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

Trep132, 9430096I18Rik, Trep-132

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

47140875-47361958 bp(+) (GRCm38)

Type of Mutation

exon

DNA Base Change (assembly)

C to T at 47314461 bp (GRCm38)

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
1300017J02Rik	A	G	9: 103,263,074 (GRCm38)	V482A	probably benign	Het
4732471J01Rik	T	C	7: 25,384,888 (GRCm38)		probably benign	Het
Abra	T	C	15: 41,869,244 (GRCm38)	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,356,532 (GRCm38)	N199D	probably damaging	Het
Baz2b	A	T	2: 59,923,589 (GRCm38)	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,085,347 (GRCm38)	I312V	probably damaging	Het
Chrd	A	G	16: 20,735,791 (GRCm38)	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,354,576 (GRCm38)	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,471,950 (GRCm38)		probably null	Het
Cntnap3	A	T	13: 64,751,751 (GRCm38)	M976K	probably benign	Het
Cyp27b1	T	C	10: 127,050,674 (GRCm38)		probably benign	Het
Ddx54	T	A	5: 120,619,787 (GRCm38)	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,635,397 (GRCm38)	V407A	probably benign	Het
Elp4	A	G	2: 105,794,592 (GRCm38)	S201P	probably damaging	Het
Exoc3	A	T	13: 74,192,761 (GRCm38)	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671 (GRCm38)	I117T	probably damaging	Het
Gbx2	A	T	1: 89,929,149 (GRCm38)		probably benign	Het
Gm4858	A	G	3: 93,074,047 (GRCm38)	D124G	possibly damaging	Het
Hnf1b	A	C	11: 83,882,733 (GRCm38)	T253P	possibly damaging	Het
Itih5	A	T	2: 10,186,975 (GRCm38)	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,710,935 (GRCm38)	N677S	probably benign	Het
Knstrn	T	A	2: 118,823,788 (GRCm38)		probably null	Het
Lin9	G	T	1: 180,688,018 (GRCm38)	C451F	probably damaging	Het
Mast1	A	C	8: 84,912,254 (GRCm38)	V1482G	probably benign	Het
Mroh4	A	G	15: 74,625,541 (GRCm38)	F144L	probably benign	Het
Myrf	T	C	19: 10,214,140 (GRCm38)	N945D	probably benign	Het
Nfrkb	G	A	9: 31,389,012 (GRCm38)	G33D	probably benign	Het
Olfr1036	C	A	2: 86,074,788 (GRCm38)	T16K	probably damaging	Het
P2ry13	T	C	3: 59,209,465 (GRCm38)	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,514,592 (GRCm38)		probably null	Het
Pitpnm3	A	G	11: 72,051,858 (GRCm38)	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,137,348 (GRCm38)	R266W	probably damaging	Het
Rcn3	T	C	7: 45,083,333 (GRCm38)	S304G	probably benign	Het
Rinl	A	G	7: 28,794,972 (GRCm38)		probably null	Het
Sema5a	T	C	15: 32,682,299 (GRCm38)		probably benign	Het
Sipa1l2	A	G	8: 125,480,269 (GRCm38)	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,877,629 (GRCm38)	I656T	probably benign	Het
Sptan1	A	G	2: 30,030,740 (GRCm38)	K2404R	probably damaging	Het
Tarsl2	C	A	7: 65,661,165 (GRCm38)	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,495,218 (GRCm38)	V627I	possibly damaging	Het
Tfcp2	A	T	15: 100,512,304 (GRCm38)	V394D	probably damaging	Het
Ucp2	A	G	7: 100,498,384 (GRCm38)	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,064,191 (GRCm38)	Q498R	probably benign	Het
Yeats2	T	A	16: 20,150,471 (GRCm38)	I4N	probably damaging	Het
Zfp574	T	G	7: 25,079,589 (GRCm38)	I12S	possibly damaging	Het
Zscan29	T	A	2: 121,163,833 (GRCm38)	E522V	probably benign	Het

Other mutations in Trerf1

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01610:Trerf1	APN	17	47,319,575 (GRCm38)	unclassified	noncoding transcript
IGL01753:Trerf1	APN	17	47,315,436 (GRCm38)	exon	noncoding transcript
IGL02172:Trerf1	APN	17	47,317,817 (GRCm38)	exon	noncoding transcript
IGL02266:Trerf1	APN	17	47,315,405 (GRCm38)	exon	noncoding transcript
IGL02613:Trerf1	APN	17	47,348,840 (GRCm38)	exon	noncoding transcript
R0179:Trerf1	UTSW	17	47,316,662 (GRCm38)	critical splice donor site	noncoding transcript
R0284:Trerf1	UTSW	17	47,319,545 (GRCm38)	unclassified	noncoding transcript
R0359:Trerf1	UTSW	17	47,341,136 (GRCm38)	exon	noncoding transcript
R0689:Trerf1	UTSW	17	47,319,374 (GRCm38)	unclassified	noncoding transcript
R1460:Trerf1	UTSW	17	47,317,845 (GRCm38)	exon	noncoding transcript
R1727:Trerf1	UTSW	17	47,341,166 (GRCm38)	exon	noncoding transcript
R4222:Trerf1	UTSW	17	47,314,801 (GRCm38)	exon	noncoding transcript
R4562:Trerf1	UTSW	17	47,327,071 (GRCm38)	exon	noncoding transcript
R4770:Trerf1	UTSW	17	47,319,655 (GRCm38)	unclassified	noncoding transcript
R5366:Trerf1	UTSW	17	47,315,190 (GRCm38)	exon	noncoding transcript
R5919:Trerf1	UTSW	17	47,323,282 (GRCm38)	unclassified	noncoding transcript
R5963:Trerf1	UTSW	17	47,314,337 (GRCm38)	exon	noncoding transcript
R5975:Trerf1	UTSW	17	47,314,271 (GRCm38)	exon	noncoding transcript

Posted On

2015-04-16