Incidental Mutation 'R8789:Ctr9'
| ID |
670816 |
| 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 |
068608-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
110628158-110655584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110642933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 466
(N466S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
| AlphaFold |
Q62018 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005749
AA Change: N466S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: N466S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
T |
2: 158,478,604 (GRCm39) |
Q485* |
probably null |
Het |
| Arsa |
C |
T |
15: 89,358,260 (GRCm39) |
V350I |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cav2 |
T |
C |
6: 17,281,996 (GRCm39) |
Y85H |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,424,784 (GRCm39) |
Q570R |
probably damaging |
Het |
| Cd72 |
A |
G |
4: 43,452,628 (GRCm39) |
S122P |
probably damaging |
Het |
| Cep72 |
A |
G |
13: 74,186,367 (GRCm39) |
M619T |
possibly damaging |
Het |
| Cers5 |
C |
A |
15: 99,637,551 (GRCm39) |
V233F |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,673,292 (GRCm39) |
Y803H |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,554 (GRCm39) |
S596P |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,375,359 (GRCm39) |
E251G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,266,722 (GRCm39) |
N68I |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,007,106 (GRCm39) |
I71N |
probably damaging |
Het |
| Cyp2j11 |
C |
T |
4: 96,227,405 (GRCm39) |
E204K |
probably damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,848 (GRCm39) |
F469S |
probably damaging |
Het |
| Dmac2 |
T |
A |
7: 25,320,495 (GRCm39) |
S65T |
probably benign |
Het |
| Duxf1 |
T |
C |
10: 58,059,426 (GRCm39) |
N443D |
unknown |
Het |
| Elp3 |
G |
A |
14: 65,802,870 (GRCm39) |
P243S |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,143 (GRCm39) |
M292K |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,822 (GRCm39) |
S3852P |
possibly damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm10912 |
A |
C |
2: 103,897,046 (GRCm39) |
K62Q |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Hapstr1 |
T |
C |
16: 8,660,865 (GRCm39) |
I114T |
probably benign |
Het |
| Hoxc12 |
T |
C |
15: 102,846,732 (GRCm39) |
I208T |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,836,602 (GRCm39) |
P30L |
unknown |
Het |
| Itgal |
A |
G |
7: 126,904,421 (GRCm39) |
H298R |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
| Or13c7d |
A |
T |
4: 43,770,793 (GRCm39) |
C73S |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,135 (GRCm39) |
F177S |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,836,581 (GRCm39) |
D284E |
unknown |
Het |
| Pmp2 |
T |
A |
3: 10,247,564 (GRCm39) |
I42F |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,216,494 (GRCm39) |
D115G |
probably damaging |
Het |
| Pym1 |
T |
C |
10: 128,601,073 (GRCm39) |
V32A |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,588,546 (GRCm39) |
H1105R |
probably benign |
Het |
| Rimkla |
T |
C |
4: 119,349,607 (GRCm39) |
Y17C |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,391,924 (GRCm39) |
R623K |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,999,328 (GRCm39) |
N1207K |
probably damaging |
Het |
| Scg2 |
G |
T |
1: 79,413,500 (GRCm39) |
Q368K |
probably benign |
Het |
| Serpinb6e |
G |
A |
13: 34,017,213 (GRCm39) |
T269I |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,367,438 (GRCm39) |
K663* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,137,494 (GRCm39) |
N1026K |
possibly damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,321,609 (GRCm39) |
D379G |
unknown |
Het |
| Vps13d |
T |
C |
4: 144,795,743 (GRCm39) |
M3700V |
|
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,288 (GRCm39) |
L136P |
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 |
|
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 |
|
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'- GCCCAGATCTTAGAACAGACTG -3'
(R):5'- AGTGTTCATCATGCTCGGCC -3'
Sequencing Primer
(F):5'- CTGACATACAGGTATTAATGTCTGC -3'
(R):5'- ATCATGCTCGGCCTCTGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation