Incidental Mutation 'IGL02059:Ints7'
ID185335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints7
Ensembl Gene ENSMUSG00000037461
Gene Nameintegrator complex subunit 7
Synonyms5930412E23Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.945) question?
Stock #IGL02059
Quality Score
Status
Chromosome1
Chromosomal Location191575636-191623688 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 191615760 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 748 (M748K)
Ref Sequence ENSEMBL: ENSMUSP00000036277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045450] [ENSMUST00000194785] [ENSMUST00000194877]
Predicted Effect probably benign
Transcript: ENSMUST00000045450
AA Change: M748K

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
AA Change: M748K

DomainStartEndE-ValueType
SCOP:d1gw5a_ 76 530 1e-10 SMART
low complexity region 937 960 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194785
Predicted Effect probably benign
Transcript: ENSMUST00000194877
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,160,394 probably benign Het
Anks1 A G 17: 28,008,046 M558V possibly damaging Het
Arhgef1 T A 7: 24,912,552 probably benign Het
Atad3a G A 4: 155,754,750 probably benign Het
Bhmt2 A G 13: 93,666,663 Y121H probably benign Het
Cbx5 A G 15: 103,199,765 V151A probably damaging Het
Copa T A 1: 172,099,753 I231N probably damaging Het
Csf3r T A 4: 126,032,127 C168* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah9 A T 11: 66,072,958 I1723N probably damaging Het
Epb42 G A 2: 121,024,707 P466S probably damaging Het
Fem1b C T 9: 62,796,164 V605I possibly damaging Het
Gclc T G 9: 77,787,816 S403A probably damaging Het
Gpr135 A T 12: 72,070,084 V303D possibly damaging Het
Gprin3 C A 6: 59,355,325 probably benign Het
Grik1 T A 16: 88,056,049 Q82L possibly damaging Het
Hacl1 T C 14: 31,632,934 N118D probably benign Het
Hdac9 A G 12: 34,431,968 V146A probably damaging Het
Hltf T C 3: 20,106,457 F763L probably benign Het
Impg2 C T 16: 56,259,972 S713L probably damaging Het
Kalrn A G 16: 34,252,341 S724P possibly damaging Het
Kyat1 T C 2: 30,185,553 Q359R probably benign Het
Mtmr4 A G 11: 87,601,124 N206S possibly damaging Het
Nos3 T C 5: 24,368,998 I227T probably damaging Het
Olfr589 T C 7: 103,155,103 I215V probably benign Het
Pde1a A T 2: 79,897,077 H169Q possibly damaging Het
Ppp1r13b A T 12: 111,833,347 D665E probably damaging Het
Prickle4 G T 17: 47,690,249 L131M probably damaging Het
Prl6a1 T A 13: 27,315,365 Y39N probably benign Het
Slco6d1 T C 1: 98,446,806 V350A possibly damaging Het
Srsf7 T A 17: 80,202,692 S209C probably null Het
Syde2 C T 3: 146,002,172 A622V possibly damaging Het
Ugt1a6a T A 1: 88,138,681 S70T possibly damaging Het
Vmn2r39 T C 7: 9,023,644 I453V probably benign Het
Zc3h7a A G 16: 11,160,998 probably benign Het
Zeb1 G T 18: 5,766,892 V468F probably damaging Het
Zfp148 T A 16: 33,496,563 V493D probably damaging Het
Other mutations in Ints7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Ints7 APN 1 191596164 splice site probably null
IGL01285:Ints7 APN 1 191615778 missense probably benign 0.00
IGL01289:Ints7 APN 1 191615778 missense probably benign 0.00
IGL01572:Ints7 APN 1 191615793 missense possibly damaging 0.71
IGL01665:Ints7 APN 1 191613219 splice site probably benign
IGL02684:Ints7 APN 1 191613637 critical splice acceptor site probably null
IGL02686:Ints7 APN 1 191586592 missense probably damaging 1.00
IGL02812:Ints7 APN 1 191619741 missense probably damaging 1.00
IGL03119:Ints7 APN 1 191610365 missense probably damaging 1.00
IGL03162:Ints7 APN 1 191621412 utr 3 prime probably benign
R0294:Ints7 UTSW 1 191611891 missense possibly damaging 0.91
R0479:Ints7 UTSW 1 191614554 intron probably null
R0698:Ints7 UTSW 1 191594464 missense probably damaging 0.97
R1420:Ints7 UTSW 1 191613057 missense possibly damaging 0.73
R1680:Ints7 UTSW 1 191621162 splice site probably null
R1781:Ints7 UTSW 1 191596284 missense possibly damaging 0.95
R2141:Ints7 UTSW 1 191604860 missense possibly damaging 0.73
R2291:Ints7 UTSW 1 191606203 synonymous probably null
R4718:Ints7 UTSW 1 191583277 missense possibly damaging 0.60
R4741:Ints7 UTSW 1 191619635 missense probably benign 0.29
R4797:Ints7 UTSW 1 191596933 missense probably damaging 1.00
R4812:Ints7 UTSW 1 191594430 missense possibly damaging 0.73
R4826:Ints7 UTSW 1 191611906 missense probably damaging 0.97
R4870:Ints7 UTSW 1 191596331 missense probably damaging 0.97
R5169:Ints7 UTSW 1 191613090 missense probably benign 0.00
R5281:Ints7 UTSW 1 191615771 missense possibly damaging 0.90
R5694:Ints7 UTSW 1 191586618 missense probably damaging 1.00
R5752:Ints7 UTSW 1 191575893 missense probably benign 0.00
R6048:Ints7 UTSW 1 191621412 utr 3 prime probably benign
R6341:Ints7 UTSW 1 191613127 missense probably damaging 1.00
R6419:Ints7 UTSW 1 191602302 missense possibly damaging 0.69
Posted On2014-05-07