Incidental Mutation 'IGL02992:Ints9'
ID 406968
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 # IGL02992
Quality Score
Status
Chromosome 14
Chromosomal Location 64950045-65039832 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64980164 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 47 (K47E)
Ref Sequence ENSEMBL: ENSMUSP00000045552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043914]
AlphaFold Q8K114
Predicted Effect probably benign
Transcript: ENSMUST00000043914
AA Change: K47E

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: K47E

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: ENSMUST00000224593
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,719,464 (GRCm38) L684M possibly damaging Het
Abca4 A G 3: 122,128,286 (GRCm38) K1164E probably damaging Het
Arhgap42 G A 9: 8,998,248 (GRCm38) probably benign Het
Arhgef12 T C 9: 42,999,077 (GRCm38) D612G probably damaging Het
Cpne3 T C 4: 19,532,486 (GRCm38) D309G probably benign Het
Daw1 T C 1: 83,197,213 (GRCm38) probably benign Het
Daxx T A 17: 33,911,748 (GRCm38) C246S probably damaging Het
Dpp7 T C 2: 25,354,577 (GRCm38) D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 (GRCm38) H1472L probably benign Het
Fastkd2 T C 1: 63,737,924 (GRCm38) probably benign Het
Fcrls T G 3: 87,259,466 (GRCm38) R73S probably damaging Het
Gatb A G 3: 85,618,916 (GRCm38) D367G probably damaging Het
Gm20547 T A 17: 34,857,119 (GRCm38) E654V probably damaging Het
Gm839 T A 6: 89,212,527 (GRCm38) noncoding transcript Het
Gtf2ird2 A T 5: 134,217,614 (GRCm38) M905L possibly damaging Het
Hoxb2 A T 11: 96,353,084 (GRCm38) I174F probably damaging Het
Hrh3 A G 2: 180,100,815 (GRCm38) V308A probably benign Het
Irak3 A T 10: 120,182,661 (GRCm38) Y61N probably damaging Het
Itpr1 A G 6: 108,381,315 (GRCm38) E614G probably damaging Het
Lgals3 A T 14: 47,385,525 (GRCm38) I214L probably benign Het
Msh4 G T 3: 153,872,325 (GRCm38) T444K possibly damaging Het
Myh7b C A 2: 155,621,410 (GRCm38) Q521K probably damaging Het
Naip5 T A 13: 100,223,028 (GRCm38) I567F probably damaging Het
Nf1 A G 11: 79,434,933 (GRCm38) probably benign Het
Nlrc3 C T 16: 3,954,023 (GRCm38) probably benign Het
Nlrc5 A C 8: 94,506,573 (GRCm38) E1353A possibly damaging Het
Nr1h3 T A 2: 91,190,566 (GRCm38) I260F probably damaging Het
Pcnx G A 12: 81,964,120 (GRCm38) R1211Q probably damaging Het
Pde10a A G 17: 8,949,461 (GRCm38) K605E probably damaging Het
Pdzd2 T C 15: 12,382,622 (GRCm38) E1215G possibly damaging Het
Pex12 A G 11: 83,297,927 (GRCm38) S81P probably damaging Het
Pik3c2b C A 1: 133,066,980 (GRCm38) Y227* probably null Het
Ppef2 C T 5: 92,235,900 (GRCm38) W450* probably null Het
Prkg2 T G 5: 99,024,506 (GRCm38) S117R probably benign Het
Prl3d2 A T 13: 27,127,283 (GRCm38) E179D probably benign Het
Rxfp2 T C 5: 150,051,556 (GRCm38) V210A probably benign Het
Scn10a T C 9: 119,609,560 (GRCm38) T1748A possibly damaging Het
Sept10 T C 10: 59,192,178 (GRCm38) N107S possibly damaging Het
Smu1 T A 4: 40,739,550 (GRCm38) N420I probably damaging Het
Sos1 A G 17: 80,419,016 (GRCm38) F835L probably benign Het
Spg11 T C 2: 122,058,398 (GRCm38) D2164G probably damaging Het
Svbp A G 4: 119,195,930 (GRCm38) E8G probably damaging Het
Tgm3 T A 2: 130,041,979 (GRCm38) M519K probably damaging Het
Tspan12 A G 6: 21,799,877 (GRCm38) probably null Het
Vps52 T C 17: 33,958,350 (GRCm38) V122A probably damaging Het
Wipf1 T C 2: 73,434,083 (GRCm38) Y458C probably damaging Het
Zfp369 T A 13: 65,294,451 (GRCm38) D286E possibly damaging Het
Other mutations in Ints9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Ints9 APN 14 65,037,421 (GRCm38) missense probably benign 0.00
IGL02374:Ints9 APN 14 65,039,333 (GRCm38) missense probably benign 0.00
IGL02728:Ints9 APN 14 64,993,008 (GRCm38) missense probably damaging 1.00
IGL03151:Ints9 APN 14 65,032,340 (GRCm38) missense possibly damaging 0.86
R0437:Ints9 UTSW 14 64,986,369 (GRCm38) splice site probably benign
R0582:Ints9 UTSW 14 64,980,149 (GRCm38) missense probably damaging 1.00
R1525:Ints9 UTSW 14 64,995,011 (GRCm38) missense probably benign 0.05
R1569:Ints9 UTSW 14 64,980,122 (GRCm38) missense possibly damaging 0.91
R1835:Ints9 UTSW 14 65,032,256 (GRCm38) missense probably damaging 1.00
R1839:Ints9 UTSW 14 65,016,530 (GRCm38) missense probably damaging 1.00
R1862:Ints9 UTSW 14 65,026,413 (GRCm38) missense probably benign
R1892:Ints9 UTSW 14 65,020,423 (GRCm38) missense probably benign 0.08
R2146:Ints9 UTSW 14 64,986,343 (GRCm38) missense possibly damaging 0.71
R2285:Ints9 UTSW 14 65,007,997 (GRCm38) missense possibly damaging 0.61
R3015:Ints9 UTSW 14 64,950,278 (GRCm38) missense probably benign 0.00
R4133:Ints9 UTSW 14 64,990,554 (GRCm38) missense probably benign
R4180:Ints9 UTSW 14 64,992,981 (GRCm38) missense probably damaging 1.00
R4509:Ints9 UTSW 14 65,028,932 (GRCm38) missense possibly damaging 0.96
R4510:Ints9 UTSW 14 65,028,932 (GRCm38) missense possibly damaging 0.96
R4511:Ints9 UTSW 14 65,028,932 (GRCm38) missense possibly damaging 0.96
R4608:Ints9 UTSW 14 65,032,280 (GRCm38) missense possibly damaging 0.82
R5023:Ints9 UTSW 14 64,980,228 (GRCm38) missense probably damaging 1.00
R5117:Ints9 UTSW 14 64,993,091 (GRCm38) nonsense probably null
R5261:Ints9 UTSW 14 65,008,072 (GRCm38) missense probably benign 0.25
R5582:Ints9 UTSW 14 65,028,896 (GRCm38) missense possibly damaging 0.83
R5990:Ints9 UTSW 14 65,039,328 (GRCm38) missense probably damaging 1.00
R6009:Ints9 UTSW 14 65,008,082 (GRCm38) missense probably benign 0.43
R6241:Ints9 UTSW 14 64,980,210 (GRCm38) missense possibly damaging 0.90
R6351:Ints9 UTSW 14 64,993,007 (GRCm38) missense probably damaging 0.98
R6821:Ints9 UTSW 14 65,037,458 (GRCm38) missense probably benign 0.20
R7422:Ints9 UTSW 14 65,032,298 (GRCm38) missense possibly damaging 0.93
R7442:Ints9 UTSW 14 64,995,064 (GRCm38) nonsense probably null
R7475:Ints9 UTSW 14 65,026,465 (GRCm38) missense probably null 0.23
R8183:Ints9 UTSW 14 65,036,453 (GRCm38) missense probably damaging 0.98
R8223:Ints9 UTSW 14 65,020,360 (GRCm38) missense possibly damaging 0.94
R8282:Ints9 UTSW 14 65,007,308 (GRCm38) missense probably benign 0.00
R8314:Ints9 UTSW 14 65,029,030 (GRCm38) missense probably damaging 1.00
R8341:Ints9 UTSW 14 65,036,414 (GRCm38) missense probably benign 0.14
R8548:Ints9 UTSW 14 65,032,321 (GRCm38) missense probably benign 0.39
R9356:Ints9 UTSW 14 65,032,321 (GRCm38) missense probably benign 0.39
R9434:Ints9 UTSW 14 65,008,057 (GRCm38) missense probably benign 0.00
Z1176:Ints9 UTSW 14 65,037,454 (GRCm38) missense probably benign 0.00
Posted On 2016-08-02