Incidental Mutation 'R1014:Rtf1'
ID |
95963 |
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 |
039118-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1014 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
119505549-119565888 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 119550727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 329
(S329A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028767]
|
AlphaFold |
A2AQ19 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028767
AA Change: S329A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028767 Gene: ENSMUSG00000027304 AA Change: S329A
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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.8%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago4 |
T |
C |
4: 126,400,578 (GRCm39) |
R712G |
probably damaging |
Het |
Arg1 |
C |
A |
10: 24,792,758 (GRCm39) |
V159L |
probably benign |
Het |
Caap1 |
C |
T |
4: 94,437,383 (GRCm39) |
C193Y |
probably benign |
Het |
Cdh12 |
A |
T |
15: 21,492,706 (GRCm39) |
M242L |
probably damaging |
Het |
Col19a1 |
A |
T |
1: 24,340,354 (GRCm39) |
|
probably null |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,088,674 (GRCm39) |
T101A |
possibly damaging |
Het |
Dll4 |
T |
C |
2: 119,161,638 (GRCm39) |
C407R |
probably damaging |
Het |
Ebf4 |
T |
C |
2: 130,207,388 (GRCm39) |
S484P |
probably benign |
Het |
Gm10300 |
A |
G |
4: 131,802,023 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
C |
13: 13,808,645 (GRCm39) |
I105T |
possibly damaging |
Het |
Mrgprx2 |
A |
G |
7: 48,132,306 (GRCm39) |
|
probably null |
Het |
Musk |
T |
C |
4: 58,354,156 (GRCm39) |
L403P |
possibly damaging |
Het |
Myh11 |
T |
C |
16: 14,054,274 (GRCm39) |
K363R |
possibly damaging |
Het |
Nadk2 |
T |
C |
15: 9,091,334 (GRCm39) |
F202L |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nup210l |
C |
T |
3: 90,077,355 (GRCm39) |
T897M |
possibly damaging |
Het |
Or52h9 |
T |
C |
7: 104,202,383 (GRCm39) |
W86R |
probably damaging |
Het |
Pcdh17 |
A |
G |
14: 84,684,928 (GRCm39) |
D465G |
probably damaging |
Het |
Pcdhb11 |
T |
A |
18: 37,556,422 (GRCm39) |
L584Q |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,455,303 (GRCm39) |
L561P |
probably damaging |
Het |
Pck2 |
A |
G |
14: 55,779,867 (GRCm39) |
S12G |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,353 (GRCm39) |
D726G |
probably damaging |
Het |
Pcsk5 |
G |
T |
19: 17,542,194 (GRCm39) |
A799E |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,662,739 (GRCm39) |
Y117C |
probably benign |
Het |
Poldip2 |
T |
A |
11: 78,405,988 (GRCm39) |
D106E |
probably damaging |
Het |
Ppm1d |
C |
A |
11: 85,227,980 (GRCm39) |
H299N |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,000,643 (GRCm39) |
Y911C |
probably damaging |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Slc12a2 |
T |
C |
18: 58,054,882 (GRCm39) |
I841T |
probably benign |
Het |
Slc2a3 |
T |
C |
6: 122,708,525 (GRCm39) |
I367V |
possibly damaging |
Het |
Slc30a8 |
A |
G |
15: 52,194,993 (GRCm39) |
T251A |
probably damaging |
Het |
Spryd3 |
T |
A |
15: 102,041,966 (GRCm39) |
N19Y |
probably damaging |
Het |
Tll2 |
A |
T |
19: 41,092,290 (GRCm39) |
Y516N |
probably damaging |
Het |
Tlr5 |
G |
A |
1: 182,803,242 (GRCm39) |
G849R |
probably benign |
Het |
Wdr64 |
A |
G |
1: 175,583,192 (GRCm39) |
E376G |
probably damaging |
Het |
Zfp318 |
GAA |
GAANAA |
17: 46,723,462 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-05 |