Incidental Mutation 'R0355:Ints2'
| ID |
29783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
038561-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0355 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86125575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 542
(T542A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018212
AA Change: T542A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: T542A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: T542A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: T542A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134883
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146421
|
| Meta Mutation Damage Score |
0.0576 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 90.2%
|
| Validation Efficiency |
100% (76/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,023,021 (GRCm39) |
I52M |
possibly damaging |
Het |
| Agbl5 |
G |
T |
5: 31,049,335 (GRCm39) |
|
probably null |
Het |
| Akt2 |
T |
C |
7: 27,336,334 (GRCm39) |
|
probably benign |
Het |
| Arl6ip5 |
T |
A |
6: 97,209,378 (GRCm39) |
S138T |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,952,800 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,553,919 (GRCm39) |
N422Y |
probably damaging |
Het |
| Ccr5 |
C |
T |
9: 123,924,951 (GRCm39) |
P185S |
possibly damaging |
Het |
| Cep63 |
G |
T |
9: 102,500,759 (GRCm39) |
Q38K |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,682,242 (GRCm39) |
S446G |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,952,206 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,968,330 (GRCm39) |
Q3099L |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,708,279 (GRCm39) |
T479I |
possibly damaging |
Het |
| Dclre1a |
A |
G |
19: 56,535,067 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
T |
A |
16: 31,502,992 (GRCm39) |
C66* |
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,427,272 (GRCm39) |
|
probably null |
Het |
| Dnajb9 |
T |
A |
12: 44,253,987 (GRCm39) |
H140L |
probably damaging |
Het |
| Dnase1 |
G |
A |
16: 3,857,413 (GRCm39) |
V237M |
probably damaging |
Het |
| Dscam |
C |
A |
16: 96,456,105 (GRCm39) |
E1274D |
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,727,572 (GRCm39) |
H243R |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,473,656 (GRCm39) |
|
probably benign |
Het |
| Fcgrt |
T |
A |
7: 44,752,493 (GRCm39) |
M1L |
unknown |
Het |
| Flii |
T |
C |
11: 60,610,506 (GRCm39) |
|
probably null |
Het |
| Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
| Gm10447 |
T |
C |
11: 53,347,257 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,101,054 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
A |
T |
13: 50,055,975 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr137 |
G |
C |
19: 6,916,491 (GRCm39) |
D253E |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,343,652 (GRCm39) |
D116V |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,151,554 (GRCm39) |
|
probably benign |
Het |
| Havcr1 |
A |
G |
11: 46,647,051 (GRCm39) |
T162A |
possibly damaging |
Het |
| Hspa1l |
A |
T |
17: 35,196,386 (GRCm39) |
T142S |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,267,409 (GRCm39) |
Y602* |
probably null |
Het |
| Il18 |
T |
A |
9: 50,490,575 (GRCm39) |
|
probably benign |
Het |
| Ilf3 |
T |
C |
9: 21,309,266 (GRCm39) |
V474A |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,476,664 (GRCm39) |
Y771C |
probably damaging |
Het |
| Ipo7 |
T |
C |
7: 109,648,868 (GRCm39) |
Y714H |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 124,077,997 (GRCm39) |
C162* |
probably null |
Het |
| Kcp |
T |
C |
6: 29,496,926 (GRCm39) |
H561R |
possibly damaging |
Het |
| Krt23 |
G |
T |
11: 99,376,613 (GRCm39) |
T181N |
probably benign |
Het |
| Lrrc40 |
A |
T |
3: 157,746,108 (GRCm39) |
D61V |
probably damaging |
Het |
| Lypd4 |
T |
A |
7: 24,564,691 (GRCm39) |
H149L |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,473,058 (GRCm39) |
F953L |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,972,982 (GRCm39) |
P405S |
probably damaging |
Het |
| Mfsd2a |
G |
A |
4: 122,845,632 (GRCm39) |
T173I |
possibly damaging |
Het |
| Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,330,782 (GRCm39) |
V213A |
probably benign |
Het |
| Nipsnap1 |
G |
A |
11: 4,839,957 (GRCm39) |
G226E |
probably damaging |
Het |
| Nudt15 |
T |
C |
14: 73,760,824 (GRCm39) |
Y89C |
probably damaging |
Het |
| Or10g7 |
T |
A |
9: 39,905,459 (GRCm39) |
S118T |
possibly damaging |
Het |
| Or10h28 |
T |
A |
17: 33,488,109 (GRCm39) |
M137K |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,808 (GRCm39) |
M68K |
probably benign |
Het |
| Or7a37 |
T |
G |
10: 78,806,267 (GRCm39) |
S261R |
probably damaging |
Het |
| Phf24 |
A |
C |
4: 42,933,891 (GRCm39) |
E91A |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,618,165 (GRCm39) |
N17I |
possibly damaging |
Het |
| Por |
C |
T |
5: 135,761,438 (GRCm39) |
S308L |
probably benign |
Het |
| Prmt8 |
T |
A |
6: 127,688,837 (GRCm39) |
K178* |
probably null |
Het |
| Rev3l |
A |
G |
10: 39,693,282 (GRCm39) |
N454S |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,539,009 (GRCm39) |
V309A |
probably benign |
Het |
| Slc15a5 |
A |
G |
6: 137,995,112 (GRCm39) |
|
probably benign |
Het |
| Slc30a6 |
G |
A |
17: 74,730,198 (GRCm39) |
V363I |
probably benign |
Het |
| Snf8 |
G |
A |
11: 95,930,125 (GRCm39) |
M42I |
probably benign |
Het |
| Stom |
T |
C |
2: 35,215,371 (GRCm39) |
I65V |
probably benign |
Het |
| Tacr3 |
C |
T |
3: 134,637,989 (GRCm39) |
T382I |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,682,010 (GRCm39) |
V2540A |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,816 (GRCm39) |
T314A |
possibly damaging |
Het |
| Tyk2 |
T |
C |
9: 21,025,486 (GRCm39) |
|
probably null |
Het |
| Ube4a |
T |
C |
9: 44,856,099 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,589,015 (GRCm39) |
H1060R |
possibly damaging |
Het |
| Virma |
A |
T |
4: 11,528,626 (GRCm39) |
K1288* |
probably null |
Het |
| Vmn2r100 |
A |
C |
17: 19,751,582 (GRCm39) |
I542L |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,187,806 (GRCm39) |
