Incidental Mutation 'R5539:Rtf1'
| ID |
435808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtf1
|
| Ensembl Gene |
ENSMUSG00000027304 |
| Gene Name |
RTF1, Paf1/RNA polymerase II complex component |
| Synonyms |
Gtl7, 2900005O08Rik, 6530416A09Rik |
| MMRRC Submission |
043097-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5539 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119505549-119565888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119560405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 596
(M596V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028767]
|
| AlphaFold |
A2AQ19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028767
AA Change: M596V
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304
AA Change: M596V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126984
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,555,917 (GRCm39) |
S44C |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,963,557 (GRCm39) |
I846V |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,111,932 (GRCm39) |
L144H |
probably benign |
Het |
| Ccdc141 |
A |
T |
2: 76,845,437 (GRCm39) |
I1210N |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,191,587 (GRCm39) |
T330A |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,964,486 (GRCm39) |
K2444E |
probably benign |
Het |
| Dnajc3 |
G |
A |
14: 119,208,159 (GRCm39) |
V265M |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,753 (GRCm39) |
Y2222N |
unknown |
Het |
| Flnc |
G |
T |
6: 29,446,229 (GRCm39) |
G882V |
probably damaging |
Het |
| Fndc5 |
T |
A |
4: 129,032,514 (GRCm39) |
V39D |
probably damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,281,758 (GRCm39) |
H371L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,030,438 (GRCm39) |
H33L |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,646 (GRCm39) |
|
noncoding transcript |
Het |
| Kri1 |
G |
A |
9: 21,190,668 (GRCm39) |
Q280* |
probably null |
Het |
| Lcp1 |
T |
C |
14: 75,466,738 (GRCm39) |
V615A |
probably benign |
Het |
| Ltbp4 |
T |
C |
7: 27,027,149 (GRCm39) |
Y407C |
probably damaging |
Het |
| Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,164,317 (GRCm39) |
V416A |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,044,898 (GRCm39) |
R1607C |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,056,525 (GRCm39) |
|
probably null |
Het |
| Ntf5 |
G |
T |
7: 45,065,354 (GRCm39) |
R162L |
probably benign |
Het |
| Nxpe3 |
A |
G |
16: 55,711,034 (GRCm39) |
W2R |
possibly damaging |
Het |
| Or10d1c |
T |
C |
9: 38,893,573 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or14j4 |
T |
A |
17: 37,921,646 (GRCm39) |
M1L |
probably benign |
Het |
| Or1m1 |
G |
A |
9: 18,666,134 (GRCm39) |
R266C |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,433 (GRCm39) |
C115S |
probably benign |
Het |
| Pan2 |
C |
A |
10: 128,144,002 (GRCm39) |
D99E |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,797 (GRCm39) |
H776R |
possibly damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,264 (GRCm39) |
H1342R |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,394,464 (GRCm39) |
T1800A |
probably benign |
Het |
| Prss40 |
T |
C |
1: 34,591,760 (GRCm39) |
*148W |
probably null |
Het |
| Pygo1 |
C |
T |
9: 72,852,061 (GRCm39) |
P83S |
probably damaging |
Het |
| Raf1 |
G |
T |
6: 115,596,317 (GRCm39) |
S619R |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,829,126 (GRCm39) |
D578E |
possibly damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,153,737 (GRCm39) |
V18A |
probably damaging |
Het |
| Spata31 |
T |
A |
13: 65,070,783 (GRCm39) |
I977K |
probably benign |
Het |
| Tor2a |
T |
C |
2: 32,650,672 (GRCm39) |
I222T |
probably damaging |
Het |
| Trim23 |
T |
C |
13: 104,334,541 (GRCm39) |
V347A |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,851,386 (GRCm39) |
S893P |
probably damaging |
Het |
| Trmt10c |
G |
A |
16: 55,855,324 (GRCm39) |
P104S |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,850,877 (GRCm39) |
Y1765F |
probably damaging |
Het |
| Zfp951 |
C |
T |
5: 104,962,712 (GRCm39) |
E285K |
probably damaging |
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 |
|
|
IGL03004:Rtf1
|
APN |
2 |
119,531,754 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCTAGCTGTTGGGGAAG -3'
(R):5'- AGACCCAAGCTTGAGGCAAG -3'
Sequencing Primer
(F):5'- AACCCAGGTCTTATGAGTGC -3'
(R):5'- CTTGAGGCAAGCAAATCCCAGTTAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation