Incidental Mutation 'IGL02379:Ctr9'
ID |
291278 |
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 # |
IGL02379
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
110628158-110655584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110650726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 884
(K884E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005749]
|
AlphaFold |
Q62018 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005749
AA Change: K884E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000005749 Gene: ENSMUSG00000005609 AA Change: K884E
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
A |
5: 121,760,106 (GRCm39) |
I996F |
probably damaging |
Het |
Adamts9 |
T |
A |
6: 92,774,014 (GRCm39) |
D1133V |
probably damaging |
Het |
Adi1 |
T |
A |
12: 28,729,466 (GRCm39) |
D106E |
probably damaging |
Het |
Agl |
A |
G |
3: 116,572,740 (GRCm39) |
F837S |
probably damaging |
Het |
Alb |
T |
A |
5: 90,613,738 (GRCm39) |
D207E |
probably benign |
Het |
Alms1 |
T |
G |
6: 85,606,615 (GRCm39) |
V2286G |
probably damaging |
Het |
Alpl |
G |
A |
4: 137,469,869 (GRCm39) |
A485V |
probably damaging |
Het |
Antxrl |
C |
A |
14: 33,778,492 (GRCm39) |
|
probably null |
Het |
Apc |
C |
T |
18: 34,431,798 (GRCm39) |
T417I |
probably benign |
Het |
Ash2l |
T |
C |
8: 26,312,799 (GRCm39) |
D390G |
probably damaging |
Het |
Asph |
G |
A |
4: 9,474,980 (GRCm39) |
P582S |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,992,980 (GRCm39) |
L825Q |
probably benign |
Het |
Bhlha15 |
T |
A |
5: 144,128,159 (GRCm39) |
N90K |
probably damaging |
Het |
Cgnl1 |
T |
A |
9: 71,552,835 (GRCm39) |
Y1043F |
possibly damaging |
Het |
Chek1 |
T |
C |
9: 36,635,242 (GRCm39) |
D47G |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,627,619 (GRCm39) |
M451L |
probably benign |
Het |
Csnk1g3 |
T |
C |
18: 54,066,564 (GRCm39) |
S346P |
probably benign |
Het |
Cspg4 |
G |
T |
9: 56,799,893 (GRCm39) |
|
probably benign |
Het |
Cyld |
T |
A |
8: 89,471,556 (GRCm39) |
C813* |
probably null |
Het |
Fn3k |
A |
T |
11: 121,325,950 (GRCm39) |
T46S |
probably benign |
Het |
Foxred1 |
T |
C |
9: 35,121,282 (GRCm39) |
R89G |
probably benign |
Het |
Gpr174 |
T |
C |
X: 106,337,084 (GRCm39) |
F299L |
probably damaging |
Het |
Hdac7 |
T |
C |
15: 97,706,266 (GRCm39) |
D312G |
probably damaging |
Het |
Il36b |
A |
G |
2: 24,044,650 (GRCm39) |
S17G |
probably benign |
Het |
Kcna5 |
G |
T |
6: 126,511,472 (GRCm39) |
P219T |
probably damaging |
Het |
Kcnh2 |
A |
C |
5: 24,531,636 (GRCm39) |
V425G |
probably damaging |
Het |
Klk1b5 |
A |
G |
7: 43,500,246 (GRCm39) |
N278S |
probably damaging |
Het |
Mars2 |
T |
A |
1: 55,277,212 (GRCm39) |
W272R |
probably damaging |
Het |
Msl3l2 |
C |
A |
10: 55,992,017 (GRCm39) |
S247R |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,216,925 (GRCm39) |
E1144G |
probably damaging |
Het |
Nefm |
T |
C |
14: 68,357,688 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,962,644 (GRCm39) |
K743E |
probably damaging |
Het |
Nyap2 |
C |
T |
1: 81,065,147 (GRCm39) |
T53I |
probably damaging |
Het |
Odad4 |
A |
T |
11: 100,457,809 (GRCm39) |
N471Y |
possibly damaging |
Het |
Or10ag58 |
T |
C |
2: 87,265,668 (GRCm39) |
V279A |
probably benign |
Het |
Or52z12 |
T |
C |
7: 103,234,099 (GRCm39) |
V290A |
possibly damaging |
Het |
Peli2 |
A |
G |
14: 48,405,755 (GRCm39) |
H60R |
probably damaging |
Het |
Pias2 |
T |
A |
18: 77,232,844 (GRCm39) |
|
probably benign |
Het |
Pik3c2b |
A |
G |
1: 133,022,529 (GRCm39) |
D1157G |
probably damaging |
Het |
Pip4k2a |
C |
T |
2: 18,870,922 (GRCm39) |
|
probably null |
Het |
Raf1 |
A |
T |
6: 115,621,509 (GRCm39) |
D23E |
probably benign |
Het |
Rhox10 |
G |
A |
X: 37,155,733 (GRCm39) |
R87H |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,376,345 (GRCm39) |
T449A |
possibly damaging |
Het |
Serpina3a |
T |
A |
12: 104,084,919 (GRCm39) |
S105T |
probably benign |
Het |
Slc12a9 |
T |
G |
5: 137,319,691 (GRCm39) |
Q608P |
probably damaging |
Het |
Smg6 |
C |
A |
11: 74,944,751 (GRCm39) |
P167T |
probably damaging |
Het |
Spata7 |
C |
T |
12: 98,600,519 (GRCm39) |
T44I |
probably damaging |
Het |
Spink12 |
C |
T |
18: 44,239,575 (GRCm39) |
|
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stag2 |
C |
T |
X: 41,339,474 (GRCm39) |
T754I |
probably benign |
Het |
Supt6 |
C |
T |
11: 78,116,195 (GRCm39) |
V723M |
possibly damaging |
Het |
Ubr3 |
A |
G |
2: 69,778,832 (GRCm39) |
D614G |
possibly damaging |
Het |
Vps39 |
T |
A |
2: 120,154,089 (GRCm39) |
K624N |
probably benign |
Het |
Vwa5b1 |
A |
T |
4: 138,340,170 (GRCm39) |
L29Q |
probably damaging |
Het |
Wtap |
G |
A |
17: 13,188,336 (GRCm39) |
A188V |
probably benign |
Het |
Zc3hc1 |
A |
G |
6: 30,390,974 (GRCm39) |
F5L |
probably benign |
Het |
Zfp655 |
C |
T |
5: 145,180,765 (GRCm39) |
P208S |
probably benign |
Het |
Zswim3 |
A |
T |
2: 164,662,602 (GRCm39) |
|
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 |
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 |
2015-04-16 |