Incidental Mutation 'R2426:Ints1'
ID 250210
Institutional Source Beutler Lab
Gene Symbol Ints1
Ensembl Gene ENSMUSG00000029547
Gene Name integrator complex subunit 1
Synonyms 1110015K06Rik
MMRRC Submission 040388-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2426 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 139737037-139761429 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 139757569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072607] [ENSMUST00000196864] [ENSMUST00000200393] [ENSMUST00000200393]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000072607
SMART Domains Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547

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 probably benign
Transcript: ENSMUST00000196864
SMART Domains Protein: ENSMUSP00000142362
Gene: ENSMUSG00000029547

DomainStartEndE-ValueType
low complexity region 61 75 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200339
Predicted Effect probably null
Transcript: ENSMUST00000200393
SMART Domains Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547

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 null
Transcript: ENSMUST00000200393
SMART Domains Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G T 7: 119,882,446 (GRCm39) V1203L probably benign Het
Adamtsl1 G A 4: 86,075,025 (GRCm39) V131I probably benign Het
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Agbl1 T C 7: 76,071,650 (GRCm39) V324A probably damaging Het
Ahnak A T 19: 8,980,215 (GRCm39) I500F possibly damaging Het
Aldh1l1 A G 6: 90,575,266 (GRCm39) D851G probably damaging Het
Amot T C X: 144,259,287 (GRCm39) K460E probably damaging Het
Arhgef3 G T 14: 27,106,138 (GRCm39) E161* probably null Het
Atg9b A T 5: 24,591,992 (GRCm39) I669N probably damaging Het
Ccdc83 A G 7: 89,877,639 (GRCm39) Y268H probably damaging Het
Cep170 A G 1: 176,602,201 (GRCm39) S302P probably benign Het
Cyp4a31 T A 4: 115,428,213 (GRCm39) M303K probably damaging Het
Cyp4v3 T A 8: 45,770,813 (GRCm39) Y231F probably benign Het
Defa39 T G 8: 22,192,653 (GRCm39) K114N possibly damaging Het
Dock3 A T 9: 106,791,740 (GRCm39) L1411Q possibly damaging Het
Dsg1a T A 18: 20,469,861 (GRCm39) I629N probably damaging Het
Dst A T 1: 34,231,893 (GRCm39) H2837L probably benign Het
Fam114a2 G A 11: 57,383,906 (GRCm39) P343L probably benign Het
Fbrs A G 7: 127,086,511 (GRCm39) probably null Het
Fbxl13 A C 5: 21,727,135 (GRCm39) D620E probably damaging Het
Frmd4a T A 2: 4,534,673 (GRCm39) S164T probably damaging Het
Gdi2 T G 13: 3,612,034 (GRCm39) S330A probably benign Het
Gm5878 A T 6: 85,095,613 (GRCm39) M70K probably benign Het
H2-Q6 G T 17: 35,643,913 (GRCm39) A21S probably benign Het
Hfm1 A T 5: 106,995,519 (GRCm39) probably null Het
Hnmt C T 2: 23,909,167 (GRCm39) C82Y probably benign Het
Il1rl1 C A 1: 40,485,779 (GRCm39) A310D probably damaging Het
Kcne4 C A 1: 78,795,688 (GRCm39) A112E possibly damaging Het
Krt32 T C 11: 99,977,192 (GRCm39) K236R possibly damaging Het
Maml2 T C 9: 13,617,794 (GRCm39) L380P probably damaging Het
Meis1 A T 11: 18,938,356 (GRCm39) D218E possibly damaging Het
Mon1b G A 8: 114,365,752 (GRCm39) G360D probably damaging Het
Mpp4 A G 1: 59,169,216 (GRCm39) S383P probably damaging Het
Neb A G 2: 52,059,065 (GRCm39) probably null Het
Nlgn2 A T 11: 69,717,912 (GRCm39) I431N probably damaging Het
Nr2e1 A G 10: 42,439,481 (GRCm39) L134P probably damaging Het
Opcml G A 9: 28,814,663 (GRCm39) probably null Het
Or2t29 A T 11: 58,433,920 (GRCm39) Y127* probably null Het
Or6c207 T C 10: 129,105,135 (GRCm39) Q19R probably benign Het
Or7c19 T C 8: 85,957,693 (GRCm39) S190P probably damaging Het
Pate2 A T 9: 35,581,776 (GRCm39) probably null Het
Pgr G A 9: 8,900,718 (GRCm39) V84M probably damaging Het
Pigu A T 2: 155,141,002 (GRCm39) V296D probably damaging Het
Plcb2 G A 2: 118,546,130 (GRCm39) T555M probably damaging Het
Pld5 T G 1: 175,791,542 (GRCm39) D426A probably benign Het
Prdm2 G T 4: 142,838,320 (GRCm39) C1679* probably null Het
Psme2b A T 11: 48,836,890 (GRCm39) V19D probably benign Het
Ptpn9 A T 9: 56,934,712 (GRCm39) N159Y possibly damaging Het
Sanbr T A 11: 23,526,801 (GRCm39) R190W probably damaging Het
Sdc3 A T 4: 130,546,114 (GRCm39) T64S unknown Het
Serping1 T G 2: 84,600,563 (GRCm39) S260R probably damaging Het
Slc20a1 T C 2: 129,050,150 (GRCm39) F436S probably benign Het
Sntb1 A T 15: 55,769,575 (GRCm39) I138N probably damaging Het
Sorcs3 A T 19: 48,711,364 (GRCm39) Y643F probably damaging Het
Spink1 G T 18: 43,868,287 (GRCm39) S23* probably null Het
Stag1 T C 9: 100,727,169 (GRCm39) probably null Het
Tnfaip8l1 G A 17: 56,479,030 (GRCm39) V107I probably benign Het
Tnik A G 3: 28,700,830 (GRCm39) S907G probably damaging Het
Ttf1 T A 2: 28,957,197 (GRCm39) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp54 G A 14: 20,615,008 (GRCm39) A811V probably benign Het
Xirp2 A G 2: 67,344,815 (GRCm39) N2352S probably benign Het
Zan T C 5: 137,387,254 (GRCm39) Y4933C unknown Het
Zbtb8a A G 4: 129,254,012 (GRCm39) S161P probably benign Het
Zkscan5 A T 5: 145,157,750 (GRCm39) I751L probably benign Het
Zscan4d A G 7: 10,899,022 (GRCm39) F85S probably damaging Het
Zzef1 A G 11: 72,806,091 (GRCm39) M2647V 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
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
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'- TACCTCCTTGTAGCCACAGG -3'
(R):5'- GTAAGAGATGCCGAGGTGTC -3'

Sequencing Primer
(F):5'- AGGTTCCTGGACACGTTGTC -3'
(R):5'- AGATGCCGAGGTGTCTGTGAG -3'
Posted On 2014-11-12