Incidental Mutation 'R4460:Ctr9'
| ID |
330107 |
| 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 |
041719-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
110628158-110655584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110646101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 698
(I698V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
| AlphaFold |
Q62018 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005749
AA Change: I698V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: I698V
| 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: ENSMUST00000146558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157025
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btbd8 |
A |
G |
5: 107,651,631 (GRCm39) |
T687A |
possibly damaging |
Het |
| C030048H21Rik |
A |
G |
2: 26,145,875 (GRCm39) |
|
probably null |
Het |
| Cav1 |
A |
G |
6: 17,306,471 (GRCm39) |
D8G |
probably damaging |
Het |
| Celf6 |
G |
A |
9: 59,510,327 (GRCm39) |
R103H |
probably damaging |
Het |
| Cts6 |
G |
C |
13: 61,343,272 (GRCm39) |
I316M |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,058,262 (GRCm39) |
R1496L |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,411,519 (GRCm39) |
Y1786H |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,852,281 (GRCm39) |
T1268I |
probably benign |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,586,094 (GRCm39) |
|
probably null |
Het |
| Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
| Mmp9 |
G |
T |
2: 164,790,958 (GRCm39) |
K115N |
probably damaging |
Het |
| Mroh5 |
A |
T |
15: 73,663,645 (GRCm39) |
D339E |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
| Mx1 |
G |
T |
16: 97,255,281 (GRCm39) |
S113R |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,077,523 (GRCm39) |
H698L |
probably damaging |
Het |
| Nol9 |
T |
G |
4: 152,142,293 (GRCm39) |
L641R |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prkn |
A |
T |
17: 12,280,533 (GRCm39) |
D463V |
probably damaging |
Het |
| Ptcd1 |
G |
T |
5: 145,096,316 (GRCm39) |
A259E |
probably benign |
Het |
| Ptov1 |
T |
C |
7: 44,515,000 (GRCm39) |
M204V |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,922,764 (GRCm39) |
S210P |
probably benign |
Het |
| Rgmb |
C |
A |
17: 16,027,888 (GRCm39) |
R277L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,309,516 (GRCm39) |
E22G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tmem143 |
C |
T |
7: 45,556,376 (GRCm39) |
T97I |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,644,991 (GRCm39) |
F12955V |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,255,971 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,852 (GRCm39) |
M211K |
probably damaging |
Het |
| Vmn2r121 |
G |
A |
X: 123,038,281 (GRCm39) |
P580S |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
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 |
|
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'- GTTAGAGCAACAGTCAGGCCTC -3'
(R):5'- AAGTCAGTCAGAGGATCTGCC -3'
Sequencing Primer
(F):5'- AACAGTCAGGCCTCTTACTGTCAG -3'
(R):5'- CCGTGGAATTGCGGCTCATAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation