Incidental Mutation 'R7220:Ints1'
ID 561728
Institutional Source Beutler Lab
Gene Symbol Ints1
Ensembl Gene ENSMUSG00000029547
Gene Name integrator complex subunit 1
Synonyms 1110015K06Rik
MMRRC Submission 045292-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7220 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 139737037-139761429 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139747828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1193 (I1193N)
Ref Sequence ENSEMBL: ENSMUSP00000143789 (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: I1191N

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 possibly damaging
Transcript: ENSMUST00000200393
AA Change: I1193N

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: I1193N

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 0.7874 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (75/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,837,337 (GRCm39) H325Q probably damaging Het
Aasdh T C 5: 77,049,772 (GRCm39) I75V probably benign Het
Abca14 G A 7: 119,826,667 (GRCm39) D438N possibly damaging Het
Abca8a T A 11: 109,980,793 (GRCm39) I82F probably benign Het
Abca8b G T 11: 109,872,543 (GRCm39) N19K probably damaging Het
Acan A G 7: 78,757,896 (GRCm39) N506S Het
Alox12e C A 11: 70,206,731 (GRCm39) R652L probably benign Het
Atad3a A G 4: 155,838,498 (GRCm39) V173A probably benign Het
Atl3 A G 19: 7,506,433 (GRCm39) K326R probably null Het
Atm G T 9: 53,423,217 (GRCm39) C636* probably null Het
Atp2c2 G A 8: 120,472,300 (GRCm39) M451I probably benign Het
Best1 A T 19: 9,969,479 (GRCm39) M193K probably benign Het
Bmper G T 9: 23,310,651 (GRCm39) G362C probably damaging Het
Brd4 T A 17: 32,444,557 (GRCm39) Y139F unknown Het
Bzw2 A T 12: 36,173,950 (GRCm39) I108N possibly damaging Het
Cbs C A 17: 31,838,191 (GRCm39) V353L probably benign Het
Ceacam20 A G 7: 19,701,678 (GRCm39) T22A probably damaging Het
Ckap2l C T 2: 129,117,436 (GRCm39) E580K probably damaging Het
Ckmt1 T C 2: 121,189,374 (GRCm39) L15P possibly damaging Het
Clec18a G T 8: 111,808,204 (GRCm39) P66H probably benign Het
Cma1 G T 14: 56,180,120 (GRCm39) T95K probably benign Het
Csmd3 A G 15: 48,320,994 (GRCm39) V272A probably damaging Het
Ctnna3 A T 10: 64,670,368 (GRCm39) E632D probably benign Het
Ctsc T C 7: 87,946,361 (GRCm39) L130P probably damaging Het
Frmpd2 A T 14: 33,229,432 (GRCm39) R339S probably damaging Het
Frrs1 C A 3: 116,674,425 (GRCm39) S69* probably null Het
Gcc2 A T 10: 58,116,416 (GRCm39) E1108D probably benign Het
Gkn1 A T 6: 87,326,135 (GRCm39) probably null Het
Gtf2a1 A T 12: 91,534,498 (GRCm39) M252K probably benign Het
H2-Ob T C 17: 34,460,234 (GRCm39) F115S probably damaging Het
Ighv1-53 T C 12: 115,122,135 (GRCm39) N80S probably benign Het
Ighv1-67 T C 12: 115,567,666 (GRCm39) K82R probably benign Het
Kmt2c A G 5: 25,549,923 (GRCm39) F1353L probably damaging Het
Luc7l C T 17: 26,472,219 (GRCm39) probably benign Het
Man1a A C 10: 53,796,331 (GRCm39) S454A possibly damaging Het
Mars2 C A 1: 55,277,222 (GRCm39) A275D probably damaging Het
Nrde2 A G 12: 100,097,178 (GRCm39) V874A probably benign Het
Ociad1 A G 5: 73,470,809 (GRCm39) T244A probably benign Het
Or10j2 A G 1: 173,097,811 (GRCm39) Y23C possibly damaging Het
Or3a10 A T 11: 73,935,589 (GRCm39) D170E possibly damaging Het
Or8c9 A T 9: 38,241,046 (GRCm39) L51F probably damaging Het
Ovca2 A G 11: 75,069,501 (GRCm39) C41R possibly damaging Het
Pacsin2 A T 15: 83,269,260 (GRCm39) D11E probably damaging Het
Pcdh15 G A 10: 74,178,441 (GRCm39) S566N possibly damaging Het
Pde3b A G 7: 114,135,297 (GRCm39) I1038M probably damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Pkhd1 T A 1: 20,593,350 (GRCm39) T1588S possibly damaging Het
Ppig A G 2: 69,580,320 (GRCm39) D618G unknown Het
Pramel17 A G 4: 101,694,565 (GRCm39) F106S probably benign Het
Prorp G A 12: 55,351,200 (GRCm39) V170M possibly damaging Het
Prss51 A T 14: 64,333,444 (GRCm39) K18* probably null Het
Ptpra T A 2: 130,386,417 (GRCm39) D622E probably damaging Het
Ptprs A T 17: 56,725,988 (GRCm39) F1431L probably benign Het
Pxdn A G 12: 30,044,479 (GRCm39) I486V probably benign Het
Rnpc3 G A 3: 113,422,004 (GRCm39) A77V probably benign Het
Rtl10 T A 16: 18,320,026 (GRCm39) C85* probably null Het
Skint10 A G 4: 112,586,170 (GRCm39) S149P probably benign Het
Slc17a8 A C 10: 89,412,275 (GRCm39) V570G probably benign Het
Slc25a42 A T 8: 70,642,148 (GRCm39) V98E probably damaging Het
Smco2 A G 6: 146,760,363 (GRCm39) E73G probably benign Het
Ss18 T C 18: 14,812,477 (GRCm39) Y38C probably damaging Het
Sspo T A 6: 48,453,540 (GRCm39) C2909* probably null Het
Tbccd1 A G 16: 22,652,747 (GRCm39) Y125H probably benign Het
Tdrd9 A G 12: 111,980,888 (GRCm39) T446A probably damaging Het
Tecta G T 9: 42,255,183 (GRCm39) Q1672K probably benign Het
Tek G C 4: 94,692,541 (GRCm39) W216C probably damaging Het
Timm17a C T 1: 135,241,313 (GRCm39) probably null Het
Tlr4 A T 4: 66,758,188 (GRCm39) H327L probably benign Het
Trim33 T C 3: 103,234,109 (GRCm39) I449T possibly damaging Het
Vmn1r57 A G 7: 5,223,559 (GRCm39) N28S probably null Het
Vmn2r117 T A 17: 23,696,177 (GRCm39) H410L probably damaging Het
Vmn2r16 A G 5: 109,508,772 (GRCm39) E500G probably damaging Het
Wif1 A G 10: 120,926,019 (GRCm39) N245S possibly 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
R7216:Ints1 UTSW 5 139,754,739 (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'- CACTCTCTTAGGCATAAAGGGAAC -3'
(R):5'- TCTGAGGTGGACTGAAGCAG -3'

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