Incidental Mutation 'IGL02612:Ints2'
ID300523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints2
Ensembl Gene ENSMUSG00000018068
Gene Nameintegrator complex subunit 2
Synonyms2810417D08Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #IGL02612
Quality Score
Status
Chromosome11
Chromosomal Location86210681-86257575 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86215578 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 1002 (D1002G)
Ref Sequence ENSEMBL: ENSMUSP00000103674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018212] [ENSMUST00000108039]
Predicted Effect probably damaging
Transcript: ENSMUST00000018212
AA Change: D1002G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: D1002G

DomainStartEndE-ValueType
Pfam:INTS2 24 1131 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108039
AA Change: D1002G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: D1002G

DomainStartEndE-ValueType
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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,678,012 M1432L probably benign Het
Alg11 A G 8: 22,061,983 R48G probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Bmp4 T A 14: 46,384,481 D202V probably damaging Het
Car12 T G 9: 66,762,424 L300R probably damaging Het
Cdc37l1 T A 19: 29,016,102 *336R probably null Het
Cep89 A G 7: 35,424,655 probably null Het
Ces3b T A 8: 105,085,269 D103E possibly damaging Het
Chd5 A G 4: 152,360,576 D338G probably damaging Het
Crot A G 5: 8,969,945 C466R probably damaging Het
Dach2 T C X: 113,750,404 M194T probably benign Het
Dmrtc1b A G X: 102,713,267 D100G probably benign Het
Epm2a G A 10: 11,457,236 R271H probably damaging Het
Fem1c G T 18: 46,505,714 T407K probably benign Het
Fer1l4 T C 2: 156,047,928 Y273C probably damaging Het
Foxc2 C A 8: 121,117,837 A408E probably benign Het
Gbp10 A T 5: 105,218,502 M512K possibly damaging Het
Gm17677 T C 9: 35,742,164 I88T possibly damaging Het
Gm21671 A C 5: 25,951,616 Y122D probably benign Het
Gm5134 T C 10: 75,992,489 L301P probably damaging Het
Grk3 A T 5: 112,969,234 D100E probably benign Het
Gsdma3 T A 11: 98,635,881 D322E probably damaging Het
Gucy1a2 C A 9: 3,894,556 L680I possibly damaging Het
Ighv7-2 T C 12: 113,912,146 Y79C probably damaging Het
Igkv4-50 T C 6: 69,701,040 T27A probably benign Het
Map4k5 T A 12: 69,849,584 I169F possibly damaging Het
Mink1 T C 11: 70,597,226 V39A probably damaging Het
Mms22l T A 4: 24,508,482 H301Q probably benign Het
Myh4 C T 11: 67,256,479 T1650I probably benign Het
Olfr658 A T 7: 104,644,663 D234E probably benign Het
Olfr884 T A 9: 38,047,366 L48Q probably damaging Het
Olfr907 T C 9: 38,499,473 M268T probably benign Het
Pbxip1 C T 3: 89,443,681 T117M probably damaging Het
Pgghg C T 7: 140,946,338 T572M probably damaging Het
Phactr2 G A 10: 13,245,423 T511I probably damaging Het
Pip5k1a T C 3: 95,067,413 I385V probably benign Het
Pwp2 A G 10: 78,182,994 C60R probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rttn G T 18: 88,973,626 D110Y probably damaging Het
Setbp1 G T 18: 78,755,710 H1418Q probably damaging Het
Sf3b3 T C 8: 110,842,976 I37V probably benign Het
Slc27a6 A T 18: 58,556,905 I148F probably benign Het
Slmap A G 14: 26,459,466 probably benign Het
Stil A G 4: 115,023,696 Q479R possibly damaging Het
Svop A G 5: 114,028,260 *549Q probably null Het
Tnks C T 8: 34,849,299 V889I possibly damaging Het
Tnrc6c T A 11: 117,743,000 V1308E possibly damaging Het
Vmn1r208 C A 13: 22,772,823 C168F probably damaging Het
Vmn2r117 A T 17: 23,459,784 M822K possibly damaging Het
Vwa8 A G 14: 79,183,112 N1751S probably benign Het
Vwde A T 6: 13,187,149 F780I probably damaging Het
Washc2 T C 6: 116,220,616 I184T possibly damaging Het
Wdr26 A T 1: 181,177,796 probably benign Het
Zfp608 G A 18: 54,898,201 T889M probably damaging Het
Zfp955a G T 17: 33,244,065 Q31K probably damaging Het
Zpbp2 T C 11: 98,555,517 L145S probably benign Het
Other mutations in Ints2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Ints2 APN 11 86233135 missense probably damaging 1.00
IGL02490:Ints2 APN 11 86233183 missense possibly damaging 0.93
IGL03396:Ints2 APN 11 86213062 missense probably damaging 0.99
R0015:Ints2 UTSW 11 86249287 missense probably damaging 1.00
R0015:Ints2 UTSW 11 86249287 missense probably damaging 1.00
R0355:Ints2 UTSW 11 86234749 missense probably benign 0.00
R0389:Ints2 UTSW 11 86248851 missense probably damaging 1.00
R0631:Ints2 UTSW 11 86233196 missense probably benign 0.02
R0944:Ints2 UTSW 11 86244463 missense possibly damaging 0.85
R1268:Ints2 UTSW 11 86233085 missense probably damaging 1.00
R1269:Ints2 UTSW 11 86233085 missense probably damaging 1.00
R1270:Ints2 UTSW 11 86233085 missense probably damaging 1.00
R1396:Ints2 UTSW 11 86249248 missense probably damaging 0.98
R1474:Ints2 UTSW 11 86226781 missense probably damaging 0.97
R1503:Ints2 UTSW 11 86226781 missense probably damaging 0.97
R1840:Ints2 UTSW 11 86233085 missense probably damaging 1.00
R1987:Ints2 UTSW 11 86217800 missense probably benign 0.03
R1990:Ints2 UTSW 11 86248934 missense possibly damaging 0.58
R1991:Ints2 UTSW 11 86248934 missense possibly damaging 0.58
R3694:Ints2 UTSW 11 86243001 missense probably benign 0.41
R4056:Ints2 UTSW 11 86242952 missense probably damaging 1.00
R4057:Ints2 UTSW 11 86242952 missense probably damaging 1.00
R4569:Ints2 UTSW 11 86256198 missense probably damaging 1.00
R4585:Ints2 UTSW 11 86249275 missense probably damaging 1.00
R4586:Ints2 UTSW 11 86249275 missense probably damaging 1.00
R4806:Ints2 UTSW 11 86256209 missense probably benign 0.10
R4929:Ints2 UTSW 11 86212653 missense possibly damaging 0.56
R5031:Ints2 UTSW 11 86256200 missense probably damaging 1.00
R5064:Ints2 UTSW 11 86249274 missense probably damaging 1.00
R5270:Ints2 UTSW 11 86215795 missense probably damaging 1.00
R5621:Ints2 UTSW 11 86242947 missense probably benign 0.32
R5875:Ints2 UTSW 11 86238312 missense probably benign 0.04
R5908:Ints2 UTSW 11 86215545 critical splice donor site probably null
R5914:Ints2 UTSW 11 86222174 missense probably benign 0.03
R5941:Ints2 UTSW 11 86250972 missense probably benign 0.01
R5975:Ints2 UTSW 11 86226748 missense possibly damaging 0.72
R6003:Ints2 UTSW 11 86238468 missense probably damaging 1.00
R6091:Ints2 UTSW 11 86236603 missense probably damaging 0.96
R6209:Ints2 UTSW 11 86225058 missense probably damaging 1.00
R6567:Ints2 UTSW 11 86226661 missense probably benign 0.42
R6764:Ints2 UTSW 11 86212779 missense probably benign 0.00
R7033:Ints2 UTSW 11 86233085 missense probably damaging 1.00
R7132:Ints2 UTSW 11 86217754 missense probably benign 0.26
Posted On2015-04-16