Incidental Mutation 'R7033:Ints2'
| ID |
546470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
045134-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86210681-86257575 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86233085 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 626
(G626R)
|
| 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: G626R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: G626R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: G626R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: G626R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134883
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146421
|
| Meta Mutation Damage Score |
0.3327 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
96% (70/73) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
A |
G |
14: 41,997,417 (GRCm38) |
Y105C |
probably damaging |
Het |
| 2610301B20Rik |
A |
G |
4: 10,898,014 (GRCm38) |
T199A |
probably benign |
Het |
| Acr |
T |
C |
15: 89,569,500 (GRCm38) |
S81P |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,079,178 (GRCm38) |
|
probably null |
Het |
| Ank2 |
C |
A |
3: 126,944,850 (GRCm38) |
E2375* |
probably null |
Het |
| Avpi1 |
A |
G |
19: 42,124,977 (GRCm38) |
W14R |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,199,015 (GRCm38) |
V55A |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,639,392 (GRCm38) |
N149D |
probably damaging |
Het |
| Ccl25 |
A |
T |
8: 4,349,641 (GRCm38) |
|
probably benign |
Het |
| Celf5 |
A |
G |
10: 81,462,714 (GRCm38) |
L299P |
probably damaging |
Het |
| Cfap57 |
T |
G |
4: 118,613,126 (GRCm38) |
T186P |
possibly damaging |
Het |
| Chrm4 |
A |
G |
2: 91,928,347 (GRCm38) |
M367V |
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,516,904 (GRCm38) |
|
probably benign |
Het |
| Crybg3 |
G |
A |
16: 59,554,165 (GRCm38) |
P2242L |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,888,074 (GRCm38) |
V1031A |
probably damaging |
Het |
| Dbnl |
C |
A |
11: 5,798,102 (GRCm38) |
P313T |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,264,925 (GRCm38) |
F3637L |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,479,661 (GRCm38) |
I2979N |
probably damaging |
Het |
| Dusp10 |
T |
C |
1: 184,037,605 (GRCm38) |
V256A |
possibly damaging |
Het |
| Erlin2 |
T |
C |
8: 27,031,764 (GRCm38) |
V164A |
probably benign |
Het |
| Fam110a |
T |
C |
2: 151,970,211 (GRCm38) |
D213G |
probably damaging |
Het |
| Fkbp1a |
T |
C |
2: 151,557,500 (GRCm38) |
|
probably null |
Het |
| Foxg1 |
G |
A |
12: 49,384,720 (GRCm38) |
|
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,915,999 (GRCm38) |
S122G |
probably benign |
Het |
| Gm2042 |
A |
T |
12: 87,960,281 (GRCm38) |
D456V |
probably damaging |
Het |
| Gm8857 |
G |
T |
5: 10,950,551 (GRCm38) |
|
probably null |
Het |
| Grin2b |
A |
G |
6: 135,923,038 (GRCm38) |
Y282H |
probably damaging |
Het |
| Gys2 |
T |
C |
6: 142,472,722 (GRCm38) |
D27G |
probably benign |
Het |
| H2-DMa |
T |
A |
17: 34,136,997 (GRCm38) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,364,568 (GRCm38) |
I4245N |
possibly damaging |
Het |
| Incenp |
A |
G |
19: 9,893,372 (GRCm38) |
Y298H |
unknown |
Het |
| Kifc1 |
A |
T |
17: 33,883,697 (GRCm38) |
V314E |
probably damaging |
Het |
| Lurap1l |
C |
T |
4: 80,911,367 (GRCm38) |
P5S |
probably benign |
Het |
| Mtmr11 |
A |
G |
3: 96,169,946 (GRCm38) |
Y540C |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,756,324 (GRCm38) |
|
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,369,316 (GRCm38) |
E1860G |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,697,971 (GRCm38) |
V70L |
probably benign |
Het |
| Nbeal1 |
G |
A |
1: 60,310,947 (GRCm38) |
G2385D |
probably damaging |
Het |
| Ncaph2 |
G |
A |
15: 89,371,356 (GRCm38) |
A578T |
probably benign |
Het |
| Ncr1 |
T |
C |
7: 4,338,145 (GRCm38) |
V8A |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,256,168 (GRCm38) |
T73A |
probably damaging |
Het |
| Olfm1 |
G |
A |
2: 28,229,336 (GRCm38) |
D313N |
probably damaging |
Het |
| Olfr1196 |
T |
A |
2: 88,700,820 (GRCm38) |
N170Y |
probably damaging |
Het |
| Olfr275 |
A |
G |
4: 52,826,089 (GRCm38) |
M231V |
probably benign |
Het |
| Olfr749 |
A |
G |
14: 50,736,707 (GRCm38) |
F152L |
possibly damaging |
Het |
| Otog |
T |
A |
7: 46,267,398 (GRCm38) |
|
probably null |
Het |
| Peak1 |
G |
T |
9: 56,259,707 (GRCm38) |
D312E |
probably damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,940,251 (GRCm38) |
I331T |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 129,115,642 (GRCm38) |
V539A |
possibly damaging |
Het |
| Polr2a |
A |
T |
11: 69,747,213 (GRCm38) |
H143Q |
possibly damaging |
Het |
| Ppargc1b |
G |
T |
18: 61,307,714 (GRCm38) |
A711D |
probably damaging |
Het |
| Prnd |
T |
A |
2: 131,953,442 (GRCm38) |
C161S |
possibly damaging |
Het |
| Prrt4 |
A |
G |
6: 29,171,148 (GRCm38) |
L435P |
possibly damaging |
Het |
| Psen2 |
C |
T |
1: 180,227,520 (GRCm38) |
|
probably null |
Het |
| Psg23 |
T |
C |
7: 18,614,744 (GRCm38) |
E46G |
possibly damaging |
Het |
| Rasgef1b |
C |
T |
5: 99,232,336 (GRCm38) |
R350H |
probably damaging |
Het |
| Rfxank |
G |
C |
8: 70,138,170 (GRCm38) |
P16A |
probably benign |
Het |
| Sema6a |
A |
G |
18: 47,248,570 (GRCm38) |
I944T |
probably damaging |
Het |
| Serpinc1 |
A |
G |
1: 160,997,521 (GRCm38) |
T313A |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,804,271 (GRCm38) |
S36P |
possibly damaging |
Het |
| Slc36a1 |
C |
A |
11: 55,223,737 (GRCm38) |
R214S |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 42,030,983 (GRCm38) |
S982N |
possibly damaging |
Het |
| Syt1 |
A |
C |
10: 108,690,936 (GRCm38) |
D37E |
probably benign |
Het |
| Tcl1b5 |
A |
T |
12: 105,176,491 (GRCm38) |
D26V |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,895,223 (GRCm38) |
K2149* |
probably null |
Het |
| Ubc |
T |
A |
5: 125,388,174 (GRCm38) |
I30F |
probably damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,095,528 (GRCm38) |
E136D |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,754,475 (GRCm38) |
|
probably null |
Het |
| Vmn1r159 |
C |
T |
7: 22,842,864 (GRCm38) |
V248I |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,208,612 (GRCm38) |
H734R |
probably damaging |
Het |
| Wdr60 |
T |
C |
12: 116,211,891 (GRCm38) |
M889V |
probably benign |
Het |
| Xrcc2 |
T |
G |
5: 25,692,709 (GRCm38) |
I81L |
possibly damaging |
Het |
| Zfat |
A |
C |
15: 68,181,015 (GRCm38) |
I310S |
probably damaging |
Het |
| Zfp119a |
A |
G |
17: 55,866,009 (GRCm38) |
V278A |
probably benign |
Het |
| Zfp53 |
A |
G |
17: 21,500,246 (GRCm38) |
K33E |
probably benign |
Het |
| Zfp866 |
G |
T |
8: 69,765,841 (GRCm38) |
H376Q |
probably damaging |
Het |
|
| Other mutations in Ints2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Ints2
|
APN |
11 |
86,233,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02490:Ints2
|
APN |
11 |
86,233,183 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02612:Ints2
|
APN |
11 |
86,215,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03396:Ints2
|
APN |
11 |
86,213,062 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0015:Ints2
|
UTSW |
11 |
86,249,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0015:Ints2
|
UTSW |
11 |
86,249,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0355:Ints2
|
UTSW |
11 |
86,234,749 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0389:Ints2
|
UTSW |
11 |
86,248,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0631:Ints2
|
UTSW |
11 |
86,233,196 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0944:Ints2
|
UTSW |
11 |
86,244,463 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1268:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1269:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1270:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:Ints2
|
UTSW |
11 |
86,249,248 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1474:Ints2
|
UTSW |
11 |
86,226,781 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1503:Ints2
|
UTSW |
11 |
86,226,781 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1840:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1987:Ints2
|
UTSW |
11 |
86,217,800 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1990:Ints2
|
UTSW |
11 |
86,248,934 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1991:Ints2
|
UTSW |
11 |
86,248,934 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R3694:Ints2
|
UTSW |
11 |
86,243,001 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4056:Ints2
|
UTSW |
11 |
86,242,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4057:Ints2
|
UTSW |
11 |
86,242,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4569:Ints2
|
UTSW |
11 |
86,256,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4585:Ints2
|
UTSW |
11 |
86,249,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4586:Ints2
|
UTSW |
11 |
86,249,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4806:Ints2
|
UTSW |
11 |
86,256,209 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4929:Ints2
|
UTSW |
11 |
86,212,653 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5031:Ints2
|
UTSW |
11 |
86,256,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5064:Ints2
|
UTSW |
11 |
86,249,274 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5270:Ints2
|
UTSW |
11 |
86,215,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5621:Ints2
|
UTSW |
11 |
86,242,947 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5875:Ints2
|
UTSW |
11 |
86,238,312 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5908:Ints2
|
UTSW |
11 |
86,215,545 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5914:Ints2
|
UTSW |
11 |
86,222,174 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5941:Ints2
|
UTSW |
11 |
86,250,972 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5975:Ints2
|
UTSW |
11 |
86,226,748 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6003:Ints2
|
UTSW |
11 |
86,238,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6091:Ints2
|
UTSW |
11 |
86,236,603 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6209:Ints2
|
UTSW |
11 |
86,225,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6567:Ints2
|
UTSW |
11 |
86,226,661 (GRCm38) |
missense |
probably benign |
0.42 |
|
R6764:Ints2
|
UTSW |
11 |
86,212,779 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7132:Ints2
|
UTSW |
11 |
86,217,754 (GRCm38) |
missense |
probably benign |
0.26 |
|
R7337:Ints2
|
UTSW |
11 |
86,217,842 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7410:Ints2
|
UTSW |
11 |
86,233,226 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7483:Ints2
|
UTSW |
11 |
86,215,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7503:Ints2
|
UTSW |
11 |
86,232,055 (GRCm38) |
missense |
probably benign |
|
|
R7804:Ints2
|
UTSW |
11 |
86,212,663 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7845:Ints2
|
UTSW |
11 |
86,238,263 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7875:Ints2
|
UTSW |
11 |
86,213,062 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7918:Ints2
|
UTSW |
11 |
86,222,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7922:Ints2
|
UTSW |
11 |
86,244,627 (GRCm38) |
missense |
probably benign |
0.29 |
|
R8058:Ints2
|
UTSW |
11 |
86,255,353 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8134:Ints2
|
UTSW |
11 |
86,212,660 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8189:Ints2
|
UTSW |
11 |
86,215,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8295:Ints2
|
UTSW |
11 |
86,225,088 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8348:Ints2
|
UTSW |
11 |
86,255,423 (GRCm38) |
missense |
probably benign |
|
|
R8448:Ints2
|
UTSW |
11 |
86,255,423 (GRCm38) |
missense |
probably benign |
|
|
R8784:Ints2
|
UTSW |
11 |
86,225,115 (GRCm38) |
nonsense |
probably null |
|
|
R8784:Ints2
|
UTSW |
11 |
86,222,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8942:Ints2
|
UTSW |
11 |
86,212,894 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9037:Ints2
|
UTSW |
11 |
86,215,704 (GRCm38) |
missense |
probably benign |
|
|
R9154:Ints2
|
UTSW |
11 |
86,234,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9397:Ints2
|
UTSW |
11 |
86,244,485 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9412:Ints2
|
UTSW |
11 |
86,226,763 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9472:Ints2
|
UTSW |
11 |
86,242,998 (GRCm38) |
missense |
|
|
|
R9476:Ints2
|
UTSW |
11 |
86,244,509 (GRCm38) |
missense |
probably benign |
|
|
R9510:Ints2
|
UTSW |
11 |
86,244,509 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGGCTTCAAAACAACTCCTTG -3'
(R):5'- ACTGGATTTACAGACAGCTATGTG -3'
Sequencing Primer
(F):5'- ATGAGTTTGCGACTACCCAG -3'
(R):5'- TACAGACAGCTATGTGAAACTTCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation