Incidental Mutation 'R6465:Ints10'
ID |
517777 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints10
|
Ensembl Gene |
ENSMUSG00000031864 |
Gene Name |
integrator complex subunit 10 |
Synonyms |
4921521J11Rik |
MMRRC Submission |
044598-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6465 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
69245729-69282062 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69260188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 304
(N304S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034328]
[ENSMUST00000070713]
[ENSMUST00000110241]
[ENSMUST00000110242]
|
AlphaFold |
Q8K2A7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034328
AA Change: N304S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034328 Gene: ENSMUSG00000031864 AA Change: N304S
Domain | Start | End | E-Value | Type |
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070713
AA Change: N304S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000069908 Gene: ENSMUSG00000031864 AA Change: N304S
Domain | Start | End | E-Value | Type |
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110241
AA Change: N304S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105870 Gene: ENSMUSG00000031864 AA Change: N304S
Domain | Start | End | E-Value | Type |
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110242
AA Change: N304S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105871 Gene: ENSMUSG00000031864 AA Change: N304S
Domain | Start | End | E-Value | Type |
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140309
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
95% (40/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
G |
A |
6: 128,518,041 (GRCm39) |
T1415I |
probably damaging |
Het |
Acvr2b |
T |
A |
9: 119,262,369 (GRCm39) |
W461R |
probably damaging |
Het |
Adam23 |
G |
T |
1: 63,605,827 (GRCm39) |
C637F |
probably damaging |
Het |
Apol8 |
T |
G |
15: 77,634,148 (GRCm39) |
T143P |
probably benign |
Het |
Bfsp1 |
A |
C |
2: 143,699,975 (GRCm39) |
|
probably null |
Het |
Cytl1 |
T |
C |
5: 37,895,014 (GRCm39) |
V99A |
probably benign |
Het |
Dock2 |
A |
T |
11: 34,453,413 (GRCm39) |
V793E |
probably damaging |
Het |
Fxyd5 |
G |
T |
7: 30,737,305 (GRCm39) |
T81K |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,972,151 (GRCm39) |
Y364C |
probably damaging |
Het |
Get3 |
A |
T |
8: 85,745,194 (GRCm39) |
M291K |
probably benign |
Het |
Haghl |
T |
C |
17: 26,002,793 (GRCm39) |
N190S |
possibly damaging |
Het |
Inpp5j |
C |
A |
11: 3,452,293 (GRCm39) |
R319L |
possibly damaging |
Het |
Isoc1 |
T |
A |
18: 58,804,328 (GRCm39) |
C119S |
probably damaging |
Het |
Klhl18 |
A |
G |
9: 110,257,988 (GRCm39) |
M414T |
probably benign |
Het |
Krtap2-4 |
A |
G |
11: 99,505,585 (GRCm39) |
|
probably benign |
Het |
Krtap3-1 |
G |
A |
11: 99,457,277 (GRCm39) |
P45S |
possibly damaging |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
G |
7: 97,711,887 (GRCm39) |
V1754A |
possibly damaging |
Het |
Nedd4l |
T |
A |
18: 65,288,335 (GRCm39) |
D119E |
probably benign |
Het |
Nsun7 |
T |
C |
5: 66,452,929 (GRCm39) |
V548A |
probably benign |
Het |
Or5m12 |
A |
T |
2: 85,734,883 (GRCm39) |
S172T |
probably benign |
Het |
Or6b6 |
A |
T |
7: 106,571,419 (GRCm39) |
V44E |
possibly damaging |
Het |
Parvg |
A |
G |
15: 84,213,141 (GRCm39) |
D127G |
probably damaging |
Het |
Pate13 |
A |
T |
9: 35,819,921 (GRCm39) |
N25Y |
possibly damaging |
Het |
Piezo2 |
T |
A |
18: 63,174,734 (GRCm39) |
M2007L |
possibly damaging |
Het |
Pou2f3 |
A |
C |
9: 43,051,162 (GRCm39) |
F175V |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 117,233,209 (GRCm39) |
I958T |
probably damaging |
Het |
Pwwp2b |
T |
C |
7: 138,835,951 (GRCm39) |
V464A |
probably benign |
Het |
Pzp |
A |
G |
6: 128,468,582 (GRCm39) |
Y982H |
probably damaging |
Het |
Rad17 |
T |
A |
13: 100,773,588 (GRCm39) |
N202I |
probably benign |
Het |
Rtel1 |
T |
A |
2: 180,977,733 (GRCm39) |
D271E |
possibly damaging |
Het |
Sos2 |
T |
C |
12: 69,643,549 (GRCm39) |
S943G |
probably benign |
Het |
Tdpoz6 |
A |
G |
3: 93,600,303 (GRCm39) |
I22T |
probably damaging |
Het |
Tm9sf2 |
A |
G |
14: 122,378,619 (GRCm39) |
H241R |
probably benign |
Het |
Ttc8 |
A |
G |
12: 98,930,829 (GRCm39) |
E291G |
probably damaging |
Het |
Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,096,576 (GRCm39) |
D1219E |
probably damaging |
Het |
Zc3hav1 |
T |
C |
6: 38,308,784 (GRCm39) |
Y586C |
possibly damaging |
Het |
Zcchc4 |
T |
A |
5: 52,976,618 (GRCm39) |
F471I |
probably benign |
Het |
Zfp719 |
C |
A |
7: 43,240,108 (GRCm39) |
Y565* |
probably null |
Het |
|
Other mutations in Ints10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00743:Ints10
|
APN |
8 |
69,271,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00964:Ints10
|
APN |
8 |
69,264,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02326:Ints10
|
APN |
8 |
69,257,485 (GRCm39) |
missense |
probably damaging |
0.99 |
R0012:Ints10
|
UTSW |
8 |
69,260,127 (GRCm39) |
missense |
probably benign |
0.01 |
R0112:Ints10
|
UTSW |
8 |
69,279,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R1302:Ints10
|
UTSW |
8 |
69,279,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:Ints10
|
UTSW |
8 |
69,260,296 (GRCm39) |
splice site |
probably benign |
|
R1540:Ints10
|
UTSW |
8 |
69,249,365 (GRCm39) |
splice site |
probably benign |
|
R1592:Ints10
|
UTSW |
8 |
69,255,555 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1845:Ints10
|
UTSW |
8 |
69,247,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Ints10
|
UTSW |
8 |
69,249,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2323:Ints10
|
UTSW |
8 |
69,271,997 (GRCm39) |
missense |
probably benign |
0.09 |
R3765:Ints10
|
UTSW |
8 |
69,277,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3910:Ints10
|
UTSW |
8 |
69,266,272 (GRCm39) |
missense |
probably damaging |
0.96 |
R3912:Ints10
|
UTSW |
8 |
69,266,272 (GRCm39) |
missense |
probably damaging |
0.96 |
R3913:Ints10
|
UTSW |
8 |
69,266,272 (GRCm39) |
missense |
probably damaging |
0.96 |
R4050:Ints10
|
UTSW |
8 |
69,280,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R4151:Ints10
|
UTSW |
8 |
69,247,250 (GRCm39) |
splice site |
probably null |
|
R4607:Ints10
|
UTSW |
8 |
69,263,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Ints10
|
UTSW |
8 |
69,263,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R4881:Ints10
|
UTSW |
8 |
69,263,256 (GRCm39) |
missense |
probably benign |
0.08 |
R4911:Ints10
|
UTSW |
8 |
69,279,964 (GRCm39) |
missense |
probably damaging |
0.98 |
R5255:Ints10
|
UTSW |
8 |
69,246,624 (GRCm39) |
start gained |
probably benign |
|
R5331:Ints10
|
UTSW |
8 |
69,273,472 (GRCm39) |
splice site |
probably null |
|
R5461:Ints10
|
UTSW |
8 |
69,246,693 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5740:Ints10
|
UTSW |
8 |
69,257,574 (GRCm39) |
missense |
probably damaging |
0.96 |
R5741:Ints10
|
UTSW |
8 |
69,257,574 (GRCm39) |
missense |
probably damaging |
0.96 |
R6128:Ints10
|
UTSW |
8 |
69,274,904 (GRCm39) |
critical splice donor site |
probably null |
|
R6868:Ints10
|
UTSW |
8 |
69,250,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R6983:Ints10
|
UTSW |
8 |
69,246,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R7076:Ints10
|
UTSW |
8 |
69,249,403 (GRCm39) |
nonsense |
probably null |
|
R7216:Ints10
|
UTSW |
8 |
69,274,809 (GRCm39) |
missense |
probably damaging |
0.96 |
R7652:Ints10
|
UTSW |
8 |
69,277,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8134:Ints10
|
UTSW |
8 |
69,255,638 (GRCm39) |
nonsense |
probably null |
|
R8176:Ints10
|
UTSW |
8 |
69,255,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R8185:Ints10
|
UTSW |
8 |
69,249,370 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8964:Ints10
|
UTSW |
8 |
69,264,631 (GRCm39) |
missense |
probably benign |
|
R9015:Ints10
|
UTSW |
8 |
69,260,139 (GRCm39) |
missense |
probably benign |
0.00 |
R9256:Ints10
|
UTSW |
8 |
69,261,129 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9320:Ints10
|
UTSW |
8 |
69,279,951 (GRCm39) |
missense |
probably damaging |
0.98 |
R9372:Ints10
|
UTSW |
8 |
69,271,967 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Ints10
|
UTSW |
8 |
69,261,126 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTCTCATACCTGCTTGCC -3'
(R):5'- TGAGAACTGGCACTACCCTG -3'
Sequencing Primer
(F):5'- CATACCTGCTTGCCTCTGG -3'
(R):5'- TTAATCCCTCAGCACTGGTGGAG -3'
|
Posted On |
2018-05-21 |