Incidental Mutation 'R7999:Ints11'
ID 616248
Institutional Source Beutler Lab
Gene Symbol Ints11
Ensembl Gene ENSMUSG00000029034
Gene Name integrator complex subunit 11
Synonyms Cpsf3l, 2410006F12Rik
MMRRC Submission 046039-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7999 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 155954006-155973561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155971413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 309 (D309G)
Ref Sequence ENSEMBL: ENSMUSP00000030901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030901] [ENSMUST00000079031] [ENSMUST00000097737] [ENSMUST00000105584] [ENSMUST00000120794] [ENSMUST00000156460]
AlphaFold Q9CWS4
Predicted Effect probably benign
Transcript: ENSMUST00000030901
AA Change: D309G

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030901
Gene: ENSMUSG00000029034
AA Change: D309G

DomainStartEndE-ValueType
Lactamase_B 16 233 3.38e-17 SMART
Beta-Casp 245 363 6.94e-37 SMART
Pfam:RMMBL 376 418 1.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079031
SMART Domains Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
PH 265 361 6.35e-16 SMART
low complexity region 377 391 N/A INTRINSIC
ArfGap 399 521 4.62e-56 SMART
low complexity region 554 566 N/A INTRINSIC
low complexity region 601 617 N/A INTRINSIC
low complexity region 628 650 N/A INTRINSIC
low complexity region 669 686 N/A INTRINSIC
ANK 696 725 3.91e-3 SMART
ANK 729 758 2.43e1 SMART
low complexity region 781 796 N/A INTRINSIC
low complexity region 797 809 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097737
SMART Domains Protein: ENSMUSP00000095344
Gene: ENSMUSG00000051557

DomainStartEndE-ValueType
Pfam:PseudoU_synth_1 16 124 2.5e-12 PFAM
Pfam:PseudoU_synth_1 168 285 1.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105584
SMART Domains Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033

DomainStartEndE-ValueType
Pfam:BAR_3 3 236 4.1e-95 PFAM
PH 269 365 6.35e-16 SMART
low complexity region 381 395 N/A INTRINSIC
ArfGap 403 525 4.62e-56 SMART
low complexity region 558 570 N/A INTRINSIC
low complexity region 605 621 N/A INTRINSIC
low complexity region 632 654 N/A INTRINSIC
low complexity region 673 690 N/A INTRINSIC
ANK 700 729 3.91e-3 SMART
ANK 733 762 2.43e1 SMART
low complexity region 785 800 N/A INTRINSIC
low complexity region 801 813 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120794
AA Change: D287G

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112656
Gene: ENSMUSG00000029034
AA Change: D287G

DomainStartEndE-ValueType
Lactamase_B 16 211 6.42e-9 SMART
Beta-Casp 223 341 6.94e-37 SMART
Pfam:RMMBL 354 396 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156460
SMART Domains Protein: ENSMUSP00000118803
Gene: ENSMUSG00000029034

DomainStartEndE-ValueType
SCOP:d1smla_ 1 66 7e-7 SMART
PDB:2I7V|A 3 38 1e-9 PDB
Blast:Lactamase_B 16 66 4e-30 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,841,580 (GRCm39) E289G probably benign Het
Armc2 C T 10: 41,887,954 (GRCm39) E10K possibly damaging Het
Aspscr1 T C 11: 120,569,348 (GRCm39) probably null Het
B3galnt1 A G 3: 69,482,548 (GRCm39) C238R probably damaging Het
Bak1 A G 17: 27,240,280 (GRCm39) L129P probably damaging Het
Bdp1 A G 13: 100,195,404 (GRCm39) F1272L possibly damaging Het
C2cd3 G A 7: 100,109,096 (GRCm39) probably null Het
Cacna1b A T 2: 24,540,638 (GRCm39) V1363E probably damaging Het
Capn11 T C 17: 45,950,132 (GRCm39) N344S probably damaging Het
Ces1f A T 8: 93,989,623 (GRCm39) V431E possibly damaging Het
Cog3 G T 14: 75,984,533 (GRCm39) S94Y possibly damaging Het
Defa29 A T 8: 21,816,859 (GRCm39) S45T probably benign Het
Dnaaf9 C A 2: 130,579,372 (GRCm39) V753L probably benign Het
Dnah10 A G 5: 124,802,322 (GRCm39) D32G probably benign Het
Dnajc24 T A 2: 105,811,365 (GRCm39) N70I probably damaging Het
Duox2 C T 2: 122,113,948 (GRCm39) V1195I probably benign Het
Enam A T 5: 88,651,561 (GRCm39) R1023S probably benign Het
Ephx4 A T 5: 107,567,699 (GRCm39) Q219L probably damaging Het
Eppk1 T C 15: 75,993,204 (GRCm39) T1226A probably benign Het
Eppk1 T C 15: 75,993,335 (GRCm39) Q1182R probably benign Het
Fiz1 A T 7: 5,011,997 (GRCm39) S174T probably benign Het
Ggnbp1 C T 17: 27,248,619 (GRCm39) R63C probably benign Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gsdmd T A 15: 75,735,295 (GRCm39) I13N probably damaging Het
Gtpbp4 T C 13: 9,037,322 (GRCm39) D292G probably damaging Het
Hnf1a A T 5: 115,098,233 (GRCm39) L123* probably null Het
Ints5 T C 19: 8,874,407 (GRCm39) S789P probably benign Het
Jakmip2 G A 18: 43,696,398 (GRCm39) A517V probably benign Het
Kat7 A G 11: 95,174,935 (GRCm39) Y270H probably damaging Het
Kmt2b A G 7: 30,276,199 (GRCm39) S1767P probably damaging Het
Lonp2 A G 8: 87,361,537 (GRCm39) D238G probably benign Het
Lrfn3 A G 7: 30,059,449 (GRCm39) W259R probably damaging Het
Mmrn2 G A 14: 34,119,879 (GRCm39) D250N probably benign Het
Mre11a A T 9: 14,710,965 (GRCm39) R49* probably null Het
Mug1 T C 6: 121,857,855 (GRCm39) L1116P possibly damaging Het
Mup9 A G 4: 60,374,202 (GRCm39) S234P probably benign Het
Nlrp9c A G 7: 26,084,914 (GRCm39) F222L possibly damaging Het
Nr2e3 A G 9: 59,856,282 (GRCm39) V85A probably damaging Het
Or4a79 A G 2: 89,552,344 (GRCm39) I37T probably benign Het
Prl3d2 A G 13: 27,307,949 (GRCm39) T77A probably benign Het
Prpsap1 A T 11: 116,381,042 (GRCm39) M1K probably null Het
Prrc2b C T 2: 32,084,426 (GRCm39) T297M probably damaging Het
Rasa3 A G 8: 13,681,805 (GRCm39) F48S probably benign Het
Rbm24 A T 13: 46,572,507 (GRCm39) M1L possibly damaging Het
Ren1 C A 1: 133,282,604 (GRCm39) T103K probably damaging Het
Rpf2 C T 10: 40,099,880 (GRCm39) G260S probably damaging Het
Sall4 C T 2: 168,594,561 (GRCm39) G862D probably damaging Het
Samd4 G T 14: 47,301,704 (GRCm39) R336L probably damaging Het
Shoc1 G C 4: 59,094,162 (GRCm39) F187L probably benign Het
Siglec1 T C 2: 130,913,083 (GRCm39) N1611S probably benign Het
Skil A G 3: 31,151,751 (GRCm39) H91R possibly damaging Het
Snip1 T C 4: 124,965,174 (GRCm39) V193A probably benign Het
Sp2 A T 11: 96,852,663 (GRCm39) I87N probably damaging Het
Syna T C 5: 134,588,046 (GRCm39) H301R probably benign Het
Tdg A G 10: 82,477,216 (GRCm39) K89R possibly damaging Het
Tdrd7 G A 4: 46,010,902 (GRCm39) probably null Het
Trak1 G A 9: 121,289,491 (GRCm39) R601H probably damaging Het
Triobp T C 15: 78,844,144 (GRCm39) L120P probably damaging Het
Utp20 A T 10: 88,606,250 (GRCm39) N1697K probably benign Het
Uts2r G A 11: 121,051,495 (GRCm39) V120M possibly damaging Het
Vmn2r59 A G 7: 41,696,256 (GRCm39) L162P probably damaging Het
Zbtb17 G A 4: 141,189,134 (GRCm39) R18Q probably damaging Het
Zfp551 A T 7: 12,151,138 (GRCm39) C90* probably null Het
Zfp605 T A 5: 110,276,300 (GRCm39) C473S probably damaging Het
Zfp764l1 T A 7: 126,991,600 (GRCm39) S117C probably damaging Het
Zfp975 A T 7: 42,312,356 (GRCm39) Y86N probably benign Het
Other mutations in Ints11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Ints11 APN 4 155,969,583 (GRCm39) missense probably damaging 1.00
IGL01515:Ints11 APN 4 155,959,689 (GRCm39) missense probably damaging 1.00
IGL01613:Ints11 APN 4 155,969,655 (GRCm39) critical splice donor site probably null
IGL02024:Ints11 APN 4 155,972,972 (GRCm39) missense probably damaging 1.00
IGL02127:Ints11 APN 4 155,971,320 (GRCm39) missense probably damaging 1.00
IGL02850:Ints11 APN 4 155,959,761 (GRCm39) missense probably benign 0.03
IGL02926:Ints11 APN 4 155,972,568 (GRCm39) critical splice donor site probably null
IGL03296:Ints11 APN 4 155,969,780 (GRCm39) critical splice donor site probably null
IGL03357:Ints11 APN 4 155,956,581 (GRCm39) splice site probably benign
R0013:Ints11 UTSW 4 155,971,625 (GRCm39) missense probably damaging 1.00
R0013:Ints11 UTSW 4 155,971,625 (GRCm39) missense probably damaging 1.00
R0449:Ints11 UTSW 4 155,972,405 (GRCm39) missense probably benign 0.17
R0480:Ints11 UTSW 4 155,972,081 (GRCm39) missense probably damaging 1.00
R0589:Ints11 UTSW 4 155,971,343 (GRCm39) missense probably damaging 1.00
R0678:Ints11 UTSW 4 155,972,210 (GRCm39) missense probably damaging 1.00
R0865:Ints11 UTSW 4 155,971,564 (GRCm39) splice site probably null
R1135:Ints11 UTSW 4 155,972,384 (GRCm39) splice site probably null
R1466:Ints11 UTSW 4 155,972,567 (GRCm39) critical splice donor site probably null
R1466:Ints11 UTSW 4 155,972,567 (GRCm39) critical splice donor site probably null
R1658:Ints11 UTSW 4 155,972,185 (GRCm39) missense probably damaging 0.97
R1707:Ints11 UTSW 4 155,959,655 (GRCm39) missense probably benign 0.21
R2199:Ints11 UTSW 4 155,959,738 (GRCm39) missense probably benign 0.07
R2876:Ints11 UTSW 4 155,971,882 (GRCm39) unclassified probably benign
R4567:Ints11 UTSW 4 155,970,132 (GRCm39) missense probably damaging 1.00
R4900:Ints11 UTSW 4 155,972,887 (GRCm39) missense probably benign 0.01
R4964:Ints11 UTSW 4 155,971,385 (GRCm39) missense probably damaging 1.00
R4966:Ints11 UTSW 4 155,971,385 (GRCm39) missense probably damaging 1.00
R5306:Ints11 UTSW 4 155,959,665 (GRCm39) missense probably damaging 1.00
R5963:Ints11 UTSW 4 155,957,369 (GRCm39) nonsense probably null
R6246:Ints11 UTSW 4 155,972,546 (GRCm39) missense probably benign
R7285:Ints11 UTSW 4 155,970,568 (GRCm39) missense probably damaging 1.00
R7365:Ints11 UTSW 4 155,956,687 (GRCm39) splice site probably null
R7768:Ints11 UTSW 4 155,971,396 (GRCm39) missense probably damaging 0.97
R7774:Ints11 UTSW 4 155,970,140 (GRCm39) missense probably benign 0.00
R8103:Ints11 UTSW 4 155,972,687 (GRCm39) missense possibly damaging 0.93
R8785:Ints11 UTSW 4 155,954,165 (GRCm39) missense probably benign 0.17
R8825:Ints11 UTSW 4 155,969,587 (GRCm39) nonsense probably null
Z1088:Ints11 UTSW 4 155,971,427 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- ACATACTGACTGGGTTGGTG -3'
(R):5'- AAGATTTGCAGGGATTGGCC -3'

Sequencing Primer
(F):5'- ACTGGGTTGGTGGACACAC -3'
(R):5'- ATCCCAGGTGTGGCAAAC -3'
Posted On 2020-01-23