Incidental Mutation 'R5206:Ints8'
ID 402024
Institutional Source Beutler Lab
Gene Symbol Ints8
Ensembl Gene ENSMUSG00000040738
Gene Name integrator complex subunit 8
Synonyms 2810013E07Rik, D130008D20Rik
MMRRC Submission 042781-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5206 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 11199158-11254258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11216477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 838 (I838N)
Ref Sequence ENSEMBL: ENSMUSP00000103955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044616] [ENSMUST00000108318] [ENSMUST00000108319]
AlphaFold Q80V86
Predicted Effect possibly damaging
Transcript: ENSMUST00000044616
AA Change: I838N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738
AA Change: I838N

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108318
AA Change: I838N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738
AA Change: I838N

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
SCOP:d1a17__ 826 961 9e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108319
AA Change: I838N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738
AA Change: I838N

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145252
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI

All alleles(14) : Targeted(1) Gene trapped(13)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,272 (GRCm39) E487G probably benign Het
2610021A01Rik A T 7: 41,276,009 (GRCm39) K571* probably null Het
A2m T C 6: 121,651,766 (GRCm39) V1278A probably damaging Het
Abcc2 T C 19: 43,806,589 (GRCm39) V801A probably damaging Het
Acod1 T A 14: 103,292,731 (GRCm39) D418E possibly damaging Het
Bsn G A 9: 107,982,572 (GRCm39) A3727V unknown Het
Cmah T G 13: 24,648,267 (GRCm39) F501V probably damaging Het
Csf2rb2 T A 15: 78,176,952 (GRCm39) I173L probably benign Het
Dnah12 T C 14: 26,491,942 (GRCm39) W1126R probably damaging Het
Dock5 G T 14: 68,000,633 (GRCm39) A1690E probably benign Het
Dop1b T C 16: 93,598,472 (GRCm39) L1879P probably damaging Het
Eif3j2 A T 18: 43,610,647 (GRCm39) D55E probably benign Het
Fam83f G A 15: 80,576,255 (GRCm39) G302D possibly damaging Het
Fus G A 7: 127,568,969 (GRCm39) G40D unknown Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Gxylt2 T C 6: 100,781,576 (GRCm39) V417A probably damaging Het
Hhipl1 G A 12: 108,278,437 (GRCm39) R255H probably damaging Het
Lama5 C A 2: 179,833,097 (GRCm39) C1579F probably damaging Het
Med13 C T 11: 86,210,705 (GRCm39) R479H probably damaging Het
Or51ag1 A T 7: 103,155,309 (GRCm39) Y281* probably null Het
Or5b113 G T 19: 13,342,429 (GRCm39) G146C possibly damaging Het
Or5k15 G T 16: 58,710,381 (GRCm39) N67K probably damaging Het
Or6e1 T A 14: 54,520,155 (GRCm39) M66L probably benign Het
Or9g3 T A 2: 85,589,967 (GRCm39) Y251F probably benign Het
Pak6 A G 2: 118,523,784 (GRCm39) E313G probably benign Het
Pigs T A 11: 78,224,549 (GRCm39) Y145N probably damaging Het
Pla2g2f T A 4: 138,479,662 (GRCm39) D165V probably benign Het
Plbd1 C T 6: 136,618,154 (GRCm39) V133M probably benign Het
Ppp1r14bl C T 1: 23,141,183 (GRCm39) G44R probably benign Het
Ryr3 T C 2: 112,675,056 (GRCm39) Y1352C probably damaging Het
Scamp1 C T 13: 94,368,615 (GRCm39) R51H probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc2a2 G A 3: 28,762,756 (GRCm39) V100M probably damaging Het
Slc38a10 C G 11: 119,995,888 (GRCm39) A1062P probably damaging Het
Snai1 T C 2: 167,380,888 (GRCm39) I127T probably benign Het
Stat4 G A 1: 52,144,395 (GRCm39) G692D probably damaging Het
Stc1 A T 14: 69,269,048 (GRCm39) D72V probably damaging Het
Tmc1 T C 19: 20,804,024 (GRCm39) N351S probably damaging Het
Trim28 A G 7: 12,759,275 (GRCm39) I130V probably benign Het
Trim39 A G 17: 36,571,382 (GRCm39) Y459H probably damaging Het
Ugt1a6b C A 1: 88,035,170 (GRCm39) Y169* probably null Het
Vasp T C 7: 18,992,780 (GRCm39) probably benign Het
Vmn2r99 G T 17: 19,598,868 (GRCm39) G184V probably benign Het
Xrcc1 C T 7: 24,266,988 (GRCm39) T358I probably damaging Het
Zfp219 A G 14: 52,247,022 (GRCm39) V35A probably benign Het
Other mutations in Ints8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Ints8 APN 4 11,218,679 (GRCm39) splice site probably benign
IGL01925:Ints8 APN 4 11,235,617 (GRCm39) splice site probably benign
IGL02195:Ints8 APN 4 11,221,222 (GRCm39) missense probably damaging 1.00
IGL02215:Ints8 APN 4 11,209,244 (GRCm39) missense probably damaging 1.00
IGL02429:Ints8 APN 4 11,231,720 (GRCm39) missense probably damaging 1.00
IGL02484:Ints8 APN 4 11,208,834 (GRCm39) nonsense probably null
IGL02558:Ints8 APN 4 11,218,771 (GRCm39) missense probably damaging 1.00
IGL02725:Ints8 APN 4 11,239,406 (GRCm39) missense probably benign 0.01
IGL02742:Ints8 APN 4 11,241,627 (GRCm39) missense possibly damaging 0.75
IGL02831:Ints8 APN 4 11,245,896 (GRCm39) missense possibly damaging 0.51
IGL03140:Ints8 APN 4 11,235,565 (GRCm39) missense probably damaging 1.00
IGL03171:Ints8 APN 4 11,231,702 (GRCm39) missense probably benign 0.01
IGL03335:Ints8 APN 4 11,216,460 (GRCm39) missense probably damaging 1.00
G1Funyon:Ints8 UTSW 4 11,246,120 (GRCm39) missense probably damaging 1.00
P0026:Ints8 UTSW 4 11,225,788 (GRCm39) nonsense probably null
R0054:Ints8 UTSW 4 11,204,595 (GRCm39) utr 3 prime probably benign
R0063:Ints8 UTSW 4 11,252,857 (GRCm39) missense probably damaging 1.00
R0063:Ints8 UTSW 4 11,252,857 (GRCm39) missense probably damaging 1.00
R0184:Ints8 UTSW 4 11,218,637 (GRCm39) missense probably benign 0.03
R0299:Ints8 UTSW 4 11,246,097 (GRCm39) missense probably benign 0.04
R0499:Ints8 UTSW 4 11,246,097 (GRCm39) missense probably benign 0.04
R0540:Ints8 UTSW 4 11,252,926 (GRCm39) missense possibly damaging 0.94
R0657:Ints8 UTSW 4 11,246,097 (GRCm39) missense probably benign 0.04
R1232:Ints8 UTSW 4 11,234,587 (GRCm39) missense possibly damaging 0.81
R1296:Ints8 UTSW 4 11,221,204 (GRCm39) missense possibly damaging 0.95
R1390:Ints8 UTSW 4 11,239,461 (GRCm39) missense probably benign 0.22
R1503:Ints8 UTSW 4 11,245,842 (GRCm39) missense probably damaging 0.97
R1587:Ints8 UTSW 4 11,245,722 (GRCm39) critical splice donor site probably null
R1701:Ints8 UTSW 4 11,231,656 (GRCm39) missense probably damaging 1.00
R1721:Ints8 UTSW 4 11,241,684 (GRCm39) missense probably damaging 0.97
R1757:Ints8 UTSW 4 11,254,109 (GRCm39) start codon destroyed probably null 0.99
R1777:Ints8 UTSW 4 11,225,600 (GRCm39) critical splice donor site probably null
R1867:Ints8 UTSW 4 11,241,684 (GRCm39) missense probably damaging 0.97
R1868:Ints8 UTSW 4 11,241,684 (GRCm39) missense probably damaging 0.97
R1952:Ints8 UTSW 4 11,221,150 (GRCm39) missense probably benign 0.21
R2084:Ints8 UTSW 4 11,230,377 (GRCm39) missense probably benign 0.31
R2108:Ints8 UTSW 4 11,235,552 (GRCm39) missense probably damaging 0.99
R2202:Ints8 UTSW 4 11,225,712 (GRCm39) missense possibly damaging 0.79
R2203:Ints8 UTSW 4 11,225,712 (GRCm39) missense possibly damaging 0.79
R2205:Ints8 UTSW 4 11,225,712 (GRCm39) missense possibly damaging 0.79
R2439:Ints8 UTSW 4 11,225,725 (GRCm39) missense probably benign 0.29
R2504:Ints8 UTSW 4 11,241,642 (GRCm39) missense probably benign 0.03
R3824:Ints8 UTSW 4 11,225,621 (GRCm39) nonsense probably null
R4664:Ints8 UTSW 4 11,227,152 (GRCm39) missense probably benign 0.04
R4703:Ints8 UTSW 4 11,223,785 (GRCm39) missense possibly damaging 0.92
R4895:Ints8 UTSW 4 11,230,367 (GRCm39) nonsense probably null
R5262:Ints8 UTSW 4 11,211,916 (GRCm39) missense probably damaging 1.00
R5505:Ints8 UTSW 4 11,221,143 (GRCm39) missense probably benign 0.18
R5513:Ints8 UTSW 4 11,248,303 (GRCm39) missense possibly damaging 0.79
R5750:Ints8 UTSW 4 11,241,654 (GRCm39) missense possibly damaging 0.81
R5892:Ints8 UTSW 4 11,223,813 (GRCm39) missense probably damaging 1.00
R6007:Ints8 UTSW 4 11,208,845 (GRCm39) missense possibly damaging 0.70
R6229:Ints8 UTSW 4 11,252,891 (GRCm39) missense probably damaging 1.00
R6466:Ints8 UTSW 4 11,252,878 (GRCm39) missense probably damaging 0.99
R6709:Ints8 UTSW 4 11,221,117 (GRCm39) missense possibly damaging 0.65
R6986:Ints8 UTSW 4 11,204,474 (GRCm39) missense probably damaging 1.00
R6998:Ints8 UTSW 4 11,204,537 (GRCm39) missense possibly damaging 0.80
R7074:Ints8 UTSW 4 11,204,574 (GRCm39) missense possibly damaging 0.82
R7221:Ints8 UTSW 4 11,225,613 (GRCm39) missense probably benign 0.01
R7772:Ints8 UTSW 4 11,227,190 (GRCm39) missense probably damaging 0.97
R7872:Ints8 UTSW 4 11,254,062 (GRCm39) missense probably benign 0.00
R7953:Ints8 UTSW 4 11,227,128 (GRCm39) missense probably benign
R8184:Ints8 UTSW 4 11,204,534 (GRCm39) missense probably damaging 1.00
R8301:Ints8 UTSW 4 11,246,120 (GRCm39) missense probably damaging 1.00
R8708:Ints8 UTSW 4 11,208,824 (GRCm39) critical splice donor site probably null
R8868:Ints8 UTSW 4 11,230,488 (GRCm39) missense probably benign
R9245:Ints8 UTSW 4 11,213,811 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCCACTATTTAAAGGGAGGGGACAC -3'
(R):5'- ATTGAGACCCTGGTTGTGTC -3'

Sequencing Primer
(F):5'- CATGTCAGAGGGCTCACATTGAC -3'
(R):5'- AGACCCTGGTTGTGTCTTTTG -3'
Posted On 2016-07-22