Incidental Mutation 'IGL01753:Trerf1'
| ID |
153153 |
| 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)
|
| Stock # |
IGL01753
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
47451801-47672883 bp(+) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
T to A
at 47626362 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,599,112 (GRCm39) |
F163L |
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,212,799 (GRCm39) |
T60A |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,082,776 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,438 (GRCm39) |
Y118C |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,087,015 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,179,169 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Crppa |
C |
T |
12: 36,523,176 (GRCm39) |
L202F |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,173 (GRCm39) |
F480I |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,038,656 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,530,906 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,390,677 (GRCm39) |
Y830H |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,548 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv12-41 |
T |
C |
6: 69,835,510 (GRCm39) |
R81G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,067,794 (GRCm39) |
S1766T |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,708,483 (GRCm39) |
V1670I |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,350,274 (GRCm39) |
F124L |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,557,598 (GRCm39) |
Q187* |
probably null |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pif1 |
G |
A |
9: 65,500,590 (GRCm39) |
G505D |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,287,413 (GRCm39) |
I495F |
probably benign |
Het |
| Ppp1r21 |
T |
C |
17: 88,869,530 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,444,802 (GRCm39) |
I282V |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,479,146 (GRCm39) |
I669N |
possibly damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,180,031 (GRCm39) |
|
probably benign |
Het |
| Top2a |
T |
A |
11: 98,898,100 (GRCm39) |
T689S |
probably damaging |
Het |
| Uso1 |
T |
C |
5: 92,300,777 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,674,139 (GRCm39) |
V399E |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,217 (GRCm39) |
I390V |
probably benign |
Het |
| Zfp90 |
C |
T |
8: 107,150,782 (GRCm39) |
T165I |
probably benign |
Het |
|
| Other mutations in Trerf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01610:Trerf1
|
APN |
17 |
47,630,501 (GRCm39) |
unclassified |
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 |
|
|
R5963:Trerf1
|
UTSW |
17 |
47,625,263 (GRCm39) |
exon |
noncoding transcript |
|
|
R5975:Trerf1
|
UTSW |
17 |
47,625,197 (GRCm39) |
exon |
noncoding transcript |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation