Incidental Mutation 'R9434:Ints9'
| ID |
713188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints9
|
| Ensembl Gene |
ENSMUSG00000021975 |
| Gene Name |
integrator complex subunit 9 |
| Synonyms |
D14Ertd231e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65187494-65277284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65245506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 255
(I255V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043914]
|
| AlphaFold |
Q8K114 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043914
AA Change: I255V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: I255V
| 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 |
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,284 (GRCm39) |
I251V |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,666,292 (GRCm39) |
|
probably benign |
Het |
| Adipoq |
A |
G |
16: 22,965,697 (GRCm39) |
|
probably benign |
Het |
| Adnp |
C |
T |
2: 168,026,377 (GRCm39) |
R306Q |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,829 (GRCm39) |
N1519K |
|
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,217,092 (GRCm39) |
M15V |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,672,837 (GRCm39) |
D947G |
probably damaging |
Het |
| Crhr2 |
A |
T |
6: 55,069,512 (GRCm39) |
F381I |
probably damaging |
Het |
| Dmxl1 |
G |
T |
18: 50,010,788 (GRCm39) |
A982S |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,899,863 (GRCm39) |
V4375A |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,479,227 (GRCm39) |
E259G |
possibly damaging |
Het |
| Erbb4 |
T |
C |
1: 68,081,773 (GRCm39) |
D1087G |
possibly damaging |
Het |
| Fcgr2b |
A |
T |
1: 170,793,385 (GRCm39) |
S215T |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,816,702 (GRCm39) |
Y4145F |
possibly damaging |
Het |
| Fyb2 |
C |
T |
4: 104,847,534 (GRCm39) |
T518M |
probably damaging |
Het |
| Galk1 |
C |
T |
11: 115,903,494 (GRCm39) |
W4* |
probably null |
Het |
| Gmds |
C |
A |
13: 32,284,369 (GRCm39) |
D248Y |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,853,846 (GRCm39) |
F631I |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,839,226 (GRCm39) |
K55E |
possibly damaging |
Het |
| Il17rb |
T |
C |
14: 29,728,054 (GRCm39) |
E51G |
probably damaging |
Het |
| Ildr1 |
T |
A |
16: 36,529,862 (GRCm39) |
L83Q |
probably damaging |
Het |
| Itga9 |
G |
T |
9: 118,636,315 (GRCm39) |
D668Y |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Klhl35 |
A |
G |
7: 99,119,547 (GRCm39) |
Y344C |
probably damaging |
Het |
| Klra4 |
A |
G |
6: 130,040,083 (GRCm39) |
V63A |
possibly damaging |
Het |
| Lgr4 |
A |
G |
2: 109,836,907 (GRCm39) |
T414A |
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,157,314 (GRCm39) |
T184M |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,381,689 (GRCm39) |
D3795G |
possibly damaging |
Het |
| N6amt1 |
T |
A |
16: 87,159,421 (GRCm39) |
L109Q |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,365,755 (GRCm39) |
C215R |
probably benign |
Het |
| Ngef |
G |
A |
1: 87,408,315 (GRCm39) |
S584F |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,801,673 (GRCm39) |
C1174R |
probably damaging |
Het |
| Opa1 |
T |
C |
16: 29,404,874 (GRCm39) |
I24T |
probably benign |
Het |
| Or10v1 |
A |
C |
19: 11,873,393 (GRCm39) |
I3L |
probably benign |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,662 (GRCm39) |
I49F |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,591,254 (GRCm39) |
E19G |
probably benign |
Het |
| Or4a15 |
A |
G |
2: 89,193,692 (GRCm39) |
V27A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,542,512 (GRCm39) |
V1223A |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,933,492 (GRCm39) |
K118R |
unknown |
Het |
| Plcd1 |
A |
T |
9: 118,905,231 (GRCm39) |
M186K |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Sumf1 |
A |
T |
6: 108,130,096 (GRCm39) |
C233S |
possibly damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,902,461 (GRCm39) |
K540R |
probably benign |
Het |
| Tmem150c |
T |
C |
5: 100,240,643 (GRCm39) |
N73S |
probably damaging |
Het |
| Tpra1 |
T |
C |
6: 88,888,774 (GRCm39) |
S319P |
probably benign |
Het |
| Ttk |
C |
A |
9: 83,750,143 (GRCm39) |
Y699* |
probably null |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,790 (GRCm39) |
L143* |
probably null |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,745 (GRCm39) |
V825A |
possibly damaging |
Het |
| Zpld2 |
T |
G |
4: 133,929,553 (GRCm39) |
T251P |
probably benign |
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 |
|
IGL02992:Ints9
|
APN |
14 |
65,217,613 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
Z1176:Ints9
|
UTSW |
14 |
65,274,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCTGTTACAGCACAGCC -3'
(R):5'- ACGCACTCGCCTAGACTATC -3'
Sequencing Primer
(F):5'- ACAGCCACCATCATTCTGTCTG -3'
(R):5'- ACTCGCCTAGACTATCTAAGATCTAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation