Incidental Mutation 'R2171:Ctr9'
| ID |
237487 |
| 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 |
040173-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2171 (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 110646117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 703
(M703K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
| AlphaFold |
Q62018 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005749
AA Change: M703K
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: M703K
| 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: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
A |
G |
13: 23,606,387 (GRCm39) |
L189P |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,660,362 (GRCm39) |
S377* |
probably null |
Het |
| Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
| Arv1 |
T |
G |
8: 125,455,094 (GRCm39) |
C102W |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,896,419 (GRCm39) |
H207R |
probably benign |
Het |
| Bach2 |
T |
C |
4: 32,501,662 (GRCm39) |
V13A |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,320,843 (GRCm39) |
S206P |
probably benign |
Het |
| Cdhr4 |
T |
C |
9: 107,870,117 (GRCm39) |
S41P |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,752,424 (GRCm39) |
Y307C |
probably damaging |
Het |
| Clec4f |
A |
T |
6: 83,629,846 (GRCm39) |
S237R |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,116,132 (GRCm39) |
D538G |
possibly damaging |
Het |
| Col9a2 |
T |
A |
4: 120,902,198 (GRCm39) |
C173* |
probably null |
Het |
| Cyp2a12 |
A |
G |
7: 26,729,057 (GRCm39) |
Y83C |
probably damaging |
Het |
| Eef1akmt3 |
A |
C |
10: 126,868,843 (GRCm39) |
D210E |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,971,466 (GRCm39) |
F717L |
probably benign |
Het |
| Gtf3a |
A |
G |
5: 146,892,272 (GRCm39) |
N341S |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,113,245 (GRCm39) |
V6A |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,650,358 (GRCm39) |
Y135N |
probably damaging |
Het |
| Krt73 |
T |
C |
15: 101,709,345 (GRCm39) |
Q154R |
possibly damaging |
Het |
| Lce1a1 |
C |
T |
3: 92,554,048 (GRCm39) |
C142Y |
unknown |
Het |
| Lcorl |
A |
T |
5: 45,904,493 (GRCm39) |
I112N |
probably damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,598,312 (GRCm39) |
H916Y |
probably damaging |
Het |
| Lypla2 |
T |
C |
4: 135,697,915 (GRCm39) |
|
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mmp1a |
T |
A |
9: 7,475,357 (GRCm39) |
D375E |
probably damaging |
Het |
| Nlrp14 |
T |
G |
7: 106,781,709 (GRCm39) |
L302R |
probably damaging |
Het |
| Npy2r |
T |
G |
3: 82,447,708 (GRCm39) |
T243P |
possibly damaging |
Het |
| Or11h4 |
A |
T |
14: 50,973,876 (GRCm39) |
S248T |
probably benign |
Het |
| Or51k2 |
T |
C |
7: 103,595,992 (GRCm39) |
V73A |
probably damaging |
Het |
| Paqr9 |
A |
T |
9: 95,442,931 (GRCm39) |
H307L |
probably damaging |
Het |
| Phc3 |
T |
C |
3: 31,005,078 (GRCm39) |
T172A |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,219,638 (GRCm39) |
T39A |
probably damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,801,012 (GRCm39) |
Q386* |
probably null |
Het |
| Pira2 |
T |
C |
7: 3,847,417 (GRCm39) |
S91G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,482,925 (GRCm39) |
N1539K |
probably damaging |
Het |
| Poc5 |
C |
T |
13: 96,547,257 (GRCm39) |
H507Y |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,707,925 (GRCm39) |
|
probably benign |
Het |
| Pthlh |
T |
G |
6: 147,158,694 (GRCm39) |
K89Q |
probably damaging |
Het |
| Rims4 |
A |
T |
2: 163,706,046 (GRCm39) |
|
probably null |
Het |
| Rnf138 |
A |
G |
18: 21,159,143 (GRCm39) |
N188D |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,114,822 (GRCm39) |
D727G |
probably benign |
Het |
| Sc5d |
T |
G |
9: 42,166,682 (GRCm39) |
K286Q |
probably benign |
Het |
| Slc10a5 |
C |
T |
3: 10,400,342 (GRCm39) |
G106D |
possibly damaging |
Het |
| Smg6 |
A |
T |
11: 74,929,472 (GRCm39) |
Q967L |
probably damaging |
Het |
| Spty2d1 |
C |
T |
7: 46,644,361 (GRCm39) |
R636H |
probably damaging |
Het |
| Srms |
A |
T |
2: 180,850,573 (GRCm39) |
Y195* |
probably null |
Het |
| Susd4 |
A |
G |
1: 182,719,759 (GRCm39) |
D458G |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,270,220 (GRCm39) |
R1363G |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,953,060 (GRCm39) |
G890D |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,996,606 (GRCm39) |
V317A |
probably benign |
Het |
| Ttpa |
T |
C |
4: 20,021,357 (GRCm39) |
V175A |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,887,343 (GRCm39) |
D3251Y |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,248,810 (GRCm39) |
D441G |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,819,096 (GRCm39) |
Y298* |
probably null |
Het |
| Zfp804a |
G |
A |
2: 82,087,527 (GRCm39) |
C452Y |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,461 (GRCm39) |
K698E |
possibly 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 |
|
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'- CAGTGCAGCATTTAGTATTGGAC -3'
(R):5'- CATGGATCCGTGGAATTGCG -3'
Sequencing Primer
(F):5'- TGTTAGAGCAACAGTCAGGCCTC -3'
(R):5'- GAATTGCGGCTCATAGCTACCTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation