Incidental Mutation 'R7529:Ints1'
ID 583186
Institutional Source Beutler Lab
Gene Symbol Ints1
Ensembl Gene ENSMUSG00000029547
Gene Name integrator complex subunit 1
Synonyms 1110015K06Rik
MMRRC Submission 045601-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7529 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 139737037-139761429 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139753481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 717 (A717V)
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: A715V

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: A717V

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: A717V

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 0.0873 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (79/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T A 7: 127,836,336 (GRCm39) K86* probably null Het
Ablim3 A C 18: 61,955,039 (GRCm39) S317A probably benign Het
Adcy1 T C 11: 7,089,157 (GRCm39) S524P probably damaging Het
Agps C A 2: 75,662,696 (GRCm39) A47E possibly damaging Het
Arhgef15 G T 11: 68,844,848 (GRCm39) R250S probably damaging Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atoh8 G T 6: 72,200,825 (GRCm39) D288E probably benign Het
B3galt2 A C 1: 143,522,274 (GRCm39) K137Q probably benign Het
Cacna2d4 G A 6: 119,247,727 (GRCm39) V343I probably benign Het
Cage1 T C 13: 38,209,731 (GRCm39) N82S possibly damaging Het
Cep350 A G 1: 155,737,669 (GRCm39) S2725P probably benign Het
Cfap65 T C 1: 74,965,769 (GRCm39) N414D probably damaging Het
Cgnl1 A C 9: 71,539,040 (GRCm39) L1154R probably damaging Het
Cmya5 A T 13: 93,233,942 (GRCm39) M382K probably benign Het
Dchs2 G A 3: 83,261,705 (GRCm39) V2658M possibly damaging Het
Dlgap5 T C 14: 47,653,876 (GRCm39) N51S probably damaging Het
Dnah17 A G 11: 117,940,692 (GRCm39) probably null Het
Dnal1 A G 12: 84,178,117 (GRCm39) I35V probably benign Het
Dtnbp1 A G 13: 45,084,546 (GRCm39) F198S probably damaging Het
Edar A T 10: 58,447,830 (GRCm39) S160T probably benign Het
Enpp3 A T 10: 24,674,072 (GRCm39) N409K probably damaging Het
Ercc6 T A 14: 32,282,686 (GRCm39) C726* probably null Het
Extl2 G A 3: 115,821,055 (GRCm39) V301I possibly damaging Het
G2e3 A G 12: 51,418,387 (GRCm39) Q594R probably damaging Het
Gal3st2c A G 1: 93,937,039 (GRCm39) N328S probably benign Het
Galnt17 A G 5: 131,335,218 (GRCm39) V74A probably damaging Het
Ggta1 A G 2: 35,304,256 (GRCm39) W76R probably damaging Het
Gm9772 T A 17: 22,226,140 (GRCm39) D48V probably benign Het
Herpud2 T C 9: 25,020,193 (GRCm39) T388A probably damaging Het
Ighv5-9-1 A G 12: 113,699,954 (GRCm39) S53P possibly damaging Het
Il23r T A 6: 67,467,720 (GRCm39) M16L possibly damaging Het
Itpr2 A T 6: 146,096,096 (GRCm39) L2122Q probably damaging Het
Klrg2 A T 6: 38,607,266 (GRCm39) V248E probably damaging Het
Krtap5-5 A G 7: 141,783,429 (GRCm39) C74R unknown Het
Luzp1 G T 4: 136,268,243 (GRCm39) L155F probably damaging Het
Mcam T C 9: 44,050,192 (GRCm39) V209A probably benign Het
Med1 G C 11: 98,046,791 (GRCm39) T1335R unknown Het
Mroh2b A G 15: 4,978,491 (GRCm39) I1346V probably damaging Het
Mrpl4 C G 9: 20,918,975 (GRCm39) Q201E probably benign Het
Muc21 A T 17: 35,930,123 (GRCm39) S1354R unknown Het
Mylk2 T C 2: 152,757,624 (GRCm39) L326P probably damaging Het
Myot A T 18: 44,479,240 (GRCm39) R326* probably null Het
Nox3 T A 17: 3,722,050 (GRCm39) R288S probably damaging Het
Nox4 A T 7: 87,044,976 (GRCm39) Y572F unknown Het
Or2v2 A G 11: 49,003,686 (GRCm39) L289P probably damaging Het
Or5an10 A G 19: 12,276,086 (GRCm39) S137P probably damaging Het
Pcdhb15 G T 18: 37,607,526 (GRCm39) E253* probably null Het
Plcb2 T C 2: 118,540,715 (GRCm39) H1052R probably damaging Het
Plpp5 A T 8: 26,214,233 (GRCm39) Q250L probably benign Het
Plxna2 T C 1: 194,326,179 (GRCm39) Y38H probably benign Het
Pnpla8 A G 12: 44,329,963 (GRCm39) K172E probably benign Het
Pramel23 T C 4: 143,429,244 (GRCm39) Het
Prl8a9 T A 13: 27,744,511 (GRCm39) D110V probably benign Het
Prrx1 T C 1: 163,081,533 (GRCm39) probably null Het
Prss52 T A 14: 64,347,037 (GRCm39) H70Q probably benign Het
Rcc1 T C 4: 132,061,874 (GRCm39) T300A probably benign Het
Rnf114 T C 2: 167,349,014 (GRCm39) V64A possibly damaging Het
Rnf168 T C 16: 32,117,732 (GRCm39) I431T probably damaging Het
Rnmt A G 18: 68,444,726 (GRCm39) M232V probably benign Het
Rrs1 A C 1: 9,616,417 (GRCm39) Q223H probably benign Het
Scyl3 A T 1: 163,771,438 (GRCm39) L261F probably damaging Het
Slc24a4 A T 12: 102,230,707 (GRCm39) T533S probably benign Het
Slc26a2 A G 18: 61,331,430 (GRCm39) L667P probably damaging Het
Snrnp40 T A 4: 130,278,275 (GRCm39) V260D possibly damaging Het
Snrpa A C 7: 26,888,878 (GRCm39) M174R probably benign Het
Ss18l1 C T 2: 179,699,950 (GRCm39) A270V possibly damaging Het
Stk19 G T 17: 35,043,632 (GRCm39) Q193K probably benign Het
Syne1 T A 10: 5,374,382 (GRCm39) I142L probably damaging Het
Tbx2 T C 11: 85,731,727 (GRCm39) S675P probably benign Het
Tcaf1 A G 6: 42,652,289 (GRCm39) I731T probably damaging Het
Tg G T 15: 66,566,617 (GRCm39) G1222W probably damaging Het
Tsc2 A G 17: 24,816,922 (GRCm39) F1581L probably damaging Het
Ubr4 G C 4: 139,149,728 (GRCm39) V520L probably benign Het
Wls A T 3: 159,578,644 (GRCm39) N69Y probably benign Het
Wnk2 A G 13: 49,254,457 (GRCm39) F353L possibly damaging Het
Xkr6 G T 14: 64,056,610 (GRCm39) V430F probably benign Het
Zfp64 C T 2: 168,735,992 (GRCm39) G562R probably benign Het
Zfp663 T G 2: 165,194,728 (GRCm39) E497A probably damaging Het
Zfp995 A T 17: 22,099,333 (GRCm39) C300* probably null 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
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'- TCCAAAGATACCTGGGTTCCC -3'
(R):5'- TCATGGTGGCTCCTTACCAC -3'

Sequencing Primer
(F):5'- AAAGATACCTGGGTTCCCGAGTC -3'
(R):5'- GGTGGCTCCTTACCACCTGTC -3'
Posted On 2019-10-17