|
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,245,018 (GRCm39) |
I797T |
possibly damaging |
Het |
| Zfp74 |
C |
T |
7: 29,653,466 (GRCm39) |
|
probably benign |
Het |
| Zkscan7 |
T |
A |
9: 122,717,872 (GRCm39) |
L89Q |
probably damaging |
Het |
|
| Other mutations in Ints2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Ints2
|
APN |
11 |
86,123,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Ints2
|
APN |
11 |
86,124,009 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02612:Ints2
|
APN |
11 |
86,106,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03396:Ints2
|
APN |
11 |
86,103,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0015:Ints2
|
UTSW |
11 |
86,140,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Ints2
|
UTSW |
11 |
86,140,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Ints2
|
UTSW |
11 |
86,139,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Ints2
|
UTSW |
11 |
86,124,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0944:Ints2
|
UTSW |
11 |
86,135,289 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1268:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1269:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Ints2
|
UTSW |
11 |
86,140,074 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1474:Ints2
|
UTSW |
11 |
86,117,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1503:Ints2
|
UTSW |
11 |
86,117,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1840:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Ints2
|
UTSW |
11 |
86,108,626 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1990:Ints2
|
UTSW |
11 |
86,139,760 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1991:Ints2
|
UTSW |
11 |
86,139,760 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3694:Ints2
|
UTSW |
11 |
86,133,827 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4056:Ints2
|
UTSW |
11 |
86,133,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4057:Ints2
|
UTSW |
11 |
86,133,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Ints2
|
UTSW |
11 |
86,147,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Ints2
|
UTSW |
11 |
86,140,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Ints2
|
UTSW |
11 |
86,140,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Ints2
|
UTSW |
11 |
86,147,035 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4929:Ints2
|
UTSW |
11 |
86,103,479 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5031:Ints2
|
UTSW |
11 |
86,147,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5064:Ints2
|
UTSW |
11 |
86,140,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5270:Ints2
|
UTSW |
11 |
86,106,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Ints2
|
UTSW |
11 |
86,133,773 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5875:Ints2
|
UTSW |
11 |
86,129,138 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5908:Ints2
|
UTSW |
11 |
86,106,371 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5914:Ints2
|
UTSW |
11 |
86,113,000 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5941:Ints2
|
UTSW |
11 |
86,141,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5975:Ints2
|
UTSW |
11 |
86,117,574 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6003:Ints2
|
UTSW |
11 |
86,129,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Ints2
|
UTSW |
11 |
86,127,429 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6209:Ints2
|
UTSW |
11 |
86,115,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6567:Ints2
|
UTSW |
11 |
86,117,487 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6764:Ints2
|
UTSW |
11 |
86,103,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7033:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7132:Ints2
|
UTSW |
11 |
86,108,580 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7337:Ints2
|
UTSW |
11 |
86,108,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7410:Ints2
|
UTSW |
11 |
86,124,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7483:Ints2
|
UTSW |
11 |
86,106,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Ints2
|
UTSW |
11 |
86,122,881 (GRCm39) |
missense |
probably benign |
|
|
R7804:Ints2
|
UTSW |
11 |
86,103,489 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7845:Ints2
|
UTSW |
11 |
86,129,089 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7875:Ints2
|
UTSW |
11 |
86,103,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7918:Ints2
|
UTSW |
11 |
86,113,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Ints2
|
UTSW |
11 |
86,135,453 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8058:Ints2
|
UTSW |
11 |
86,146,179 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8134:Ints2
|
UTSW |
11 |
86,103,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8189:Ints2
|
UTSW |
11 |
86,106,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Ints2
|
UTSW |
11 |
86,115,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8348:Ints2
|
UTSW |
11 |
86,146,249 (GRCm39) |
missense |
probably benign |
|
|
R8448:Ints2
|
UTSW |
11 |
86,146,249 (GRCm39) |
missense |
probably benign |
|
|
R8784:Ints2
|
UTSW |
11 |
86,115,941 (GRCm39) |
nonsense |
probably null |
|
|
R8784:Ints2
|
UTSW |
11 |
86,112,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Ints2
|
UTSW |
11 |
86,103,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9037:Ints2
|
UTSW |
11 |
86,106,530 (GRCm39) |
missense |
probably benign |
|
|
R9154:Ints2
|
UTSW |
11 |
86,125,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9397:Ints2
|
UTSW |
11 |
86,135,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9412:Ints2
|
UTSW |
11 |
86,117,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9472:Ints2
|
UTSW |
11 |
86,133,824 (GRCm39) |
missense |
|
|
|
R9476:Ints2
|
UTSW |
11 |
86,135,335 (GRCm39) |
missense |
probably benign |
|
|
R9510:Ints2
|
UTSW |
11 |
86,135,335 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCAAGACCAGCTTGCATTTGTTTGAT -3'
(R):5'- ATTGTTCATCCTCGTGGACTGCATT -3'
Sequencing Primer
(F):5'- cacctctccagcccTGAAC -3'
(R):5'- GACTGCATTTAAGTGTTGATGGT -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation