Incidental Mutation 'R2285:Ints9'
| ID |
243286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints9
|
| Ensembl Gene |
ENSMUSG00000021975 |
| Gene Name |
integrator complex subunit 9 |
| Synonyms |
D14Ertd231e |
| MMRRC Submission |
040284-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2285 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
65187494-65277284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65245446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 235
(F235L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043914]
|
| AlphaFold |
Q8K114 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043914
AA Change: F235L
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: F235L
| 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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,087,037 (GRCm39) |
Y532H |
probably damaging |
Het |
| Bbs9 |
T |
G |
9: 22,590,230 (GRCm39) |
L656W |
probably damaging |
Het |
| Cibar2 |
T |
C |
8: 120,895,276 (GRCm39) |
N209D |
probably benign |
Het |
| Clu |
T |
C |
14: 66,218,408 (GRCm39) |
S423P |
probably benign |
Het |
| Cnpy4 |
A |
G |
5: 138,191,087 (GRCm39) |
|
probably null |
Het |
| Col28a1 |
A |
T |
6: 8,097,078 (GRCm39) |
V440E |
probably damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,344,301 (GRCm39) |
N121S |
probably benign |
Het |
| Cpa5 |
G |
T |
6: 30,615,063 (GRCm39) |
V67L |
probably benign |
Het |
| Emilin1 |
G |
A |
5: 31,075,544 (GRCm39) |
R595H |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 16,287,469 (GRCm39) |
Q685K |
probably damaging |
Het |
| Gfra4 |
C |
T |
2: 130,883,651 (GRCm39) |
R34H |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,049,308 (GRCm39) |
V410M |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Mipep |
T |
C |
14: 61,024,843 (GRCm39) |
S95P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nxpe3 |
C |
T |
16: 55,686,588 (GRCm39) |
G140D |
probably damaging |
Het |
| Or6c66b |
A |
G |
10: 129,376,537 (GRCm39) |
I44V |
probably benign |
Het |
| Ppcs |
T |
A |
4: 119,276,174 (GRCm39) |
K137I |
possibly damaging |
Het |
| Tmc1 |
A |
G |
19: 20,767,163 (GRCm39) |
M731T |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,677 (GRCm39) |
V115D |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,611,246 (GRCm39) |
T1190I |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,684,137 (GRCm39) |
F251I |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAACTGGTCTTTGAGTCTTGACTG -3'
(R):5'- ACAGCACTAGAGACCTGCTG -3'
Sequencing Primer
(F):5'- AATGCCTTCCCCTGAGCGTG -3'
(R):5'- CAGCACTAGAGACCTGCTGAATTTG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation