTSW	17	47,652,062 (GRCm39)	exon	noncoding transcript
R0689:Trerf1	UTSW	17	47,630,300 (GRCm39)	unclassified	noncoding transcript
R1460:Trerf1	UTSW	17	47,628,771 (GRCm39)	exon	noncoding transcript
R1727:Trerf1	UTSW	17	47,652,092 (GRCm39)	exon	noncoding transcript
R4222:Trerf1	UTSW	17	47,625,727 (GRCm39)	exon	noncoding transcript
R4562:Trerf1	UTSW	17	47,637,997 (GRCm39)	exon	noncoding transcript
R4770:Trerf1	UTSW	17	47,630,581 (GRCm39)	unclassified	noncoding transcript
R5366:Trerf1	UTSW	17	47,626,116 (GRCm39)	exon	noncoding transcript
R5919:Trerf1	UTSW	17	47,634,208 (GRCm39)	unclassified	noncoding transcript
R5963:Trerf1	UTSW	17	47,625,263 (GRCm39)	exon	noncoding transcript
R5975:Trerf1	UTSW	17	47,625,197 (GRCm39)	exon	noncoding transcript

Posted On

2015-04-16