Incidental Mutation 'R8035:Ctr9'
| ID |
618188 |
| 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 |
067472-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8035 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
110628158-110655584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110633664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 165
(A165V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
| AlphaFold |
Q62018 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005749
AA Change: A165V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: A165V
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| A2ml1 |
A |
G |
6: 128,530,243 (GRCm39) |
V938A |
probably damaging |
Het |
| Acot7 |
A |
G |
4: 152,337,611 (GRCm39) |
T254A |
possibly damaging |
Het |
| Ankle2 |
C |
T |
5: 110,402,318 (GRCm39) |
R943C |
probably damaging |
Het |
| Arrdc2 |
T |
C |
8: 71,292,026 (GRCm39) |
K7R |
probably benign |
Het |
| Arsi |
T |
A |
18: 61,049,442 (GRCm39) |
H108Q |
probably damaging |
Het |
| Asap3 |
T |
C |
4: 135,968,514 (GRCm39) |
Y689H |
probably benign |
Het |
| Bnip3 |
G |
A |
7: 138,493,666 (GRCm39) |
T181I |
probably damaging |
Het |
| C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
| Ccdc168 |
A |
G |
1: 44,100,711 (GRCm39) |
V129A |
possibly damaging |
Het |
| Ccdc6 |
A |
G |
10: 69,933,331 (GRCm39) |
I68V |
probably benign |
Het |
| Ccr3 |
T |
C |
9: 123,829,012 (GRCm39) |
F116L |
probably benign |
Het |
| Cdh9 |
G |
T |
15: 16,831,152 (GRCm39) |
V330F |
probably damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,318,350 (GRCm39) |
C155R |
possibly damaging |
Het |
| Cyp2b19 |
G |
A |
7: 26,470,675 (GRCm39) |
G439R |
probably damaging |
Het |
| Fam161b |
A |
T |
12: 84,395,430 (GRCm39) |
D504E |
probably damaging |
Het |
| Fdps |
G |
T |
3: 89,002,783 (GRCm39) |
P122T |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,547,437 (GRCm39) |
Y1454H |
probably damaging |
Het |
| Gipc2 |
T |
C |
3: 151,799,866 (GRCm39) |
E288G |
probably damaging |
Het |
| Gm21411 |
A |
C |
4: 146,982,167 (GRCm39) |
|
probably null |
Het |
| Hnrnpc |
C |
T |
14: 52,321,719 (GRCm39) |
D32N |
possibly damaging |
Het |
| Hspa12b |
T |
A |
2: 130,982,859 (GRCm39) |
I239N |
probably damaging |
Het |
| Hspb8 |
T |
C |
5: 116,553,485 (GRCm39) |
N138D |
probably damaging |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,921 (GRCm39) |
I69V |
possibly damaging |
Het |
| Itih1 |
A |
C |
14: 30,664,482 (GRCm39) |
D81E |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,941,781 (GRCm39) |
L624S |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,086 (GRCm39) |
M153V |
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,854,302 (GRCm39) |
Y327* |
probably null |
Het |
| Lims1 |
T |
A |
10: 58,246,263 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,750,667 (GRCm39) |
I3080F |
|
Het |
| Mars2 |
C |
T |
1: 55,277,456 (GRCm39) |
T353I |
possibly damaging |
Het |
| Matn4 |
T |
C |
2: 164,238,960 (GRCm39) |
N307S |
probably damaging |
Het |
| Mettl17 |
C |
T |
14: 52,128,947 (GRCm39) |
H406Y |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,856 (GRCm39) |
M2271K |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,035,336 (GRCm39) |
E539G |
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,757 (GRCm39) |
L31H |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,263 (GRCm39) |
F310L |
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,490 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b38 |
C |
T |
9: 37,972,961 (GRCm39) |
T115I |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,806,109 (GRCm39) |
K1030R |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,721,311 (GRCm39) |
D119E |
probably damaging |
Het |
| Rgs9 |
A |
G |
11: 109,164,150 (GRCm39) |
I151T |
probably benign |
Het |
| Slc26a7 |
A |
C |
4: 14,621,338 (GRCm39) |
M16R |
possibly damaging |
Het |
| Slx4ip |
T |
G |
2: 136,885,945 (GRCm39) |
Y88* |
probably null |
Het |
| Sppl2c |
T |
A |
11: 104,078,192 (GRCm39) |
W331R |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,784 (GRCm39) |
S1855P |
probably benign |
Het |
| Svs5 |
A |
G |
2: 164,079,053 (GRCm39) |
F285L |
probably benign |
Het |
| Tjp1 |
G |
T |
7: 64,992,450 (GRCm39) |
A76E |
probably benign |
Het |
| Trip13 |
G |
C |
13: 74,061,373 (GRCm39) |
A430G |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,770,226 (GRCm39) |
E337G |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,937,004 (GRCm39) |
N1214K |
probably benign |
Het |
| Vmn1r37 |
T |
A |
6: 66,708,377 (GRCm39) |
M1K |
probably null |
Het |
| Wdr72 |
T |
G |
9: 74,086,783 (GRCm39) |
|
probably benign |
Het |
| Zfp583 |
T |
C |
7: 6,319,771 (GRCm39) |
K414E |
probably damaging |
Het |
| Zfp940 |
A |
C |
7: 29,544,948 (GRCm39) |
S320A |
probably benign |
Het |
| Zfp979 |
A |
C |
4: 147,697,763 (GRCm39) |
C315W |
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 |
|
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'- TGAGCTCCCACCCACTGTG -3'
(R):5'- CTTGTTGACTCTTTGGAAGCAAAC -3'
Sequencing Primer
(F):5'- CACCCACTGTGGATGGTAAATTGTC -3'
(R):5'- ACTGTTCCAGTGAGTCAGACC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation