Incidental Mutation 'R5908:Ints2'
ID |
460802 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints2
|
Ensembl Gene |
ENSMUSG00000018068 |
Gene Name |
integrator complex subunit 2 |
Synonyms |
2810417D08Rik |
MMRRC Submission |
044105-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5908 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 86106371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103674
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
|
AlphaFold |
Q80UK8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018212
|
SMART Domains |
Protein: ENSMUSP00000018212 Gene: ENSMUSG00000018068
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108039
|
SMART Domains |
Protein: ENSMUSP00000103674 Gene: ENSMUSG00000018068
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128960
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
Meta Mutation Damage Score |
0.9499 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.8%
|
Validation Efficiency |
97% (69/71) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,624,730 (GRCm39) |
L198H |
probably damaging |
Het |
Anks1 |
C |
T |
17: 28,214,993 (GRCm39) |
T480I |
probably damaging |
Het |
Arhgef18 |
G |
A |
8: 3,503,165 (GRCm39) |
R857Q |
probably damaging |
Het |
B230208B08Rik |
A |
G |
4: 78,132,297 (GRCm39) |
|
noncoding transcript |
Het |
B9d2 |
T |
A |
7: 25,382,724 (GRCm39) |
W33R |
probably damaging |
Het |
Bcl2a1c |
A |
G |
9: 114,159,572 (GRCm39) |
T117A |
probably benign |
Het |
Btbd8 |
T |
G |
5: 107,655,460 (GRCm39) |
D574E |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,557,366 (GRCm39) |
S1091P |
probably damaging |
Het |
Clip3 |
C |
A |
7: 29,996,298 (GRCm39) |
D64E |
probably damaging |
Het |
Col6a5 |
C |
G |
9: 105,740,000 (GRCm39) |
D2540H |
possibly damaging |
Het |
Commd5 |
A |
T |
15: 76,785,136 (GRCm39) |
M178L |
probably benign |
Het |
Crtc3 |
T |
A |
7: 80,245,542 (GRCm39) |
H361L |
possibly damaging |
Het |
Dip2b |
T |
A |
15: 100,049,065 (GRCm39) |
L153Q |
possibly damaging |
Het |
Eif2s1 |
T |
A |
12: 78,926,817 (GRCm39) |
V189D |
probably damaging |
Het |
Etl4 |
C |
T |
2: 20,748,718 (GRCm39) |
A483V |
probably damaging |
Het |
Foxo3 |
T |
C |
10: 42,072,583 (GRCm39) |
I645V |
probably benign |
Het |
Gm4841 |
A |
G |
18: 60,403,506 (GRCm39) |
S196P |
possibly damaging |
Het |
Hip1 |
A |
G |
5: 135,453,717 (GRCm39) |
|
probably null |
Het |
Il36rn |
G |
T |
2: 24,167,502 (GRCm39) |
|
probably benign |
Het |
Khnyn |
A |
G |
14: 56,124,523 (GRCm39) |
D259G |
probably benign |
Het |
Lyst |
T |
A |
13: 13,871,346 (GRCm39) |
Y2694* |
probably null |
Het |
Map4k2 |
T |
C |
19: 6,401,346 (GRCm39) |
|
probably benign |
Het |
Marchf10 |
C |
T |
11: 105,281,065 (GRCm39) |
V407I |
probably benign |
Het |
Mast4 |
C |
A |
13: 102,874,764 (GRCm39) |
V1367F |
probably damaging |
Het |
Mrgprb3 |
A |
T |
7: 48,293,366 (GRCm39) |
S62T |
probably damaging |
Het |
Mthfd1l |
T |
C |
10: 4,039,392 (GRCm39) |
