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 |
86101507-86148401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86123911 bp (GRCm39)
|
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: 41,819,374 (GRCm39) |
Y105C |
probably damaging |
Het |
Acr |
T |
C |
15: 89,453,703 (GRCm39) |
S81P |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,129,178 (GRCm39) |
|
probably null |
Het |
Ank2 |
C |
A |
3: 126,738,499 (GRCm39) |
E2375* |
probably null |
Het |
Avpi1 |
A |
G |
19: 42,113,416 (GRCm39) |
W14R |
probably damaging |
Het |
Brd4 |
A |
G |
17: 32,417,989 (GRCm39) |
V55A |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,639,392 (GRCm39) |
N149D |
probably damaging |
Het |
Ccl25 |
A |
T |
8: 4,399,641 (GRCm39) |
|
probably benign |
Het |
Celf5 |
A |
G |
10: 81,298,548 (GRCm39) |
L299P |
probably damaging |
Het |
Cfap418 |
A |
G |
4: 10,898,014 (GRCm39) |
T199A |
probably benign |
Het |
Cfap57 |
T |
G |
4: 118,470,323 (GRCm39) |
T186P |
possibly damaging |
Het |
Chrm4 |
A |
G |
2: 91,758,692 (GRCm39) |
M367V |
probably benign |
Het |
Col1a2 |
A |
T |
6: 4,516,904 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
G |
A |
16: 59,374,528 (GRCm39) |
P2242L |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,795,358 (GRCm39) |
V1031A |
probably damaging |
Het |
Dbnl |
C |
A |
11: 5,748,102 (GRCm39) |
P313T |
probably benign |
Het |
Dnah1 |
A |
G |
14: 30,986,882 (GRCm39) |
F3637L |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,518,820 (GRCm39) |
I2979N |
probably damaging |
Het |
Dusp10 |
T |
C |
1: 183,769,802 (GRCm39) |
V256A |
possibly damaging |
Het |
Dync2i1 |
T |
C |
12: 116,175,511 (GRCm39) |
M889V |
probably benign |
Het |
Erlin2 |
T |
C |
8: 27,521,792 (GRCm39) |
V164A |
probably benign |
Het |
Fam110a |
T |
C |
2: 151,812,131 (GRCm39) |
D213G |
probably damaging |
Het |
Fkbp1a |
T |
C |
2: 151,399,420 (GRCm39) |
|
probably null |
Het |
Foxg1 |
G |
A |
12: 49,431,503 (GRCm39) |
|
probably benign |
Het |
Gm12185 |
T |
C |
11: 48,806,826 (GRCm39) |
S122G |
probably benign |
Het |
Gm2042 |
A |
T |
12: 87,927,051 (GRCm39) |
D456V |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,900,036 (GRCm39) |
Y282H |
probably damaging |
Het |
Gys2 |
T |
C |
6: 142,418,448 (GRCm39) |
D27G |
probably benign |
Het |
H2-DMa |
T |
A |
17: 34,355,971 (GRCm39) |
|
probably null |
Het |
Hectd4 |
T |
A |
5: 121,502,631 (GRCm39) |
I4245N |
possibly damaging |
Het |
Incenp |
A |
G |
19: 9,870,736 (GRCm39) |
Y298H |
unknown |
Het |
Kifc1 |
A |
T |
17: 34,102,671 (GRCm39) |
V314E |
probably damaging |
Het |
Lurap1l |
C |
T |
4: 80,829,604 (GRCm39) |
P5S |
probably benign |
Het |
Mtmr11 |
A |
G |
3: 96,077,262 (GRCm39) |
Y540C |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,576,698 (GRCm39) |
|
probably benign |
Het |
Myh13 |
A |
G |
11: 67,260,142 (GRCm39) |
E1860G |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nbeal1 |
G |
A |
1: 60,350,106 (GRCm39) |
G2385D |
probably damaging |
Het |
Ncaph2 |
G |
A |
15: 89,255,559 (GRCm39) |
A578T |
probably benign |
Het |
Ncr1 |
T |
C |
7: 4,341,144 (GRCm39) |
