Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02172:Trerf1'

282922

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 #

IGL02172

Quality Score

Status

Chromosome

Chromosomal Location

47451801-47672883 bp(+) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

A to T at 47628743 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,341,817 (GRCm39)	V1048A	probably benign	Het
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Arhgef26	T	C	3: 62,367,097 (GRCm39)	V810A	probably benign	Het
Atf1	T	A	15: 100,152,322 (GRCm39)	V105E	probably damaging	Het
Bbs9	C	T	9: 22,490,772 (GRCm39)	T300I	possibly damaging	Het
Bltp1	T	C	3: 37,059,022 (GRCm39)	V3236A	probably damaging	Het
Brd7	G	T	8: 89,078,452 (GRCm39)	H226Q	probably benign	Het
Cadps	T	C	14: 12,705,681 (GRCm38)	K238R	probably damaging	Het
Chordc1	A	G	9: 18,213,388 (GRCm39)	T80A	possibly damaging	Het
Clca4a	A	T	3: 144,676,155 (GRCm39)	C126*	probably null	Het
Col24a1	A	T	3: 145,020,723 (GRCm39)	T365S	probably benign	Het
Crb1	C	T	1: 139,164,965 (GRCm39)	G1053D	probably damaging	Het
Creb3l4	A	T	3: 90,150,082 (GRCm39)	S20T	probably benign	Het
Cyp2c67	C	T	19: 39,637,446 (GRCm39)	C10Y	possibly damaging	Het
Dhdh	A	T	7: 45,125,041 (GRCm39)	C294S	probably damaging	Het
Fam135a	A	G	1: 24,063,861 (GRCm39)		probably null	Het
Fsd1	G	T	17: 56,297,244 (GRCm39)		probably benign	Het
Gatad2b	A	G	3: 90,262,978 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,680,382 (GRCm39)	D232G	probably damaging	Het
Gm10553	T	C	1: 85,078,015 (GRCm39)	L44P	probably damaging	Het
Hecw1	T	C	13: 14,438,734 (GRCm39)	Y883C	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Ift172	T	C	5: 31,438,681 (GRCm39)		probably benign	Het
Krtcap3	A	C	5: 31,409,397 (GRCm39)	T55P	probably damaging	Het
Megf6	A	G	4: 154,355,149 (GRCm39)	D1488G	probably damaging	Het
Mrpl1	T	C	5: 96,379,574 (GRCm39)	V203A	probably damaging	Het
Myh2	A	T	11: 67,079,878 (GRCm39)	D1084V	possibly damaging	Het
Necap2	T	A	4: 140,805,621 (GRCm39)		probably benign	Het
Nemp1	A	G	10: 127,528,868 (GRCm39)	S191G	probably benign	Het
Nrip1	T	C	16: 76,088,380 (GRCm39)	D1059G	probably damaging	Het
Ntrk3	A	T	7: 78,110,020 (GRCm39)		probably benign	Het
Or51e1	G	A	7: 102,359,051 (GRCm39)	R195H	probably benign	Het
Or51f1d	A	G	7: 102,700,582 (GRCm39)	I26V	probably benign	Het
Prkdc	T	G	16: 15,627,623 (GRCm39)	V3427G	probably benign	Het
Ptprn2	A	T	12: 116,837,317 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,397,422 (GRCm39)	L1095H	probably damaging	Het
Ren1	T	A	1: 133,286,771 (GRCm39)	L300Q	possibly damaging	Het
Rgl3	A	G	9: 21,888,134 (GRCm39)	I460T	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Runx1t1	A	C	4: 13,859,924 (GRCm39)	Q265P	probably benign	Het
Sh3d21	A	G	4: 126,046,153 (GRCm39)	S282P	probably benign	Het
Slc39a13	T	C	2: 90,893,505 (GRCm39)	E318G	possibly damaging	Het
Srd5a3	T	C	5: 76,295,556 (GRCm39)	I82T	probably benign	Het
Stard7	C	A	2: 127,132,792 (GRCm39)	T220N	probably damaging	Het
Tbx4	G	A	11: 85,805,389 (GRCm39)	G493R	possibly damaging	Het
Trim59	T	A	3: 68,944,810 (GRCm39)	I177L	probably benign	Het
Trpm7	T	C	2: 126,637,248 (GRCm39)	M1789V	possibly damaging	Het
Tsc22d1	T	C	14: 76,655,132 (GRCm39)	V455A	probably benign	Het
Vmn2r118	C	A	17: 55,931,598 (GRCm39)	M25I	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wdr90	G	A	17: 26,069,408 (GRCm39)	T1233I	probably benign	Het
Zcchc2	G	A	1: 105,928,664 (GRCm39)	D308N	probably benign	Het
Zfp57	G	T	17: 37,320,481 (GRCm39)	V112L	possibly damaging	Het
Zfp874b	A	T	13: 67,622,135 (GRCm39)	Y388N	probably damaging	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
IGL02266:Trerf1	APN	17	47,626,331 (GRCm39)	exon	noncoding transcript
IGL02370:Trerf1	APN	17	47,625,387 (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