Incidental Mutation 'R1269:Ints2'
| ID |
151253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1269 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86210681-86257575 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86233085 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 626
(G626R)
|
| 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: G626R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: G626R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: G626R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: G626R
| 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
|
| Meta Mutation Damage Score |
0.3327 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430105I19Rik |
C |
T |
2: 118,761,390 |
E90K |
possibly damaging |
Het |
| Abcc3 |
C |
T |
11: 94,357,384 |
R1129Q |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,609,804 |
|
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,238,511 |
V400M |
probably damaging |
Het |
| Epc2 |
T |
A |
2: 49,522,576 |
S189T |
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,389,742 |
S83P |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,225,285 |
Q118R |
possibly damaging |
Het |
| Mbtps1 |
T |
C |
8: 119,520,277 |
D809G |
probably damaging |
Het |
| Nbea |
T |
C |
3: 56,004,781 |
E1195G |
probably benign |
Het |
| Nfasc |
G |
T |
1: 132,610,788 |
P454T |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,353,338 |
I894N |
possibly damaging |
Het |
| Picalm |
A |
T |
7: 90,165,549 |
R129* |
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,560,469 |
I101T |
probably damaging |
Het |
| Pstpip1 |
A |
G |
9: 56,114,306 |
D38G |
probably damaging |
Het |
| Sec13 |
A |
G |
6: 113,737,995 |
S3P |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,368,682 |
P51S |
probably damaging |
Het |
| Sytl1 |
A |
T |
4: 133,256,115 |
L370Q |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,008,358 |
I2658F |
possibly damaging |
Het |
| Tmc5 |
A |
G |
7: 118,666,593 |
M769V |
probably benign |
Het |
| Tspan8 |
A |
G |
10: 115,849,382 |
I232V |
probably damaging |
Het |
| Wbp1 |
G |
A |
6: 83,119,603 |
T156I |
probably benign |
Het |
| Wfikkn2 |
T |
C |
11: 94,238,475 |
Y280C |
probably damaging |
Het |
| Xrcc6 |
A |
T |
15: 82,022,847 |
Q123H |
possibly damaging |
Het |
| Zfp526 |
T |
C |
7: 25,224,363 |
S16P |
probably benign |
Het |
|
| Other mutations in Ints2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Ints2
|
APN |
11 |
86233135 |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAGGTTGAAATATCCCACAGGC -3'
(R):5'- CAGACAGCTATGTGAAACTTCCACTCC -3'
Sequencing Primer
(F):5'- tgcgactacccaggctac -3'
(R):5'- ATGTGAAACTTCCACTCCACTCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation