Incidental Mutation 'R5975:Trerf1'
ID 471730
Institutional Source Beutler Lab
Gene Symbol Trerf1
Ensembl Gene ENSMUSG00000064043
Gene Name transcriptional regulating factor 1
Synonyms Trep132, 9430096I18Rik, Trep-132
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.548) question?
Stock # R5975 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 47140875-47361958 bp(+) (GRCm38)
Type of Mutation exon
DNA Base Change (assembly) A to T at 47314271 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

DomainStartEndE-ValueType
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: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (80/82)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 36,969,221 T2233I possibly damaging Het
9430038I01Rik T C 7: 137,387,292 probably benign Het
Abhd14a A T 9: 106,443,951 probably null Het
Actn2 T C 13: 12,340,497 N2D probably benign Het
Adcy9 T C 16: 4,311,567 E722G probably damaging Het
Alox12 C A 11: 70,242,783 V572L possibly damaging Het
Ankrd11 T C 8: 122,889,749 I2434V possibly damaging Het
Anks1 T A 17: 27,991,447 probably null Het
Bpifa3 T A 2: 154,136,321 S148T probably damaging Het
Bptf C T 11: 107,035,864 probably benign Het
Cabin1 A T 10: 75,657,839 L1655H probably damaging Het
Ccdc13 G T 9: 121,827,235 Q171K probably benign Het
Ccdc33 T A 9: 58,117,478 Q155L possibly damaging Het
Cckbr G A 7: 105,470,619 G280E probably benign Het
Cdk11b G A 4: 155,648,240 probably benign Het
Celsr1 G T 15: 85,919,038 probably null Het
Cenpj A T 14: 56,564,066 I150N possibly damaging Het
Cep135 C A 5: 76,640,890 A1110E possibly damaging Het
Chit1 C A 1: 134,146,626 H224N probably damaging Het
Cul5 T C 9: 53,622,793 R680G probably damaging Het
Dhx58 C A 11: 100,702,209 R224L probably damaging Het
Dlx1 C A 2: 71,531,009 N122K probably damaging Het
Dnah5 A C 15: 28,234,282 D279A probably damaging Het
Enpp3 A G 10: 24,774,842 W799R probably benign Het
Ercc5 A G 1: 44,173,406 T675A probably benign Het
Farsa T A 8: 84,864,432 probably null Het
Fbxw15 A T 9: 109,555,252 V397D probably damaging Het
Fcrl5 G A 3: 87,442,103 V62I probably benign Het
Gart A G 16: 91,624,336 S815P probably damaging Het
Glrx5 A G 12: 105,040,323 N111S possibly damaging Het
Gm10845 A G 14: 79,863,174 noncoding transcript Het
Gm11639 A G 11: 104,687,549 probably benign Het
Gm8882 A G 6: 132,362,073 S61P unknown Het
Gm9925 T A 18: 74,065,516 probably benign Het
Gsdme T C 6: 50,227,359 N206S probably benign Het
Helz2 T C 2: 181,231,050 S2459G probably benign Het
Hnrnpul1 A G 7: 25,754,359 S93P possibly damaging Het
Ints2 A T 11: 86,226,748 I716N possibly damaging Het
Lmnb2 G A 10: 80,905,128 Q248* probably null Het
Map3k7cl A G 16: 87,570,321 I32V probably benign Het
Mfsd4b4 A T 10: 39,892,470 I255N probably benign Het
Myh6 A G 14: 54,950,508 I1163T probably benign Het
Nphs1 A T 7: 30,466,115 T636S possibly damaging Het
Ntsr1 T A 2: 180,500,788 L124Q probably damaging Het
Obscn C T 11: 59,122,619 probably null Het
P4ha2 G A 11: 54,126,412 probably null Het
Pcdha9 T A 18: 36,999,111 V411D probably benign Het
Pkhd1l1 A T 15: 44,525,988 I1380F probably damaging Het
Plekha1 T C 7: 130,892,253 V106A probably benign Het
Plekhm1 A T 11: 103,376,691 V818E possibly damaging Het
Pprc1 T G 19: 46,065,370 probably benign Het
Prmt9 T C 8: 77,561,018 probably benign Het
Rab26 T C 17: 24,530,399 N193D possibly damaging Het
Rnf111 A G 9: 70,429,580 S942P probably damaging Het
Scgb2b18 T C 7: 33,173,225 T52A probably damaging Het
Syt3 C T 7: 44,392,763 Q349* probably null Het
Tas2r107 T C 6: 131,659,780 N102S probably benign Het
Tas2r126 T A 6: 42,435,000 Y156N possibly damaging Het
Tcaf2 A T 6: 42,642,778 I105N probably benign Het
Tet1 A C 10: 62,879,773 M81R probably benign Het
Togaram2 T C 17: 71,729,205 Y897H probably damaging Het
Ttn G A 2: 76,761,235 T12703I probably damaging Het
Unc79 A G 12: 103,125,626 K1735E possibly damaging Het
Usp54 G A 14: 20,583,351 T372I possibly damaging Het
Wdr24 T C 17: 25,827,128 S476P probably benign Het
Wdr78 G A 4: 103,049,589 P676S probably benign Het
Zbtb1 T C 12: 76,386,275 I345T possibly damaging Het
Zcrb1 T A 15: 93,395,615 I29L probably benign Het
Zfp341 T A 2: 154,630,441 C315S probably damaging Het
Zfp623 C A 15: 75,948,163 R323S probably benign Het
Zfp831 T A 2: 174,644,092 Y187N possibly damaging Het
Other mutations in Trerf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Trerf1 APN 17 47319575 unclassified noncoding transcript
IGL01753:Trerf1 APN 17 47315436 exon noncoding transcript
IGL02172:Trerf1 APN 17 47317817 exon noncoding transcript
IGL02266:Trerf1 APN 17 47315405 exon noncoding transcript
IGL02370:Trerf1 APN 17 47314461 exon noncoding transcript
IGL02613:Trerf1 APN 17 47348840 exon noncoding transcript
R0179:Trerf1 UTSW 17 47316662 critical splice donor site noncoding transcript
R0284:Trerf1 UTSW 17 47319545 unclassified noncoding transcript
R0359:Trerf1 UTSW 17 47341136 exon noncoding transcript
R0689:Trerf1 UTSW 17 47319374 unclassified noncoding transcript
R1460:Trerf1 UTSW 17 47317845 exon noncoding transcript
R1727:Trerf1 UTSW 17 47341166 exon noncoding transcript
R4222:Trerf1 UTSW 17 47314801 exon noncoding transcript
R4562:Trerf1 UTSW 17 47327071 exon noncoding transcript
R4770:Trerf1 UTSW 17 47319655 unclassified noncoding transcript
R5366:Trerf1 UTSW 17 47315190 exon noncoding transcript
R5919:Trerf1 UTSW 17 47323282 unclassified noncoding transcript
R5963:Trerf1 UTSW 17 47314337 exon noncoding transcript
Predicted Primers PCR Primer
(F):5'- GTACAAGACCAATCACGTGGG -3'
(R):5'- GAGTCCAGCTTGTGCAAAAC -3'

Sequencing Primer
(F):5'- GGTGGTGAGAACCTCTTCTA -3'
(R):5'- ATCTCGCTGGCCTGGGAATAAG -3'
Posted On 2017-03-31