Incidental Mutation 'R7216:Ints1'
ID 561455
Institutional Source Beutler Lab
Gene Symbol Ints1
Ensembl Gene ENSMUSG00000029547
Gene Name integrator complex subunit 1
Synonyms 1110015K06Rik
MMRRC Submission 045288-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7216 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 139737037-139761429 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139754739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 600 (N600S)
Ref Sequence ENSEMBL: ENSMUSP00000143789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072607] [ENSMUST00000196864] [ENSMUST00000200393]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: N598S

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 88 102 N/A INTRINSIC
Pfam:DUF3677 379 459 6.4e-37 PFAM
low complexity region 854 865 N/A INTRINSIC
low complexity region 870 876 N/A INTRINSIC
low complexity region 946 962 N/A INTRINSIC
low complexity region 965 988 N/A INTRINSIC
low complexity region 1034 1045 N/A INTRINSIC
low complexity region 1058 1069 N/A INTRINSIC
low complexity region 1347 1361 N/A INTRINSIC
low complexity region 1405 1418 N/A INTRINSIC
low complexity region 1615 1624 N/A INTRINSIC
low complexity region 1763 1776 N/A INTRINSIC
low complexity region 1840 1855 N/A INTRINSIC
low complexity region 2062 2076 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196864
SMART Domains Protein: ENSMUSP00000142362
Gene: ENSMUSG00000029547

DomainStartEndE-ValueType
low complexity region 61 75 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000200393
AA Change: N600S

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: N600S

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 88 102 N/A INTRINSIC
Pfam:DUF3677 379 459 6.4e-37 PFAM
low complexity region 854 865 N/A INTRINSIC
low complexity region 870 876 N/A INTRINSIC
low complexity region 946 962 N/A INTRINSIC
low complexity region 965 988 N/A INTRINSIC
low complexity region 1034 1045 N/A INTRINSIC
low complexity region 1058 1069 N/A INTRINSIC
low complexity region 1347 1361 N/A INTRINSIC
low complexity region 1405 1418 N/A INTRINSIC
low complexity region 1615 1624 N/A INTRINSIC
low complexity region 1763 1776 N/A INTRINSIC
low complexity region 1840 1855 N/A INTRINSIC
low complexity region 2062 2076 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Gene trapped(9)

Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,240 (GRCm39) N1551K probably benign Het
Amy2a1 T C 3: 113,324,090 (GRCm39) D150G possibly damaging Het
Atp2b1 T A 10: 98,822,839 (GRCm39) C165S probably benign Het
Atp2c1 A T 9: 105,344,930 (GRCm39) D102E probably benign Het
Capn8 C A 1: 182,426,363 (GRCm39) R233S possibly damaging Het
Cd48 T C 1: 171,523,390 (GRCm39) S78P probably damaging Het
Clasp1 T A 1: 118,475,648 (GRCm39) D944E probably benign Het
Clip2 A G 5: 134,531,771 (GRCm39) M678T probably benign Het
Clmp T C 9: 40,672,205 (GRCm39) Y12H possibly damaging Het
Col22a1 A T 15: 71,845,694 (GRCm39) V356D probably damaging Het
Copg2 A T 6: 30,862,535 (GRCm39) D101E probably damaging Het
Cpsf6 G A 10: 117,197,928 (GRCm39) P229S unknown Het
Dgke T C 11: 88,941,163 (GRCm39) D340G probably benign Het
Dlg1 TAAA TAA 16: 31,615,736 (GRCm39) probably null Het
Dlg5 G A 14: 24,186,706 (GRCm39) Q1865* probably null Het
Dnajc2 C T 5: 21,981,777 (GRCm39) R123Q probably damaging Het
Efcab3 A T 11: 104,771,375 (GRCm39) K2633N possibly damaging Het
Egln2 T C 7: 26,859,254 (GRCm39) D365G probably damaging Het
Epha4 T C 1: 77,421,621 (GRCm39) D287G probably damaging Het
Fat4 A G 3: 38,945,192 (GRCm39) T1362A probably damaging Het
Flt4 A G 11: 49,525,508 (GRCm39) T685A possibly damaging Het
Fras1 T C 5: 96,887,173 (GRCm39) Y2652H probably damaging Het
Gas2 A G 7: 51,547,005 (GRCm39) E52G possibly damaging Het
Gm5093 A T 17: 46,751,014 (GRCm39) D4E not run Het
Gm6370 A T 5: 146,430,723 (GRCm39) T303S probably benign Het
Gpr161 A G 1: 165,134,115 (GRCm39) I126V probably benign Het
Gpr63 T C 4: 25,008,038 (GRCm39) L254P probably damaging Het
H2-M9 C T 17: 36,951,594 (GRCm39) V294I probably benign Het
Insr T A 8: 3,253,034 (GRCm39) N375I possibly damaging Het
Ints10 A G 8: 69,274,809 (GRCm39) N628S probably damaging Het
Irf2 A G 8: 47,246,591 (GRCm39) T20A probably benign Het
Irs1 T A 1: 82,267,476 (GRCm39) T247S probably damaging Het
Islr C T 9: 58,064,250 (GRCm39) S419N unknown Het
Kcna2 T A 3: 107,012,109 (GRCm39) I230N probably damaging Het
Kif3c C A 12: 3,416,126 (GRCm39) A49E probably benign Het
Kifap3 A T 1: 163,623,558 (GRCm39) K108N probably damaging Het
Lama3 T A 18: 12,563,057 (GRCm39) F527I probably damaging Het
Layn A G 9: 50,988,352 (GRCm39) probably benign Het
Lims2 G T 18: 32,090,315 (GRCm39) W276L probably damaging Het
Lsp1 T C 7: 142,042,179 (GRCm39) L133S probably damaging Het
Map3k6 T G 4: 132,974,211 (GRCm39) V536G probably damaging Het
Med7 T A 11: 46,331,681 (GRCm39) L92H probably damaging Het
Mllt1 A G 17: 57,234,042 (GRCm39) V48A probably damaging Het
Mtcl2 T C 2: 156,860,290 (GRCm39) R1650G possibly damaging Het
Neurl4 T A 11: 69,801,088 (GRCm39) V1153E probably damaging Het
Nkx2-1 A C 12: 56,581,587 (GRCm39) C87G probably damaging Het
Nsun7 T C 5: 66,436,000 (GRCm39) S291P probably damaging Het
Or10n1 A T 9: 39,525,790 (GRCm39) Q309L probably benign Het
Or13a18 A T 7: 140,190,373 (GRCm39) N90I possibly damaging Het
Or1p1c A T 11: 74,160,550 (GRCm39) I112F probably damaging Het
Or4e1 G A 14: 52,700,945 (GRCm39) P174S probably damaging Het
Or7g17 T A 9: 18,768,632 (GRCm39) M237K probably benign Het
Pals1 G A 12: 78,844,006 (GRCm39) R70H probably damaging Het
Pbrm1 A G 14: 30,767,379 (GRCm39) Y331C possibly damaging Het
Pirb T A 7: 3,719,273 (GRCm39) T539S probably benign Het
Plch2 T G 4: 155,068,685 (GRCm39) T1314P probably benign Het
Polk T C 13: 96,644,728 (GRCm39) S133G probably benign Het
Pramel27 A G 4: 143,578,399 (GRCm39) I220V probably damaging Het
Prdm5 A T 6: 65,904,967 (GRCm39) K533* probably null Het
Prmt1 T A 7: 44,632,997 (GRCm39) Q35H probably benign Het
Pum3 A T 19: 27,401,625 (GRCm39) W142R probably damaging Het
Rest G A 5: 77,430,455 (GRCm39) R958H probably benign Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Ripor2 G A 13: 24,855,886 (GRCm39) G109R probably damaging Het
Sec62 C T 3: 30,872,978 (GRCm39) Q354* probably null Het
Snx14 T C 9: 88,263,844 (GRCm39) Y847C probably damaging Het
Sox7 A T 14: 64,185,438 (GRCm39) D158V probably benign Het
Spag8 A G 4: 43,652,034 (GRCm39) V350A possibly damaging Het
Syngr1 A T 15: 79,995,934 (GRCm39) I158F probably damaging Het
Tacstd2 C A 6: 67,511,979 (GRCm39) V238L probably benign Het
Tex15 T C 8: 34,063,014 (GRCm39) S815P possibly damaging Het
Tmem117 A T 15: 94,612,793 (GRCm39) T110S possibly damaging Het
Tnrc6a T C 7: 122,770,718 (GRCm39) I836T probably benign Het
