Incidental Mutation 'IGL00743:Ints10'
| ID |
11472 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ints10
|
| Ensembl Gene |
ENSMUSG00000031864 |
| Gene Name |
integrator complex subunit 10 |
| Synonyms |
4921521J11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
69245729-69282062 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69271985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 562
(P562L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034328]
[ENSMUST00000070713]
[ENSMUST00000110241]
[ENSMUST00000110242]
|
| AlphaFold |
Q8K2A7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034328
AA Change: P562L
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034328
Gene: ENSMUSG00000031864
AA Change: P562L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070713
AA Change: P562L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069908
Gene: ENSMUSG00000031864
AA Change: P562L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110241
AA Change: P562L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105870
Gene: ENSMUSG00000031864
AA Change: P562L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110242
AA Change: P562L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105871
Gene: ENSMUSG00000031864
AA Change: P562L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140309
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147072
|
| SMART Domains |
Protein: ENSMUSP00000118390
Gene: ENSMUSG00000031864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
111 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| Acss1 |
T |
C |
2: 150,461,606 (GRCm39) |
E659G |
probably benign |
Het |
| Adgrg6 |
A |
C |
10: 14,411,703 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,718,227 (GRCm39) |
K323E |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,424,416 (GRCm39) |
S628R |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,950,395 (GRCm39) |
V443A |
probably benign |
Het |
| Bclaf3 |
T |
A |
X: 158,341,357 (GRCm39) |
F545Y |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,717,196 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,278,501 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,875,153 (GRCm39) |
T312A |
probably benign |
Het |
| Chrnd |
G |
A |
1: 87,120,649 (GRCm39) |
W91* |
probably null |
Het |
| Cntln |
T |
C |
4: 84,897,652 (GRCm39) |
F413S |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,183,998 (GRCm39) |
I308N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,736 (GRCm39) |
V258D |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,039,979 (GRCm39) |
P2044S |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hps6 |
A |
T |
19: 45,992,099 (GRCm39) |
D12V |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,846,865 (GRCm39) |
D188G |
probably benign |
Het |
| Id2 |
C |
A |
12: 25,145,355 (GRCm39) |
E123* |
probably null |
Het |
| Kctd10 |
G |
A |
5: 114,505,410 (GRCm39) |
R195C |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,665,509 (GRCm39) |
L537R |
probably damaging |
Het |
| Kif19a |
T |
C |
11: 114,675,599 (GRCm39) |
V357A |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,924,988 (GRCm39) |
S60T |
probably damaging |
Het |
| Myof |
C |
A |
19: 37,949,382 (GRCm39) |
R608L |
probably benign |
Het |
| Naa35 |
A |
T |
13: 59,778,485 (GRCm39) |
I669F |
probably benign |
Het |
| Or8g2b |
A |
T |
9: 39,751,002 (GRCm39) |
I91F |
probably benign |
Het |
| Or8g53 |
A |
G |
9: 39,683,407 (GRCm39) |
S230P |
possibly damaging |
Het |
| Pclo |
G |
T |
5: 14,728,035 (GRCm39) |
|
probably benign |
Het |
| Pik3c3 |
C |
T |
18: 30,407,417 (GRCm39) |
S55F |
probably damaging |
Het |
| Prdm6 |
T |
G |
18: 53,673,300 (GRCm39) |
D153E |
possibly damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,610 (GRCm39) |
T63A |
probably benign |
Het |
| Samd4b |
A |
C |
7: 28,101,302 (GRCm39) |
I108S |
probably damaging |
Het |
| Slc9a7 |
T |
C |
X: 19,972,260 (GRCm39) |
D708G |
possibly damaging |
Het |
| Stim2 |
A |
G |
5: 54,210,835 (GRCm39) |
D90G |
probably benign |
Het |
| Tmem52b |
A |
G |
6: 129,493,678 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,652,518 (GRCm39) |
R98G |
probably benign |
Het |
| Uxs1 |
C |
T |
1: 43,796,173 (GRCm39) |
V310I |
probably benign |
Het |
| Vcan |
A |
C |
13: 89,873,425 (GRCm39) |
M143R |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,504 (GRCm39) |
F792S |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,355,962 (GRCm39) |
I345T |
probably benign |
Het |
| Zfp938 |
A |
T |
10: 82,062,317 (GRCm39) |
M101K |
probably benign |
Het |
| Zkscan2 |
A |
G |
7: 123,079,195 (GRCm39) |
S921P |
probably damaging |
Het |
|
| Other mutations in Ints10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R6465:Ints10
|
UTSW |
8 |
69,260,188 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation