Incidental Mutation 'R8260:Ints1'
ID 639988
Institutional Source Beutler Lab
Gene Symbol Ints1
Ensembl Gene ENSMUSG00000029547
Gene Name integrator complex subunit 1
Synonyms 1110015K06Rik
MMRRC Submission 067685-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8260 (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 139750968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 810 (T810A)
Ref Sequence ENSEMBL: ENSMUSP00000072406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072607] [ENSMUST00000200393]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: T810A

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 noncoding transcript
Transcript: ENSMUST00000184414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200339
Predicted Effect probably benign
Transcript: ENSMUST00000200393
AA Change: T812A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: T812A

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
Meta Mutation Damage Score 0.0694 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik G C 14: 64,223,633 (GRCm39) L48V probably benign Het
Acbd3 T C 1: 180,566,095 (GRCm39) Y263H probably damaging Het
Acot4 C A 12: 84,088,809 (GRCm39) P219Q possibly damaging Het
Adcy6 A G 15: 98,498,919 (GRCm39) F294S probably damaging Het
Ahcyl T C 16: 45,974,786 (GRCm39) E197G probably damaging Het
Aplf T C 6: 87,606,987 (GRCm39) R476G probably benign Het
Arid1b A G 17: 5,382,788 (GRCm39) T1292A probably benign Het
Atp2c1 T A 9: 105,295,778 (GRCm39) I649F probably damaging Het
Bbs10 C T 10: 111,136,104 (GRCm39) Q406* probably null Het
Bcas3 T A 11: 85,400,372 (GRCm39) M447K possibly damaging Het
Bmal1 A T 7: 112,884,258 (GRCm39) I92F probably damaging Het
Cars1 T C 7: 143,139,446 (GRCm39) D214G probably benign Het
Ccdc88a A T 11: 29,443,934 (GRCm39) I1410F probably benign Het
Cd55b A T 1: 130,316,415 (GRCm39) L378H probably damaging Het
Cdh1 G A 8: 107,330,979 (GRCm39) E37K probably benign Het
Cep72 T C 13: 74,206,465 (GRCm39) Y119C probably damaging Het
Ctnnd2 A G 15: 30,634,879 (GRCm39) T176A possibly damaging Het
D630045J12Rik T A 6: 38,119,846 (GRCm39) probably null Het
Ddi1 A T 9: 6,265,524 (GRCm39) C282S probably damaging Het
Ddit4 T C 10: 59,787,277 (GRCm39) T20A probably benign Het
Dpp10 T A 1: 123,614,024 (GRCm39) T102S probably benign Het
Ep400 T A 5: 110,903,478 (GRCm39) K374* probably null Het
Epha3 A G 16: 63,403,917 (GRCm39) L728P probably damaging Het
Fbxw21 C A 9: 108,975,614 (GRCm39) probably null Het
Frmpd1 A G 4: 45,244,638 (GRCm39) E109G probably damaging Het
Ggt1 C T 10: 75,417,245 (GRCm39) P332L probably damaging Het
Gm4779 G C X: 100,837,390 (GRCm39) T171S possibly damaging Het
Gm5431 A T 11: 48,785,556 (GRCm39) I273K probably benign Het
Gon4l A G 3: 88,799,937 (GRCm39) N861D probably damaging Het
Grm5 T C 7: 87,724,340 (GRCm39) probably null Het
Helt T C 8: 46,745,745 (GRCm39) N84S possibly damaging Het
Hnrnpa0 G T 13: 58,275,228 (GRCm39) Y300* probably null Het
Irf2bp1 C T 7: 18,740,079 (GRCm39) A573V possibly damaging Het
Itgbl1 C A 14: 124,065,246 (GRCm39) D133E probably benign Het
Kctd15 A G 7: 34,344,267 (GRCm39) F128S possibly damaging Het
Klra17 T A 6: 129,808,421 (GRCm39) N271Y probably damaging Het
Kmt2c T A 5: 25,610,514 (GRCm39) E197D possibly damaging Het
Larp1 C A 11: 57,949,515 (GRCm39) T1048K probably benign Het
