Incidental Mutation 'IGL03151:Ints9'
| ID |
411100 |
| 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 # |
IGL03151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
64950045-65039832 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65032340 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 493
(V493E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043914]
|
| AlphaFold |
Q8K114 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043914
AA Change: V493E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: V493E
| 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: 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700074P13Rik |
A |
G |
6: 40,926,012 (GRCm38) |
F142S |
probably damaging |
Het |
| Acot1 |
G |
A |
12: 84,014,552 (GRCm38) |
A211T |
probably damaging |
Het |
| Ampd1 |
T |
C |
3: 103,092,470 (GRCm38) |
|
probably null |
Het |
| Armc3 |
T |
G |
2: 19,238,698 (GRCm38) |
L75R |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,776,850 (GRCm38) |
D573G |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,909,149 (GRCm38) |
|
probably null |
Het |
| BC037034 |
A |
G |
5: 138,262,672 (GRCm38) |
L237S |
possibly damaging |
Het |
| C1ra |
A |
T |
6: 124,519,771 (GRCm38) |
I389F |
probably benign |
Het |
| Ccdc87 |
T |
A |
19: 4,841,557 (GRCm38) |
N692K |
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,774,573 (GRCm38) |
|
probably benign |
Het |
| Ces4a |
G |
T |
8: 105,148,197 (GRCm38) |
|
probably null |
Het |
| Dazap1 |
G |
A |
10: 80,280,920 (GRCm38) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 67,866,067 (GRCm38) |
Y45H |
probably damaging |
Het |
| Eloa |
A |
T |
4: 136,010,421 (GRCm38) |
Y409* |
probably null |
Het |
| Fam170a |
A |
G |
18: 50,281,641 (GRCm38) |
E118G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,650,769 (GRCm38) |
G193E |
possibly damaging |
Het |
| Glra1 |
C |
T |
11: 55,527,380 (GRCm38) |
V180I |
probably damaging |
Het |
| Il17rb |
T |
C |
14: 30,006,853 (GRCm38) |
T28A |
probably benign |
Het |
| Kcnq5 |
C |
T |
1: 21,535,069 (GRCm38) |
C204Y |
probably damaging |
Het |
| Npc1 |
A |
T |
18: 12,219,275 (GRCm38) |
N122K |
probably benign |
Het |
| Olfr124 |
G |
A |
17: 37,805,268 (GRCm38) |
G41D |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,132,189 (GRCm38) |
V548I |
probably benign |
Het |
| Prss21 |
A |
G |
17: 23,869,402 (GRCm38) |
T114A |
probably damaging |
Het |
| Rab10 |
G |
A |
12: 3,249,812 (GRCm38) |
T193M |
probably benign |
Het |
| Serpini1 |
T |
A |
3: 75,613,296 (GRCm38) |
S67T |
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,390,386 (GRCm38) |
|
probably null |
Het |
| Sorbs2 |
A |
T |
8: 45,799,713 (GRCm38) |
H388L |
probably benign |
Het |
| Tfap2c |
T |
A |
2: 172,557,190 (GRCm38) |
C427* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,802,388 (GRCm38) |
F14107L |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,335,387 (GRCm38) |
T774K |
probably damaging |
Het |
| Vmn1r170 |
G |
A |
7: 23,606,577 (GRCm38) |
V135M |
probably benign |
Het |
| Vmn2r14 |
C |
T |
5: 109,216,394 (GRCm38) |
C552Y |
probably damaging |
Het |
| Zfp367 |
A |
G |
13: 64,145,631 (GRCm38) |
I147T |
probably damaging |
Het |
| Zfp952 |
T |
C |
17: 33,003,008 (GRCm38) |
S116P |
probably benign |
Het |
|
| Other mutations in Ints9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Ints9
|
APN |
14 |
65,037,421 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02374:Ints9
|
APN |
14 |
65,039,333 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02728:Ints9
|
APN |
14 |
64,993,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02992:Ints9
|
APN |
14 |
64,980,164 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0437:Ints9
|
UTSW |
14 |
64,986,369 (GRCm38) |
splice site |
probably benign |
|
|
R0582:Ints9
|
UTSW |
14 |
64,980,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1525:Ints9
|
UTSW |
14 |
64,995,011 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1569:Ints9
|
UTSW |
14 |
64,980,122 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1835:Ints9
|
UTSW |
14 |
65,032,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1839:Ints9
|
UTSW |
14 |
65,016,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1862:Ints9
|
UTSW |
14 |
65,026,413 (GRCm38) |
missense |
probably benign |
|
|
R1892:Ints9
|
UTSW |
14 |
65,020,423 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2146:Ints9
|
UTSW |
14 |
64,986,343 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2285:Ints9
|
UTSW |
14 |
65,007,997 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3015:Ints9
|
UTSW |
14 |
64,950,278 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4133:Ints9
|
UTSW |
14 |
64,990,554 (GRCm38) |
missense |
probably benign |
|
|
R4180:Ints9
|
UTSW |
14 |
64,992,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4509:Ints9
|
UTSW |
14 |
65,028,932 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4510:Ints9
|
UTSW |
14 |
65,028,932 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4511:Ints9
|
UTSW |
14 |
65,028,932 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4608:Ints9
|
UTSW |
14 |
65,032,280 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5023:Ints9
|
UTSW |
14 |
64,980,228 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5117:Ints9
|
UTSW |
14 |
64,993,091 (GRCm38) |
nonsense |
probably null |
|
|
R5261:Ints9
|
UTSW |
14 |
65,008,072 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5582:Ints9
|
UTSW |
14 |
65,028,896 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5990:Ints9
|
UTSW |
14 |
65,039,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6009:Ints9
|
UTSW |
14 |
65,008,082 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6241:Ints9
|
UTSW |
14 |
64,980,210 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6351:Ints9
|
UTSW |
14 |
64,993,007 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6821:Ints9
|
UTSW |
14 |
65,037,458 (GRCm38) |
missense |
probably benign |
0.20 |
|
R7422:Ints9
|
UTSW |
14 |
65,032,298 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7442:Ints9
|
UTSW |
14 |
64,995,064 (GRCm38) |
nonsense |
probably null |
|
|
R7475:Ints9
|
UTSW |
14 |
65,026,465 (GRCm38) |
missense |
probably null |
0.23 |
|
R8183:Ints9
|
UTSW |
14 |
65,036,453 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8223:Ints9
|
UTSW |
14 |
65,020,360 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8282:Ints9
|
UTSW |
14 |
65,007,308 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8314:Ints9
|
UTSW |
14 |
65,029,030 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8341:Ints9
|
UTSW |
14 |
65,036,414 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8548:Ints9
|
UTSW |
14 |
65,032,321 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9356:Ints9
|
UTSW |
14 |
65,032,321 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9434:Ints9
|
UTSW |
14 |
65,008,057 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Ints9
|
UTSW |
14 |
65,037,454 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation