Incidental Mutation 'IGL02490:Ints2'
ID 295607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints2
Ensembl Gene ENSMUSG00000018068
Gene Name integrator complex subunit 2
Synonyms 2810417D08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02490
Quality Score
Status
Chromosome 11
Chromosomal Location 86101507-86148401 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86124009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 593 (I593K)
Ref Sequence ENSEMBL: ENSMUSP00000103674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018212] [ENSMUST00000108039]
AlphaFold Q80UK8
Predicted Effect possibly damaging
Transcript: ENSMUST00000018212
AA Change: I593K

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: I593K

DomainStartEndE-ValueType
Pfam:INTS2 24 1131 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108039
AA Change: I593K

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: I593K

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,078,559 (GRCm39) noncoding transcript Het
Adam5 A T 8: 25,271,720 (GRCm39) Y562* probably null Het
Akr1d1 T C 6: 37,535,423 (GRCm39) V269A probably damaging Het
Anks4b A G 7: 119,773,241 (GRCm39) T34A probably damaging Het
Arhgef40 A G 14: 52,226,652 (GRCm39) N232S probably damaging Het
Cdc40 C T 10: 40,717,767 (GRCm39) V379I probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh13 A G 8: 119,822,062 (GRCm39) D307G probably damaging Het
Ces1h A G 8: 94,083,627 (GRCm39) probably null Het
Chchd6 T A 6: 89,361,656 (GRCm39) H249L possibly damaging Het
Clxn T A 16: 14,734,810 (GRCm39) V60E probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Cwc15 A T 9: 14,413,320 (GRCm39) D34V probably damaging Het
Cyp2c39 T C 19: 39,527,446 (GRCm39) I264T probably damaging Het
Dapk1 A G 13: 60,897,148 (GRCm39) D789G probably damaging Het
Dcdc2a T A 13: 25,291,635 (GRCm39) Y207N probably damaging Het
Flt3 T A 5: 147,268,106 (GRCm39) N960Y probably damaging Het
Fmn1 C T 2: 113,359,817 (GRCm39) probably benign Het
Foxm1 T A 6: 128,350,314 (GRCm39) C400* probably null Het
Ftmt A C 18: 52,464,760 (GRCm39) R25S probably benign Het
Guca1b T C 17: 47,700,190 (GRCm39) probably benign Het
Hectd4 A T 5: 121,456,676 (GRCm39) K680N possibly damaging Het
Hephl1 C A 9: 14,964,981 (GRCm39) R1138L probably benign Het
Il1rl2 T A 1: 40,395,972 (GRCm39) probably benign Het
Iqcg T A 16: 32,855,937 (GRCm39) K213* probably null Het
Kif1b T A 4: 149,288,665 (GRCm39) S1259C probably benign Het
Klc1 C T 12: 111,748,210 (GRCm39) T371M possibly damaging Het
Loxl4 T C 19: 42,593,269 (GRCm39) T301A probably benign Het
Lrrc40 T C 3: 157,768,336 (GRCm39) L497P probably damaging Het
Masp2 C T 4: 148,692,400 (GRCm39) R298W possibly damaging Het
Myo5a A T 9: 75,043,737 (GRCm39) Y242F probably damaging Het
Nup98 A G 7: 101,801,573 (GRCm39) V784A probably damaging Het
Or5w15 T C 2: 87,568,299 (GRCm39) Y123C probably damaging Het
Osbpl1a G T 18: 13,015,341 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,334,922 (GRCm39) Y412C probably damaging Het
Pfkfb2 T A 1: 130,628,589 (GRCm39) Y339F probably damaging Het
Plcb2 T C 2: 118,550,241 (GRCm39) N172D probably damaging Het
Plec T C 15: 76,073,463 (GRCm39) Y517C probably damaging Het
Plod2 G T 9: 92,468,895 (GRCm39) A207S probably benign Het
Plxdc1 A T 11: 97,845,604 (GRCm39) D229E probably benign Het
Ppp3cb A G 14: 20,581,726 (GRCm39) probably null Het
Procr T C 2: 155,595,352 (GRCm39) L52P probably damaging Het
Psme2b G T 11: 48,836,946 (GRCm39) probably benign Het
Rgs22 G A 15: 36,054,993 (GRCm39) A727V probably damaging Het
Rock2 T A 12: 16,998,564 (GRCm39) W277R probably damaging Het
Rpl26 A G 11: 68,795,216 (GRCm39) D112G probably damaging Het
Rxfp1 C A 3: 79,559,474 (GRCm39) probably null Het
Sdr39u1 G A 14: 56,135,798 (GRCm39) P98L probably damaging Het
Sgms1 T C 19: 32,137,543 (GRCm39) K8E probably damaging Het
Stk31 T C 6: 49,394,469 (GRCm39) V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,797,588 (GRCm39) E79A probably benign Het
Ttll6 A T 11: 96,047,546 (GRCm39) D715V possibly damaging Het
Ush2a T C 1: 188,542,561 (GRCm39) S3376P probably damaging Het
Vmn2r109 T A 17: 20,761,246 (GRCm39) T704S possibly damaging Het
Zfp27 T A 7: 29,594,360 (GRCm39) H535L possibly damaging Het
Zfp609 A T 9: 65,611,250 (GRCm39) V571D possibly damaging Het
Zfp874a A T 13: 67,590,819 (GRCm39) Y288* probably null Het
Zfp993 T C 4: 146,742,074 (GRCm39) S133P probably damaging Het
Other mutations in Ints2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Ints2 APN 11 86,123,961 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2015-04-16