Incidental Mutation 'IGL03004:Rtf1'
| ID |
407494 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rtf1
|
| Ensembl Gene |
ENSMUSG00000027304 |
| Gene Name |
RTF1, Paf1/RNA polymerase II complex component |
| Synonyms |
Gtl7, 2900005O08Rik, 6530416A09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119505549-119565888 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 119531754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028767]
|
| AlphaFold |
A2AQ19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028767
|
| SMART Domains |
Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
182 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
350 |
N/A |
INTRINSIC |
|
Plus3
|
358 |
466 |
2.23e-56 |
SMART |
|
coiled coil region
|
529 |
565 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atrx |
A |
T |
X: 104,876,115 (GRCm39) |
C78* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,919,180 (GRCm39) |
N1999K |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,019,826 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,413 (GRCm39) |
R313Q |
probably benign |
Het |
| Clip3 |
A |
G |
7: 29,991,789 (GRCm39) |
Y55C |
probably damaging |
Het |
| Ddit4l |
A |
G |
3: 137,331,966 (GRCm39) |
N111D |
probably benign |
Het |
| Eprs1 |
T |
G |
1: 185,114,030 (GRCm39) |
M326R |
probably damaging |
Het |
| F8 |
C |
T |
X: 74,255,658 (GRCm39) |
G2045D |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,555,738 (GRCm39) |
|
probably benign |
Het |
| Gm10577 |
T |
C |
4: 100,877,526 (GRCm39) |
|
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,648,205 (GRCm39) |
S133P |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,316,952 (GRCm39) |
F736V |
possibly damaging |
Het |
| Klf8 |
T |
C |
X: 152,165,716 (GRCm39) |
L95P |
probably damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,412,631 (GRCm39) |
V247A |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,919,413 (GRCm39) |
Y6211H |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,194 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,615,300 (GRCm39) |
Y187H |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,956,687 (GRCm39) |
|
probably benign |
Het |
| Ranbp3 |
T |
A |
17: 57,014,207 (GRCm39) |
V246E |
probably damaging |
Het |
| Sema3b |
G |
A |
9: 107,480,114 (GRCm39) |
P208L |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,205,881 (GRCm39) |
D416G |
possibly damaging |
Het |
| Spam1 |
T |
C |
6: 24,796,913 (GRCm39) |
V288A |
probably damaging |
Het |
| Stac |
A |
C |
9: 111,431,608 (GRCm39) |
S248A |
probably benign |
Het |
| Tmem178b |
C |
A |
6: 40,222,515 (GRCm39) |
R77S |
probably damaging |
Het |
| Vegfd |
T |
C |
X: 163,185,104 (GRCm39) |
L352P |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,702 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,772 (GRCm39) |
|
probably benign |
Het |
| Vsig10 |
A |
G |
5: 117,463,140 (GRCm39) |
Y122C |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,518,766 (GRCm39) |
V121E |
probably damaging |
Het |
| Zrsr2 |
T |
C |
X: 162,722,397 (GRCm39) |
Q285R |
probably benign |
Het |
|
| Other mutations in Rtf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Rtf1
|
APN |
2 |
119,542,589 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02010:Rtf1
|
APN |
2 |
119,531,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02336:Rtf1
|
APN |
2 |
119,559,226 (GRCm39) |
splice site |
probably benign |
|
|
R0127:Rtf1
|
UTSW |
2 |
119,557,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Rtf1
|
UTSW |
2 |
119,563,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1014:Rtf1
|
UTSW |
2 |
119,550,727 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1387:Rtf1
|
UTSW |
2 |
119,536,126 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1760:Rtf1
|
UTSW |
2 |
119,558,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2114:Rtf1
|
UTSW |
2 |
119,535,999 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2115:Rtf1
|
UTSW |
2 |
119,535,999 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2117:Rtf1
|
UTSW |
2 |
119,535,999 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2342:Rtf1
|
UTSW |
2 |
119,542,598 (GRCm39) |
missense |
probably benign |
|
|
R4552:Rtf1
|
UTSW |
2 |
119,561,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4801:Rtf1
|
UTSW |
2 |
119,505,709 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4802:Rtf1
|
UTSW |
2 |
119,505,709 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4843:Rtf1
|
UTSW |
2 |
119,536,017 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5539:Rtf1
|
UTSW |
2 |
119,560,405 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6250:Rtf1
|
UTSW |
2 |
119,505,658 (GRCm39) |
missense |
unknown |
|
|
R6960:Rtf1
|
UTSW |
2 |
119,541,559 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7282:Rtf1
|
UTSW |
2 |
119,505,580 (GRCm39) |
missense |
unknown |
|
|
R8120:Rtf1
|
UTSW |
2 |
119,531,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8236:Rtf1
|
UTSW |
2 |
119,531,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8961:Rtf1
|
UTSW |
2 |
119,557,377 (GRCm39) |
missense |
probably benign |
|
|
R9718:Rtf1
|
UTSW |
2 |
119,535,986 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0026:Rtf1
|
UTSW |
2 |
119,557,269 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2016-08-02 |
Incidental Mutation