Incidental Mutation 'R7885:Rint1'
ID 609001
Institutional Source Beutler Lab
Gene Symbol Rint1
Ensembl Gene ENSMUSG00000028999
Gene Name RAD50 interactor 1
Synonyms 1500019C06Rik, 2810450M21Rik
MMRRC Submission 045937-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7885 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 23992709-24025367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24010642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 255 (S255G)
Ref Sequence ENSEMBL: ENSMUSP00000030852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030852] [ENSMUST00000115113]
AlphaFold Q8BZ36
Predicted Effect probably benign
Transcript: ENSMUST00000030852
AA Change: S255G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999
AA Change: S255G

DomainStartEndE-ValueType
Pfam:RINT1_TIP1 304 784 2.3e-135 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115113
AA Change: S197G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110766
Gene: ENSMUSG00000028999
AA Change: S197G

DomainStartEndE-ValueType
Pfam:RINT1_TIP1 246 727 1.2e-161 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,131,542 (GRCm39) V649A possibly damaging Het
Arglu1 C T 8: 8,717,337 (GRCm39) R244H possibly damaging Het
Asic5 A T 3: 81,913,812 (GRCm39) Y204F probably benign Het
Asz1 A G 6: 18,104,876 (GRCm39) F76S probably damaging Het
Bin1 G A 18: 32,552,896 (GRCm39) A174T probably damaging Het
Bnipl A C 3: 95,157,551 (GRCm39) S23A probably benign Het
Cd19 T C 7: 126,011,303 (GRCm39) T294A probably benign Het
Cdon G A 9: 35,367,818 (GRCm39) V238I probably benign Het
Chd3 A T 11: 69,247,451 (GRCm39) D957E probably benign Het
Crhbp T C 13: 95,568,515 (GRCm39) Q307R probably damaging Het
Cst3 A G 2: 148,714,741 (GRCm39) M112T probably benign Het
Dgkb A G 12: 38,189,425 (GRCm39) E276G probably damaging Het
Exoc4 T A 6: 33,735,001 (GRCm39) N539K probably benign Het
Gm3099 A G 14: 15,345,429 (GRCm39) E85G probably benign Het
Gpatch2 A G 1: 186,957,698 (GRCm39) probably null Het
Hs3st5 T A 10: 36,704,776 (GRCm39) Y26* probably null Het
Hspg2 A T 4: 137,244,148 (GRCm39) D802V probably damaging Het
Ifih1 A G 2: 62,431,813 (GRCm39) V846A possibly damaging Het
Lama4 T A 10: 38,964,840 (GRCm39) S1402T probably benign Het
Lrmda A G 14: 22,648,388 (GRCm39) T73A unknown Het
Lrrc1 A T 9: 77,349,471 (GRCm39) V365E probably damaging Het
Lrrc37a T A 11: 103,393,868 (GRCm39) Q519L probably benign Het
Mlc1 G T 15: 88,862,107 (GRCm39) D36E probably benign Het
Mrc2 A T 11: 105,223,092 (GRCm39) D445V probably damaging Het
Muc16 A G 9: 18,550,760 (GRCm39) S5178P probably benign Het
Nbea A G 3: 55,573,110 (GRCm39) I2491T probably damaging Het
Ncoa1 A G 12: 4,389,044 (GRCm39) I77T probably damaging Het
Npepps G T 11: 97,109,474 (GRCm39) H701N probably damaging Het
Or4n4b T G 14: 50,536,041 (GRCm39) T242P probably damaging Het
Or7g22 A T 9: 19,048,831 (GRCm39) I181F possibly damaging Het
Pclo T TTCTAG 5: 14,764,209 (GRCm39) probably null Het
Pclo GTCTAT GTCTATTCTAT 5: 14,764,204 (GRCm39) probably null Het
Pclo TCTAT TCTATACTAT 5: 14,764,205 (GRCm39) probably null Het
Pi4kb T C 3: 94,906,387 (GRCm39) Y645H probably damaging Het
Pik3r5 C T 11: 68,383,528 (GRCm39) A449V possibly damaging Het
Plat A G 8: 23,261,736 (GRCm39) T45A probably benign Het
Platr25 T C 13: 62,848,676 (GRCm39) K62R possibly damaging Het
Ppp5c A G 7: 16,740,111 (GRCm39) V410A possibly damaging Het
Prdm2 C T 4: 142,861,140 (GRCm39) A717T probably benign Het
Pstpip2 C A 18: 77,882,422 (GRCm39) T2K probably benign Het
Ptpn12 A C 5: 21,203,523 (GRCm39) S418R possibly damaging Het
Rmc1 T C 18: 12,322,371 (GRCm39) L608P probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Stab2 T C 10: 86,714,776 (GRCm39) H1581R probably benign Het
Stau2 T C 1: 16,530,577 (GRCm39) Y114C unknown Het
Ticam1 T C 17: 56,578,067 (GRCm39) T343A probably benign Het
Tmem131l T C 3: 83,817,724 (GRCm39) K1259E possibly damaging Het
Vmn2r103 T A 17: 20,013,385 (GRCm39) F169I probably benign Het
Vps33a T C 5: 123,673,312 (GRCm39) K425E possibly damaging Het
Vwa8 T C 14: 79,258,089 (GRCm39) M746T probably benign Het
Zc3hav1 A G 6: 38,313,598 (GRCm39) I149T possibly damaging Het
Zfp708 A T 13: 67,222,193 (GRCm39) D62E probably benign 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
IGL03280:Rint1 APN 5 24,022,076 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGCTTACCAGGCAGGAAATGTC -3'
(R):5'- CATGGCCACTTGGAAACCTTTC -3'

Sequencing Primer
(F):5'- AGGAAATGTCTCCTGTTGACTGC -3'
(R):5'- CCTGACTGTGGAGGCTGATC -3'
Posted On 2019-12-20