Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Trerf1'

471908

Institutional Source

Beutler Lab

Gene Symbol

Trerf1

Ensembl Gene

ENSMUSG00000064043

Gene Name

transcriptional regulating factor 1

Synonyms

9430096I18Rik, Trep-132, Trep132

MMRRC Submission

044148-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R5963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47451801-47672883 bp(+) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

C to T at 47625263 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

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,029,037 (GRCm39)	K131E	probably benign	Het
Ank3	T	A	10: 69,823,056 (GRCm39)	L575*	probably null	Het
Aqr	T	C	2: 113,957,442 (GRCm39)	T819A	probably damaging	Het
Bbs2	A	T	8: 94,807,659 (GRCm39)	S407T	probably benign	Het
Bmper	T	A	9: 23,286,889 (GRCm39)	C272S	probably benign	Het
Btbd9	C	T	17: 30,553,192 (GRCm39)		probably null	Het
C5ar1	A	G	7: 15,982,747 (GRCm39)	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,411,579 (GRCm39)	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,734,013 (GRCm39)	V1451E	probably benign	Het
Cfap46	T	A	7: 139,231,511 (GRCm39)	M901L	probably damaging	Het
Cherp	G	T	8: 73,215,379 (GRCm39)		probably benign	Het
D430041D05Rik	C	T	2: 104,078,630 (GRCm39)	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,064,696 (GRCm39)	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,351,480 (GRCm39)	F243L	probably damaging	Het
Garem1	T	A	18: 21,262,487 (GRCm39)	I776F	probably benign	Het
Gpr87	T	A	3: 59,086,690 (GRCm39)	R272*	probably null	Het
Gsdmc	A	T	15: 63,651,965 (GRCm39)		probably null	Het
Hydin	T	A	8: 111,220,926 (GRCm39)	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,957,369 (GRCm39)	C63*	probably null	Het
Kdm4b	A	T	17: 56,706,732 (GRCm39)	T908S	probably damaging	Het
Lipn	A	G	19: 34,058,700 (GRCm39)	D304G	probably damaging	Het
Man2a1	T	G	17: 64,982,117 (GRCm39)	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,676,544 (GRCm39)	H66N	probably damaging	Het
Mog	G	A	17: 37,323,240 (GRCm39)	R233*	probably null	Het
Mrps24	A	T	11: 5,657,481 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,642,768 (GRCm39)	L423P	probably damaging	Het
Or51b6	T	A	7: 103,556,168 (GRCm39)	V174E	probably benign	Het
Pcdha1	T	A	18: 37,064,224 (GRCm39)	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,746,656 (GRCm39)	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,746,657 (GRCm39)	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,239,780 (GRCm39)	V63D	probably damaging	Het
Pnn	C	T	12: 59,114,617 (GRCm39)	R56*	probably null	Het
Primpol	T	A	8: 47,046,615 (GRCm39)	E227V	possibly damaging	Het
Rad54l	A	T	4: 115,967,584 (GRCm39)	W233R	probably damaging	Het
Rims2	A	T	15: 39,300,578 (GRCm39)	D103V	probably damaging	Het
Rttn	T	C	18: 89,091,819 (GRCm39)	S1511P	probably benign	Het
Septin5	T	C	16: 18,442,962 (GRCm39)		probably null	Het
Simc1	T	A	13: 54,673,632 (GRCm39)	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,056,691 (GRCm39)	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,721,196 (GRCm39)	S55G	possibly damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slitrk3	A	G	3: 72,958,046 (GRCm39)	V242A	probably benign	Het
St14	A	T	9: 31,017,853 (GRCm39)		probably benign	Het
Tnnt2	T	C	1: 135,771,600 (GRCm39)		probably benign	Het
Traf5	G	A	1: 191,731,977 (GRCm39)	T288I	probably benign	Het
Vegfc	A	G	8: 54,634,319 (GRCm39)	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,011,608 (GRCm39)	I209F	probably damaging	Het
Vps51	A	G	19: 6,118,320 (GRCm39)	L725P	probably damaging	Het
Vps8	T	C	16: 21,288,871 (GRCm39)	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,052,310 (GRCm39)	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,831,918 (GRCm39)	E164G	probably damaging	Het
Zcchc14	A	T	8: 122,355,362 (GRCm39)		probably benign	Het
Zfp383	A	G	7: 29,615,103 (GRCm39)	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,476,378 (GRCm39)	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,745,931 (GRCm39)		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
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
R5975:Trerf1	UTSW	17	47,625,197 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- GGTGGTGAGAACCTCTTCTATC -3'
(R):5'- GGGTGAAAGAGTCCAGCTTG -3'

Sequencing Primer
(F):5'- GTGGTGAGAACCTCTTCTATCAACAG -3'
(R):5'- GAGTCCAGCTTGTGCAAAAC -3'

Posted On

2017-03-31