Incidental Mutation 'IGL01285:Ints7'
ID278245
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: 0.957) question?
Stock #IGL01285
Quality Score
Status
Chromosome1
Chromosomal Location191575636-191623688 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 191615778 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 754 (R754H)
Ref Sequence ENSEMBL: ENSMUSP00000036277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045450] [ENSMUST00000194785] [ENSMUST00000194877]
Predicted Effect probably benign
Transcript: ENSMUST00000045450
AA Change: R754H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
AA Change: R754H

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 24,781,594 N599S probably benign Het
Adam6a A T 12: 113,546,273 *755Y probably null Het
Adgrb3 G T 1: 25,093,787 T1166K probably benign Het
Ano1 T C 7: 144,644,742 Y345C probably benign Het
Ano1 A G 7: 144,595,538 V862A probably damaging Het
Asap2 C T 12: 21,229,263 A382V probably damaging Het
Asb18 A G 1: 89,996,241 V100A probably benign Het
Bdnf G A 2: 109,723,586 A102T probably benign Het
Ccser2 G A 14: 36,938,669 T509M probably damaging Het
Des G A 1: 75,362,583 A251T probably benign Het
Dmd C T X: 85,109,984 Q3224* probably null Het
Endog G T 2: 30,171,963 probably null Het
Ggt7 A G 2: 155,500,771 V269A probably damaging Het
Gm17727 A T 9: 35,776,748 N65K possibly damaging Het
Gm7173 A G X: 79,489,158 I767T possibly damaging Het
Gucy2c A G 6: 136,709,741 F808S probably damaging Het
Hira A G 16: 18,912,180 T210A probably benign Het
Ifitm5 C A 7: 140,950,163 R16L probably benign Het
Igdcc4 T C 9: 65,123,991 C404R probably damaging Het
Irf9 A G 14: 55,607,601 E258G probably damaging Het
Megf11 T C 9: 64,660,446 C406R probably damaging Het
Olfml1 A G 7: 107,590,157 N143S possibly damaging Het
Olfr734 A G 14: 50,320,256 F193S possibly damaging Het
Olfr792 T A 10: 129,540,842 F102I probably benign Het
Olfr849 A G 9: 19,440,970 D19G probably benign Het
Otof G T 5: 30,405,183 Q254K probably damaging Het
Plcd3 A G 11: 103,077,870 F332L probably benign Het
Plxnc1 T C 10: 94,799,368 D1332G probably damaging Het
Rnasel A T 1: 153,758,384 D521V probably benign Het
Sema5a T A 15: 32,574,997 V417D possibly damaging Het
Senp6 G A 9: 80,136,718 R877Q probably benign Het
Shroom2 A T X: 152,659,357 D937E probably damaging Het
Slc35a3 A G 3: 116,694,613 S142P probably damaging Het
Srpx A T X: 10,039,059 V398E probably damaging Het
Stk10 A T 11: 32,610,653 K669N possibly damaging Het
Sumf2 A G 5: 129,849,970 D49G probably damaging Het
Syde1 T A 10: 78,588,887 E370D probably damaging Het
Tas2r115 G T 6: 132,737,678 S103R probably damaging Het
Top2a G A 11: 99,006,159 probably benign Het
Ttn T A 2: 76,720,498 T23190S probably damaging Het
Ttyh3 C A 5: 140,629,412 C407F probably damaging Het
Vmn2r27 G T 6: 124,192,411 H587N possibly damaging Het
Vmn2r74 A G 7: 85,957,484 I218T possibly damaging Het
Vsig10 A G 5: 117,324,889 N60S probably benign Het
Zc3h7a A G 16: 11,139,115 S877P probably damaging Het
Zfp979 G T 4: 147,615,396 T29N probably damaging Het
Znfx1 G A 2: 167,038,695 R390C possibly damaging Het
Other mutations in Ints7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Ints7 APN 1 191596164 splice site probably null
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
IGL02059:Ints7 APN 1 191615760 missense probably benign 0.23
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
PIT4810001:Ints7 UTSW 1 191596236 missense probably damaging 0.99
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
R7037:Ints7 UTSW 1 191619605 missense probably benign 0.16
R7163:Ints7 UTSW 1 191617837 missense possibly damaging 0.67
R7603:Ints7 UTSW 1 191596224 missense probably damaging 1.00
R7801:Ints7 UTSW 1 191615747 missense possibly damaging 0.84
R7899:Ints7 UTSW 1 191621315 missense probably damaging 1.00
R8034:Ints7 UTSW 1 191613068 frame shift probably null
R8034:Ints7 UTSW 1 191613071 frame shift probably null
R8231:Ints7 UTSW 1 191596353 nonsense probably null
R8251:Ints7 UTSW 1 191621433 missense unknown
Z1177:Ints7 UTSW 1 191610458 missense probably benign 0.06
Posted On2015-04-16