Incidental Mutation 'R1503:Ints2'
| ID |
169470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
039553-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1503 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86117607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 705
(R705H)
|
| 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: R705H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: R705H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: R705H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: R705H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134828
AA Change: R18H
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146421
|
| Meta Mutation Damage Score |
0.3766 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Atf7ip |
G |
T |
6: 136,583,865 (GRCm39) |
V1299L |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,610,881 (GRCm39) |
N342Y |
probably damaging |
Het |
| Atp8b5 |
G |
A |
4: 43,344,430 (GRCm39) |
G439D |
probably damaging |
Het |
| Bpifb2 |
G |
A |
2: 153,731,430 (GRCm39) |
D269N |
possibly damaging |
Het |
| Btd |
T |
G |
14: 31,389,612 (GRCm39) |
C444W |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,328,575 (GRCm39) |
D1624G |
probably benign |
Het |
| Carmil3 |
A |
C |
14: 55,735,737 (GRCm39) |
N563T |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,122,726 (GRCm39) |
R538G |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,961,525 (GRCm39) |
K416E |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,906,760 (GRCm39) |
N66S |
probably benign |
Het |
| Cd48 |
T |
A |
1: 171,523,415 (GRCm39) |
L86H |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,560,056 (GRCm39) |
H369Q |
probably damaging |
Het |
| Chil4 |
T |
C |
3: 106,113,350 (GRCm39) |
D189G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,011,959 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Cntn3 |
G |
A |
6: 102,441,526 (GRCm39) |
Q7* |
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,923,658 (GRCm39) |
I5F |
possibly damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,435,523 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,495,649 (GRCm39) |
S1426P |
probably damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,342,867 (GRCm39) |
S1404A |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,848,159 (GRCm39) |
C484S |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,582,736 (GRCm39) |
I125F |
probably damaging |
Het |
| Egfr |
T |
A |
11: 16,819,301 (GRCm39) |
M277K |
possibly damaging |
Het |
| Eml5 |
G |
T |
12: 98,797,433 (GRCm39) |
L1059I |
probably damaging |
Het |
| Erbb4 |
G |
T |
1: 68,385,705 (GRCm39) |
H295N |
probably benign |
Het |
| Etl4 |
T |
G |
2: 20,748,685 (GRCm39) |
V139G |
possibly damaging |
Het |
| Fhip1a |
T |
A |
3: 85,579,784 (GRCm39) |
Y807F |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,413,647 (GRCm39) |
E1969D |
probably damaging |
Het |
| Gdf3 |
T |
A |
6: 122,583,296 (GRCm39) |
D357V |
probably damaging |
Het |
| Gimap8 |
T |
A |
6: 48,624,463 (GRCm39) |
|
probably null |
Het |
| Gml2 |
C |
A |
15: 74,693,201 (GRCm39) |
S68* |
probably null |
Het |
| Gphn |
A |
G |
12: 78,551,403 (GRCm39) |
I248V |
possibly damaging |
Het |
| Greb1 |
A |
T |
12: 16,774,820 (GRCm39) |
Y192* |
probably null |
Het |
| Hmbs |
A |
C |
9: 44,248,729 (GRCm39) |
L215W |
probably benign |
Het |
| Iglon5 |
T |
A |
7: 43,128,449 (GRCm39) |
T123S |
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,245,842 (GRCm39) |
L212Q |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,797,293 (GRCm39) |
Y846C |
probably benign |
Het |
| Kcnj1 |
A |
G |
9: 32,307,788 (GRCm39) |
T51A |
probably damaging |
Het |
| Kif9 |
A |
T |
9: 110,339,506 (GRCm39) |
K449N |
possibly damaging |
Het |
| Kifbp |
A |
G |
10: 62,395,187 (GRCm39) |
V485A |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,428,333 (GRCm39) |
W241* |
probably null |
Het |
| Krt32 |
T |
C |
11: 99,974,936 (GRCm39) |
|
probably null |
Het |
| Loxl1 |
A |
G |
9: 58,200,923 (GRCm39) |
F513S |
probably damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,123,897 (GRCm39) |
S571T |
probably damaging |
Het |
| Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
| Mtss1 |
T |
C |
15: 58,823,521 (GRCm39) |
N282S |
probably damaging |
Het |
| Myh13 |
T |
A |
11: 67,244,500 (GRCm39) |
D1012E |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,552,817 (GRCm39) |
T952A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,188,632 (GRCm39) |
D874G |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,040,403 (GRCm39) |
Y553H |
probably damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,082,312 (GRCm39) |
V9D |
probably benign |
Het |
| Nxf1 |
T |
A |
19: 8,739,800 (GRCm39) |
F51L |
probably benign |
Het |
| Or1e1f |
T |
G |
11: 73,855,394 (GRCm39) |
|
probably null |
Het |
| Or1j15 |
A |
T |
2: 36,458,885 (GRCm39) |
I92F |
probably damaging |
Het |
| Or2aj5 |
A |
G |
16: 19,425,062 (GRCm39) |
S119P |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,872 (GRCm39) |
V250A |
probably damaging |
Het |
| Or5bw2 |
A |
G |
7: 6,573,470 (GRCm39) |
N160S |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,191 (GRCm39) |
S220P |
probably damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,178 (GRCm39) |
I232V |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,572 (GRCm39) |
N76Y |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,297,685 (GRCm39) |
F217I |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,578,599 (GRCm39) |
H434Q |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,878,386 (GRCm39) |
F291I |
possibly damaging |
Het |
| R3hdm2 |
G |
T |
10: 127,307,695 (GRCm39) |
E319* |
probably null |
Het |
| Sel1l3 |
A |
G |
5: 53,295,271 (GRCm39) |
Y777H |
probably damaging |
Het |
| Serpinb5 |
G |
A |
1: 106,798,019 (GRCm39) |
A3T |
possibly damaging |
Het |
| Skp2 |
C |
A |
15: 9,127,998 (GRCm39) |
V88F |
probably damaging |
Het |
| Slc25a16 |
T |
C |
10: 62,764,155 (GRCm39) |
Y71H |
probably damaging |
Het |
| Slc6a6 |
T |
A |
6: 91,717,973 (GRCm39) |
I304N |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sox17 |
C |
A |
1: 4,562,151 (GRCm39) |
G222C |
probably damaging |
Het |
| Trmu |
T |
A |
15: 85,779,220 (GRCm39) |
V289E |
possibly damaging |
Het |
| Vdac2 |
A |
G |
14: 21,887,945 (GRCm39) |
E96G |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,484,857 (GRCm39) |
D885E |
probably benign |
Het |
| Zfp646 |
A |
G |
7: 127,479,308 (GRCm39) |
N495S |
probably damaging |
Het |
| Zfp663 |
T |
C |
2: 165,194,573 (GRCm39) |
T549A |
probably damaging |
Het |
| Zfp935 |
G |
A |
13: 62,602,951 (GRCm39) |
A83V |
possibly 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 |
|
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'- GGGAATGAGCGGTTACTGTACCTTC -3'
(R):5'- TAGAGCTGGGCATGGCATCTAGAG -3'
Sequencing Primer
(F):5'- ATTCGCCTTAACAGCGCA -3'
(R):5'- TCTAGAGCCACAGTTGAGCC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation