Incidental Mutation 'R0761:Ctr9'
ID |
70090 |
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 |
038941-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0761 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
110628158-110655584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110645479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 569
(S569P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
AlphaFold |
Q62018 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005749
AA Change: S569P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000005749 Gene: ENSMUSG00000005609 AA Change: S569P
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
|
Meta Mutation Damage Score |
0.5928 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
100% (51/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,833 (GRCm39) |
Y133C |
probably benign |
Het |
Adcy5 |
G |
A |
16: 35,091,195 (GRCm39) |
|
probably benign |
Het |
Asb17 |
A |
G |
3: 153,550,052 (GRCm39) |
K28R |
probably damaging |
Het |
Bbs10 |
G |
T |
10: 111,135,244 (GRCm39) |
C119F |
probably damaging |
Het |
Camk2g |
G |
A |
14: 20,816,280 (GRCm39) |
Q119* |
probably null |
Het |
Cdh18 |
A |
T |
15: 23,226,838 (GRCm39) |
I46L |
possibly damaging |
Het |
Cimip2a |
T |
C |
2: 25,110,135 (GRCm39) |
|
probably benign |
Het |
Clmn |
T |
A |
12: 104,747,817 (GRCm39) |
N577Y |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crocc |
T |
C |
4: 140,774,387 (GRCm39) |
E63G |
probably benign |
Het |
Crocc |
T |
C |
4: 140,757,087 (GRCm39) |
T965A |
probably benign |
Het |
Cryzl2 |
A |
G |
1: 157,293,294 (GRCm39) |
I132V |
probably benign |
Het |
Csgalnact2 |
T |
C |
6: 118,103,073 (GRCm39) |
|
probably benign |
Het |
Cul3 |
A |
G |
1: 80,255,203 (GRCm39) |
|
probably benign |
Het |
Dcp2 |
G |
A |
18: 44,543,300 (GRCm39) |
S286N |
probably benign |
Het |
Dgkz |
C |
T |
2: 91,775,696 (GRCm39) |
R189H |
probably benign |
Het |
Dst |
A |
G |
1: 34,221,848 (GRCm39) |
T2551A |
probably benign |
Het |
Kcna4 |
T |
A |
2: 107,126,417 (GRCm39) |
S384T |
probably benign |
Het |
Klhl17 |
T |
C |
4: 156,317,204 (GRCm39) |
|
probably null |
Het |
Kmt2e |
C |
A |
5: 23,708,032 (GRCm39) |
S1865* |
probably null |
Het |
L3mbtl1 |
G |
A |
2: 162,807,967 (GRCm39) |
R534H |
probably damaging |
Het |
Lmnb2 |
A |
T |
10: 80,742,088 (GRCm39) |
M1K |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,075,947 (GRCm39) |
D1784G |
probably damaging |
Het |
Lrrc34 |
A |
G |
3: 30,685,425 (GRCm39) |
|
probably null |
Het |
Megf10 |
C |
A |
18: 57,421,048 (GRCm39) |
Y895* |
probably null |
Het |
Mesd |
G |
T |
7: 83,544,951 (GRCm39) |
A143S |
probably damaging |
Het |
Mfap3l |
G |
T |
8: 61,124,615 (GRCm39) |
V286L |
possibly damaging |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Nek1 |
T |
A |
8: 61,542,489 (GRCm39) |
D717E |
probably benign |
Het |
Nudt12 |
A |
T |
17: 59,318,064 (GRCm39) |
D60E |
probably benign |
Het |
Nup205 |
C |
T |
6: 35,173,363 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or2j3 |
A |
T |
17: 38,616,282 (GRCm39) |
H23Q |
probably benign |
Het |
Or4a75 |
T |
C |
2: 89,448,179 (GRCm39) |
D119G |
probably damaging |
Het |
Or5w19 |
C |
T |
2: 87,698,880 (GRCm39) |
P182S |
possibly damaging |
Het |
Pacs2 |
T |
A |
12: 113,023,688 (GRCm39) |
|
probably benign |
Het |
Pcdha9 |
T |
A |
18: 37,133,016 (GRCm39) |
L695* |
probably null |
Het |
Pira12 |
A |
T |
7: 3,896,978 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
G |
11: 8,804,375 (GRCm39) |
S1739P |
probably damaging |
Het |
Polr1e |
C |
A |
4: 45,027,392 (GRCm39) |
D207E |
probably damaging |
Het |
Polr3f |
T |
A |
2: 144,376,327 (GRCm39) |
V142E |
probably damaging |
Het |
Psma6 |
T |
A |
12: 55,459,127 (GRCm39) |
W170R |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,750,191 (GRCm39) |
Y3114H |
probably benign |
Het |
Rps6ka5 |
C |
T |
12: 100,537,141 (GRCm39) |
A530T |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,674,387 (GRCm39) |
Y912H |
probably damaging |
Het |
Tnfrsf1b |
T |
C |
4: 144,942,670 (GRCm39) |
D371G |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,195,681 (GRCm39) |
V1235A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,577,102 (GRCm39) |
E24597G |
probably damaging |
Het |
Ubr2 |
G |
A |
17: 47,294,242 (GRCm39) |
P297L |
probably damaging |
Het |
Unc5d |
A |
T |
8: 29,186,560 (GRCm39) |
|
probably null |
Het |
Xpo4 |
A |
G |
14: 57,850,840 (GRCm39) |
F355L |
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 |
|
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 |
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'- GGCACCACATTGATCTTGCAGTTTG -3'
(R):5'- TCACCTATGCCATTGGCAGCATAC -3'
Sequencing Primer
(F):5'- GCAGTTTGCTAACAGGTCTC -3'
(R):5'- CATTGGCAGCATACAGGTTC -3'
|
Posted On |
2013-09-30 |