Incidental Mutation 'R8147:Ints6'
ID 632881
Institutional Source Beutler Lab
Gene Symbol Ints6
Ensembl Gene ENSMUSG00000035161
Gene Name integrator complex subunit 6
Synonyms Notch2l, DICE1, Ddx26, 2900075H24Rik
MMRRC Submission 067575-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8147 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 62913779-62998618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62951186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 281 (G281D)
Ref Sequence ENSEMBL: ENSMUSP00000086788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053959] [ENSMUST00000223585]
AlphaFold Q6PCM2
Predicted Effect probably damaging
Transcript: ENSMUST00000053959
AA Change: G281D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
AA Change: G281D

DomainStartEndE-ValueType
VWA 1 158 4.11e-1 SMART
Blast:VWA 307 331 1e-7 BLAST
Blast:RRM_2 701 727 3e-8 BLAST
Pfam:INT_SG_DDX_CT_C 803 865 4e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223585
AA Change: G281D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8360 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.5%
  • 20x: 94.3%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,562,876 (GRCm39) E487G probably damaging Het
Aldh9a1 T A 1: 167,184,949 (GRCm39) I287N probably damaging Het
Aox1 T A 1: 58,339,821 (GRCm39) N371K probably benign Het
Atr T A 9: 95,781,113 (GRCm39) F1392L probably damaging Het
Bicra G A 7: 15,722,395 (GRCm39) P374L possibly damaging Het
Cacna1b C T 2: 24,569,188 (GRCm39) R912Q probably damaging Het
Cdhr1 T C 14: 36,801,609 (GRCm39) N778S probably benign Het
Cert1 C T 13: 96,679,736 (GRCm39) P22L probably benign Het
Dgat2 C T 7: 98,806,187 (GRCm39) V337I possibly damaging Het
Dlg5 T C 14: 24,208,395 (GRCm39) D937G probably benign Het
Dqx1 T C 6: 83,037,222 (GRCm39) V295A probably benign Het
Dsg3 A G 18: 20,673,130 (GRCm39) T934A probably benign Het
Fam81b A C 13: 76,383,140 (GRCm39) V243G probably damaging Het
Gen1 A T 12: 11,305,051 (GRCm39) probably null Het
Glrx3 G A 7: 137,064,736 (GRCm39) S275N probably benign Het
Igdcc4 A T 9: 65,031,253 (GRCm39) Q397L probably benign Het
Kalrn A T 16: 33,875,414 (GRCm39) S1722T probably benign Het
Lrrc4b A G 7: 44,111,829 (GRCm39) D567G probably damaging Het
Macf1 A G 4: 123,385,491 (GRCm39) L1200S probably damaging Het
Mad1l1 G A 5: 140,129,734 (GRCm39) R434C probably damaging Het
Mia3 A T 1: 183,109,062 (GRCm39) F358I Het
Ncapd3 C T 9: 26,942,014 (GRCm39) probably benign Het
Nfkb2 A G 19: 46,295,873 (GRCm39) R156G possibly damaging Het
Nus1 T C 10: 52,305,416 (GRCm39) probably null Het
Or2y14 C T 11: 49,405,050 (GRCm39) T195I probably benign Het
Or4a79 T A 2: 89,552,186 (GRCm39) I90F probably damaging Het
Or4c31 T C 2: 88,292,427 (GRCm39) F267L possibly damaging Het
Or5aq1b T A 2: 86,902,017 (GRCm39) I154F probably benign Het
Pafah1b2 A G 9: 45,895,147 (GRCm39) probably null Het
Pold2 T C 11: 5,826,842 (GRCm39) T31A probably benign Het
Ppp1r12b T C 1: 134,801,680 (GRCm39) N512S possibly damaging Het
Prl8a8 A T 13: 27,695,564 (GRCm39) L23Q probably damaging Het
Ptprb T C 10: 116,153,283 (GRCm39) V293A probably damaging Het
Rpl18a G T 8: 71,348,069 (GRCm39) T174N probably damaging Het
Senp5 A T 16: 31,808,128 (GRCm39) H375Q probably benign Het
Setbp1 A T 18: 78,900,015 (GRCm39) F1217L probably damaging Het
Skint4 A G 4: 111,993,218 (GRCm39) I314V probably benign Het
Slc28a2 A G 2: 122,288,682 (GRCm39) D596G probably benign Het
Stat5b A G 11: 100,688,607 (GRCm39) I285T probably benign Het
Sycp3 T C 10: 88,298,467 (GRCm39) probably null Het
Sympk T C 7: 18,770,718 (GRCm39) F270L probably damaging Het
Taar5 T C 10: 23,846,749 (GRCm39) V49A probably damaging Het
Tbx18 C T 9: 87,606,411 (GRCm39) V245I probably damaging Het
Tet1 A G 10: 62,714,586 (GRCm39) M403T probably benign Het
Tmprss11f A T 5: 86,677,769 (GRCm39) F333L probably damaging Het
Tnpo3 T C 6: 29,589,213 (GRCm39) I46V probably benign Het
Traf5 G T 1: 191,746,984 (GRCm39) N112K probably damaging Het
