Incidental Mutation 'R0023:Ctr9'
ID |
178049 |
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 |
038318-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0023 (G1)
|
Quality Score |
68 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
110628158-110655584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 110643154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 509
(A509T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
AlphaFold |
Q62018 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005749
AA Change: A509T
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000005749 Gene: ENSMUSG00000005609 AA Change: A509T
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: ENSMUST00000146558
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157025
|
Meta Mutation Damage Score |
0.1217 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.2%
|
Validation Efficiency |
98% (59/60) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
Abcg4 |
A |
G |
9: 44,186,672 (GRCm39) |
Y491H |
probably damaging |
Het |
Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
Ang4 |
G |
T |
14: 52,001,860 (GRCm39) |
Y29* |
probably null |
Het |
Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
Bpifa3 |
A |
C |
2: 153,980,070 (GRCm39) |
H234P |
probably damaging |
Het |
Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,640,185 (GRCm39) |
D413G |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
Crip3 |
A |
G |
17: 46,741,920 (GRCm39) |
K136E |
probably damaging |
Het |
D930020B18Rik |
T |
C |
10: 121,525,726 (GRCm39) |
S367P |
probably damaging |
Het |
Dhrs11 |
A |
T |
11: 84,713,976 (GRCm39) |
L125H |
probably damaging |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Efcab7 |
A |
T |
4: 99,758,834 (GRCm39) |
|
probably benign |
Het |
Eif2ak4 |
A |
C |
2: 118,293,202 (GRCm39) |
S1253R |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
Fads1 |
G |
A |
19: 10,164,261 (GRCm39) |
|
probably benign |
Het |
Fbxw26 |
T |
C |
9: 109,547,079 (GRCm39) |
T449A |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
Fry |
T |
C |
5: 150,374,563 (GRCm39) |
S2358P |
possibly damaging |
Het |
Gas6 |
A |
C |
8: 13,520,344 (GRCm39) |
L448R |
probably damaging |
Het |
Hikeshi |
T |
C |
7: 89,569,412 (GRCm39) |
|
probably benign |
Het |
Ifngr1 |
C |
T |
10: 19,485,197 (GRCm39) |
R399* |
probably null |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Knl1 |
C |
T |
2: 118,933,030 (GRCm39) |
T2063I |
possibly damaging |
Het |
Lyzl6 |
A |
G |
11: 103,527,697 (GRCm39) |
V9A |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
Myo9b |
A |
T |
8: 71,786,412 (GRCm39) |
R693W |
probably damaging |
Het |
Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
Nr1i3 |
T |
C |
1: 171,044,900 (GRCm39) |
F247L |
probably damaging |
Het |
Plekhs1 |
T |
G |
19: 56,466,948 (GRCm39) |
S260A |
probably damaging |
Het |
Rpl21-ps6 |
T |
C |
17: 56,222,536 (GRCm39) |
|
noncoding transcript |
Het |
Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
Sppl2a |
T |
A |
2: 126,755,213 (GRCm39) |
|
probably null |
Het |
Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
Tnn |
T |
A |
1: 159,932,498 (GRCm39) |
T1075S |
probably benign |
Het |
Traf3 |
T |
A |
12: 111,209,912 (GRCm39) |
C169* |
probably null |
Het |
Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
Ulk3 |
C |
A |
9: 57,497,639 (GRCm39) |
C4* |
probably null |
Het |
Vmn1r73 |
A |
T |
7: 11,490,997 (GRCm39) |
T272S |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,565,252 (GRCm39) |
E380K |
probably benign |
Het |
Vmn2r3 |
T |
A |
3: 64,182,787 (GRCm39) |
N304I |
probably damaging |
Het |
Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
Yars1 |
A |
G |
4: 129,090,981 (GRCm39) |
T130A |
probably benign |
Het |
Zfp652 |
A |
T |
11: 95,644,295 (GRCm39) |
R205* |
probably null |
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 |
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 |
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'- GGCCCTCCATTTTAGACTCGGAAAC -3'
(R):5'- GCAGACTCACAGCTACTGAGCAC -3'
Sequencing Primer
(F):5'- TTTAGACTCGGAAACCTGGGG -3'
(R):5'- ccttaactgctgagtcatctcc -3'
|
Posted On |
2014-05-07 |