Macf1 A G 4: 123,365,863 (GRCm39) V2966A probably benign Het
Magi3 A G 3: 103,922,625 (GRCm39) L1364P probably benign Het
Malrd1 T C 2: 15,619,017 (GRCm39) S294P Het
Med13l C T 5: 118,886,794 (GRCm39) T1565I possibly damaging Het
Mov10l1 A G 15: 88,896,313 (GRCm39) D719G probably benign Het
Mtcl3 T A 10: 29,024,270 (GRCm39) H395Q possibly damaging Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Myh14 T C 7: 44,264,800 (GRCm39) E1654G probably damaging Het
Myo1c C T 11: 75,546,942 (GRCm39) probably benign Het
Myo9a A G 9: 59,817,961 (GRCm39) T2343A probably benign Het
Or1j12 A G 2: 36,342,897 (GRCm39) Q100R probably damaging Het
Or2ag18 A T 7: 106,405,234 (GRCm39) V145E possibly damaging Het
Or2d2b A T 7: 106,706,062 (GRCm39) M2K probably benign Het
Or4m1 T C 14: 50,557,615 (GRCm39) K226E probably benign Het
Or52m2 T A 7: 102,263,432 (GRCm39) I255F possibly damaging Het
Or52n5 T A 7: 104,587,879 (GRCm39) Y49N probably damaging Het
Or6c2 T A 10: 129,362,957 (GRCm39) I287N possibly damaging Het
Or8k53 T A 2: 86,177,276 (GRCm39) Y278F possibly damaging Het
Or9g3 A T 2: 85,589,820 (GRCm39) L300Q probably damaging Het
Osmr A T 15: 6,844,897 (GRCm39) D957E probably benign Het
Pappa T A 4: 65,234,419 (GRCm39) V1408E probably damaging Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Pdcd6ip A T 9: 113,501,865 (GRCm39) D464E probably benign Het
Pde1c T C 6: 56,114,404 (GRCm39) Y503C probably benign Het
Potefam3d A T 8: 69,972,400 (GRCm39) D116E possibly damaging Het
Prob1 T A 18: 35,787,210 (GRCm39) E348V possibly damaging Het
Rnls A G 19: 33,180,048 (GRCm39) L134S probably damaging Het
Scrn3 T C 2: 73,166,202 (GRCm39) Y412H probably damaging Het
Serpina3g T C 12: 104,205,362 (GRCm39) S34P probably benign Het
Sertad3 G A 7: 27,175,784 (GRCm39) A73T probably benign Het
Sez6l C T 5: 112,609,122 (GRCm39) A576T probably benign Het
Sh3tc2 G A 18: 62,146,137 (GRCm39) R1172H probably damaging Het
Sirt3 A G 7: 140,456,319 (GRCm39) V110A Het
Smpd3 A T 8: 106,984,047 (GRCm39) D557E probably benign Het
Sptssb A T 3: 69,728,305 (GRCm39) M44K probably damaging Het
Tars2 A G 3: 95,662,132 (GRCm39) W7R probably damaging Het
Tbc1d9b A G 11: 50,055,013 (GRCm39) D964G probably benign Het
Tiam2 A T 17: 3,568,594 (GRCm39) D1580V possibly damaging Het
Tmeff2 T A 1: 50,977,478 (GRCm39) V130D probably damaging Het
Top2a T A 11: 98,891,595 (GRCm39) E1176V probably null Het
Trappc9 C A 15: 72,813,758 (GRCm39) E680* probably null Het
Trip10 A G 17: 57,564,314 (GRCm39) N355S probably benign Het
Ttn T C 2: 76,596,337 (GRCm39) E20192G probably damaging Het
Vmn2r96 A G 17: 18,804,243 (GRCm39) M306V probably benign Het
Wdr90 A T 17: 26,064,141 (GRCm39) H1860Q probably damaging Het
Wrnip1 A G 13: 32,989,339 (GRCm39) I276V possibly damaging Het
Zfp608 T C 18: 55,030,821 (GRCm39) K1040E possibly damaging Het
Zfp808 T A 13: 62,320,552 (GRCm39) C594S probably benign 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
R7216:Ints1 UTSW 5 139,754,739 (GRCm39) missense possibly damaging 0.91
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
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'- CAAGGTTAGCTCTGCCTGTTC -3'
(R):5'- AGACACTGGGGCTTAACTGG -3'

Sequencing Primer
(F):5'- CCTTCCACCCACACCTGG -3'
(R):5'- CACTGGGGCTTAACTGGGTAGC -3'
Posted On 2020-07-28