Incidental Mutation 'R4608:Ints1'
ID 350876
Institutional Source Beutler Lab
Gene Symbol Ints1
Ensembl Gene ENSMUSG00000029547
Gene Name integrator complex subunit 1
Synonyms 1110015K06Rik
MMRRC Submission 041819-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4608 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139737037-139761429 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 139745599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 1353 (S1353N)
Ref Sequence ENSEMBL: ENSMUSP00000072406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072607] [ENSMUST00000197187] [ENSMUST00000200393]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000072607
AA Change: S1353N

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: S1353N

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: ENSMUST00000197187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198615
Predicted Effect probably benign
Transcript: ENSMUST00000200393
AA Change: S1355N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: S1355N

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 0.0594 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (80/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik A G 11: 109,308,855 (GRCm39) I74V unknown Het
Acss3 T A 10: 106,802,890 (GRCm39) I452F possibly damaging Het
Adam10 T C 9: 70,651,173 (GRCm39) L66P probably damaging Het
Adamts18 A T 8: 114,464,245 (GRCm39) C738S probably damaging Het
Adamts7 T G 9: 90,056,593 (GRCm39) S221A probably damaging Het
Adrm1 A G 2: 179,816,648 (GRCm39) probably benign Het
Aqp1 T C 6: 55,313,624 (GRCm39) V50A possibly damaging Het
Aqp4 T C 18: 15,531,183 (GRCm39) I193V probably benign Het
B130006D01Rik A T 11: 95,617,066 (GRCm39) probably benign Het
Bbs10 T G 10: 111,136,681 (GRCm39) I598S probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Ccdc121rt2 A G 5: 112,597,764 (GRCm39) S104G possibly damaging Het
Ccnl1 C T 3: 65,854,131 (GRCm39) probably benign Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcdc2a T A 13: 25,245,223 (GRCm39) L100* probably null Het
Eif4g3 G T 4: 137,853,769 (GRCm39) R618L probably benign Het
F5 C T 1: 164,036,598 (GRCm39) P1920S probably benign Het
Fam187b T A 7: 30,677,170 (GRCm39) N226K probably benign Het
Fancc C A 13: 63,479,637 (GRCm39) probably benign Het
Fastk G T 5: 24,648,117 (GRCm39) P233H probably damaging Het
Fbn1 A C 2: 125,148,420 (GRCm39) D2609E probably benign Het
Fes G A 7: 80,036,959 (GRCm39) R42W probably damaging Het
Fmnl2 T A 2: 52,993,728 (GRCm39) N374K possibly damaging Het
Fpgt G A 3: 154,792,333 (GRCm39) Q565* probably null Het
Gckr A G 5: 31,465,141 (GRCm39) D370G probably damaging Het
Ggt6 T C 11: 72,328,769 (GRCm39) M385T probably benign Het
Gm26657 C A 4: 56,741,114 (GRCm39) H100N probably benign Het
Gsg1l T A 7: 125,557,721 (GRCm39) I136F probably damaging Het
Hhip C T 8: 80,724,192 (GRCm39) R350Q probably damaging Het
Ints10 G A 8: 69,263,271 (GRCm39) R394Q probably damaging Het
Ints6 T G 14: 62,940,678 (GRCm39) R557S probably damaging Het
Ints9 T A 14: 65,269,729 (GRCm39) I473N possibly damaging Het
Itih4 G A 14: 30,623,626 (GRCm39) G915R probably damaging Het
Kif1a C A 1: 92,952,368 (GRCm39) A1304S possibly damaging Het
Kif21b C T 1: 136,075,924 (GRCm39) probably benign Het
Klk13 C A 7: 43,363,284 (GRCm39) C10* probably null Het
Krtap4-8 C T 11: 99,671,321 (GRCm39) probably benign Het
Lef1 T C 3: 130,978,382 (GRCm39) S167P probably benign Het
Leng8 T A 7: 4,147,796 (GRCm39) I607N probably damaging Het
Lrch4 T A 5: 137,637,408 (GRCm39) L526* probably null Het
Memo1 G A 17: 74,565,456 (GRCm39) Q36* probably null Het
Nod1 C A 6: 54,920,741 (GRCm39) A526S probably damaging Het
Nostrin G A 2: 69,014,243 (GRCm39) V400M possibly damaging Het
Nrip1 T C 16: 76,089,920 (GRCm39) T546A probably benign Het
Nxf1 A G 19: 8,740,127 (GRCm39) D98G probably benign Het
Or13a24 A G 7: 140,154,554 (GRCm39) M163V probably benign Het
Or1l4 T A 2: 37,092,094 (GRCm39) Y280* probably null Het
Or2h2b-ps1 A T 17: 37,481,173 (GRCm39) V20E probably damaging Het
Or2t1 A G 14: 14,328,887 (GRCm38) M259V probably benign Het
Or4c114 G T 2: 88,904,656 (GRCm39) P260T probably benign Het
Or6aa1 A T 7: 86,043,718 (GRCm39) probably null Het
Osgep T C 14: 51,155,378 (GRCm39) Y60C probably damaging Het
P2ry6 A G 7: 100,587,511 (GRCm39) Y283H probably damaging Het
Pcdha7 A T 18: 37,108,870 (GRCm39) S632C possibly damaging Het
Pms1 T A 1: 53,234,097 (GRCm39) R806S possibly damaging Het
Qars1 T A 9: 108,386,625 (GRCm39) probably null Het
Rxfp1 T C 3: 79,594,196 (GRCm39) N66S probably damaging Het
Slc12a5 A T 2: 164,815,685 (GRCm39) N67I probably damaging Het
Slc1a4 G T 11: 20,254,348 (GRCm39) T506K probably damaging Het
Stimate C A 14: 30,594,490 (GRCm39) probably benign Het
Tlr9 T A 9: 106,102,173 (GRCm39) I488N probably damaging Het
Tmem74 G T 15: 43,730,554 (GRCm39) T163K probably damaging Het
Uba2 T C 7: 33,854,021 (GRCm39) D307G probably damaging Het
Uty C T Y: 1,131,134 (GRCm39) R924Q probably damaging Het
Wdr7 C T 18: 63,910,651 (GRCm39) T681I probably benign Het
Xab2 A G 8: 3,668,105 (GRCm39) S158P probably benign Het
Ythdc1 T C 5: 86,970,667 (GRCm39) S418P probably damaging Het
Zfand4 T A 6: 116,305,195 (GRCm39) C207* probably null Het
Zfp367 C T 13: 64,283,238 (GRCm39) D305N probably damaging Het
Zfp804b C T 5: 6,822,584 (GRCm39) V160I 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
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'- ATAGTGGCCAGACACACATG -3'
(R):5'- TACATCTTACTGCCCGAGCTG -3'

Sequencing Primer
(F):5'- TGTCACGAGTCACATGCAG -3'
(R):5'- CGAGCTGGACCGCTTTTG -3'
Posted On 2015-10-08