V8A |
possibly damaging |
Het |
Nutm1 |
T |
C |
2: 112,086,513 (GRCm39) |
T73A |
probably damaging |
Het |
Olfm1 |
G |
A |
2: 28,119,348 (GRCm39) |
D313N |
probably damaging |
Het |
Or11h4 |
A |
G |
14: 50,974,164 (GRCm39) |
F152L |
possibly damaging |
Het |
Or13f5 |
A |
G |
4: 52,826,089 (GRCm39) |
M231V |
probably benign |
Het |
Or4a66 |
T |
A |
2: 88,531,164 (GRCm39) |
N170Y |
probably damaging |
Het |
Otog |
T |
A |
7: 45,916,822 (GRCm39) |
|
probably null |
Het |
Peak1 |
G |
T |
9: 56,166,991 (GRCm39) |
D312E |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,890,251 (GRCm39) |
I331T |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,957,562 (GRCm39) |
V539A |
possibly damaging |
Het |
Polr2a |
A |
T |
11: 69,638,039 (GRCm39) |
H143Q |
possibly damaging |
Het |
Ppargc1b |
G |
T |
18: 61,440,785 (GRCm39) |
A711D |
probably damaging |
Het |
Prnd |
T |
A |
2: 131,795,362 (GRCm39) |
C161S |
possibly damaging |
Het |
Prrt4 |
A |
G |
6: 29,171,147 (GRCm39) |
L435P |
possibly damaging |
Het |
Psen2 |
C |
T |
1: 180,055,085 (GRCm39) |
|
probably null |
Het |
Psg23 |
T |
C |
7: 18,348,669 (GRCm39) |
E46G |
possibly damaging |
Het |
Rasgef1b |
C |
T |
5: 99,380,195 (GRCm39) |
R350H |
probably damaging |
Het |
Rfxank |
G |
C |
8: 70,590,820 (GRCm39) |
P16A |
probably benign |
Het |
Sema6a |
A |
G |
18: 47,381,637 (GRCm39) |
I944T |
probably damaging |
Het |
Serpinc1 |
A |
G |
1: 160,825,091 (GRCm39) |
T313A |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,694,283 (GRCm39) |
S36P |
possibly damaging |
Het |
Slc36a1 |
C |
A |
11: 55,114,563 (GRCm39) |
R214S |
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,942,279 (GRCm39) |
S982N |
possibly damaging |
Het |
Speer1k |
G |
T |
5: 11,000,518 (GRCm39) |
|
probably null |
Het |
Syt1 |
A |
C |
10: 108,526,797 (GRCm39) |
D37E |
probably benign |
Het |
Tcl1b5 |
A |
T |
12: 105,142,750 (GRCm39) |
D26V |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,544,430 (GRCm39) |
K2149* |
probably null |
Het |
Ubc |
T |
A |
5: 125,465,238 (GRCm39) |
I30F |
probably damaging |
Het |
Ugt1a7c |
A |
T |
1: 88,023,250 (GRCm39) |
E136D |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r159 |
C |
T |
7: 22,542,289 (GRCm39) |
V248I |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,428,874 (GRCm39) |
H734R |
probably damaging |
Het |
Xrcc2 |
T |
G |
5: 25,897,707 (GRCm39) |
I81L |
possibly damaging |
Het |
Zfat |
A |
C |
15: 68,052,864 (GRCm39) |
I310S |
probably damaging |
Het |
Zfp119a |
A |
G |
17: 56,173,009 (GRCm39) |
V278A |
probably benign |
Het |
Zfp53 |
A |
G |
17: 21,720,508 (GRCm39) |
K33E |
probably benign |
Het |
Zfp866 |
G |
T |
8: 70,218,491 (GRCm39) |
H376Q |
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 |
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 |
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'- AGGAGGCTTCAAAACAACTCCTTG -3'
(R):5'- ACTGGATTTACAGACAGCTATGTG -3'
Sequencing Primer
(F):5'- ATGAGTTTGCGACTACCCAG -3'
(R):5'- TACAGACAGCTATGTGAAACTTCC -3'
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Posted On |
2019-05-13 |