Incidental Mutation 'R1701:Ints8'
ID 189707
Institutional Source Beutler Lab
Gene Symbol Ints8
Ensembl Gene ENSMUSG00000040738
Gene Name integrator complex subunit 8
Synonyms 2810013E07Rik, D130008D20Rik
MMRRC Submission 039734-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1701 (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 G at 11231656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 443 (L443P)
Ref Sequence ENSEMBL: ENSMUSP00000103955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044616] [ENSMUST00000108318] [ENSMUST00000108319]
AlphaFold Q80V86
Predicted Effect probably damaging
Transcript: ENSMUST00000044616
AA Change: L443P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738
AA Change: L443P

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108318
AA Change: L443P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738
AA Change: L443P

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 probably damaging
Transcript: ENSMUST00000108319
AA Change: L443P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738
AA Change: L443P

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147372
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,142 (GRCm39) L53P probably damaging Het
Acadsb T A 7: 131,026,213 (GRCm39) F19I probably benign Het
Aldh3a2 C T 11: 61,147,598 (GRCm39) G303S probably damaging Het
Anks1b T C 10: 89,885,816 (GRCm39) Y171H probably damaging Het
Anxa7 A T 14: 20,510,229 (GRCm39) I385N probably damaging Het
Astn1 A T 1: 158,331,877 (GRCm39) T324S possibly damaging Het
Ccdc88a T C 11: 29,427,427 (GRCm39) V235A possibly damaging Het
Crhr2 T C 6: 55,076,255 (GRCm39) K258R probably damaging Het
Ctnnd1 T C 2: 84,439,335 (GRCm39) E786G probably damaging Het
Ctnnd2 G A 15: 30,922,127 (GRCm39) D918N probably damaging Het
Dnah9 A G 11: 65,802,750 (GRCm39) S200P probably damaging Het
Dot1l T C 10: 80,626,576 (GRCm39) S1266P possibly damaging Het
Efemp1 A G 11: 28,871,750 (GRCm39) T422A possibly damaging Het
Fam135b T C 15: 71,331,578 (GRCm39) H1137R probably damaging Het
Flot2 C T 11: 77,940,373 (GRCm39) S40L possibly damaging Het
Fras1 G A 5: 96,748,643 (GRCm39) S706N probably benign Het
Gbf1 T C 19: 46,250,114 (GRCm39) L357P probably damaging Het
Gpatch2l A G 12: 86,335,726 (GRCm39) S476G probably benign Het
Hbb-bh2 T C 7: 103,489,450 (GRCm39) T34A probably benign Het
Intu T A 3: 40,618,694 (GRCm39) D233E probably damaging Het
Itprid2 A G 2: 79,466,394 (GRCm39) K75E probably damaging Het
Kctd1 T A 18: 15,102,617 (GRCm39) I259L possibly damaging Het
Lama5 A G 2: 179,863,162 (GRCm39) C108R probably damaging Het
Lgals3bp T C 11: 118,284,781 (GRCm39) Y266C probably damaging Het
Lrig2 T C 3: 104,401,993 (GRCm39) I111V probably benign Het
Mtcl2 T C 2: 156,872,539 (GRCm39) N936S probably damaging Het
Myh8 G T 11: 67,170,964 (GRCm39) C125F probably damaging Het
Or2d3c C A 7: 106,526,129 (GRCm39) C179F probably damaging Het
Or2h2 C T 17: 37,396,623 (GRCm39) V145M probably benign Het
Or51a10 T C 7: 103,699,402 (GRCm39) E53G possibly damaging Het
Or5ac21 T C 16: 59,123,651 (GRCm39) I46T probably benign Het
Or5p76 T G 7: 108,122,731 (GRCm39) Q142P probably benign Het
Or5w16 T A 2: 87,576,894 (GRCm39) M118K probably damaging Het
Or6c202 T C 10: 128,995,974 (GRCm39) Q293R probably damaging Het
Or8g4 A T 9: 39,662,365 (GRCm39) I228F probably damaging Het
Pate8 A G 9: 36,493,114 (GRCm39) probably benign Het
Phc2 C T 4: 128,645,400 (GRCm39) P836S probably damaging Het
Pla2g7 T C 17: 43,911,415 (GRCm39) F189S probably damaging Het
Ptprk A G 10: 28,342,054 (GRCm39) D487G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Robo4 G T 9: 37,314,739 (GRCm39) V198L probably benign Het
Selenbp1 C A 3: 94,844,701 (GRCm39) H119Q probably damaging Het
Slc25a13 T C 6: 6,152,525 (GRCm39) probably null Het
Slc35f5 A G 1: 125,498,330 (GRCm39) E176G possibly damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Tenm4 G A 7: 96,552,096 (GRCm39) V2512M probably damaging Het
Tmc8 A G 11: 117,682,188 (GRCm39) probably null Het
Trim30d C T 7: 104,133,389 (GRCm39) W21* probably null Het
Ube3c G A 5: 29,806,200 (GRCm39) V281I probably benign Het
Usp17ld T C 7: 102,899,783 (GRCm39) K383R probably benign Het
Vmn1r172 A T 7: 23,359,529 (GRCm39) Y138F probably damaging Het
Vmn1r180 T C 7: 23,652,395 (GRCm39) V186A possibly damaging Het
Vmn2r25 T A 6: 123,828,754 (GRCm39) probably null Het
Vmn2r61 T C 7: 41,949,935 (GRCm39) F785S probably damaging Het
Zfp141 T A 7: 42,125,470 (GRCm39) Y334F probably benign Het
Zfp609 T C 9: 65,638,282 (GRCm39) I317V probably benign Het
Zfp879 A G 11: 50,724,060 (GRCm39) I259T possibly damaging 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
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
R5206:Ints8 UTSW 4 11,216,477 (GRCm39) missense possibly damaging 0.65
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'- GCTGCTAAGTTGAATTCCCAGAGCCTA -3'
(R):5'- TGAAAATGGTTGGTCCCACTTCTTTCT -3'

Sequencing Primer
(F):5'- attcccagagcctacatgatac -3'
(R):5'- ccagcactcaatgtcagcc -3'
Posted On 2014-05-14