Incidental Mutation 'IGL02992:Ints9'
ID |
406968 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ints9
|
Ensembl Gene |
ENSMUSG00000021975 |
Gene Name |
integrator complex subunit 9 |
Synonyms |
D14Ertd231e |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02992
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
65187494-65277284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65217613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 47
(K47E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043914]
|
AlphaFold |
Q8K114 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043914
AA Change: K47E
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000045552 Gene: ENSMUSG00000021975 AA Change: K47E
Domain | Start | End | E-Value | Type |
Pfam:Lactamase_B_6
|
91 |
289 |
1.2e-17 |
PFAM |
Beta-Casp
|
334 |
462 |
7.65e-16 |
SMART |
low complexity region
|
583 |
596 |
N/A |
INTRINSIC |
low complexity region
|
672 |
682 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225790
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,921,935 (GRCm39) |
K1164E |
probably damaging |
Het |
Arhgap42 |
G |
A |
9: 8,998,249 (GRCm39) |
|
probably benign |
Het |
Arhgef12 |
T |
C |
9: 42,910,373 (GRCm39) |
D612G |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,532,486 (GRCm39) |
D309G |
probably benign |
Het |
Daw1 |
T |
C |
1: 83,174,934 (GRCm39) |
|
probably benign |
Het |
Daxx |
T |
A |
17: 34,130,722 (GRCm39) |
C246S |
probably damaging |
Het |
Dpp7 |
T |
C |
2: 25,244,589 (GRCm39) |
D264G |
possibly damaging |
Het |
Dync2h1 |
T |
A |
9: 7,137,074 (GRCm39) |
H1472L |
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,777,083 (GRCm39) |
|
probably benign |
Het |
Fcrl2 |
T |
G |
3: 87,166,773 (GRCm39) |
R73S |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,526,223 (GRCm39) |
D367G |
probably damaging |
Het |
Gm20547 |
T |
A |
17: 35,076,095 (GRCm39) |
E654V |
probably damaging |
Het |
Gm839 |
T |
A |
6: 89,189,509 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2ird2 |
A |
T |
5: 134,246,456 (GRCm39) |
M905L |
possibly damaging |
Het |
Hoxb2 |
A |
T |
11: 96,243,910 (GRCm39) |
I174F |
probably damaging |
Het |
Hrh3 |
A |
G |
2: 179,742,608 (GRCm39) |
V308A |
probably benign |
Het |
Irak3 |
A |
T |
10: 120,018,566 (GRCm39) |
Y61N |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,358,276 (GRCm39) |
E614G |
probably damaging |
Het |
Lgals3 |
A |
T |
14: 47,622,982 (GRCm39) |
I214L |
probably benign |
Het |
Msh4 |
G |
T |
3: 153,577,962 (GRCm39) |
T444K |
possibly damaging |
Het |
Myh7b |
C |
A |
2: 155,463,330 (GRCm39) |
Q521K |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,359,536 (GRCm39) |
I567F |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,325,759 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
C |
T |
16: 3,771,887 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
A |
C |
8: 95,233,201 (GRCm39) |
E1353A |
possibly damaging |
Het |
Nr1h3 |
T |
A |
2: 91,020,911 (GRCm39) |
I260F |
probably damaging |
Het |
Pcnx1 |
G |
A |
12: 82,010,894 (GRCm39) |
R1211Q |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,168,293 (GRCm39) |
K605E |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,382,708 (GRCm39) |
E1215G |
possibly damaging |
Het |
Pex12 |
A |
G |
11: 83,188,753 (GRCm39) |
S81P |
probably damaging |
Het |
Pik3c2b |
C |
A |
1: 132,994,718 (GRCm39) |
Y227* |
probably null |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Prkg2 |
T |
G |
5: 99,172,365 (GRCm39) |
S117R |
probably benign |
Het |
Prl3d2 |
A |
T |
13: 27,311,266 (GRCm39) |
E179D |
probably benign |
Het |
Relch |
T |
A |
1: 105,647,189 (GRCm39) |
L684M |
possibly damaging |
Het |
Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,626 (GRCm39) |
T1748A |
possibly damaging |
Het |
Septin10 |
T |
C |
10: 59,028,000 (GRCm39) |
N107S |
possibly damaging |
Het |
Smu1 |
T |
A |
4: 40,739,550 (GRCm39) |
N420I |
probably damaging |
Het |
Sos1 |
A |
G |
17: 80,726,445 (GRCm39) |
F835L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,888,879 (GRCm39) |
D2164G |
probably damaging |
Het |
Svbp |
A |
G |
4: 119,053,127 (GRCm39) |
E8G |
probably damaging |
Het |
Tgm3 |
T |
A |
2: 129,883,899 (GRCm39) |
M519K |
probably damaging |
Het |
Tspan12 |
A |
G |
6: 21,799,876 (GRCm39) |
|
probably null |
Het |
Vps52 |
T |
C |
17: 34,177,324 (GRCm39) |
V122A |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,264,427 (GRCm39) |
Y458C |
probably damaging |
Het |
Zfp369 |
T |
A |
13: 65,442,265 (GRCm39) |
D286E |
possibly damaging |
Het |
|
Other mutations in Ints9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01143:Ints9
|
APN |
14 |
65,274,870 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02374:Ints9
|
APN |
14 |
65,276,782 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02728:Ints9
|
APN |
14 |
65,230,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03151:Ints9
|
APN |
14 |
65,269,789 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0437:Ints9
|
UTSW |
14 |
65,223,818 (GRCm39) |
splice site |
probably benign |
|
R0582:Ints9
|
UTSW |
14 |
65,217,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R1525:Ints9
|
UTSW |
14 |
65,232,460 (GRCm39) |
missense |
probably benign |
0.05 |
R1569:Ints9
|
UTSW |
14 |
65,217,571 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1835:Ints9
|
UTSW |
14 |
65,269,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R1839:Ints9
|
UTSW |
14 |
65,253,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R1862:Ints9
|
UTSW |
14 |
65,263,862 (GRCm39) |
missense |
probably benign |
|
R1892:Ints9
|
UTSW |
14 |
65,257,872 (GRCm39) |
missense |
probably benign |
0.08 |
R2146:Ints9
|
UTSW |
14 |
65,223,792 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2285:Ints9
|
UTSW |
14 |
65,245,446 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3015:Ints9
|
UTSW |
14 |
65,187,727 (GRCm39) |
missense |
probably benign |
0.00 |
R4133:Ints9
|
UTSW |
14 |
65,228,003 (GRCm39) |
missense |
probably benign |
|
R4180:Ints9
|
UTSW |
14 |
65,230,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R4509:Ints9
|
UTSW |
14 |
65,266,381 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4510:Ints9
|
UTSW |
14 |
65,266,381 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4511:Ints9
|
UTSW |
14 |
65,266,381 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4608:Ints9
|
UTSW |
14 |
65,269,729 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5023:Ints9
|
UTSW |
14 |
65,217,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R5117:Ints9
|
UTSW |
14 |
65,230,540 (GRCm39) |
nonsense |
probably null |
|
R5261:Ints9
|
UTSW |
14 |
65,245,521 (GRCm39) |
missense |
probably benign |
0.25 |
R5582:Ints9
|
UTSW |
14 |
65,266,345 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5990:Ints9
|
UTSW |
14 |
65,276,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R6009:Ints9
|
UTSW |
14 |
65,245,531 (GRCm39) |
missense |
probably benign |
0.43 |
R6241:Ints9
|
UTSW |
14 |
65,217,659 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6351:Ints9
|
UTSW |
14 |
65,230,456 (GRCm39) |
missense |
probably damaging |
0.98 |
R6821:Ints9
|
UTSW |
14 |
65,274,907 (GRCm39) |
missense |
probably benign |
0.20 |
R7422:Ints9
|
UTSW |
14 |
65,269,747 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7442:Ints9
|
UTSW |
14 |
65,232,513 (GRCm39) |
nonsense |
probably null |
|
R7475:Ints9
|
UTSW |
14 |
65,263,914 (GRCm39) |
missense |
probably null |
0.23 |
R8183:Ints9
|
UTSW |
14 |
65,273,902 (GRCm39) |
missense |
probably damaging |
0.98 |
R8223:Ints9
|
UTSW |
14 |
65,257,809 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8282:Ints9
|
UTSW |
14 |
65,244,757 (GRCm39) |
missense |
probably benign |
0.00 |
R8314:Ints9
|
UTSW |
14 |
65,266,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Ints9
|
UTSW |
14 |
65,273,863 (GRCm39) |
missense |
probably benign |
0.14 |
R8548:Ints9
|
UTSW |
14 |
65,269,770 (GRCm39) |
missense |
probably benign |
0.39 |
R9356:Ints9
|
UTSW |
14 |
65,269,770 (GRCm39) |
missense |
probably benign |
0.39 |
R9434:Ints9
|
UTSW |
14 |
65,245,506 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Ints9
|
UTSW |
14 |
65,274,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |