Incidental Mutation 'R6003:Ints2'
ID |
478473 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints2
|
Ensembl Gene |
ENSMUSG00000018068 |
Gene Name |
integrator complex subunit 2 |
Synonyms |
2810417D08Rik |
MMRRC Submission |
043252-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6003 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86129294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 460
(E460G)
|
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: E460G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018212 Gene: ENSMUSG00000018068 AA Change: E460G
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: E460G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103674 Gene: ENSMUSG00000018068 AA Change: E460G
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,312 (GRCm39) |
E157G |
probably benign |
Het |
Abcb11 |
T |
C |
2: 69,073,811 (GRCm39) |
K1238R |
probably benign |
Het |
Ankar |
T |
A |
1: 72,738,046 (GRCm39) |
E45D |
probably damaging |
Het |
Antxrl |
G |
T |
14: 33,797,592 (GRCm39) |
K522N |
possibly damaging |
Het |
Ap1m1 |
A |
G |
8: 73,003,011 (GRCm39) |
Y93C |
probably damaging |
Het |
As3mt |
C |
T |
19: 46,696,567 (GRCm39) |
T35M |
possibly damaging |
Het |
Aspg |
T |
C |
12: 112,079,476 (GRCm39) |
S85P |
probably damaging |
Het |
Cachd1 |
T |
C |
4: 100,809,216 (GRCm39) |
S234P |
possibly damaging |
Het |
Ccdc3 |
T |
C |
2: 5,146,218 (GRCm39) |
|
probably null |
Het |
Cnpy1 |
T |
C |
5: 28,450,759 (GRCm39) |
T16A |
probably benign |
Het |
Cope |
T |
C |
8: 70,757,285 (GRCm39) |
L43P |
probably benign |
Het |
E2f8 |
T |
C |
7: 48,520,525 (GRCm39) |
M599V |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,755,319 (GRCm39) |
D954E |
unknown |
Het |
Gfpt1 |
T |
A |
6: 87,065,230 (GRCm39) |
|
probably null |
Het |
Ggps1 |
T |
G |
13: 14,228,587 (GRCm39) |
S145R |
probably benign |
Het |
Gon4l |
A |
G |
3: 88,803,400 (GRCm39) |
D1337G |
probably damaging |
Het |
Gtf2a1l |
G |
T |
17: 89,001,531 (GRCm39) |
G82V |
probably damaging |
Het |
Gucy1b1 |
C |
A |
3: 81,965,584 (GRCm39) |
L87F |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,311 (GRCm39) |
V76A |
probably benign |
Het |
Kdm4b |
C |
T |
17: 56,703,916 (GRCm39) |
R756W |
probably damaging |
Het |
Lax1 |
T |
A |
1: 133,611,834 (GRCm39) |
I34F |
probably benign |
Het |
Marveld3 |
A |
T |
8: 110,680,960 (GRCm39) |
C312S |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,237,254 (GRCm39) |
D824G |
possibly damaging |
Het |
Nrxn2 |
C |
A |
19: 6,548,358 (GRCm39) |
A17D |
possibly damaging |
Het |
Nup133 |
A |
T |
8: 124,665,031 (GRCm39) |
I220N |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,189,751 (GRCm39) |
V984A |
probably benign |
Het |
Nup54 |
A |
T |
5: 92,570,853 (GRCm39) |
D318E |
probably damaging |
Het |
Obp2a |
A |
T |
2: 25,591,151 (GRCm39) |
K94N |
probably damaging |
Het |
Or2ak5 |
A |
T |
11: 58,611,196 (GRCm39) |
I226N |
probably benign |
Het |
Or5b3 |
T |
C |
19: 13,388,403 (GRCm39) |
S157P |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,763,820 (GRCm39) |
I564V |
probably benign |
Het |
Parpbp |
A |
G |
10: 87,969,020 (GRCm39) |
V142A |
possibly damaging |
Het |
Rdh16f2 |
A |
T |
10: 127,712,201 (GRCm39) |
R219S |
probably benign |
Het |
Rfx6 |
C |
T |
10: 51,584,683 (GRCm39) |
R228C |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,749,767 (GRCm39) |
|
probably null |
Het |
Rskr |
T |
G |
11: 78,183,846 (GRCm39) |
|
probably null |
Het |
Slc15a2 |
T |
C |
16: 36,574,910 (GRCm39) |
I531V |
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,097,930 (GRCm39) |
E58G |
possibly damaging |
Het |
Tmem214 |
C |
A |
5: 31,028,068 (GRCm39) |
T96K |
possibly damaging |
Het |
Usp19 |
T |
C |
9: 108,373,579 (GRCm39) |
Y691H |
probably damaging |
Het |
Vmn1r86 |
C |
T |
7: 12,836,125 (GRCm39) |
W200* |
probably null |
Het |
Vmn2r8 |
A |
T |
5: 108,945,248 (GRCm39) |
S786R |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,175,068 (GRCm39) |
M1K |
probably null |
Het |
Zzef1 |
T |
A |
11: 72,714,891 (GRCm39) |
|
probably null |
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 |
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'- AGACTAAGTCAATGATAGCACTAAGCT -3'
(R):5'- AGTCTTTAAGAATGAGGAAAAGCTG -3'
Sequencing Primer
(F):5'- GCTGGTTGCTATGGAAATACATG -3'
(R):5'- CCATCGGTAATGAGATCTGATGCC -3'
|
Posted On |
2017-06-26 |