Incidental Mutation 'IGL03280:Rint1'
ID 415563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rint1
Ensembl Gene ENSMUSG00000028999
Gene Name RAD50 interactor 1
Synonyms 2810450M21Rik, 1500019C06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03280
Quality Score
Status
Chromosome 5
Chromosomal Location 23787711-23820369 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23817078 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 646 (L646Q)
Ref Sequence ENSEMBL: ENSMUSP00000110766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030852] [ENSMUST00000115113]
AlphaFold Q8BZ36
Predicted Effect probably damaging
Transcript: ENSMUST00000030852
AA Change: L704Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999
AA Change: L704Q

DomainStartEndE-ValueType
Pfam:RINT1_TIP1 304 784 2.3e-135 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115113
AA Change: L646Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110766
Gene: ENSMUSG00000028999
AA Change: L646Q

DomainStartEndE-ValueType
Pfam:RINT1_TIP1 246 727 1.2e-161 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144709
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a mutant allele exhibit early embryonic lethality. Mice heterozygous for a mutant allele exhibit premature death with a life span of 24 months and increased multiple tumor incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb4 T C 6: 5,423,416 S188P probably benign Het
Bbs5 A G 2: 69,666,971 probably benign Het
Ccdc36 T C 9: 108,404,900 S530G possibly damaging Het
Cdh13 G T 8: 119,314,134 G693W probably damaging Het
Cdh7 T A 1: 110,108,768 Y559* probably null Het
Cemip G A 7: 83,987,330 probably benign Het
Crem A G 18: 3,273,415 probably benign Het
Crygf A G 1: 65,928,170 Y151C probably damaging Het
Dcp1b T C 6: 119,180,058 probably benign Het
Fanca A G 8: 123,316,459 probably benign Het
Fkbp15 A C 4: 62,303,267 probably benign Het
Gabrp C T 11: 33,552,616 R416Q probably benign Het
Gm13103 A T 4: 143,851,919 T250S possibly damaging Het
Impg2 T A 16: 56,268,268 Y1052* probably null Het
Isg15 T C 4: 156,199,862 M70V probably benign Het
Krit1 T A 5: 3,811,248 probably benign Het
Lrrn3 T C 12: 41,454,147 D57G probably damaging Het
Macrod1 A G 19: 7,197,572 E309G possibly damaging Het
Notch1 A T 2: 26,477,874 probably benign Het
Nptx1 T C 11: 119,544,729 T254A probably damaging Het
Olfr1121 A T 2: 87,372,123 D197V probably damaging Het
Pigm A G 1: 172,376,853 Y52C probably damaging Het
Rif1 A G 2: 52,112,599 T2022A probably benign Het
Rpe65 A T 3: 159,604,341 I84F probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Scnn1a T C 6: 125,342,781 probably benign Het
Selenop T C 15: 3,280,622 probably benign Het
Siglecf T G 7: 43,355,930 V438G probably benign Het
St8sia4 T A 1: 95,653,774 probably benign Het
Tfeb T C 17: 47,785,937 F43S probably benign Het
Tgm6 A G 2: 130,138,931 Y216C probably damaging Het
Try10 T A 6: 41,354,220 V10E probably benign Het
Ttn A T 2: 76,898,467 C1234* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Usp24 T G 4: 106,380,430 I1095R probably damaging Het
Usp34 C T 11: 23,354,897 H377Y probably damaging Het
Other mutations in Rint1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Rint1 APN 5 23794431 missense probably benign 0.00
IGL00596:Rint1 APN 5 23811865 missense probably damaging 0.99
IGL01685:Rint1 APN 5 23787834 unclassified probably benign
IGL02428:Rint1 APN 5 23794452 nonsense probably null
IGL03007:Rint1 APN 5 23815701 missense probably benign 0.00
breakage UTSW 5 23800722 missense probably damaging 0.99
IGL02799:Rint1 UTSW 5 23819480 missense possibly damaging 0.93
R0062:Rint1 UTSW 5 23787828 unclassified probably benign
R0243:Rint1 UTSW 5 23816932 splice site probably benign
R1102:Rint1 UTSW 5 23805567 splice site probably benign
R1552:Rint1 UTSW 5 23800658 missense probably benign 0.00
R1729:Rint1 UTSW 5 23809843 missense probably benign 0.00
R1784:Rint1 UTSW 5 23809843 missense probably benign 0.00
R2070:Rint1 UTSW 5 23810929 missense possibly damaging 0.94
R2920:Rint1 UTSW 5 23805402 missense probably benign 0.00
R3114:Rint1 UTSW 5 23819420 missense probably benign 0.27
R4398:Rint1 UTSW 5 23794447 missense possibly damaging 0.55
R4756:Rint1 UTSW 5 23809793 missense probably damaging 1.00
R5246:Rint1 UTSW 5 23800811 missense probably damaging 0.99
R5452:Rint1 UTSW 5 23794365 missense probably benign 0.01
R5566:Rint1 UTSW 5 23810953 missense probably damaging 1.00
R5709:Rint1 UTSW 5 23815833 missense probably damaging 0.98
R6524:Rint1 UTSW 5 23815739 missense probably benign 0.00
R7346:Rint1 UTSW 5 23815653 missense possibly damaging 0.82
R7549:Rint1 UTSW 5 23815704 missense probably benign
R7634:Rint1 UTSW 5 23805479 missense probably benign 0.00
R7647:Rint1 UTSW 5 23800802 missense probably damaging 1.00
R7885:Rint1 UTSW 5 23805644 missense probably benign
R7895:Rint1 UTSW 5 23800722 missense probably damaging 0.99
R8347:Rint1 UTSW 5 23811772 missense probably damaging 1.00
R8791:Rint1 UTSW 5 23800596 missense probably damaging 0.99
R8900:Rint1 UTSW 5 23811884 missense possibly damaging 0.77
R8916:Rint1 UTSW 5 23787828 unclassified probably benign
R8973:Rint1 UTSW 5 23811730 missense probably benign 0.00
R9245:Rint1 UTSW 5 23805413 missense probably benign
R9339:Rint1 UTSW 5 23788357 makesense probably null
R9630:Rint1 UTSW 5 23815812 missense possibly damaging 0.82
R9718:Rint1 UTSW 5 23800723 missense possibly damaging 0.53
Z1088:Rint1 UTSW 5 23805314 missense probably benign 0.00
Posted On 2016-08-02