Trim30b C A 7: 104,006,569 (GRCm39) V96L probably benign Het
Tssk3 TGCTATCATGGGG TG 4: 129,383,106 (GRCm39) probably null Het
Tyk2 G T 9: 21,031,822 (GRCm39) H418N probably benign Het
Uap1 G T 1: 169,986,472 (GRCm39) T170K probably damaging Het
Vmn1r40 T C 6: 89,691,606 (GRCm39) V141A not run Het
Vmn1r54 T A 6: 90,246,647 (GRCm39) I187K probably damaging Het
Vmp1 C T 11: 86,492,859 (GRCm39) V317M probably damaging Het
Wnt8b A G 19: 44,500,511 (GRCm39) K366R probably benign Het
Zfp207 C T 11: 80,286,004 (GRCm39) P415L unknown Het
Zfp263 A G 16: 3,562,435 (GRCm39) E66G probably damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp985 T A 4: 147,667,913 (GRCm39) H260Q probably damaging Het
Zmiz1 GCC GC 14: 25,576,624 (GRCm39) probably null Het
Zmiz1 A G 14: 25,576,633 (GRCm39) R47G probably damaging Het
Zmiz1 A C 14: 25,576,631 (GRCm39) Q46P probably damaging Het
Other mutations in Ints1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Ints1 APN 5 139,757,437 (GRCm39) missense probably damaging 0.99
IGL01329:Ints1 APN 5 139,753,258 (GRCm39) splice site probably benign
IGL01414:Ints1 APN 5 139,744,253 (GRCm39) missense probably benign
IGL01612:Ints1 APN 5 139,742,047 (GRCm39) missense probably benign 0.17
IGL01726:Ints1 APN 5 139,754,166 (GRCm39) splice site probably benign
IGL01958:Ints1 APN 5 139,745,843 (GRCm39) missense possibly damaging 0.94
IGL02122:Ints1 APN 5 139,750,905 (GRCm39) nonsense probably null
IGL02149:Ints1 APN 5 139,737,715 (GRCm39) missense probably damaging 1.00
IGL02349:Ints1 APN 5 139,754,223 (GRCm39) missense probably damaging 0.96
IGL02557:Ints1 APN 5 139,757,392 (GRCm39) missense probably damaging 1.00
IGL02814:Ints1 APN 5 139,758,146 (GRCm39) missense possibly damaging 0.80
IGL02815:Ints1 APN 5 139,741,037 (GRCm39) missense probably damaging 0.96
IGL02825:Ints1 APN 5 139,750,494 (GRCm39) missense probably benign 0.32
IGL03000:Ints1 APN 5 139,752,261 (GRCm39) missense probably benign 0.01
IGL03164:Ints1 APN 5 139,738,490 (GRCm39) missense probably damaging 0.99
forgiving UTSW 5 139,753,583 (GRCm39) missense probably damaging 0.99
restrained UTSW 5 139,753,481 (GRCm39) missense possibly damaging 0.68
A9681:Ints1 UTSW 5 139,755,894 (GRCm39) missense possibly damaging 0.56
R0113:Ints1 UTSW 5 139,750,968 (GRCm39) missense
R0193:Ints1 UTSW 5 139,737,485 (GRCm39) missense probably damaging 1.00
R0372:Ints1 UTSW 5 139,758,193 (GRCm39) missense probably damaging 1.00
R1129:Ints1 UTSW 5 139,744,226 (GRCm39) missense probably benign 0.00
R1290:Ints1 UTSW 5 139,757,165 (GRCm39) nonsense probably null
R1313:Ints1 UTSW 5 139,748,661 (GRCm39) missense probably benign
R1313:Ints1 UTSW 5 139,748,661 (GRCm39) missense probably benign
R1691:Ints1 UTSW 5 139,754,687 (GRCm39) missense probably damaging 1.00
R1708:Ints1 UTSW 5 139,748,594 (GRCm39) missense probably damaging 1.00
R1791:Ints1 UTSW 5 139,760,277 (GRCm39) missense probably benign 0.04
R2066:Ints1 UTSW 5 139,753,251 (GRCm39) missense probably benign 0.14
R2102:Ints1 UTSW 5 139,741,754 (GRCm39) missense possibly damaging 0.50
R2108:Ints1 UTSW 5 139,753,505 (GRCm39) missense probably damaging 1.00
R2238:Ints1 UTSW 5 139,750,955 (GRCm39) missense possibly damaging 0.95
R2426:Ints1 UTSW 5 139,757,569 (GRCm39) critical splice donor site probably null
R2913:Ints1 UTSW 5 139,743,668 (GRCm39) missense possibly damaging 0.91
R3896:Ints1 UTSW 5 139,743,399 (GRCm39) nonsense probably null
R4608:Ints1 UTSW 5 139,745,599 (GRCm39) missense probably benign 0.13
R4658:Ints1 UTSW 5 139,760,054 (GRCm39) missense possibly damaging 0.88
R4797:Ints1 UTSW 5 139,757,631 (GRCm39) missense possibly damaging 0.85
R4887:Ints1 UTSW 5 139,756,911 (GRCm39) missense possibly damaging 0.66
R4944:Ints1 UTSW 5 139,743,847 (GRCm39) splice site probably null
R4956:Ints1 UTSW 5 139,742,885 (GRCm39) missense probably damaging 1.00
R4976:Ints1 UTSW 5 139,738,566 (GRCm39) missense probably damaging 1.00
R5283:Ints1 UTSW 5 139,750,137 (GRCm39) missense probably damaging 1.00
R5354:Ints1 UTSW 5 139,752,183 (GRCm39) critical splice donor site probably null
R5496:Ints1 UTSW 5 139,740,953 (GRCm39) missense probably benign 0.07
R5517:Ints1 UTSW 5 139,738,542 (GRCm39) missense possibly damaging 0.86
R5696:Ints1 UTSW 5 139,740,744 (GRCm39) missense probably benign 0.00
R5766:Ints1 UTSW 5 139,757,900 (GRCm39) missense probably benign 0.33
R6359:Ints1 UTSW 5 139,741,972 (GRCm39) missense probably benign 0.09
R6753:Ints1 UTSW 5 139,750,930 (GRCm39) missense probably damaging 1.00
R6892:Ints1 UTSW 5 139,753,583 (GRCm39) missense probably damaging 0.99
R7009:Ints1 UTSW 5 139,754,217 (GRCm39) missense possibly damaging 0.83
R7047:Ints1 UTSW 5 139,744,226 (GRCm39) nonsense probably null
R7220:Ints1 UTSW 5 139,747,828 (GRCm39) missense possibly damaging 0.91
R7263:Ints1 UTSW 5 139,749,834 (GRCm39) missense possibly damaging 0.50
R7291:Ints1 UTSW 5 139,750,829 (GRCm39) missense probably damaging 1.00
R7319:Ints1 UTSW 5 139,746,520 (GRCm39) missense probably damaging 1.00
R7411:Ints1 UTSW 5 139,750,015 (GRCm39) missense possibly damaging 0.54
R7497:Ints1 UTSW 5 139,754,731 (GRCm39) missense probably damaging 0.99
R7529:Ints1 UTSW 5 139,753,481 (GRCm39) missense possibly damaging 0.68
R7710:Ints1 UTSW 5 139,756,840 (GRCm39) missense probably benign 0.17
R7816:Ints1 UTSW 5 139,757,134 (GRCm39) missense possibly damaging 0.90
R7819:Ints1 UTSW 5 139,746,522 (GRCm39) missense probably damaging 1.00
R7992:Ints1 UTSW 5 139,742,282 (GRCm39) missense probably damaging 1.00
R8260:Ints1 UTSW 5 139,750,968 (GRCm39) missense
R8265:Ints1 UTSW 5 139,757,919 (GRCm39) missense probably damaging 1.00
R8782:Ints1 UTSW 5 139,744,952 (GRCm39) missense probably benign 0.28
R9016:Ints1 UTSW 5 139,744,326 (GRCm39) missense probably benign
R9053:Ints1 UTSW 5 139,747,822 (GRCm39) missense possibly damaging 0.55
R9056:Ints1 UTSW 5 139,760,041 (GRCm39) critical splice donor site probably null
R9080:Ints1 UTSW 5 139,739,300 (GRCm39) missense probably benign 0.00
R9086:Ints1 UTSW 5 139,743,947 (GRCm39) missense probably benign
R9122:Ints1 UTSW 5 139,745,930 (GRCm39) missense possibly damaging 0.83
R9134:Ints1 UTSW 5 139,743,351 (GRCm39) missense probably benign
R9135:Ints1 UTSW 5 139,737,701 (GRCm39) missense possibly damaging 0.49
R9169:Ints1 UTSW 5 139,748,586 (GRCm39) missense probably benign
R9280:Ints1 UTSW 5 139,750,469 (GRCm39) missense probably damaging 1.00
R9458:Ints1 UTSW 5 139,743,407 (GRCm39) missense probably damaging 1.00
R9666:Ints1 UTSW 5 139,748,217 (GRCm39) missense probably benign 0.00
Z1177:Ints1 UTSW 5 139,757,393 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- AGGCATGCGGACAATGATTG -3'
(R):5'- TGGGTTTTCTAGAAGCAGCG -3'

Sequencing Primer
(F):5'- CATGCGGACAATGATTGCCTTG -3'
(R):5'- GTTTTCTAGAAGCAGCGGTCCC -3'
Posted On 2019-06-26