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 1500019C06Rik, 2810450M21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03280
Quality Score
Chromosome 5
Chromosomal Location 23992709-24025367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24022076 bp (GRCm39)
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

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

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 (GRCm39) S188P probably benign Het
Bbs5 A G 2: 69,497,315 (GRCm39) probably benign Het
Cdh13 G T 8: 120,040,873 (GRCm39) G693W probably damaging Het
Cdh20 T A 1: 110,036,498 (GRCm39) Y559* probably null Het
Cemip G A 7: 83,636,538 (GRCm39) probably benign Het
Crem A G 18: 3,273,415 (GRCm39) probably benign Het
Crygf A G 1: 65,967,329 (GRCm39) Y151C probably damaging Het
Dcp1b T C 6: 119,157,019 (GRCm39) probably benign Het
Fanca A G 8: 124,043,198 (GRCm39) probably benign Het
Fkbp15 A C 4: 62,221,504 (GRCm39) probably benign Het
Gabrp C T 11: 33,502,616 (GRCm39) R416Q probably benign Het
Iho1 T C 9: 108,282,099 (GRCm39) S530G possibly damaging Het
Impg2 T A 16: 56,088,631 (GRCm39) Y1052* probably null Het
Isg15 T C 4: 156,284,319 (GRCm39) M70V probably benign Het
Krit1 T A 5: 3,861,248 (GRCm39) probably benign Het
Lrrn3 T C 12: 41,504,146 (GRCm39) D57G probably damaging Het
Macrod1 A G 19: 7,174,937 (GRCm39) E309G possibly damaging Het
Notch1 A T 2: 26,367,886 (GRCm39) probably benign Het
Nptx1 T C 11: 119,435,555 (GRCm39) T254A probably damaging Het
Or12e9 A T 2: 87,202,467 (GRCm39) D197V probably damaging Het
Pigm A G 1: 172,204,420 (GRCm39) Y52C probably damaging Het
Pramel27 A T 4: 143,578,489 (GRCm39) T250S possibly damaging Het
Rif1 A G 2: 52,002,611 (GRCm39) T2022A probably benign Het
Rpe65 A T 3: 159,309,978 (GRCm39) I84F probably damaging Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Scnn1a T C 6: 125,319,744 (GRCm39) probably benign Het
Selenop T C 15: 3,310,104 (GRCm39) probably benign Het
Siglecf T G 7: 43,005,354 (GRCm39) V438G probably benign Het
St8sia4 T A 1: 95,581,499 (GRCm39) probably benign Het
Tfeb T C 17: 48,096,862 (GRCm39) F43S probably benign Het
Tgm6 A G 2: 129,980,851 (GRCm39) Y216C probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A T 2: 76,728,811 (GRCm39) C1234* probably null Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Usp24 T G 4: 106,237,627 (GRCm39) I1095R probably damaging Het
Usp34 C T 11: 23,304,897 (GRCm39) H377Y probably damaging Het
Other mutations in Rint1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Rint1 APN 5 23,999,429 (GRCm39) missense probably benign 0.00
IGL00596:Rint1 APN 5 24,016,863 (GRCm39) missense probably damaging 0.99
IGL01685:Rint1 APN 5 23,992,832 (GRCm39) unclassified probably benign
IGL02428:Rint1 APN 5 23,999,450 (GRCm39) nonsense probably null
IGL03007:Rint1 APN 5 24,020,699 (GRCm39) missense probably benign 0.00
breakage UTSW 5 24,005,720 (GRCm39) missense probably damaging 0.99
IGL02799:Rint1 UTSW 5 24,024,478 (GRCm39) missense possibly damaging 0.93
R0062:Rint1 UTSW 5 23,992,826 (GRCm39) unclassified probably benign
R0243:Rint1 UTSW 5 24,021,930 (GRCm39) splice site probably benign
R1102:Rint1 UTSW 5 24,010,565 (GRCm39) splice site probably benign
R1552:Rint1 UTSW 5 24,005,656 (GRCm39) missense probably benign 0.00
R1729:Rint1 UTSW 5 24,014,841 (GRCm39) missense probably benign 0.00
R1784:Rint1 UTSW 5 24,014,841 (GRCm39) missense probably benign 0.00
R2070:Rint1 UTSW 5 24,015,927 (GRCm39) missense possibly damaging 0.94
R2920:Rint1 UTSW 5 24,010,400 (GRCm39) missense probably benign 0.00
R3114:Rint1 UTSW 5 24,024,418 (GRCm39) missense probably benign 0.27
R4398:Rint1 UTSW 5 23,999,445 (GRCm39) missense possibly damaging 0.55
R4756:Rint1 UTSW 5 24,014,791 (GRCm39) missense probably damaging 1.00
R5246:Rint1 UTSW 5 24,005,809 (GRCm39) missense probably damaging 0.99
R5452:Rint1 UTSW 5 23,999,363 (GRCm39) missense probably benign 0.01
R5566:Rint1 UTSW 5 24,015,951 (GRCm39) missense probably damaging 1.00
R5709:Rint1 UTSW 5 24,020,831 (GRCm39) missense probably damaging 0.98
R6524:Rint1 UTSW 5 24,020,737 (GRCm39) missense probably benign 0.00
R7346:Rint1 UTSW 5 24,020,651 (GRCm39) missense possibly damaging 0.82
R7549:Rint1 UTSW 5 24,020,702 (GRCm39) missense probably benign
R7634:Rint1 UTSW 5 24,010,477 (GRCm39) missense probably benign 0.00
R7647:Rint1 UTSW 5 24,005,800 (GRCm39) missense probably damaging 1.00
R7885:Rint1 UTSW 5 24,010,642 (GRCm39) missense probably benign
R7895:Rint1 UTSW 5 24,005,720 (GRCm39) missense probably damaging 0.99
R8347:Rint1 UTSW 5 24,016,770 (GRCm39) missense probably damaging 1.00
R8791:Rint1 UTSW 5 24,005,594 (GRCm39) missense probably damaging 0.99
R8900:Rint1 UTSW 5 24,016,882 (GRCm39) missense possibly damaging 0.77
R8916:Rint1 UTSW 5 23,992,826 (GRCm39) unclassified probably benign
R8973:Rint1 UTSW 5 24,016,728 (GRCm39) missense probably benign 0.00
R9245:Rint1 UTSW 5 24,010,411 (GRCm39) missense probably benign
R9339:Rint1 UTSW 5 23,993,355 (GRCm39) makesense probably null
R9630:Rint1 UTSW 5 24,020,810 (GRCm39) missense possibly damaging 0.82
R9718:Rint1 UTSW 5 24,005,721 (GRCm39) missense possibly damaging 0.53
Z1088:Rint1 UTSW 5 24,010,312 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02