Incidental Mutation 'R5369:Ints6'
ID 429568
Institutional Source Beutler Lab
Gene Symbol Ints6
Ensembl Gene ENSMUSG00000035161
Gene Name integrator complex subunit 6
Synonyms Notch2l, DICE1, Ddx26, 2900075H24Rik
MMRRC Submission 042946-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5369 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 62913779-62998618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62981384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 135 (T135A)
Ref Sequence ENSEMBL: ENSMUSP00000152954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053959] [ENSMUST00000223585]
AlphaFold Q6PCM2
Predicted Effect probably damaging
Transcript: ENSMUST00000053959
AA Change: T135A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
AA Change: T135A

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: T135A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225406
Meta Mutation Damage Score 0.2077 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,545,796 (GRCm39) T444A probably damaging Het
A330070K13Rik G A 5: 130,407,932 (GRCm39) probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acbd5 T A 2: 23,002,522 (GRCm39) L508Q probably damaging Het
Asb15 T C 6: 24,562,563 (GRCm39) V175A probably benign Het
B3galnt2 T C 13: 14,169,010 (GRCm39) probably null Het
BC024139 A C 15: 76,004,422 (GRCm39) S711R probably benign Het
Bod1l A G 5: 41,984,526 (GRCm39) I508T probably damaging Het
Btnl6 T A 17: 34,726,959 (GRCm39) R524* probably null Het
C3 C A 17: 57,528,159 (GRCm39) D687Y probably benign Het
Ccbe1 G A 18: 66,194,485 (GRCm39) A367V probably benign Het
Ccr1 A T 9: 123,764,326 (GRCm39) M68K probably damaging Het
Cd27 T A 6: 125,211,327 (GRCm39) probably benign Het
Celf2 C A 2: 7,085,892 (GRCm39) probably benign Het
Cfap54 T C 10: 92,897,119 (GRCm39) probably benign Het
Cfap97 A G 8: 46,622,687 (GRCm39) K26E probably damaging Het
Clcn4 T A 7: 7,299,032 (GRCm39) I48F probably benign Het
Cnot7 A T 8: 40,947,061 (GRCm39) N238K probably benign Het
Colec12 A G 18: 9,866,750 (GRCm39) I654V unknown Het
Dip2a A G 10: 76,128,194 (GRCm39) I22T probably damaging Het
Eif4g3 C T 4: 137,910,645 (GRCm39) T1375M possibly damaging Het
Eml5 C T 12: 98,825,042 (GRCm39) G725D probably damaging Het
F12 T C 13: 55,566,304 (GRCm39) E496G probably benign Het
Fam227a A T 15: 79,499,637 (GRCm39) S573T probably benign Het
Fnip1 T C 11: 54,393,415 (GRCm39) V593A probably benign Het
Focad T A 4: 88,039,610 (GRCm39) probably benign Het
Frem1 A G 4: 82,919,976 (GRCm39) I460T possibly damaging Het
Galnt10 T G 11: 57,656,573 (GRCm39) probably null Het
Gm5592 A T 7: 40,867,635 (GRCm39) probably benign Het
Gm6185 A T 1: 161,037,330 (GRCm39) noncoding transcript Het
Gm7935 A T 15: 73,952,963 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Gstm5 G A 3: 107,805,782 (GRCm39) A198T probably damaging Het
Herc2 T A 7: 55,832,448 (GRCm39) V3048D probably damaging Het
Htra4 T G 8: 25,523,585 (GRCm39) I327L possibly damaging Het
Ifi209 T C 1: 173,464,873 (GRCm39) M1T probably null Het
Itpr1 T A 6: 108,496,385 (GRCm39) I2604N probably damaging Het
Krt6a T A 15: 101,600,993 (GRCm39) M268L probably benign Het
Lrp1b G T 2: 40,894,625 (GRCm39) S2201* probably null Het
Lrp2 T C 2: 69,289,904 (GRCm39) N3645S probably benign Het
Lrrc15 A T 16: 30,091,722 (GRCm39) I539N possibly damaging Het
Map3k6 T C 4: 132,974,992 (GRCm39) I675T probably damaging Het
Map3k9 T A 12: 81,768,826 (GRCm39) E1074V probably damaging Het
Med13l T A 5: 118,862,075 (GRCm39) S339R probably benign Het
Mrps18a T C 17: 46,436,552 (GRCm39) probably benign Het
Mtcl2 T C 2: 156,882,654 (GRCm39) E466G probably damaging Het
Nat8f2 G T 6: 85,844,854 (GRCm39) Y169* probably null Het
Nlrp1b A G 11: 71,072,625 (GRCm39) I406T probably benign Het
Npc1l1 A G 11: 6,167,705 (GRCm39) probably null Het
Or10z1 A G 1: 174,078,007 (GRCm39) V162A probably damaging Het
Or5ac20 A T 16: 59,104,743 (GRCm39) M39K probably damaging Het
Ostf1 C T 19: 18,558,689 (GRCm39) G198E probably benign Het
Pcsk5 A G 19: 17,558,619 (GRCm39) V596A probably damaging Het
Pde4c T C 8: 71,202,754 (GRCm39) *647Q probably null Het
Pkm A T 9: 59,577,917 (GRCm39) I245F probably damaging Het
Prss3b T A 6: 41,009,940 (GRCm39) R131S probably benign Het
Ptprj T C 2: 90,299,985 (GRCm39) H179R probably benign Het
Rapgef2 A T 3: 78,976,739 (GRCm39) S1356T probably benign Het
Rbm45 T A 2: 76,200,594 (GRCm39) L41Q probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scel A T 14: 103,823,929 (GRCm39) I386F probably benign Het
Serpinb5 A T 1: 106,809,487 (GRCm39) N298Y possibly damaging Het
Sirt3 A T 7: 140,449,406 (GRCm39) L180Q probably damaging Het
Slc24a2 C T 4: 86,909,625 (GRCm39) V698I probably damaging Het
Slc43a3 A T 2: 84,788,067 (GRCm39) H483L probably damaging Het
Snrnp35 A G 5: 124,628,262 (GRCm39) D25G probably benign Het
Snrnp40 T C 4: 130,256,439 (GRCm39) S55P probably damaging Het
Snx9 T A 17: 5,970,855 (GRCm39) C399S probably damaging Het
Ttbk2 T C 2: 120,655,743 (GRCm39) probably benign Het
Vmn1r1 A G 1: 181,985,341 (GRCm39) V108A possibly damaging Het
Vmn1r201 T A 13: 22,659,672 (GRCm39) N295K probably benign Het
Zfp292 G A 4: 34,807,491 (GRCm39) P1851L possibly damaging Het
Zfp472 A T 17: 33,196,717 (GRCm39) D264V 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
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
R8147:Ints6 UTSW 14 62,951,186 (GRCm39) missense probably damaging 1.00
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'- CTCTGCACAGAAAGGATTCCTATTC -3'
(R):5'- CAGAGGGATTGTGGGCATTC -3'

Sequencing Primer
(F):5'- TGACAACTGCTATGAACAAAGGTAG -3'
(R):5'- CAGAGGGATTGTGGGCATTCTTTTC -3'
Posted On 2016-09-06