Incidental Mutation 'IGL01984:Ints3'
ID181836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ints3
Ensembl Gene ENSMUSG00000027933
Gene Nameintegrator complex subunit 3
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL01984
Quality Score
Status
Chromosome3
Chromosomal Location90391388-90433622 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90392226 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 1012 (S1012P)
Ref Sequence ENSEMBL: ENSMUSP00000071422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029541] [ENSMUST00000029542] [ENSMUST00000071488] [ENSMUST00000196530]
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 possibly damaging
Transcript: ENSMUST00000029542
AA Change: S1012P

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: S1012P

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 possibly damaging
Transcript: ENSMUST00000071488
AA Change: S1012P

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: S1012P

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 noncoding transcript
Transcript: ENSMUST00000153978
Predicted Effect unknown
Transcript: ENSMUST00000196530
AA Change: S1012P
SMART Domains Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: S1012P

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: ENSMUST00000198776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199992
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 90,063,230 L24F probably benign Het
Adamts16 T C 13: 70,787,147 D442G probably damaging Het
Ankmy1 T C 1: 92,883,765 T634A probably damaging Het
Anxa3 A T 5: 96,834,771 probably benign Het
Ccnh T C 13: 85,206,151 L202P probably damaging Het
Clcn3 A T 8: 60,929,580 S325T probably damaging Het
Clec2d A T 6: 129,184,229 E96D possibly damaging Het
Csn1s1 A T 5: 87,676,510 probably benign Het
Dcun1d5 T A 9: 7,205,307 Y189N possibly damaging Het
Dnah7a T C 1: 53,702,015 probably null Het
Erg T G 16: 95,409,927 D15A probably damaging Het
Gm11639 T A 11: 104,738,308 D937E probably benign Het
Gm17018 C T 19: 45,577,030 H148Y probably benign Het
Gm21759 T A 5: 8,180,547 probably benign Het
Heatr5b C T 17: 78,796,497 R1083Q possibly damaging Het
Klhl3 C T 13: 58,011,243 probably benign Het
Lama4 T A 10: 39,075,529 probably null Het
Magi1 A T 6: 93,708,174 V740D probably damaging Het
Nme8 C A 13: 19,688,980 V165L probably damaging Het
Odf2l G T 3: 145,139,829 E5* probably null Het
Olfr115 T C 17: 37,623,661 probably benign Het
Olfr1297 A G 2: 111,621,582 L164S probably benign Het
Olfr683 A T 7: 105,143,716 D192E probably benign Het
Pcnx4 T C 12: 72,574,409 V1001A probably benign Het
Plaa A G 4: 94,571,685 probably null Het
Prkdc G A 16: 15,708,779 A1305T probably benign Het
Rnps1 T C 17: 24,424,397 probably benign Het
St8sia5 T C 18: 77,248,461 F197L probably benign Het
Sult3a1 G T 10: 33,879,209 G257* probably null Het
Svep1 A C 4: 58,068,877 Y2970D possibly damaging Het
Tns3 G T 11: 8,548,992 Y30* probably null Het
Ubr1 G T 2: 120,921,386 P791T probably damaging Het
Zfp592 T C 7: 81,038,644 V1039A probably benign Het
Other mutations in Ints3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Ints3 APN 3 90406329 missense probably damaging 1.00
IGL01339:Ints3 APN 3 90415156 critical splice donor site probably null
IGL01398:Ints3 APN 3 90392823 missense probably damaging 1.00
IGL01599:Ints3 APN 3 90394322 critical splice donor site probably null
IGL01864:Ints3 APN 3 90415179 missense probably benign 0.33
IGL02325:Ints3 APN 3 90404042 missense probably damaging 1.00
IGL02516:Ints3 APN 3 90403108 missense probably damaging 1.00
IGL02867:Ints3 APN 3 90392836 missense probably damaging 1.00
IGL02889:Ints3 APN 3 90392836 missense probably damaging 1.00
IGL02975:Ints3 APN 3 90401837 splice site probably benign
PIT4431001:Ints3 UTSW 3 90396460 missense probably damaging 0.99
R0003:Ints3 UTSW 3 90408511 missense probably benign 0.00
R0003:Ints3 UTSW 3 90408511 missense probably benign 0.00
R0069:Ints3 UTSW 3 90400647 splice site probably benign
R0069:Ints3 UTSW 3 90400647 splice site probably benign
R1450:Ints3 UTSW 3 90432828 missense probably damaging 1.00
R1985:Ints3 UTSW 3 90400303 critical splice donor site probably null
R2324:Ints3 UTSW 3 90394094 missense probably damaging 1.00
R2425:Ints3 UTSW 3 90394110 missense possibly damaging 0.91
R2920:Ints3 UTSW 3 90393162 missense probably benign 0.22
R3937:Ints3 UTSW 3 90403987 nonsense probably null
R4678:Ints3 UTSW 3 90408510 missense possibly damaging 0.47
R4679:Ints3 UTSW 3 90408510 missense possibly damaging 0.47
R4719:Ints3 UTSW 3 90415521 missense probably benign 0.20
R4726:Ints3 UTSW 3 90393777 missense probably damaging 1.00
R4993:Ints3 UTSW 3 90415507 missense probably benign 0.05
R5154:Ints3 UTSW 3 90415561 missense probably benign 0.01
R5243:Ints3 UTSW 3 90401144 frame shift probably null
R5454:Ints3 UTSW 3 90408527 missense possibly damaging 0.72
R5678:Ints3 UTSW 3 90403548 missense probably damaging 0.99
R6123:Ints3 UTSW 3 90413554 missense probably benign 0.01
R6548:Ints3 UTSW 3 90392124 unclassified probably benign
R6916:Ints3 UTSW 3 90406334 missense probably damaging 1.00
R7265:Ints3 UTSW 3 90403983 critical splice donor site probably null
R7332:Ints3 UTSW 3 90415512 missense probably damaging 0.98
R7699:Ints3 UTSW 3 90421804 missense probably benign 0.00
R7700:Ints3 UTSW 3 90421804 missense probably benign 0.00
Posted On2014-05-07