F801S |
probably damaging |
Het |
Nhsl3 |
A |
G |
4: 129,115,941 (GRCm39) |
S908P |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,031,239 (GRCm39) |
|
probably benign |
Het |
Nr2e1 |
T |
C |
10: 42,448,765 (GRCm39) |
S158G |
probably benign |
Het |
Nup214 |
A |
G |
2: 31,881,353 (GRCm39) |
I404V |
probably benign |
Het |
Or13n4 |
T |
C |
7: 106,423,404 (GRCm39) |
T110A |
probably benign |
Het |
Pik3c2g |
G |
A |
6: 139,714,436 (GRCm39) |
R196H |
|
Het |
Pik3r3 |
A |
T |
4: 116,129,955 (GRCm39) |
D213V |
probably benign |
Het |
Pip5k1b |
A |
T |
19: 24,374,501 (GRCm39) |
S27T |
possibly damaging |
Het |
Pkp1 |
G |
A |
1: 135,846,621 (GRCm39) |
Q44* |
probably null |
Het |
Pnma8b |
C |
T |
7: 16,680,968 (GRCm39) |
R651C |
unknown |
Het |
Pnpt1 |
T |
A |
11: 29,080,887 (GRCm39) |
S44T |
probably benign |
Het |
Polb |
A |
T |
8: 23,132,319 (GRCm39) |
|
probably null |
Het |
Pom121l2 |
A |
G |
13: 22,165,984 (GRCm39) |
N85S |
probably damaging |
Het |
Prim1 |
A |
G |
10: 127,853,893 (GRCm39) |
K104E |
probably damaging |
Het |
Prl8a1 |
T |
A |
13: 27,758,040 (GRCm39) |
Y223F |
probably benign |
Het |
Rbak |
T |
G |
5: 143,159,391 (GRCm39) |
H554P |
probably damaging |
Het |
Serpina3c |
T |
C |
12: 104,117,970 (GRCm39) |
R123G |
probably benign |
Het |
Sh3bp4 |
T |
G |
1: 89,073,605 (GRCm39) |
S818A |
probably damaging |
Het |
Sh3rf3 |
C |
G |
10: 58,885,270 (GRCm39) |
H384Q |
probably benign |
Het |
Slc9a8 |
C |
T |
2: 167,293,090 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
T |
C |
7: 27,103,678 (GRCm39) |
E1181G |
probably benign |
Het |
Taf2 |
G |
A |
15: 54,935,402 (GRCm39) |
|
probably benign |
Het |
Taf7l2 |
A |
T |
10: 115,949,133 (GRCm39) |
I131N |
probably benign |
Het |
Tbc1d9 |
A |
T |
8: 83,976,174 (GRCm39) |
M578L |
probably benign |
Het |
Tinagl1 |
G |
T |
4: 130,066,763 (GRCm39) |
Y111* |
probably null |
Het |
Tor2a |
T |
C |
2: 32,651,697 (GRCm39) |
L304P |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,067,304 (GRCm39) |
V474A |
probably benign |
Het |
Trrap |
C |
A |
5: 144,723,518 (GRCm39) |
A325E |
probably damaging |
Het |
Ube4a |
A |
G |
9: 44,859,322 (GRCm39) |
|
probably null |
Het |
Use1 |
G |
C |
8: 71,822,257 (GRCm39) |
K239N |
probably damaging |
Het |
Vps9d1 |
G |
T |
8: 123,973,563 (GRCm39) |
Q407K |
probably benign |
Het |
Zfp36l1 |
A |
T |
12: 80,156,449 (GRCm39) |
S311T |
possibly damaging |
Het |
Zfp729b |
T |
C |
13: 67,739,374 (GRCm39) |
K964E |
probably benign |
Het |
Zfp974 |
T |
A |
7: 27,610,382 (GRCm39) |
M448L |
probably benign |
Het |
Zfyve28 |
A |
T |
5: 34,374,214 (GRCm39) |
V600E |
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 |
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 |
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'- GTGTCAGTAATTGAACTTTCCTGAC -3'
(R):5'- TTGCTTGCCGACTGAAGAGG -3'
Sequencing Primer
(F):5'- GCAAAAGACCATGATCCTTTC -3'
(R):5'- GGTGCCAATTCAGACATCTCC -3'
|
Posted On |
2017-02-28 |