Incidental Mutation 'R4350:Ctr9'
| ID |
328471 |
| 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 |
041105-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4350 (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 110648525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 722
(Y722N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
| AlphaFold |
Q62018 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005749
AA Change: Y722N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: Y722N
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209912
|
| Meta Mutation Damage Score |
0.8834 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,498,020 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,555,119 (GRCm39) |
D402G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,827,640 (GRCm39) |
E954G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,169 (GRCm39) |
M115V |
probably benign |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,950,393 (GRCm39) |
V732A |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,036 (GRCm39) |
I457V |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,848,220 (GRCm39) |
F165L |
probably damaging |
Het |
| Gcn1 |
G |
T |
5: 115,741,389 (GRCm39) |
R1476L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,012 (GRCm39) |
S256G |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rchy1 |
T |
C |
5: 92,105,813 (GRCm39) |
D45G |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,440 (GRCm39) |
T372A |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,006,293 (GRCm39) |
P896S |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rpl7a-ps3 |
T |
C |
15: 36,308,283 (GRCm39) |
|
noncoding transcript |
Het |
| Sox7 |
A |
G |
14: 64,185,995 (GRCm39) |
T344A |
probably benign |
Het |
| Sppl2b |
T |
C |
10: 80,698,560 (GRCm39) |
Y127H |
probably benign |
Het |
| Srsf12 |
T |
C |
4: 33,223,612 (GRCm39) |
V37A |
possibly damaging |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,118,154 (GRCm39) |
C1705S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,691,117 (GRCm39) |
T474A |
probably benign |
Het |
| Tubgcp6 |
G |
A |
15: 88,988,198 (GRCm39) |
P925L |
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 |
|
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 |
|
|
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'- AGCATGAGAATACCTCCCTGC -3'
(R):5'- GGTAGCTTCTTATGACTGAATGCC -3'
Sequencing Primer
(F):5'- TCCTGGAACTTGACCTGTAGAGC -3'
(R):5'- TCTTATGACTGAATGCCACCAAAAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation