Incidental Mutation 'IGL00807:Ints2'
ID |
11474 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ints2
|
Ensembl Gene |
ENSMUSG00000018068 |
Gene Name |
integrator complex subunit 2 |
Synonyms |
2810417D08Rik |
Accession Numbers |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00807
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
86210681-86257575 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86233135 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 609
(N609S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103674
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
|
AlphaFold |
Q80UK8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018212
AA Change: N609S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018212 Gene: ENSMUSG00000018068 AA Change: N609S
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: N609S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103674 Gene: ENSMUSG00000018068 AA Change: N609S
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127745
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146421
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS2 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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,378,285 |
T3453S |
probably benign |
Het |
Ahnak |
T |
A |
19: 9,008,522 |
V2390E |
possibly damaging |
Het |
Aldh8a1 |
A |
T |
10: 21,395,430 |
I352F |
probably damaging |
Het |
Ccnt2 |
T |
C |
1: 127,797,891 |
|
probably benign |
Het |
Ccr1l1 |
A |
T |
9: 123,977,469 |
W314R |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 180,141,453 |
I1218V |
possibly damaging |
Het |
Dlc1 |
G |
A |
8: 36,572,848 |
T1386I |
probably benign |
Het |
Frs2 |
A |
C |
10: 117,074,886 |
|
probably benign |
Het |
Gm4951 |
C |
T |
18: 60,245,411 |
S6F |
probably damaging |
Het |
Gria1 |
T |
C |
11: 57,012,040 |
Y3H |
probably benign |
Het |
Lyst |
T |
A |
13: 13,650,423 |
M1541K |
possibly damaging |
Het |
Mmachc |
A |
T |
4: 116,705,921 |
V79E |
probably damaging |
Het |
Nfe2l2 |
T |
C |
2: 75,679,413 |
D21G |
probably damaging |
Het |
Pde2a |
G |
A |
7: 101,504,412 |
V436M |
probably damaging |
Het |
Rhot1 |
C |
T |
11: 80,226,102 |
H101Y |
probably benign |
Het |
Sh2d4a |
T |
C |
8: 68,329,366 |
|
probably null |
Het |
Taar2 |
A |
G |
10: 23,940,675 |
M38V |
probably benign |
Het |
Tek |
A |
T |
4: 94,798,719 |
N158I |
probably damaging |
Het |
Znrd1as |
G |
T |
17: 36,964,921 |
A132S |
probably damaging |
Het |
|
Other mutations in Ints2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02490:Ints2
|
APN |
11 |
86233183 |
missense |
possibly damaging |
0.93 |
IGL02612:Ints2
|
APN |
11 |
86215578 |
missense |
probably damaging |
1.00 |
IGL03396:Ints2
|
APN |
11 |
86213062 |
missense |
probably damaging |
0.99 |
R0015:Ints2
|
UTSW |
11 |
86249287 |
missense |
probably damaging |
1.00 |
R0015:Ints2
|
UTSW |
11 |
86249287 |
missense |
probably damaging |
1.00 |
R0355:Ints2
|
UTSW |
11 |
86234749 |
missense |
probably benign |
0.00 |
R0389:Ints2
|
UTSW |
11 |
86248851 |
missense |
probably damaging |
1.00 |
R0631:Ints2
|
UTSW |
11 |
86233196 |
missense |
probably benign |
0.02 |
R0944:Ints2
|
UTSW |
11 |
86244463 |
missense |
possibly damaging |
0.85 |
R1268:Ints2
|
UTSW |
11 |
86233085 |
missense |
probably damaging |
1.00 |
R1269:Ints2
|
UTSW |
11 |
86233085 |
missense |
probably damaging |
1.00 |
R1270:Ints2
|
UTSW |
11 |
86233085 |
missense |
probably damaging |
1.00 |
R1396:Ints2
|
UTSW |
11 |
86249248 |
missense |
probably damaging |
0.98 |
R1474:Ints2
|
UTSW |
11 |
86226781 |
missense |
probably damaging |
0.97 |
R1503:Ints2
|
UTSW |
11 |
86226781 |
missense |
probably damaging |
0.97 |
R1840:Ints2
|
UTSW |
11 |
86233085 |
missense |
probably damaging |
1.00 |
R1987:Ints2
|
UTSW |
11 |
86217800 |
missense |
probably benign |
0.03 |
R1990:Ints2
|
UTSW |
11 |
86248934 |
missense |
possibly damaging |
0.58 |
R1991:Ints2
|
UTSW |
11 |
86248934 |
missense |
possibly damaging |
0.58 |
R3694:Ints2
|
UTSW |
11 |
86243001 |
missense |
probably benign |
0.41 |
R4056:Ints2
|
UTSW |
11 |
86242952 |
missense |
probably damaging |
1.00 |
R4057:Ints2
|
UTSW |
11 |
86242952 |
missense |
probably damaging |
1.00 |
R4569:Ints2
|
UTSW |
11 |
86256198 |
missense |
probably damaging |
1.00 |
R4585:Ints2
|
UTSW |
11 |
86249275 |
missense |
probably damaging |
1.00 |
R4586:Ints2
|
UTSW |
11 |
86249275 |
missense |
probably damaging |
1.00 |
R4806:Ints2
|
UTSW |
11 |
86256209 |
missense |
probably benign |
0.10 |
R4929:Ints2
|
UTSW |
11 |
86212653 |
missense |
possibly damaging |
0.56 |
R5031:Ints2
|
UTSW |
11 |
86256200 |
missense |
probably damaging |
1.00 |
R5064:Ints2
|
UTSW |
11 |
86249274 |
missense |
probably damaging |
1.00 |
R5270:Ints2
|
UTSW |
11 |
86215795 |
missense |
probably damaging |
1.00 |
R5621:Ints2
|
UTSW |
11 |
86242947 |
missense |
probably benign |
0.32 |
R5875:Ints2
|
UTSW |
11 |
86238312 |
missense |
probably benign |
0.04 |
R5908:Ints2
|
UTSW |
11 |
86215545 |
critical splice donor site |
probably null |
|
R5914:Ints2
|
UTSW |
11 |
86222174 |
missense |
probably benign |
0.03 |
R5941:Ints2
|
UTSW |
11 |
86250972 |
missense |
probably benign |
0.01 |
R5975:Ints2
|
UTSW |
11 |
86226748 |
missense |
possibly damaging |
0.72 |
R6003:Ints2
|
UTSW |
11 |
86238468 |
missense |
probably damaging |
1.00 |
R6091:Ints2
|
UTSW |
11 |
86236603 |
missense |
probably damaging |
0.96 |
R6209:Ints2
|
UTSW |
11 |
86225058 |
missense |
probably damaging |
1.00 |
R6567:Ints2
|
UTSW |
11 |
86226661 |
missense |
probably benign |
0.42 |
R6764:Ints2
|
UTSW |
11 |
86212779 |
missense |
probably benign |
0.00 |
R7033:Ints2
|
UTSW |
11 |
86233085 |
missense |
probably damaging |
1.00 |
R7132:Ints2
|
UTSW |
11 |
86217754 |
missense |
probably benign |
0.26 |
R7337:Ints2
|
UTSW |
11 |
86217842 |
missense |
probably benign |
0.00 |
R7410:Ints2
|
UTSW |
11 |
86233226 |
missense |
probably benign |
0.02 |
R7483:Ints2
|
UTSW |
11 |
86215618 |
missense |
probably damaging |
1.00 |
R7503:Ints2
|
UTSW |
11 |
86232055 |
missense |
probably benign |
|
R7804:Ints2
|
UTSW |
11 |
86212663 |
missense |
possibly damaging |
0.92 |
R7845:Ints2
|
UTSW |
11 |
86238263 |
missense |
possibly damaging |
0.93 |
R7875:Ints2
|
UTSW |
11 |
86213062 |
missense |
probably damaging |
0.99 |
R7918:Ints2
|
UTSW |
11 |
86222217 |
missense |
probably damaging |
1.00 |
R7922:Ints2
|
UTSW |
11 |
86244627 |
missense |
probably benign |
0.29 |
R8058:Ints2
|
UTSW |
11 |
86255353 |
missense |
probably benign |
0.05 |
R8134:Ints2
|
UTSW |
11 |
86212660 |
missense |
probably damaging |
1.00 |
R8189:Ints2
|
UTSW |
11 |
86215570 |
missense |
probably damaging |
1.00 |
R8295:Ints2
|
UTSW |
11 |
86225088 |
missense |
probably damaging |
0.97 |
R8348:Ints2
|
UTSW |
11 |
86255423 |
missense |
probably benign |
|
R8448:Ints2
|
UTSW |
11 |
86255423 |
missense |
probably benign |
|
R8784:Ints2
|
UTSW |
11 |
86222137 |
missense |
probably damaging |
1.00 |
R8784:Ints2
|
UTSW |
11 |
86225115 |
nonsense |
probably null |
|
R8942:Ints2
|
UTSW |
11 |
86212894 |
missense |
probably benign |
0.00 |
R9037:Ints2
|
UTSW |
11 |
86215704 |
missense |
probably benign |
|
R9154:Ints2
|
UTSW |
11 |
86234698 |
missense |
probably damaging |
1.00 |
R9397:Ints2
|
UTSW |
11 |
86244485 |
missense |
probably benign |
0.01 |
R9412:Ints2
|
UTSW |
11 |
86226763 |
missense |
probably damaging |
0.99 |
R9472:Ints2
|
UTSW |
11 |
86242998 |
missense |
|
|
R9476:Ints2
|
UTSW |
11 |
86244509 |
missense |
probably benign |
|
R9510:Ints2
|
UTSW |
11 |
86244509 |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |