Incidental Mutation 'IGL02374:Ints9'
ID 291035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints9
Ensembl Gene ENSMUSG00000021975
Gene Name integrator complex subunit 9
Synonyms D14Ertd231e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02374
Quality Score
Status
Chromosome 14
Chromosomal Location 65187494-65277284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65276782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 650 (E650K)
Ref Sequence ENSEMBL: ENSMUSP00000045552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043914]
AlphaFold Q8K114
Predicted Effect probably benign
Transcript: ENSMUST00000043914
AA Change: E650K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: E650K

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,073,003 (GRCm39) Y35H probably damaging Het
Cnksr3 A G 10: 7,070,335 (GRCm39) S300P probably damaging Het
Col27a1 T C 4: 63,211,486 (GRCm39) S1013P possibly damaging Het
Cyp39a1 A G 17: 44,060,872 (GRCm39) probably benign Het
Deptor G T 15: 55,044,357 (GRCm39) L174F probably damaging Het
Fah T C 7: 84,254,909 (GRCm39) E8G probably benign Het
Fastk C A 5: 24,649,247 (GRCm39) A47S possibly damaging Het
Foxl2 C T 9: 98,837,885 (GRCm39) L58F probably damaging Het
Gm57858 T C 3: 36,074,108 (GRCm39) Q347R possibly damaging Het
Igf2bp2 G T 16: 21,900,618 (GRCm39) H106Q probably benign Het
Igkv12-47 T C 6: 69,727,959 (GRCm39) T71A probably benign Het
Ino80d T C 1: 63,125,220 (GRCm39) I81V possibly damaging Het
Klc2 T C 19: 5,160,438 (GRCm39) N408S possibly damaging Het
Klhl32 A T 4: 24,743,856 (GRCm39) probably null Het
Ksr1 C T 11: 78,919,317 (GRCm39) G504D probably benign Het
Lonp2 C A 8: 87,435,673 (GRCm39) D636E probably damaging Het
Lpin3 G A 2: 160,737,758 (GRCm39) probably benign Het
Mcmdc2 C T 1: 9,982,207 (GRCm39) A56V possibly damaging Het
Or10al7 A T 17: 38,366,412 (GRCm39) V24D probably damaging Het
Or4p8 A T 2: 88,727,803 (GRCm39) I46N probably damaging Het
Pex1 T C 5: 3,685,481 (GRCm39) I1163T probably benign Het
Ppp1r3a C T 6: 14,718,599 (GRCm39) V772I probably damaging Het
Ptbp2 A T 3: 119,514,342 (GRCm39) probably benign Het
Rell1 A T 5: 64,095,151 (GRCm39) I105K possibly damaging Het
Sis A T 3: 72,832,789 (GRCm39) S1003T probably benign Het
Slc26a3 T A 12: 31,520,832 (GRCm39) probably benign Het
Stap1 G A 5: 86,244,410 (GRCm39) G264R probably damaging Het
Tmem176b T C 6: 48,811,560 (GRCm39) N30D possibly damaging Het
Tmprss15 A T 16: 78,832,056 (GRCm39) Y367N probably benign Het
Ttc41 A G 10: 86,611,815 (GRCm39) D1061G probably damaging Het
Ufl1 A C 4: 25,259,237 (GRCm39) D460E probably benign Het
Vmn2r104 T C 17: 20,263,048 (GRCm39) I138V probably benign Het
Wdfy2 T C 14: 63,171,833 (GRCm39) S194P probably benign Het
Zfp408 A C 2: 91,476,156 (GRCm39) C333G probably damaging Het
Zfp592 T C 7: 80,674,731 (GRCm39) V565A probably damaging Het
Other mutations in Ints9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Ints9 APN 14 65,274,870 (GRCm39) missense probably benign 0.00
IGL02728:Ints9 APN 14 65,230,457 (GRCm39) missense probably damaging 1.00
IGL02992:Ints9 APN 14 65,217,613 (GRCm39) missense probably benign 0.08
IGL03151:Ints9 APN 14 65,269,789 (GRCm39) missense possibly damaging 0.86
R0437:Ints9 UTSW 14 65,223,818 (GRCm39) splice site probably benign
R0582:Ints9 UTSW 14 65,217,598 (GRCm39) missense probably damaging 1.00
R1525:Ints9 UTSW 14 65,232,460 (GRCm39) missense probably benign 0.05
R1569:Ints9 UTSW 14 65,217,571 (GRCm39) missense possibly damaging 0.91
R1835:Ints9 UTSW 14 65,269,705 (GRCm39) missense probably damaging 1.00
R1839:Ints9 UTSW 14 65,253,979 (GRCm39) missense probably damaging 1.00
R1862:Ints9 UTSW 14 65,263,862 (GRCm39) missense probably benign
R1892:Ints9 UTSW 14 65,257,872 (GRCm39) missense probably benign 0.08
R2146:Ints9 UTSW 14 65,223,792 (GRCm39) missense possibly damaging 0.71
R2285:Ints9 UTSW 14 65,245,446 (GRCm39) missense possibly damaging 0.61
R3015:Ints9 UTSW 14 65,187,727 (GRCm39) missense probably benign 0.00
R4133:Ints9 UTSW 14 65,228,003 (GRCm39) missense probably benign
R4180:Ints9 UTSW 14 65,230,430 (GRCm39) missense probably damaging 1.00
R4509:Ints9 UTSW 14 65,266,381 (GRCm39) missense possibly damaging 0.96
R4510:Ints9 UTSW 14 65,266,381 (GRCm39) missense possibly damaging 0.96
R4511:Ints9 UTSW 14 65,266,381 (GRCm39) missense possibly damaging 0.96
R4608:Ints9 UTSW 14 65,269,729 (GRCm39) missense possibly damaging 0.82
R5023:Ints9 UTSW 14 65,217,677 (GRCm39) missense probably damaging 1.00
R5117:Ints9 UTSW 14 65,230,540 (GRCm39) nonsense probably null
R5261:Ints9 UTSW 14 65,245,521 (GRCm39) missense probably benign 0.25
R5582:Ints9 UTSW 14 65,266,345 (GRCm39) missense possibly damaging 0.83
R5990:Ints9 UTSW 14 65,276,777 (GRCm39) missense probably damaging 1.00
R6009:Ints9 UTSW 14 65,245,531 (GRCm39) missense probably benign 0.43
R6241:Ints9 UTSW 14 65,217,659 (GRCm39) missense possibly damaging 0.90
R6351:Ints9 UTSW 14 65,230,456 (GRCm39) missense probably damaging 0.98
R6821:Ints9 UTSW 14 65,274,907 (GRCm39) missense probably benign 0.20
R7422:Ints9 UTSW 14 65,269,747 (GRCm39) missense possibly damaging 0.93
R7442:Ints9 UTSW 14 65,232,513 (GRCm39) nonsense probably null
R7475:Ints9 UTSW 14 65,263,914 (GRCm39) missense probably null 0.23
R8183:Ints9 UTSW 14 65,273,902 (GRCm39) missense probably damaging 0.98
R8223:Ints9 UTSW 14 65,257,809 (GRCm39) missense possibly damaging 0.94
R8282:Ints9 UTSW 14 65,244,757 (GRCm39) missense probably benign 0.00
R8314:Ints9 UTSW 14 65,266,479 (GRCm39) missense probably damaging 1.00
R8341:Ints9 UTSW 14 65,273,863 (GRCm39) missense probably benign 0.14
R8548:Ints9 UTSW 14 65,269,770 (GRCm39) missense probably benign 0.39
R9356:Ints9 UTSW 14 65,269,770 (GRCm39) missense probably benign 0.39
R9434:Ints9 UTSW 14 65,245,506 (GRCm39) missense probably benign 0.00
Z1176:Ints9 UTSW 14 65,274,903 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16