Incidental Mutation 'IGL01603:Ctr9'
| ID |
92225 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctr9
|
| Ensembl Gene |
ENSMUSG00000005609 |
| Gene Name |
CTR9 homolog, Paf1/RNA polymerase II complex component |
| Synonyms |
Sh2bp1, Tsp, Tsbp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01603
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
110628158-110655584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110648538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 726
(A726D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
| AlphaFold |
Q62018 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005749
AA Change: A726D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005749
Gene: ENSMUSG00000005609
AA Change: A726D
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209912
|
| Coding Region Coverage |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
T |
A |
17: 32,564,327 (GRCm39) |
D20V |
probably damaging |
Het |
| Akr1c12 |
A |
G |
13: 4,322,926 (GRCm39) |
|
probably null |
Het |
| Baiap2l1 |
C |
T |
5: 144,217,625 (GRCm39) |
|
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,947,037 (GRCm39) |
F184L |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,454,154 (GRCm38) |
|
probably benign |
Het |
| Cbr4 |
A |
T |
8: 61,956,245 (GRCm39) |
*237Y |
probably null |
Het |
| Cln3 |
T |
G |
7: 126,174,526 (GRCm39) |
N275T |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,262,373 (GRCm39) |
E823G |
probably damaging |
Het |
| Def6 |
C |
T |
17: 28,438,714 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,743,030 (GRCm39) |
I395N |
probably damaging |
Het |
| Eln |
T |
C |
5: 134,747,894 (GRCm39) |
|
probably benign |
Het |
| Fasn |
A |
T |
11: 120,706,891 (GRCm39) |
H920Q |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,770,832 (GRCm39) |
I78T |
probably damaging |
Het |
| Gm7275 |
A |
T |
16: 47,893,942 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
A |
C |
7: 87,252,386 (GRCm39) |
Y212S |
probably damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,231,129 (GRCm39) |
|
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,942,175 (GRCm39) |
V528A |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,280,114 (GRCm39) |
A3168T |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,634,058 (GRCm39) |
S18P |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,575,564 (GRCm39) |
K294I |
possibly damaging |
Het |
| Lama4 |
G |
A |
10: 38,941,642 (GRCm39) |
G693E |
possibly damaging |
Het |
| Ldb1 |
A |
T |
19: 46,024,014 (GRCm39) |
I124K |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,635 (GRCm39) |
T680I |
probably benign |
Het |
| Lypd10 |
T |
A |
7: 24,411,954 (GRCm39) |
W45R |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,758,010 (GRCm39) |
D186V |
possibly damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,374 (GRCm39) |
Y148C |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,569,473 (GRCm39) |
A178T |
probably benign |
Het |
| Mylip |
A |
C |
13: 45,543,479 (GRCm39) |
E16A |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,352,379 (GRCm39) |
F828S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,928,631 (GRCm39) |
F6012L |
probably damaging |
Het |
| Or14a257 |
A |
G |
7: 86,138,139 (GRCm39) |
S207P |
possibly damaging |
Het |
| Or2o1 |
A |
C |
11: 49,051,438 (GRCm39) |
D199A |
probably damaging |
Het |
| Or5p54 |
A |
G |
7: 107,554,580 (GRCm39) |
Y244C |
possibly damaging |
Het |
| Pcid2 |
T |
A |
8: 13,129,936 (GRCm39) |
K273N |
possibly damaging |
Het |
| Plekhm3 |
C |
T |
1: 64,960,991 (GRCm39) |
D422N |
probably damaging |
Het |
| Prr12 |
T |
C |
7: 44,692,909 (GRCm39) |
H1541R |
probably damaging |
Het |
| Psg26 |
A |
C |
7: 18,209,028 (GRCm39) |
V460G |
probably damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,459 (GRCm39) |
R295* |
probably null |
Het |
| Sbf1 |
A |
T |
15: 89,187,481 (GRCm39) |
V690E |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,449,910 (GRCm39) |
S108T |
probably benign |
Het |
| Sin3b |
T |
C |
8: 73,476,692 (GRCm39) |
Y709H |
probably damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,481,989 (GRCm39) |
W160R |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,704,466 (GRCm39) |
D449V |
probably damaging |
Het |
| Tas2r108 |
C |
A |
6: 40,470,720 (GRCm39) |
N65K |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,063,575 (GRCm39) |
F1002I |
possibly damaging |
Het |
| Trpm5 |
G |
A |
7: 142,629,338 (GRCm39) |
S942L |
probably benign |
Het |
| Tspan5 |
T |
C |
3: 138,596,517 (GRCm39) |
S52P |
probably damaging |
Het |
| Uqcrfs1 |
T |
C |
13: 30,725,181 (GRCm39) |
T120A |
probably benign |
Het |
| Usp6nl |
T |
C |
2: 6,428,246 (GRCm39) |
F193L |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,030,833 (GRCm39) |
C523S |
probably damaging |
Het |
| Wfdc2 |
C |
T |
2: 164,405,979 (GRCm39) |
P92S |
probably benign |
Het |
| Zbtb18 |
A |
T |
1: 177,275,549 (GRCm39) |
H303L |
probably benign |
Het |
| Zfp174 |
A |
T |
16: 3,672,153 (GRCm39) |
H234L |
probably benign |
Het |
| Zmynd12 |
T |
C |
4: 119,299,117 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ctr9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation