Incidental Mutation 'IGL02661:Ints4'
ID302562
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: 0.958) question?
Stock #IGL02661
Quality Score
Status
Chromosome7
Chromosomal Location97480956-97541395 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 97495705 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 175 (L175I)
Ref Sequence ENSEMBL: ENSMUSP00000026126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026126]
Predicted Effect probably benign
Transcript: ENSMUST00000026126
AA Change: L175I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: L175I

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: ENSMUST00000205481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206644
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik G T 18: 52,660,494 W33L probably damaging Het
Adam34 A T 8: 43,651,535 C358S probably damaging Het
Ak5 C A 3: 152,463,956 V561F probably benign Het
Ap1s1 T C 5: 137,037,473 D158G probably benign Het
Bard1 A G 1: 71,075,310 S171P probably damaging Het
Bsn A C 9: 108,106,936 Y534* probably null Het
Clcn4 A T 7: 7,291,731 probably null Het
Cyp2j7 T C 4: 96,236,650 T4A probably benign Het
Dnajc10 T A 2: 80,326,740 probably benign Het
Dtl G T 1: 191,541,371 T475N probably benign Het
Eif3m T C 2: 105,004,969 Y120C probably damaging Het
Gab1 A G 8: 80,788,937 S251P probably damaging Het
Gba T A 3: 89,203,527 V14E probably benign Het
Ggcx C T 6: 72,418,360 P145S possibly damaging Het
Gm13889 G A 2: 93,956,679 T150I probably benign Het
Gm4978 C A 9: 69,450,898 probably benign Het
Herc2 A G 7: 56,113,073 D850G probably damaging Het
Hspa1l A G 17: 34,977,275 I97V probably benign Het
Ighv1-4 T G 12: 114,487,230 K86T probably damaging Het
Kif13b T G 14: 64,767,691 V1144G probably benign Het
Kpna3 T A 14: 61,372,949 probably benign Het
Man2c1 A G 9: 57,137,482 D371G probably damaging Het
Mtf1 T C 4: 124,825,109 L305P probably damaging Het
Myo15b T G 11: 115,884,069 V2139G probably benign Het
Nalcn T C 14: 123,592,909 probably benign Het
Neurod2 T C 11: 98,327,579 Q253R possibly damaging Het
Nfkbil1 C A 17: 35,220,671 A289S probably benign Het
Olfr1277 T A 2: 111,269,466 R300S possibly damaging Het
Paxbp1 A T 16: 91,030,525 I474K probably benign Het
Pde6c A T 19: 38,180,800 I798F probably damaging Het
Pon3 T A 6: 5,256,205 T8S probably benign Het
Prkdc A G 16: 15,769,825 T2525A possibly damaging Het
Rnase10 T G 14: 51,009,816 V180G probably damaging Het
Rreb1 T A 13: 37,930,802 C712* probably null Het
Scamp2 T C 9: 57,587,414 probably benign Het
Serpina3i A T 12: 104,265,256 K51* probably null Het
Smyd4 C A 11: 75,390,941 C413* probably null Het
Spata2 C T 2: 167,483,361 V513M probably damaging Het
Sri T A 5: 8,063,252 probably benign Het
Urah A T 7: 140,837,705 K119M probably damaging Het
Wdr19 C T 5: 65,245,808 T1005I probably benign 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
IGL02396:Ints4 APN 7 97537900 missense possibly damaging 0.64
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
Posted On2015-04-16