Incidental Mutation 'R4726:Ints3'
ID 358445
Institutional Source Beutler Lab
Gene Symbol Ints3
Ensembl Gene ENSMUSG00000027933
Gene Name integrator complex subunit 3
Synonyms
MMRRC Submission 041989-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R4726 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90298695-90340929 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90301084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 840 (S840P)
Ref Sequence ENSEMBL: ENSMUSP00000071422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029541] [ENSMUST00000029542] [ENSMUST00000071488] [ENSMUST00000196530]
AlphaFold Q7TPD0
Predicted Effect probably benign
Transcript: ENSMUST00000029541
SMART Domains Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 38 56 N/A INTRINSIC
Pfam:AMP-binding 138 535 9.2e-62 PFAM
Pfam:AMP-binding_C 543 619 9.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000029542
AA Change: S840P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: S840P

DomainStartEndE-ValueType
low complexity region 11 33 N/A INTRINSIC
Pfam:DUF2356 269 493 6e-110 PFAM
low complexity region 557 568 N/A INTRINSIC
low complexity region 632 647 N/A INTRINSIC
low complexity region 666 678 N/A INTRINSIC
coiled coil region 913 940 N/A INTRINSIC
low complexity region 1006 1019 N/A INTRINSIC
low complexity region 1021 1031 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000071488
AA Change: S840P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: S840P

DomainStartEndE-ValueType
low complexity region 11 33 N/A INTRINSIC
Pfam:DUF2356 269 493 6e-110 PFAM
low complexity region 557 568 N/A INTRINSIC
low complexity region 632 647 N/A INTRINSIC
low complexity region 666 678 N/A INTRINSIC
coiled coil region 913 940 N/A INTRINSIC
low complexity region 1006 1019 N/A INTRINSIC
low complexity region 1021 1031 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127064
Predicted Effect probably benign
Transcript: ENSMUST00000132041
SMART Domains Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932

DomainStartEndE-ValueType
low complexity region 40 64 N/A INTRINSIC
low complexity region 68 89 N/A INTRINSIC
low complexity region 91 106 N/A INTRINSIC
Pfam:AMP-binding 147 501 5.3e-50 PFAM
Pfam:AMP-binding_C 509 585 2.9e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144572
Predicted Effect probably damaging
Transcript: ENSMUST00000196530
AA Change: S840P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: S840P

DomainStartEndE-ValueType
low complexity region 11 33 N/A INTRINSIC
Pfam:DUF2356 268 497 5.7e-114 PFAM
low complexity region 557 568 N/A INTRINSIC
low complexity region 632 647 N/A INTRINSIC
low complexity region 666 678 N/A INTRINSIC
coiled coil region 913 940 N/A INTRINSIC
low complexity region 1006 1018 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198776
Meta Mutation Damage Score 0.1968 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T C 17: 65,141,448 (GRCm39) S52G probably null Het
Abcc2 T C 19: 43,820,553 (GRCm39) S1351P probably benign Het
Acp2 T A 2: 91,034,622 (GRCm39) L87Q probably damaging Het
Adgrl3 C A 5: 81,794,425 (GRCm39) T550K possibly damaging Het
Amotl2 A G 9: 102,601,018 (GRCm39) R329G probably benign Het
Angel1 T C 12: 86,768,649 (GRCm39) N278S probably damaging Het
Ankrd12 A C 17: 66,277,319 (GRCm39) M1985R probably damaging Het
Apob T A 12: 8,040,267 (GRCm39) F535I probably damaging Het
Art3 A G 5: 92,559,002 (GRCm39) K313R probably benign Het
Asxl2 C T 12: 3,551,872 (GRCm39) H1205Y possibly damaging Het
Bsph1 A T 7: 13,206,920 (GRCm39) M99L probably benign Het
Ccdc153 T C 9: 44,154,963 (GRCm39) probably null Het
Cdh16 A T 8: 105,342,664 (GRCm39) M28K probably damaging Het
Cdhr2 T C 13: 54,866,352 (GRCm39) F353L probably damaging Het
Chrna2 G T 14: 66,386,345 (GRCm39) V164L possibly damaging Het
Cip2a A G 16: 48,834,433 (GRCm39) T672A probably benign Het
Ckmt1 T C 2: 121,191,712 (GRCm39) probably null Het
Col25a1 A T 3: 130,313,430 (GRCm39) E280V possibly damaging Het
Dnajc12 A G 10: 63,233,087 (GRCm39) D76G probably damaging Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Ecpas A G 4: 58,844,191 (GRCm39) V525A probably damaging Het
Ehbp1l1 C A 19: 5,769,204 (GRCm39) A700S possibly damaging Het
Gab1 T C 8: 81,515,682 (GRCm39) D212G possibly damaging Het
Gm26996 A G 6: 130,557,134 (GRCm39) noncoding transcript Het
Gm28113 A G 15: 75,198,577 (GRCm39) noncoding transcript Het
Has3 T C 8: 107,604,718 (GRCm39) F308S probably damaging Het
Ifit3b T A 19: 34,588,860 (GRCm39) I12N probably benign Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Itih4 T C 14: 30,611,792 (GRCm39) V132A probably damaging Het
Itprid2 T A 2: 79,493,101 (GRCm39) I1216N probably damaging Het
Kcnj10 A G 1: 172,196,639 (GRCm39) Y51C probably damaging Het
Klk1b24 G A 7: 43,839,820 (GRCm39) V60I probably damaging Het
Klra14-ps C A 6: 130,134,626 (GRCm39) noncoding transcript Het
Krt6b A G 15: 101,586,520 (GRCm39) I323T probably damaging Het
Lilra5 A C 7: 4,240,957 (GRCm39) Q17P probably benign Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Map3k4 T C 17: 12,451,851 (GRCm39) N1479S possibly damaging Het
Mbd3l2 A T 9: 18,356,256 (GRCm39) I194F probably damaging Het
Megf10 T C 18: 57,420,864 (GRCm39) I834T probably benign Het
Mterf4 G A 1: 93,229,471 (GRCm39) T251M probably damaging Het
Mtmr3 A T 11: 4,457,634 (GRCm39) D170E probably damaging Het
Myom3 C T 4: 135,534,586 (GRCm39) probably null Het
Nemp1 G A 10: 127,530,462 (GRCm39) V305I probably benign Het
Nlrp1b G T 11: 71,072,232 (GRCm39) T537K probably benign Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5b3 T A 19: 13,388,469 (GRCm39) C179S probably damaging Het
Or6c206 A G 10: 129,097,045 (GRCm39) T72A possibly damaging Het
Or8k28 A G 2: 86,286,580 (GRCm39) F12L possibly damaging Het
Pias1 A G 9: 62,827,771 (GRCm39) V212A probably damaging Het
Plscr1 T A 9: 92,145,221 (GRCm39) V77D probably damaging Het
Plxna1 T C 6: 89,299,798 (GRCm39) N1657S probably damaging Het
Ptprf A G 4: 118,069,414 (GRCm39) V1551A possibly damaging Het
Ptprn2 C A 12: 117,211,393 (GRCm39) Y857* probably null Het
Puf60 A T 15: 75,944,183 (GRCm39) probably null Het
Rnf20 C T 4: 49,654,579 (GRCm39) R879* probably null Het
Robo1 G A 16: 72,768,931 (GRCm39) A499T probably damaging Het
Slc39a14 A G 14: 70,551,048 (GRCm39) probably null Het
Smarcad1 A T 6: 65,052,025 (GRCm39) H6L probably damaging Het
Smg5 A G 3: 88,243,758 (GRCm39) S10G possibly damaging Het
Stk39 T A 2: 68,093,647 (GRCm39) D488V probably damaging Het
Stx19 A G 16: 62,642,495 (GRCm39) N104D probably benign Het
Tcstv1b A T 13: 120,635,173 (GRCm39) S152C possibly damaging Het
Tmem222 T C 4: 133,004,975 (GRCm39) M21V probably benign Het
Trim43b T A 9: 88,971,538 (GRCm39) N205I possibly damaging Het
Ubr4 C A 4: 139,209,890 (GRCm39) H5017N possibly damaging Het
Vmn2r93 A G 17: 18,536,960 (GRCm39) T548A probably damaging Het
Vps8 G A 16: 21,267,154 (GRCm39) probably null Het
Wasl A G 6: 24,633,110 (GRCm39) V176A probably benign Het
Wbp2nl T A 15: 82,190,255 (GRCm39) V61E probably damaging Het
Zfp959 T A 17: 56,205,260 (GRCm39) probably null Het
Zmiz1 T C 14: 25,644,098 (GRCm39) probably null Het
Other mutations in Ints3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Ints3 APN 3 90,313,636 (GRCm39) missense probably damaging 1.00
IGL01339:Ints3 APN 3 90,322,463 (GRCm39) critical splice donor site probably null
IGL01398:Ints3 APN 3 90,300,130 (GRCm39) missense probably damaging 1.00
IGL01599:Ints3 APN 3 90,301,629 (GRCm39) critical splice donor site probably null
IGL01864:Ints3 APN 3 90,322,486 (GRCm39) missense probably benign 0.33
IGL01984:Ints3 APN 3 90,299,533 (GRCm39) missense possibly damaging 0.79
IGL02325:Ints3 APN 3 90,311,349 (GRCm39) missense probably damaging 1.00
IGL02516:Ints3 APN 3 90,310,415 (GRCm39) missense probably damaging 1.00
IGL02867:Ints3 APN 3 90,300,143 (GRCm39) missense probably damaging 1.00
IGL02889:Ints3 APN 3 90,300,143 (GRCm39) missense probably damaging 1.00
IGL02975:Ints3 APN 3 90,309,144 (GRCm39) splice site probably benign
PIT4431001:Ints3 UTSW 3 90,303,767 (GRCm39) missense probably damaging 0.99
R0003:Ints3 UTSW 3 90,315,818 (GRCm39) missense probably benign 0.00
R0003:Ints3 UTSW 3 90,315,818 (GRCm39) missense probably benign 0.00
R0069:Ints3 UTSW 3 90,307,954 (GRCm39) splice site probably benign
R0069:Ints3 UTSW 3 90,307,954 (GRCm39) splice site probably benign
R1450:Ints3 UTSW 3 90,340,135 (GRCm39) missense probably damaging 1.00
R1985:Ints3 UTSW 3 90,307,610 (GRCm39) critical splice donor site probably null
R2324:Ints3 UTSW 3 90,301,401 (GRCm39) missense probably damaging 1.00
R2425:Ints3 UTSW 3 90,301,417 (GRCm39) missense possibly damaging 0.91
R2920:Ints3 UTSW 3 90,300,469 (GRCm39) missense probably benign 0.22
R3937:Ints3 UTSW 3 90,311,294 (GRCm39) nonsense probably null
R4678:Ints3 UTSW 3 90,315,817 (GRCm39) missense possibly damaging 0.47
R4679:Ints3 UTSW 3 90,315,817 (GRCm39) missense possibly damaging 0.47
R4719:Ints3 UTSW 3 90,322,828 (GRCm39) missense probably benign 0.20
R4993:Ints3 UTSW 3 90,322,814 (GRCm39) missense probably benign 0.05
R5154:Ints3 UTSW 3 90,322,868 (GRCm39) missense probably benign 0.01
R5243:Ints3 UTSW 3 90,308,451 (GRCm39) frame shift probably null
R5454:Ints3 UTSW 3 90,315,834 (GRCm39) missense possibly damaging 0.72
R5678:Ints3 UTSW 3 90,310,855 (GRCm39) missense probably damaging 0.99
R6123:Ints3 UTSW 3 90,320,861 (GRCm39) missense probably benign 0.01
R6548:Ints3 UTSW 3 90,299,431 (GRCm39) unclassified probably benign
R6916:Ints3 UTSW 3 90,313,641 (GRCm39) missense probably damaging 1.00
R7265:Ints3 UTSW 3 90,311,290 (GRCm39) critical splice donor site probably null
R7332:Ints3 UTSW 3 90,322,819 (GRCm39) missense probably damaging 0.98
R7699:Ints3 UTSW 3 90,329,111 (GRCm39) missense probably benign 0.00
R7700:Ints3 UTSW 3 90,329,111 (GRCm39) missense probably benign 0.00
R7790:Ints3 UTSW 3 90,307,720 (GRCm39) missense probably benign 0.09
R7827:Ints3 UTSW 3 90,331,319 (GRCm39) missense probably benign 0.11
R7915:Ints3 UTSW 3 90,340,132 (GRCm39) missense probably benign 0.06
R8118:Ints3 UTSW 3 90,307,606 (GRCm39) splice site probably null
R8119:Ints3 UTSW 3 90,299,607 (GRCm39) missense probably damaging 0.97
R8193:Ints3 UTSW 3 90,307,929 (GRCm39) missense possibly damaging 0.82
R8468:Ints3 UTSW 3 90,313,560 (GRCm39) missense probably damaging 0.96
R9240:Ints3 UTSW 3 90,310,410 (GRCm39) missense possibly damaging 0.82
R9260:Ints3 UTSW 3 90,308,468 (GRCm39) missense probably damaging 0.99
R9486:Ints3 UTSW 3 90,313,579 (GRCm39) nonsense probably null
R9634:Ints3 UTSW 3 90,318,606 (GRCm39) missense
R9656:Ints3 UTSW 3 90,299,839 (GRCm39) missense probably null 0.01
R9744:Ints3 UTSW 3 90,318,605 (GRCm39) missense probably damaging 1.00
Z1177:Ints3 UTSW 3 90,313,663 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTCAGGGTGATGAAGGC -3'
(R):5'- CTGAACAGAGAACCAGGCCTAG -3'

Sequencing Primer
(F):5'- ATGAAGGCAGCTGTGGTCC -3'
(R):5'- GCCTAGCAGCTGAAGACTG -3'
Posted On 2015-11-11