Incidental Mutation 'R0540:Ints8'
ID 49790
Institutional Source Beutler Lab
Gene Symbol Ints8
Ensembl Gene ENSMUSG00000040738
Gene Name integrator complex subunit 8
Synonyms 2810013E07Rik, D130008D20Rik
MMRRC Submission 038732-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R0540 (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 11252926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 52 (V52A)
Ref Sequence ENSEMBL: ENSMUSP00000103954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044616] [ENSMUST00000108318] [ENSMUST00000108319]
AlphaFold Q80V86
Predicted Effect probably benign
Transcript: ENSMUST00000044616
AA Change: V52A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738
AA Change: V52A

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: V52A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738
AA Change: V52A

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 benign
Transcript: ENSMUST00000108319
AA Change: V52A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738
AA Change: V52A

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.7%
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,926,627 (GRCm39) T199A possibly damaging Het
Als2cl C A 9: 110,724,852 (GRCm39) Y775* probably null Het
Ankhd1 G T 18: 36,773,333 (GRCm39) V59F probably damaging Het
Ano4 T A 10: 88,859,806 (GRCm39) I395F probably benign Het
Apcdd1 A G 18: 63,084,967 (GRCm39) N388S possibly damaging Het
Arl9 A G 5: 77,155,118 (GRCm39) Y83C possibly damaging Het
Armc2 T A 10: 41,798,691 (GRCm39) H706L probably benign Het
Arrb1 T C 7: 99,237,403 (GRCm39) probably null Het
Atxn1 G A 13: 45,711,006 (GRCm39) S642L probably damaging Het
Bmp8a A G 4: 123,209,723 (GRCm39) Y322H probably damaging Het
Btbd3 C T 2: 138,125,736 (GRCm39) R307W possibly damaging Het
C1galt1 T C 6: 7,871,193 (GRCm39) I343T probably benign Het
Capn2 A T 1: 182,319,749 (GRCm39) Y146* probably null Het
Ccdc42 C T 11: 68,488,536 (GRCm39) Q312* probably null Het
Cd209e T C 8: 3,901,265 (GRCm39) K130E probably benign Het
Chd3 T C 11: 69,235,184 (GRCm39) D2054G probably damaging Het
Chrna1 T C 2: 73,401,815 (GRCm39) N161S probably damaging Het
Clp1 C T 2: 84,555,935 (GRCm39) A182T possibly damaging Het
Cpsf7 G T 19: 10,510,682 (GRCm39) E135* probably null Het
Csf2rb2 T C 15: 78,172,108 (GRCm39) Y325C probably benign Het
Cspg5 T C 9: 110,076,460 (GRCm39) probably null Het
Ctnna2 T C 6: 76,879,413 (GRCm39) T824A probably benign Het
Cyp2b13 G A 7: 25,781,136 (GRCm39) V183I probably benign Het
D430041D05Rik C T 2: 104,063,790 (GRCm39) R1354H probably damaging Het
Ddx24 A G 12: 103,385,326 (GRCm39) Y426H possibly damaging Het
Dexi G T 16: 10,360,426 (GRCm39) Y43* probably null Het
Dlg1 G A 16: 31,656,992 (GRCm39) V596I possibly damaging Het
Dnah11 A C 12: 118,046,246 (GRCm39) W1731G probably damaging Het
Dnhd1 T A 7: 105,369,995 (GRCm39) N4473K probably benign Het
Dync2h1 A C 9: 7,051,480 (GRCm39) S3152A probably benign Het
Edn3 C A 2: 174,602,767 (GRCm39) P3Q probably damaging Het
Eif2a G A 3: 58,463,073 (GRCm39) probably null Het
Emb G A 13: 117,369,286 (GRCm39) V56I possibly damaging Het
Enpp4 A T 17: 44,410,386 (GRCm39) C397S probably damaging Het
Exo5 A G 4: 120,779,178 (GRCm39) V229A probably damaging Het
Fga G A 3: 82,935,869 (GRCm39) G32E probably damaging Het
Fkbpl T C 17: 34,864,333 (GRCm39) F34L probably benign Het
Fsd2 T A 7: 81,194,765 (GRCm39) D466V probably damaging Het
Gcn1 T C 5: 115,727,015 (GRCm39) V624A probably benign Het
Git2 A G 5: 114,886,335 (GRCm39) F336L probably damaging Het
Greb1 T A 12: 16,732,194 (GRCm39) Y1589F probably damaging Het
H2-K2 G T 17: 34,218,474 (GRCm39) D127E probably damaging Het
Kifc1 G A 17: 34,105,621 (GRCm39) T62I probably damaging Het
Klhl6 C A 16: 19,775,764 (GRCm39) D265Y possibly damaging Het
Kmt5a T A 5: 124,589,373 (GRCm39) N190K probably damaging Het
Lce6a A T 3: 92,527,635 (GRCm39) H57Q probably benign Het
Lipo3 A T 19: 33,536,967 (GRCm39) I251K possibly damaging Het
Lnpep A T 17: 17,758,816 (GRCm39) F843I probably damaging Het
Lrrc45 C T 11: 120,605,988 (GRCm39) R99* probably null Het
Lrrtm1 C A 6: 77,221,611 (GRCm39) A356E probably damaging Het
Map3k1 A C 13: 111,900,044 (GRCm39) H493Q probably benign Het
Mcm4 A T 16: 15,449,979 (GRCm39) probably null Het
Mllt3 G A 4: 87,759,281 (GRCm39) P256S possibly damaging Het
Mrtfb A G 16: 13,199,465 (GRCm39) E106G probably damaging Het
Myo7a T A 7: 97,721,153 (GRCm39) T1271S probably damaging Het
Ncan C A 8: 70,567,809 (GRCm39) R101L possibly damaging Het
Ndufaf7 A G 17: 79,253,885 (GRCm39) D361G probably benign Het
Neurod6 C T 6: 55,656,572 (GRCm39) A22T probably benign Het
Nexn T A 3: 151,953,879 (GRCm39) K192* probably null Het
Nipsnap2 A T 5: 129,831,909 (GRCm39) Y234F probably damaging Het
Nlrp10 T C 7: 108,523,492 (GRCm39) K663E probably benign Het
Nprl2 A T 9: 107,422,497 (GRCm39) Y329F possibly damaging Het
Nr2f2 C A 7: 70,004,460 (GRCm39) R264L probably damaging Het
Nsun7 A T 5: 66,440,977 (GRCm39) K366I probably damaging Het
Nup35 T A 2: 80,472,984 (GRCm39) M19K probably benign Het
Or10a4 T A 7: 106,696,933 (GRCm39) I87K probably benign Het
Or11i1 A T 3: 106,729,829 (GRCm39) F15L probably damaging Het
Or1ad6 C A 11: 50,860,670 (GRCm39) A275D possibly damaging Het
Or2v1 C G 11: 49,025,549 (GRCm39) H177D probably damaging Het
Or2w2 T A 13: 21,757,948 (GRCm39) Y226F probably benign Het
Or5af1 T A 11: 58,722,798 (GRCm39) S273T probably damaging Het
Or5p51 A G 7: 107,444,776 (GRCm39) S55P probably damaging Het
Patl2 T C 2: 121,957,150 (GRCm39) Y128C probably benign Het
Pcdhac2 A G 18: 37,278,942 (GRCm39) I641V probably benign Het
Peli3 T C 19: 4,991,939 (GRCm39) M1V probably null Het
Pex16 T A 2: 92,205,982 (GRCm39) L25* probably null Het
Plekhn1 C A 4: 156,307,204 (GRCm39) A449S possibly damaging Het
Pot1b A T 17: 55,972,765 (GRCm39) I469N probably damaging Het
Prdx6 A C 1: 161,078,673 (GRCm39) L5W probably damaging Het
Prrc1 G A 18: 57,507,622 (GRCm39) V259I possibly damaging Het
Prss38 T C 11: 59,266,369 (GRCm39) S30G possibly damaging Het
Rgs6 C A 12: 83,106,578 (GRCm39) Y151* probably null Het
Ripk4 A C 16: 97,545,375 (GRCm39) L361R probably damaging Het
Serpinb3d C T 1: 107,006,962 (GRCm39) D249N probably benign Het
Skint10 A T 4: 112,630,224 (GRCm39) probably null Het
Smg7 A T 1: 152,731,713 (GRCm39) N349K probably benign Het
Sohlh2 C A 3: 55,115,104 (GRCm39) S363Y probably damaging Het
Srsf10 A G 4: 135,591,179 (GRCm39) T210A possibly damaging Het
Synpo2l A T 14: 20,710,748 (GRCm39) M624K probably damaging Het
Thsd7a T A 6: 12,331,541 (GRCm39) probably null Het
Tnc A T 4: 63,938,692 (GRCm39) V49E probably damaging Het
Tnik A C 3: 28,704,308 (GRCm39) K989T probably damaging Het
Tnxb T A 17: 34,890,892 (GRCm39) Y412N probably damaging Het
Trmt44 A G 5: 35,726,103 (GRCm39) probably null Het
Tsc2 A T 17: 24,840,686 (GRCm39) V391E probably damaging Het
Ttll5 T C 12: 85,980,450 (GRCm39) probably null Het
Usp28 A G 9: 48,935,360 (GRCm39) I104V probably benign Het
Vmn1r64 A G 7: 5,887,096 (GRCm39) L149S probably damaging Het
Yme1l1 T A 2: 23,082,527 (GRCm39) M506K possibly damaging Het
Zfp280d T A 9: 72,215,247 (GRCm39) F98I probably damaging Het
Zfp62 C A 11: 49,106,227 (GRCm39) T106K 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
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
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'- GGACTTTCTCATGTTACCACGCCTG -3'
(R):5'- TAAGCTGGCAAACGCCGATCTG -3'

Sequencing Primer
(F):5'- accctgctgtcctgtctg -3'
(R):5'- CACACCTCCAGATGTTTCGT -3'
Posted On 2013-06-12