Trim12c A T 7: 103,991,165 (GRCm39) M263K unknown Het
Trim55 A G 3: 19,727,011 (GRCm39) I359M probably benign Het
Utp20 A T 10: 88,594,306 (GRCm39) W2140R probably benign Het
Vgll3 T C 16: 65,624,964 (GRCm39) V104A probably damaging Het
Vmn2r74 C A 7: 85,605,227 (GRCm39) G474* probably null Het
Vps18 G A 2: 119,123,237 (GRCm39) A98T probably benign Het
Zfand4 T A 6: 116,291,169 (GRCm39) S387T probably damaging Het
Zfp808 A G 13: 62,320,934 (GRCm39) Y721C probably damaging Het
Other mutations in Ints6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:Ints6 APN 14 62,940,628 (GRCm39) missense probably damaging 1.00
IGL00763:Ints6 APN 14 62,938,314 (GRCm39) splice site probably benign
IGL01624:Ints6 APN 14 62,934,320 (GRCm39) missense probably benign 0.07
IGL01721:Ints6 APN 14 62,951,188 (GRCm39) missense probably damaging 0.96
IGL02146:Ints6 APN 14 62,996,709 (GRCm39) missense possibly damaging 0.91
G1Funyon:Ints6 UTSW 14 62,939,902 (GRCm39) missense probably benign
R0302:Ints6 UTSW 14 62,946,961 (GRCm39) missense probably damaging 1.00
R0320:Ints6 UTSW 14 62,945,084 (GRCm39) nonsense probably null
R0543:Ints6 UTSW 14 62,934,060 (GRCm39) missense probably damaging 1.00
R0554:Ints6 UTSW 14 62,942,200 (GRCm39) missense possibly damaging 0.87
R0620:Ints6 UTSW 14 62,934,208 (GRCm39) missense probably benign
R0960:Ints6 UTSW 14 62,947,015 (GRCm39) missense probably benign 0.39
R1216:Ints6 UTSW 14 62,945,147 (GRCm39) missense probably damaging 1.00
R1254:Ints6 UTSW 14 62,953,823 (GRCm39) missense probably benign 0.27
R1296:Ints6 UTSW 14 62,942,352 (GRCm39) splice site probably benign
R1548:Ints6 UTSW 14 62,951,141 (GRCm39) missense probably damaging 1.00
R1944:Ints6 UTSW 14 62,931,089 (GRCm39) missense probably benign 0.03
R2040:Ints6 UTSW 14 62,951,138 (GRCm39) missense probably damaging 0.99
R2279:Ints6 UTSW 14 62,942,131 (GRCm39) critical splice donor site probably null
R2844:Ints6 UTSW 14 62,942,275 (GRCm39) missense probably damaging 0.97
R3107:Ints6 UTSW 14 62,998,041 (GRCm39) missense possibly damaging 0.92
R3407:Ints6 UTSW 14 62,934,386 (GRCm39) missense probably benign 0.00
R3895:Ints6 UTSW 14 62,934,060 (GRCm39) missense probably damaging 1.00
R4608:Ints6 UTSW 14 62,940,678 (GRCm39) missense probably damaging 1.00
R4903:Ints6 UTSW 14 62,939,911 (GRCm39) missense probably damaging 1.00
R4964:Ints6 UTSW 14 62,939,911 (GRCm39) missense probably damaging 1.00
R4966:Ints6 UTSW 14 62,939,911 (GRCm39) missense probably damaging 1.00
R5014:Ints6 UTSW 14 62,997,640 (GRCm39) missense probably benign 0.00
R5369:Ints6 UTSW 14 62,981,384 (GRCm39) missense probably damaging 1.00
R6478:Ints6 UTSW 14 62,938,235 (GRCm39) missense probably benign 0.37
R7022:Ints6 UTSW 14 62,951,786 (GRCm39) missense probably damaging 1.00
R7403:Ints6 UTSW 14 62,945,104 (GRCm39) missense possibly damaging 0.50
R7422:Ints6 UTSW 14 62,942,224 (GRCm39) missense probably benign
R7909:Ints6 UTSW 14 62,996,779 (GRCm39) missense probably damaging 0.99
R8301:Ints6 UTSW 14 62,939,902 (GRCm39) missense probably benign
R8496:Ints6 UTSW 14 62,943,325 (GRCm39) missense probably benign 0.06
R8502:Ints6 UTSW 14 62,998,028 (GRCm39) missense possibly damaging 0.92
R8514:Ints6 UTSW 14 62,933,166 (GRCm39) missense possibly damaging 0.89
R8540:Ints6 UTSW 14 62,934,353 (GRCm39) missense probably benign 0.39
R8733:Ints6 UTSW 14 62,934,297 (GRCm39) missense probably benign 0.01
R8810:Ints6 UTSW 14 62,939,902 (GRCm39) missense probably benign 0.02
R8839:Ints6 UTSW 14 62,931,122 (GRCm39) missense probably benign 0.06
R9057:Ints6 UTSW 14 62,951,740 (GRCm39) critical splice donor site probably null
R9178:Ints6 UTSW 14 62,947,036 (GRCm39) missense probably damaging 1.00
R9318:Ints6 UTSW 14 62,934,147 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTCATGCTTCAAGCCAGC -3'
(R):5'- AAGCCCATAATCTACAAGCATTAGG -3'

Sequencing Primer
(F):5'- CTTGTGCTATACAGTTCAACAAAGCC -3'
(R):5'- GGGCAGCCAGATATATCAA -3'
Posted On 2020-06-30