Incidental Mutation 'IGL03151:Ints9'
ID411100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints9
Ensembl Gene ENSMUSG00000021975
Gene Nameintegrator complex subunit 9
SynonymsD14Ertd231e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03151
Quality Score
Status
Chromosome14
Chromosomal Location64950045-65039832 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 65032340 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 493 (V493E)
Ref Sequence ENSEMBL: ENSMUSP00000045552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043914]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043914
AA Change: V493E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: V493E

DomainStartEndE-ValueType
Pfam:Lactamase_B_6 91 289 1.2e-17 PFAM
Beta-Casp 334 462 7.65e-16 SMART
low complexity region 583 596 N/A INTRINSIC
low complexity region 672 682 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225790
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. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700074P13Rik A G 6: 40,926,012 F142S probably damaging Het
Acot1 G A 12: 84,014,552 A211T probably damaging Het
Ampd1 T C 3: 103,092,470 probably null Het
Armc3 T G 2: 19,238,698 L75R probably damaging Het
Atp9b T C 18: 80,776,850 D573G probably benign Het
Baz1a T A 12: 54,909,149 probably null Het
BC037034 A G 5: 138,262,672 L237S possibly damaging Het
C1ra A T 6: 124,519,771 I389F probably benign Het
Ccdc87 T A 19: 4,841,557 N692K probably benign Het
Ccr9 A G 9: 123,774,573 probably benign Het
Ces4a G T 8: 105,148,197 probably null Het
Dazap1 G A 10: 80,280,920 probably benign Het
Dock5 A G 14: 67,866,067 Y45H probably damaging Het
Eloa A T 4: 136,010,421 Y409* probably null Het
Fam170a A G 18: 50,281,641 E118G probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glra1 C T 11: 55,527,380 V180I probably damaging Het
Il17rb T C 14: 30,006,853 T28A probably benign Het
Kcnq5 C T 1: 21,535,069 C204Y probably damaging Het
Npc1 A T 18: 12,219,275 N122K probably benign Het
Olfr124 G A 17: 37,805,268 G41D probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Prss21 A G 17: 23,869,402 T114A probably damaging Het
Rab10 G A 12: 3,249,812 T193M probably benign Het
Serpini1 T A 3: 75,613,296 S67T probably benign Het
Slc35b1 T C 11: 95,390,386 probably null Het
Sorbs2 A T 8: 45,799,713 H388L probably benign Het
Tfap2c T A 2: 172,557,190 C427* probably null Het
Ttn G T 2: 76,802,388 F14107L probably damaging Het
Upf1 G T 8: 70,335,387 T774K probably damaging Het
Vmn1r170 G A 7: 23,606,577 V135M probably benign Het
Vmn2r14 C T 5: 109,216,394 C552Y probably damaging Het
Zfp367 A G 13: 64,145,631 I147T probably damaging Het
Zfp952 T C 17: 33,003,008 S116P probably benign Het
Other mutations in Ints9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Ints9 APN 14 65037421 missense probably benign 0.00
IGL02374:Ints9 APN 14 65039333 missense probably benign 0.00
IGL02728:Ints9 APN 14 64993008 missense probably damaging 1.00
IGL02992:Ints9 APN 14 64980164 missense probably benign 0.08
R0437:Ints9 UTSW 14 64986369 splice site probably benign
R0582:Ints9 UTSW 14 64980149 missense probably damaging 1.00
R1525:Ints9 UTSW 14 64995011 missense probably benign 0.05
R1569:Ints9 UTSW 14 64980122 missense possibly damaging 0.91
R1835:Ints9 UTSW 14 65032256 missense probably damaging 1.00
R1839:Ints9 UTSW 14 65016530 missense probably damaging 1.00
R1862:Ints9 UTSW 14 65026413 missense probably benign
R1892:Ints9 UTSW 14 65020423 missense probably benign 0.08
R2146:Ints9 UTSW 14 64986343 missense possibly damaging 0.71
R2285:Ints9 UTSW 14 65007997 missense possibly damaging 0.61
R3015:Ints9 UTSW 14 64950278 missense probably benign 0.00
R4133:Ints9 UTSW 14 64990554 missense probably benign
R4180:Ints9 UTSW 14 64992981 missense probably damaging 1.00
R4509:Ints9 UTSW 14 65028932 missense possibly damaging 0.96
R4510:Ints9 UTSW 14 65028932 missense possibly damaging 0.96
R4511:Ints9 UTSW 14 65028932 missense possibly damaging 0.96
R4608:Ints9 UTSW 14 65032280 missense possibly damaging 0.82
R5023:Ints9 UTSW 14 64980228 missense probably damaging 1.00
R5117:Ints9 UTSW 14 64993091 nonsense probably null
R5261:Ints9 UTSW 14 65008072 missense probably benign 0.25
R5582:Ints9 UTSW 14 65028896 missense possibly damaging 0.83
R5990:Ints9 UTSW 14 65039328 missense probably damaging 1.00
R6009:Ints9 UTSW 14 65008082 missense probably benign 0.43
R6241:Ints9 UTSW 14 64980210 missense possibly damaging 0.90
R6351:Ints9 UTSW 14 64993007 missense probably damaging 0.98
R6821:Ints9 UTSW 14 65037458 missense probably benign 0.20
R7422:Ints9 UTSW 14 65032298 missense possibly damaging 0.93
R7442:Ints9 UTSW 14 64995064 nonsense probably null
R7475:Ints9 UTSW 14 65026465 missense probably null 0.23
Z1176:Ints9 UTSW 14 65037454 missense probably benign 0.00
Posted On2016-08-02