Incidental Mutation 'R2850:Ctr9'
| ID |
252079 |
| 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 |
040443-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2850 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
110628158-110655584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110652653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 984
(R984C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
| AlphaFold |
Q62018 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000005749
AA Change: R984C
|
| SMART Domains |
Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: R984C
| 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: ENSMUST00000123681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209912
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
A |
13: 12,290,065 (GRCm39) |
T734S |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,336,868 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
C |
T |
10: 20,876,492 (GRCm39) |
T801I |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,598,281 (GRCm39) |
S1505P |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Anxa6 |
T |
A |
11: 54,901,852 (GRCm39) |
Y95F |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,651,800 (GRCm39) |
M126I |
probably damaging |
Het |
| Clk1 |
A |
G |
1: 58,451,438 (GRCm39) |
L457S |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,690 (GRCm39) |
I400T |
possibly damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,717,343 (GRCm39) |
|
probably benign |
Het |
| Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,327,764 (GRCm39) |
T2687I |
probably damaging |
Het |
| Cypt3 |
T |
A |
X: 152,342,274 (GRCm39) |
N168K |
probably damaging |
Het |
| E330020D12Rik |
A |
G |
1: 153,282,336 (GRCm39) |
|
noncoding transcript |
Het |
| Fbxl4 |
T |
C |
4: 22,403,624 (GRCm39) |
M399T |
probably benign |
Het |
| Fbxo22 |
T |
C |
9: 55,130,699 (GRCm39) |
F323L |
probably damaging |
Het |
| Fnip1 |
A |
T |
11: 54,393,503 (GRCm39) |
E646D |
probably benign |
Het |
| Gid4 |
G |
A |
11: 60,329,400 (GRCm39) |
|
probably null |
Het |
| Gnb5 |
A |
T |
9: 75,234,511 (GRCm39) |
D70V |
probably damaging |
Het |
| Gpank1 |
A |
G |
17: 35,343,557 (GRCm39) |
S346G |
probably benign |
Het |
| Gtf3c6 |
T |
C |
10: 40,130,254 (GRCm39) |
|
probably benign |
Het |
| Hdx |
T |
C |
X: 110,502,720 (GRCm39) |
I562V |
probably benign |
Het |
| Ifrd2 |
T |
C |
9: 107,468,908 (GRCm39) |
|
probably benign |
Het |
| Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
| Kif11 |
C |
A |
19: 37,397,941 (GRCm39) |
D630E |
probably benign |
Het |
| Lpl |
G |
T |
8: 69,352,164 (GRCm39) |
E372* |
probably null |
Het |
| Mrps26 |
T |
C |
2: 130,406,967 (GRCm39) |
V198A |
probably benign |
Het |
| Mucl1 |
T |
C |
15: 103,782,348 (GRCm39) |
N201S |
possibly damaging |
Het |
| Nedd4 |
C |
T |
9: 72,632,356 (GRCm39) |
L397F |
possibly damaging |
Het |
| Nfat5 |
A |
G |
8: 108,020,492 (GRCm39) |
D12G |
probably damaging |
Het |
| Or5b102 |
T |
C |
19: 13,040,934 (GRCm39) |
L53P |
probably damaging |
Het |
| Pik3r3 |
A |
G |
4: 116,127,981 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,622 (GRCm39) |
V489E |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
| Plb1 |
T |
A |
5: 32,450,568 (GRCm39) |
S370T |
probably benign |
Het |
| Ppat |
G |
A |
5: 77,067,222 (GRCm39) |
T337I |
probably benign |
Het |
| Prkd3 |
A |
G |
17: 79,262,025 (GRCm39) |
V763A |
possibly damaging |
Het |
| Prr9 |
A |
T |
3: 92,030,476 (GRCm39) |
S55T |
probably benign |
Het |
| Rbpms |
G |
T |
8: 34,324,405 (GRCm39) |
N108K |
possibly damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,267,427 (GRCm39) |
D972E |
probably benign |
Het |
| Rrbp1 |
C |
T |
2: 143,791,269 (GRCm39) |
R1378Q |
probably benign |
Het |
| Slc26a7 |
T |
A |
4: 14,593,806 (GRCm39) |
|
probably benign |
Het |
| Stard6 |
T |
A |
18: 70,616,522 (GRCm39) |
H60Q |
probably benign |
Het |
| Sult6b2 |
T |
C |
6: 142,743,613 (GRCm39) |
T138A |
probably benign |
Het |
| Th |
G |
A |
7: 142,447,812 (GRCm39) |
Q329* |
probably null |
Het |
| Tmco3 |
A |
G |
8: 13,345,024 (GRCm39) |
H268R |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,966,857 (GRCm39) |
D429G |
probably benign |
Het |
| Tnrc6a |
G |
A |
7: 122,779,023 (GRCm39) |
G1245R |
probably damaging |
Het |
| Trem3 |
C |
A |
17: 48,556,669 (GRCm39) |
L47M |
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,769,454 (GRCm39) |
C307S |
possibly damaging |
Het |
| Ube2j1 |
T |
A |
4: 33,049,696 (GRCm39) |
N231K |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,571,144 (GRCm39) |
Y1222H |
probably benign |
Het |
| Wdr81 |
A |
T |
11: 75,341,998 (GRCm39) |
S1090T |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,257,982 (GRCm39) |
|
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,219,371 (GRCm39) |
T183A |
probably benign |
Het |
| Zfp354c |
G |
A |
11: 50,706,158 (GRCm39) |
Q306* |
probably null |
Het |
| Zp2 |
T |
C |
7: 119,737,529 (GRCm39) |
H252R |
probably benign |
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 |
|
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 |
|
R5216:Ctr9
|
UTSW |
7 |
110,644,665 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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'- CCCTTGAGTGCATAGTATAGCTG -3'
(R):5'- ACTGTGGCACTCTGTCAGAC -3'
Sequencing Primer
(F):5'- CTGAGTATCAGTGTCCATACAGAATG -3'
(R):5'- TGTCAGACAGAGACAGACAGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation