Incidental Mutation 'IGL02264:Ints5'
ID286841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints5
Ensembl Gene ENSMUSG00000116347
Gene Name
Synonyms1110055N21Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.292) question?
Stock #IGL02264
Quality Score
Status
Chromosome19
Chromosomal Location8888926-8895227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8895712 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 345 (V345A)
Ref Sequence ENSEMBL: ENSMUSP00000093968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096246] [ENSMUST00000096249] [ENSMUST00000096251] [ENSMUST00000187504] [ENSMUST00000191089]
Predicted Effect probably benign
Transcript: ENSMUST00000096246
SMART Domains Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 157 169 N/A INTRINSIC
Pfam:Gal_mutarotas_2 275 346 3.9e-24 PFAM
Pfam:Glyco_hydro_31 387 832 8.7e-136 PFAM
low complexity region 888 898 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096249
AA Change: V345A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000093968
Gene: ENSMUSG00000071652
AA Change: V345A

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
Pfam:INTS5_N 29 252 1e-82 PFAM
low complexity region 254 267 N/A INTRINSIC
Pfam:INTS5_C 289 998 2.2e-249 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096251
SMART Domains Protein: ENSMUSP00000093970
Gene: ENSMUSG00000071653

DomainStartEndE-ValueType
low complexity region 15 37 N/A INTRINSIC
low complexity region 99 112 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186647
Predicted Effect probably benign
Transcript: ENSMUST00000187504
SMART Domains Protein: ENSMUSP00000139692
Gene: ENSMUSG00000096740

DomainStartEndE-ValueType
Pfam:Lbh 1 101 2.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190843
Predicted Effect probably benign
Transcript: ENSMUST00000191089
SMART Domains Protein: ENSMUSP00000140564
Gene: ENSMUSG00000116347

DomainStartEndE-ValueType
low complexity region 15 37 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Integrator complex is a complex that associates with the C-terminal domain of RNA polymerase II large subunit. This complex is brought to U1 and U2 small nuclear RNA genes, where it is involved in the transcription and processing of their transcripts. The protein encoded by this gene represents a subunit of the Integrator complex. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,542,369 probably null Het
Abhd17b T C 19: 21,678,432 L26P probably damaging Het
Abtb1 A G 6: 88,836,535 V407A probably benign Het
Adamts17 C A 7: 67,047,459 probably null Het
Arhgap21 G T 2: 20,860,039 probably null Het
Brwd1 T C 16: 96,019,456 D1290G probably damaging Het
Btbd6 A G 12: 112,976,969 T49A probably damaging Het
Carmil1 C T 13: 24,075,716 V702I possibly damaging Het
Cts8 T A 13: 61,250,958 I245F probably damaging Het
D230025D16Rik C T 8: 105,234,546 A71V possibly damaging Het
Dclre1a T A 19: 56,544,293 N623I possibly damaging Het
Dnah9 A T 11: 66,080,488 probably benign Het
Emc1 T C 4: 139,375,464 F978S probably damaging Het
Fam185a G A 5: 21,480,394 V363I possibly damaging Het
Iglc2 G T 16: 19,198,647 S69R probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Lrba A G 3: 86,780,262 R2825G probably damaging Het
Map1a A G 2: 121,307,313 E2870G probably damaging Het
Olfr1233 G T 2: 89,339,684 T206K probably benign Het
Olfr1287 A G 2: 111,449,862 T241A probably benign Het
Olfr259 C T 2: 87,107,441 probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcsk1 C A 13: 75,105,959 T210K probably damaging Het
Slco5a1 A G 1: 12,871,995 V809A probably benign Het
Synm T C 7: 67,734,396 T1173A probably damaging Het
Tbc1d9b T C 11: 50,149,757 I367T probably damaging Het
Tmem169 T A 1: 72,300,955 Y181* probably null Het
Trp73 G T 4: 154,064,428 F289L probably null Het
Ttll9 A G 2: 153,000,135 Y303C probably damaging Het
Ubr4 G T 4: 139,455,628 E3577* probably null Het
Zbtb3 T G 19: 8,803,365 V114G probably damaging Het
Other mutations in Ints5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Ints5 APN 19 8895487 missense possibly damaging 0.93
IGL01915:Ints5 APN 19 8896993 missense probably benign
IGL01993:Ints5 APN 19 8895465 missense probably benign
IGL02367:Ints5 APN 19 8895595 missense probably benign 0.06
IGL02955:Ints5 APN 19 8897650 missense probably damaging 1.00
FR4449:Ints5 UTSW 19 8897230 missense probably benign 0.10
R0348:Ints5 UTSW 19 8895750 missense probably damaging 0.97
R0379:Ints5 UTSW 19 8897133 missense possibly damaging 0.90
R0617:Ints5 UTSW 19 8896019 missense probably damaging 1.00
R1954:Ints5 UTSW 19 8894896 missense probably damaging 1.00
R2172:Ints5 UTSW 19 8896282 missense possibly damaging 0.73
R2370:Ints5 UTSW 19 8896779 missense probably benign
R3116:Ints5 UTSW 19 8894772 missense possibly damaging 0.84
R4395:Ints5 UTSW 19 8896444 missense probably damaging 0.96
R5390:Ints5 UTSW 19 8896567 missense possibly damaging 0.73
R6868:Ints5 UTSW 19 8897386 missense probably damaging 1.00
R7133:Ints5 UTSW 19 8895559 missense probably damaging 1.00
X0066:Ints5 UTSW 19 8896231 missense probably damaging 1.00
Posted On2015-04-16