Incidental Mutation 'IGL02396:Ints4'
ID294329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints4
Ensembl Gene ENSMUSG00000025133
Gene Nameintegrator complex subunit 4
Synonyms2610034N24Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL02396
Quality Score
Status
Chromosome7
Chromosomal Location97480956-97541395 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 97537900 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 866 (V866I)
Ref Sequence ENSEMBL: ENSMUSP00000026126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026126]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026126
AA Change: V866I

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: V866I

DomainStartEndE-ValueType
Pfam:HEAT_2 153 258 9.8e-9 PFAM
Pfam:Cohesin_HEAT 179 219 7.7e-6 PFAM
low complexity region 518 527 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206843
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS4 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,644,799 probably benign Het
Bmp3 C A 5: 98,872,719 Q334K possibly damaging Het
Bnc2 G T 4: 84,276,009 S1026R probably benign Het
Bsn C T 9: 108,116,046 G836S possibly damaging Het
Cand2 A G 6: 115,791,188 probably benign Het
Ccdc24 T C 4: 117,869,629 T296A possibly damaging Het
Ccdc38 A G 10: 93,574,132 N271S possibly damaging Het
Ccdc81 T G 7: 89,881,649 I362L probably benign Het
Cdhr3 T A 12: 33,045,196 I625F possibly damaging Het
Col12a1 T A 9: 79,662,583 R1568S probably benign Het
Cpeb4 T A 11: 31,925,441 S547T probably benign Het
Dennd4c T A 4: 86,825,000 N1075K probably damaging Het
Esrra C A 19: 6,912,005 V339L probably benign Het
Ghr A T 15: 3,457,998 M1K probably null Het
Gm4987 T A X: 46,456,114 noncoding transcript Het
Gm5096 A G 18: 87,756,656 E101G possibly damaging Het
Golga2 G T 2: 32,298,644 probably benign Het
Gys1 T A 7: 45,439,588 I137N probably damaging Het
Hs3st5 A T 10: 36,828,703 M1L probably benign Het
Hsd3b5 T A 3: 98,622,027 T96S probably benign Het
Ighv6-3 T C 12: 114,391,736 D111G probably damaging Het
Immp1l T A 2: 105,937,006 I70N probably damaging Het
Large2 G T 2: 92,366,323 Y529* probably null Het
Maf1 C A 15: 76,353,257 Y166* probably null Het
Manba T A 3: 135,544,764 M384K probably damaging Het
Mapk4 C A 18: 73,933,997 probably null Het
Mc5r T C 18: 68,339,466 S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 N1404K probably damaging Het
Milr1 C A 11: 106,765,239 Y212* probably null Het
Ncor2 A G 5: 125,037,914 S1115P probably damaging Het
Olfr1122 A T 2: 87,387,705 probably benign Het
Olfr1314 C A 2: 112,092,467 C78F probably benign Het
Osbpl7 T G 11: 97,055,551 L158R probably damaging Het
Psmd4 A T 3: 95,035,910 L61Q probably damaging Het
Rassf9 A T 10: 102,545,693 N310I possibly damaging Het
Rpl21-ps6 A G 17: 55,915,400 noncoding transcript Het
Slc31a2 T C 4: 62,297,073 I119T probably damaging Het
Srgap2 C A 1: 131,292,675 C187F probably damaging Het
Tekt5 C A 16: 10,379,067 A307S probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttn A G 2: 76,945,088 V1916A unknown Het
Wee1 T G 7: 110,142,093 V641G probably damaging Het
Zfand6 G A 7: 84,617,903 P157L probably damaging Het
Other mutations in Ints4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Ints4 APN 7 97535205 missense probably damaging 1.00
IGL01736:Ints4 APN 7 97526642 missense probably benign 0.01
IGL01862:Ints4 APN 7 97541153 missense probably damaging 1.00
IGL02277:Ints4 APN 7 97487458 missense probably damaging 1.00
IGL02661:Ints4 APN 7 97495705 missense probably benign
IGL02750:Ints4 APN 7 97517757 critical splice donor site probably null
IGL03108:Ints4 APN 7 97490930 critical splice acceptor site probably null
R0332:Ints4 UTSW 7 97517718 missense probably damaging 1.00
R0449:Ints4 UTSW 7 97529223 missense probably damaging 0.97
R1065:Ints4 UTSW 7 97507892 critical splice donor site probably null
R1722:Ints4 UTSW 7 97513579 missense probably benign 0.24
R2060:Ints4 UTSW 7 97501763 missense possibly damaging 0.93
R2211:Ints4 UTSW 7 97509750 missense possibly damaging 0.63
R3731:Ints4 UTSW 7 97506101 missense probably benign 0.18
R3881:Ints4 UTSW 7 97516257 missense possibly damaging 0.94
R4089:Ints4 UTSW 7 97529255 nonsense probably null
R4192:Ints4 UTSW 7 97507733 missense probably damaging 1.00
R4479:Ints4 UTSW 7 97484971 missense probably damaging 1.00
R4980:Ints4 UTSW 7 97501850 critical splice donor site probably null
R5029:Ints4 UTSW 7 97509774 missense probably benign 0.06
R5306:Ints4 UTSW 7 97509678 missense probably damaging 1.00
R6160:Ints4 UTSW 7 97509583 splice site probably null
R6317:Ints4 UTSW 7 97529218 nonsense probably null
R6961:Ints4 UTSW 7 97541190 makesense probably null
R7026:Ints4 UTSW 7 97519154 missense possibly damaging 0.50
R7156:Ints4 UTSW 7 97535286 critical splice donor site probably null
R7205:Ints4 UTSW 7 97535226 nonsense probably null
R7234:Ints4 UTSW 7 97530300 missense probably benign 0.00
R7418:Ints4 UTSW 7 97490972 missense probably benign 0.03
R7423:Ints4 UTSW 7 97507719 missense probably damaging 1.00
R7462:Ints4 UTSW 7 97506128 missense probably benign 0.11
R7658:Ints4 UTSW 7 97529253 missense possibly damaging 0.90
R7947:Ints4 UTSW 7 97499585 missense probably benign
R8114:Ints4 UTSW 7 97516525 splice site probably null
R8426:Ints4 UTSW 7 97501032 nonsense probably null
R8765:Ints4 UTSW 7 97501809 missense possibly damaging 0.70
R8777:Ints4 UTSW 7 97485020 missense probably damaging 1.00
R8777-TAIL:Ints4 UTSW 7 97485020 missense probably damaging 1.00
Posted On2015-04-16