Incidental Mutation 'R6091:Ints2'
ID |
485936 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints2
|
Ensembl Gene |
ENSMUSG00000018068 |
Gene Name |
integrator complex subunit 2 |
Synonyms |
2810417D08Rik |
MMRRC Submission |
044248-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6091 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86127429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 501
(V501E)
|
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: V501E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000018212 Gene: ENSMUSG00000018068 AA Change: V501E
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: V501E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103674 Gene: ENSMUSG00000018068 AA Change: V501E
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 |
0.0901 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
Validation Efficiency |
96% (54/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
G |
2: 35,252,348 (GRCm39) |
T50P |
possibly damaging |
Het |
Adad1 |
A |
G |
3: 37,139,118 (GRCm39) |
E396G |
possibly damaging |
Het |
Adamtsl3 |
T |
A |
7: 82,114,829 (GRCm39) |
C232S |
probably damaging |
Het |
AI606181 |
T |
C |
19: 41,582,063 (GRCm39) |
S78P |
unknown |
Het |
Amph |
T |
A |
13: 19,309,293 (GRCm39) |
M457K |
probably benign |
Het |
Ano1 |
A |
T |
7: 144,223,171 (GRCm39) |
M174K |
probably benign |
Het |
C3 |
T |
A |
17: 57,528,967 (GRCm39) |
K632* |
probably null |
Het |
Cep170 |
C |
T |
1: 176,583,397 (GRCm39) |
G994D |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,751,875 (GRCm39) |
V124A |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,761,691 (GRCm39) |
K2259E |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,784,402 (GRCm39) |
T137A |
unknown |
Het |
Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
Ddx42 |
A |
T |
11: 106,125,796 (GRCm39) |
Q282L |
probably damaging |
Het |
Fcgbp |
A |
G |
7: 27,804,390 (GRCm39) |
T1833A |
possibly damaging |
Het |
Fpr-rs3 |
A |
G |
17: 20,844,532 (GRCm39) |
I203T |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,818,796 (GRCm39) |
I2139T |
probably benign |
Het |
Frmpd2 |
T |
C |
14: 33,244,820 (GRCm39) |
V546A |
probably damaging |
Het |
Gbp11 |
G |
T |
5: 105,479,254 (GRCm39) |
T123N |
possibly damaging |
Het |
Hs3st1 |
G |
A |
5: 39,772,007 (GRCm39) |
P212L |
probably damaging |
Het |
Ifnb1 |
T |
A |
4: 88,440,813 (GRCm39) |
M67L |
probably benign |
Het |
Ighv1-54 |
T |
C |
12: 115,157,497 (GRCm39) |
N50S |
probably benign |
Het |
Ikzf4 |
G |
A |
10: 128,470,542 (GRCm39) |
T326I |
probably benign |
Het |
Mfsd1 |
C |
A |
3: 67,507,270 (GRCm39) |
|
probably null |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mrps11 |
G |
A |
7: 78,438,466 (GRCm39) |
A73T |
possibly damaging |
Het |
Mterf4 |
T |
C |
1: 93,229,291 (GRCm39) |
E311G |
probably damaging |
Het |
Mx2 |
A |
G |
16: 97,347,635 (GRCm39) |
T176A |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,460,482 (GRCm39) |
L1495R |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,069,113 (GRCm39) |
T451A |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,685,111 (GRCm39) |
T90A |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,220,715 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,310,443 (GRCm39) |
L201P |
probably damaging |
Het |
Nfxl1 |
G |
T |
5: 72,671,533 (GRCm39) |
L909I |
probably benign |
Het |
Nr3c1 |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
18: 39,620,011 (GRCm39) |
|
probably benign |
Het |
Or5aq1b |
T |
A |
2: 86,901,705 (GRCm39) |
S258C |
probably benign |
Het |
Plscr5 |
A |
G |
9: 92,086,437 (GRCm39) |
T136A |
probably benign |
Het |
Ppp1r3a |
G |
A |
6: 14,719,339 (GRCm39) |
T525I |
probably benign |
Het |
Ptprg |
G |
A |
14: 12,215,979 (GRCm38) |
G1143R |
probably damaging |
Het |
Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,771,398 (GRCm39) |
T2541A |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,755,247 (GRCm39) |
L1244P |
probably damaging |
Het |
Sec16a |
G |
A |
2: 26,316,482 (GRCm39) |
H1673Y |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,428 (GRCm39) |
I44T |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,681 (GRCm39) |
N53Y |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,276,539 (GRCm39) |
T338A |
possibly damaging |
Het |
Taf6l |
T |
C |
19: 8,755,920 (GRCm39) |
T243A |
probably benign |
Het |
Tex10 |
T |
C |
4: 48,459,891 (GRCm39) |
R487G |
probably damaging |
Het |
Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
Tnxb |
G |
A |
17: 34,929,338 (GRCm39) |
V2794M |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,132,000 (GRCm39) |
C741G |
probably damaging |
Het |
Vmn1r3 |
T |
A |
4: 3,184,684 (GRCm39) |
I208F |
probably damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,496,790 (GRCm39) |
I21F |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,545,958 (GRCm39) |
D610G |
probably benign |
Het |
Wbp1 |
T |
C |
6: 83,096,468 (GRCm39) |
S229G |
probably benign |
Het |
Xirp1 |
A |
G |
9: 119,847,029 (GRCm39) |
V618A |
probably benign |
Het |
Zbtb32 |
A |
G |
7: 30,291,254 (GRCm39) |
S14P |
possibly damaging |
Het |
Zfp24 |
A |
G |
18: 24,147,269 (GRCm39) |
S348P |
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 |
R0355:Ints2
|
UTSW |
11 |
86,125,575 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- TACGGACCCACTCAAAGTTTTC -3'
(R):5'- GGTTCTACTTCAGTGTCTTAATGTC -3'
Sequencing Primer
(F):5'- GGACCCACTCAAAGTTTTCAAGAATC -3'
(R):5'- CTTAATGTCAGGCTTGAGAGGTCAC -3'
|
Posted On |
2017-08-16 |