Incidental Mutation 'IGL02812:Ints7'
ID360614
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 #IGL02812
Quality Score
Status
Chromosome1
Chromosomal Location191575636-191623688 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 191619741 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 854 (V854A)
Ref Sequence ENSEMBL: ENSMUSP00000036277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045450] [ENSMUST00000194785] [ENSMUST00000194877]
Predicted Effect probably damaging
Transcript: ENSMUST00000045450
AA Change: V854A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
AA Change: V854A

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik A G 16: 92,320,728 I224T probably damaging Het
Abca7 G T 10: 80,006,047 V1005L possibly damaging Het
Abcc9 A G 6: 142,697,790 S11P possibly damaging Het
Acsl1 A T 8: 46,492,836 E2V possibly damaging Het
AI314180 T A 4: 58,864,343 probably benign Het
Aox3 G A 1: 58,165,896 V757I probably benign Het
Aqp4 T C 18: 15,397,575 probably null Het
Arhgef7 A G 8: 11,781,245 probably benign Het
Armc9 T A 1: 86,244,571 D2E probably damaging Het
Celsr2 G A 3: 108,414,113 P461L probably benign Het
Cep170 T C 1: 176,742,514 D1339G probably damaging Het
Clk1 T A 1: 58,414,476 N317I probably damaging Het
Comp G A 8: 70,376,687 G305S possibly damaging Het
Depdc5 G A 5: 32,893,368 probably benign Het
Dse T C 10: 34,183,716 E131G probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Epha2 A G 4: 141,318,919 probably benign Het
Fmnl1 A G 11: 103,196,766 probably benign Het
Gbp9 T C 5: 105,083,758 N321D probably damaging Het
Gm5884 A G 6: 128,645,775 noncoding transcript Het
Gp2 A T 7: 119,452,229 N254K probably benign Het
Hgh1 T A 15: 76,369,554 probably null Het
Inpp5f A G 7: 128,682,306 N543S probably damaging Het
Itgb1bp1 T G 12: 21,270,878 probably benign Het
Lrrtm4 A T 6: 80,021,964 N120Y probably damaging Het
Map3k5 T C 10: 20,025,036 S319P probably damaging Het
Mc4r A G 18: 66,859,247 L265S probably damaging Het
Morc1 T C 16: 48,558,506 probably benign Het
Mre11a T A 9: 14,790,670 probably null Het
Msh4 T C 3: 153,901,400 probably benign Het
Mterf4 A G 1: 93,304,733 L132P probably damaging Het
Myo15 A T 11: 60,477,179 E255V probably benign Het
Myot T C 18: 44,346,060 V288A probably damaging Het
Nipa2 T C 7: 55,943,018 Y53C probably damaging Het
Npas1 T A 7: 16,456,116 I502F probably damaging Het
Olfr1389 T A 11: 49,430,922 W149R probably damaging Het
Olfr536 C T 7: 140,503,620 V280M probably damaging Het
Osbp2 A G 11: 3,714,637 V565A probably benign Het
Otof A G 5: 30,374,082 S1666P probably benign Het
Per3 A C 4: 151,024,470 S476A probably damaging Het
Pja2 T C 17: 64,297,794 N465D probably damaging Het
Pla2g4c T C 7: 13,348,365 F512S probably damaging Het
Plcd4 T A 1: 74,557,808 L403Q probably damaging Het
Psg26 T C 7: 18,475,155 T443A probably benign Het
Snapc4 T A 2: 26,369,372 T589S probably benign Het
Spag8 G A 4: 43,651,755 R404W probably damaging Het
Tdrd7 A G 4: 45,994,406 D268G probably benign Het
Tfap2d A G 1: 19,142,927 H325R possibly damaging Het
Vmn1r59 C T 7: 5,454,177 V195I probably damaging Het
Vmn1r67 G A 7: 10,447,018 E70K probably benign Het
Wdr18 T A 10: 79,961,064 N91K possibly damaging Het
Zbtb7b T C 3: 89,379,774 T463A 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
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
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 On2015-12-18