Incidental Mutation 'R9356:Ints9'
| ID |
708433 |
| 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 # |
R9356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
65187494-65277284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65269770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 487
(S487P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043914]
|
| AlphaFold |
Q8K114 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043914
AA Change: S487P
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: S487P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,206,305 (GRCm39) |
V202M |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,264,144 (GRCm39) |
I354N |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,510,236 (GRCm39) |
D710E |
probably damaging |
Het |
| Apba2 |
A |
T |
7: 64,345,421 (GRCm39) |
N204Y |
probably damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,394,627 (GRCm39) |
V139A |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,239,653 (GRCm39) |
E251G |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,687,408 (GRCm39) |
D530G |
probably benign |
Het |
| Chrna7 |
A |
T |
7: 62,757,437 (GRCm39) |
V154E |
probably damaging |
Het |
| Cldn15 |
T |
C |
5: 136,996,968 (GRCm39) |
V3A |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,252,069 (GRCm39) |
L929Q |
probably damaging |
Het |
| Ctss |
A |
C |
3: 95,454,120 (GRCm39) |
H224P |
possibly damaging |
Het |
| Cyp4a12a |
C |
A |
4: 115,185,915 (GRCm39) |
H408N |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpr162 |
T |
C |
6: 124,838,297 (GRCm39) |
M118V |
possibly damaging |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,899,825 (GRCm39) |
C495* |
probably null |
Het |
| Jmjd4 |
T |
A |
11: 59,345,761 (GRCm39) |
D280E |
probably benign |
Het |
| Krtap1-4 |
G |
A |
11: 99,474,169 (GRCm39) |
Q96* |
probably null |
Het |
| Ksr2 |
T |
A |
5: 117,827,706 (GRCm39) |
I495N |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,088,186 (GRCm39) |
N864Y |
probably damaging |
Het |
| Lce1f |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
3: 92,626,272 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,022,538 (GRCm39) |
V414A |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,415 (GRCm39) |
F211S |
probably damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,443,312 (GRCm39) |
E665G |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,938,837 (GRCm39) |
L86F |
probably damaging |
Het |
| Mfsd10 |
C |
A |
5: 34,794,048 (GRCm39) |
E22* |
probably null |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,482,760 (GRCm39) |
M735V |
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,725,873 (GRCm39) |
M1060L |
probably benign |
Het |
| Myo7b |
C |
A |
18: 32,110,096 (GRCm39) |
S1122I |
probably damaging |
Het |
| Nudt17 |
T |
A |
3: 96,613,688 (GRCm39) |
R313S |
probably damaging |
Het |
| Or52n5 |
A |
G |
7: 104,588,373 (GRCm39) |
I213M |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,089 (GRCm39) |
Q193L |
probably benign |
Het |
| Or6c65 |
T |
G |
10: 129,604,035 (GRCm39) |
I223M |
possibly damaging |
Het |
| Or8h7 |
T |
A |
2: 86,720,605 (GRCm39) |
M305L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,617,890 (GRCm39) |
Y1741C |
probably damaging |
Het |
| Pja2 |
A |
G |
17: 64,618,204 (GRCm39) |
V65A |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,043,318 (GRCm39) |
V325A |
probably benign |
Het |
| Prss36 |
T |
C |
7: 127,545,697 (GRCm39) |
|
probably benign |
Het |
| Ptpn20 |
T |
G |
14: 33,352,865 (GRCm39) |
Y201* |
probably null |
Het |
| Rundc3a |
T |
C |
11: 102,292,890 (GRCm39) |
S428P |
probably damaging |
Het |
| Rxra |
T |
A |
2: 27,649,675 (GRCm39) |
L460Q |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,597,948 (GRCm39) |
V182M |
probably damaging |
Het |
| Slc14a2 |
A |
C |
18: 78,227,823 (GRCm39) |
I226S |
probably null |
Het |
| Spam1 |
T |
A |
6: 24,800,565 (GRCm39) |
C435S |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,125,157 (GRCm39) |
K2618E |
possibly damaging |
Het |
| Stbd1 |
A |
G |
5: 92,753,277 (GRCm39) |
T256A |
possibly damaging |
Het |
| Ttc39c |
T |
A |
18: 12,853,102 (GRCm39) |
|
probably null |
Het |
| Uba3 |
T |
C |
6: 97,161,811 (GRCm39) |
D440G |
probably benign |
Het |
| Ythdf1 |
A |
C |
2: 180,553,998 (GRCm39) |
S72R |
probably benign |
Het |
| Zfp770 |
T |
C |
2: 114,026,917 (GRCm39) |
E384G |
possibly damaging |
Het |
| Zfp979 |
G |
T |
4: 147,698,358 (GRCm39) |
T117K |
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 |
|
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 |
|
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'- TGGGCCATACTGTTTCCTTG -3'
(R):5'- GGCAGCATCCTACAGAACTG -3'
Sequencing Primer
(F):5'- GCGCATCCTTTCCTGACAAGG -3'
(R):5'- GCAGCATCCTACAGAACTGAAGAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation