Incidental Mutation 'R5216:Ctr9'
| ID |
403482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctr9
|
| Ensembl Gene |
ENSMUSG00000005609 |
| Gene Name |
CTR9 homolog, Paf1/RNA polymerase II complex component |
| Synonyms |
Sh2bp1, Tsp, Tsbp |
| MMRRC Submission |
042789-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5216 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
110628158-110655584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110644665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 560
(I560N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
| AlphaFold |
Q62018 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005749
AA Change: I560N
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: I560N
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
163 |
196 |
2.26e-3 |
SMART |
|
TPR
|
198 |
231 |
2e-4 |
SMART |
|
low complexity region
|
232 |
241 |
N/A |
INTRINSIC |
|
TPR
|
306 |
339 |
4.52e-3 |
SMART |
|
TPR
|
341 |
374 |
1.39e-3 |
SMART |
|
TPR
|
451 |
484 |
3.56e-1 |
SMART |
|
TPR
|
497 |
530 |
7.34e-3 |
SMART |
|
TPR
|
531 |
564 |
3.24e-4 |
SMART |
|
Blast:TPR
|
565 |
598 |
2e-14 |
BLAST |
|
TPR
|
681 |
714 |
9.03e-3 |
SMART |
|
TPR
|
717 |
750 |
1.6e1 |
SMART |
|
coiled coil region
|
828 |
889 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1005 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1050 |
N/A |
INTRINSIC |
|
low complexity region
|
1072 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1133 |
1159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157025
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
T |
12: 55,107,947 (GRCm39) |
V84D |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,863,705 (GRCm39) |
V220A |
probably benign |
Het |
| Actg1 |
A |
T |
11: 120,238,580 (GRCm39) |
M82K |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,975 (GRCm39) |
S103P |
probably benign |
Het |
| Aldh1b1 |
G |
T |
4: 45,803,652 (GRCm39) |
G397C |
probably damaging |
Het |
| Arhgef3 |
A |
G |
14: 27,123,799 (GRCm39) |
T507A |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,701,910 (GRCm39) |
D682G |
probably damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,159,102 (GRCm39) |
I783T |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,808 (GRCm39) |
I362V |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,920,465 (GRCm39) |
I168K |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,445 (GRCm39) |
Y2070N |
probably damaging |
Het |
| Cabp7 |
A |
G |
11: 4,688,873 (GRCm39) |
I199T |
probably damaging |
Het |
| Cacng5 |
A |
G |
11: 107,768,315 (GRCm39) |
F231L |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,415,729 (GRCm39) |
V413D |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,021,071 (GRCm39) |
E481K |
possibly damaging |
Het |
| Cspg4b |
G |
A |
13: 113,478,947 (GRCm39) |
C1497Y |
probably benign |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,833 (GRCm39) |
D230G |
probably damaging |
Het |
| Gramd4 |
G |
A |
15: 86,018,986 (GRCm39) |
|
probably null |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,594,695 (GRCm39) |
N317Y |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,346,757 (GRCm39) |
S623P |
probably benign |
Het |
| Klhl20 |
A |
G |
1: 160,921,249 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,549,755 (GRCm39) |
S640L |
probably damaging |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Mgll |
T |
A |
6: 88,743,311 (GRCm39) |
C110* |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,675,120 (GRCm39) |
N251D |
possibly damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,262 (GRCm39) |
S230T |
probably damaging |
Het |
| Or52k2 |
A |
G |
7: 102,254,028 (GRCm39) |
T156A |
probably benign |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Pfkl |
T |
G |
10: 77,845,504 (GRCm39) |
D5A |
probably damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,406,029 (GRCm39) |
Y9C |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,359,043 (GRCm39) |
Y417* |
probably null |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,867,098 (GRCm39) |
M94K |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,873,022 (GRCm39) |
T157A |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,478,118 (GRCm39) |
N102S |
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,661,149 (GRCm39) |
R101H |
probably damaging |
Het |
| Trmt2a |
A |
G |
16: 18,070,048 (GRCm39) |
D421G |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,090 (GRCm39) |
D57G |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,868,661 (GRCm39) |
L43P |
possibly damaging |
Het |
| Zfp113 |
C |
T |
5: 138,148,977 (GRCm39) |
D56N |
probably damaging |
Het |
| Zfp184 |
C |
T |
13: 22,134,406 (GRCm39) |
L69F |
probably damaging |
Het |
| Zyx |
T |
C |
6: 42,333,466 (GRCm39) |
V464A |
probably damaging |
Het |
|
| Other mutations in Ctr9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01603:Ctr9
|
APN |
7 |
110,648,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Ctr9
|
APN |
7 |
110,650,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02451:Ctr9
|
APN |
7 |
110,642,631 (GRCm39) |
nonsense |
probably null |
|
|
IGL03222:Ctr9
|
APN |
7 |
110,642,257 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0023:Ctr9
|
UTSW |
7 |
110,643,154 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0023:Ctr9
|
UTSW |
7 |
110,643,154 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0586:Ctr9
|
UTSW |
7 |
110,648,705 (GRCm39) |
splice site |
probably benign |
|
|
R0761:Ctr9
|
UTSW |
7 |
110,645,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0834:Ctr9
|
UTSW |
7 |
110,650,159 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1593:Ctr9
|
UTSW |
7 |
110,642,060 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1711:Ctr9
|
UTSW |
7 |
110,654,870 (GRCm39) |
missense |
unknown |
|
|
R1828:Ctr9
|
UTSW |
7 |
110,643,165 (GRCm39) |
splice site |
probably null |
|
|
R1838:Ctr9
|
UTSW |
7 |
110,651,510 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2037:Ctr9
|
UTSW |
7 |
110,646,014 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2171:Ctr9
|
UTSW |
7 |
110,646,117 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2512:Ctr9
|
UTSW |
7 |
110,646,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2850:Ctr9
|
UTSW |
7 |
110,652,653 (GRCm39) |
missense |
unknown |
|
|
R2851:Ctr9
|
UTSW |
7 |
110,652,653 (GRCm39) |
missense |
unknown |
|
|
R3124:Ctr9
|
UTSW |
7 |
110,652,653 (GRCm39) |
missense |
unknown |
|
|
R4049:Ctr9
|
UTSW |
7 |
110,654,750 (GRCm39) |
missense |
unknown |
|
|
R4280:Ctr9
|
UTSW |
7 |
110,645,930 (GRCm39) |
intron |
probably benign |
|
|
R4350:Ctr9
|
UTSW |
7 |
110,648,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Ctr9
|
UTSW |
7 |
110,648,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4460:Ctr9
|
UTSW |
7 |
110,646,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4740:Ctr9
|
UTSW |
7 |
110,634,578 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5039:Ctr9
|
UTSW |
7 |
110,642,064 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5647:Ctr9
|
UTSW |
7 |
110,654,751 (GRCm39) |
missense |
unknown |
|
|
R5677:Ctr9
|
UTSW |
7 |
110,643,209 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6907:Ctr9
|
UTSW |
7 |
110,629,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Ctr9
|
UTSW |
7 |
110,633,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7391:Ctr9
|
UTSW |
7 |
110,642,378 (GRCm39) |
nonsense |
probably null |
|
|
R7405:Ctr9
|
UTSW |
7 |
110,642,921 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7406:Ctr9
|
UTSW |
7 |
110,652,615 (GRCm39) |
missense |
unknown |
|
|
R7502:Ctr9
|
UTSW |
7 |
110,633,133 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7760:Ctr9
|
UTSW |
7 |
110,645,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Ctr9
|
UTSW |
7 |
110,633,134 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7870:Ctr9
|
UTSW |
7 |
110,651,618 (GRCm39) |
missense |
unknown |
|
|
R8026:Ctr9
|
UTSW |
7 |
110,633,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Ctr9
|
UTSW |
7 |
110,633,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Ctr9
|
UTSW |
7 |
110,633,104 (GRCm39) |
nonsense |
probably null |
|
|
R8080:Ctr9
|
UTSW |
7 |
110,650,774 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8789:Ctr9
|
UTSW |
7 |
110,642,933 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8840:Ctr9
|
UTSW |
7 |
110,642,237 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9015:Ctr9
|
UTSW |
7 |
110,643,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Ctr9
|
UTSW |
7 |
110,629,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAGAGTGATGTGTCTCCATG -3'
(R):5'- AGTTGTTCTCAGCAGGCTACC -3'
Sequencing Primer
(F):5'- GGGGCTTTTCTCTTCTCTCTGAAAG -3'
(R):5'- TACCGGGCTGAGTACAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation