Incidental Mutation 'R8900:Rint1'
ID 679894
Institutional Source Beutler Lab
Gene Symbol Rint1
Ensembl Gene ENSMUSG00000028999
Gene Name RAD50 interactor 1
Synonyms 2810450M21Rik, 1500019C06Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8900 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 23787711-23820369 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23811884 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 549 (V549A)
Ref Sequence ENSEMBL: ENSMUSP00000030852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030852] [ENSMUST00000115113]
AlphaFold Q8BZ36
Predicted Effect possibly damaging
Transcript: ENSMUST00000030852
AA Change: V549A

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999
AA Change: V549A

DomainStartEndE-ValueType
Pfam:RINT1_TIP1 304 784 2.3e-135 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115113
AA Change: V491A

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110766
Gene: ENSMUSG00000028999
AA Change: V491A

DomainStartEndE-ValueType
Pfam:RINT1_TIP1 246 727 1.2e-161 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A T 7: 131,302,468 probably benign Het
Abca9 T C 11: 110,154,392 T372A probably benign Het
Adamts8 C A 9: 30,954,634 R493S probably benign Het
Ankrd33b G A 15: 31,297,684 T309I probably damaging Het
Arhgap22 G A 14: 33,271,923 W58* probably null Het
B4galt4 C T 16: 38,752,042 probably benign Het
Bcl2a1a A T 9: 88,957,258 I70L probably benign Het
Bst1 A G 5: 43,820,600 D97G possibly damaging Het
Cand2 C T 6: 115,780,933 T52M probably benign Het
Cd101 C A 3: 101,018,746 R219L probably benign Het
Cd163l1 G A 7: 140,228,565 W796* probably null Het
Cd5l T A 3: 87,367,575 D140E probably benign Het
Cebpa A G 7: 35,120,481 M355V possibly damaging Het
Cfap74 G A 4: 155,436,730 E620K Het
Clec4a4 A G 6: 123,023,916 E196G probably damaging Het
Cpxm1 T A 2: 130,393,440 D544V probably damaging Het
Cwf19l2 T A 9: 3,447,245 D535E probably benign Het
Daw1 T G 1: 83,198,177 L212R probably benign Het
Dnm3 T A 1: 162,307,876 T443S probably benign Het
Dock9 T C 14: 121,580,528 D1627G probably damaging Het
Dohh A G 10: 81,387,901 I263V probably benign Het
Dsp G A 13: 38,181,179 V513M probably damaging Het
Dus4l G T 12: 31,640,693 L320I possibly damaging Het
Edc4 A C 8: 105,891,225 Q1139P probably damaging Het
Fam220a T A 5: 143,563,473 C213* probably null Het
Fgf14 A T 14: 123,983,914 Y159* probably null Het
Gm45861 A T 8: 27,529,604 D749V unknown Het
Hip1 T C 5: 135,430,290 T203A probably benign Het
Igfals A G 17: 24,880,040 D35G possibly damaging Het
Itga4 T A 2: 79,314,988 I716K probably damaging Het
Ncaph2 T A 15: 89,369,391 I282N probably benign Het
Ndufb3 T C 1: 58,595,665 Y59H probably damaging Het
Nxpe3 T C 16: 55,844,660 H399R probably damaging Het
Nxph1 T C 6: 9,247,601 S191P probably damaging Het
Olfr29-ps1 G T 4: 43,781,432 S299R probably benign Het
Olfr59 T C 11: 74,289,587 S314P probably damaging Het
Pcdha11 T G 18: 37,012,746 I630S probably damaging Het
Pfkl C G 10: 78,000,781 G134A probably damaging Het
Phf19 A T 2: 34,905,472 C196S probably damaging Het
Piezo2 T C 18: 63,115,025 K468R probably benign Het
Plekhn1 T C 4: 156,225,621 S79G possibly damaging Het
Pomk A G 8: 25,983,356 Y190H possibly damaging Het
Ppp1r13b T A 12: 111,872,344 E33D probably damaging Het
Raly A T 2: 154,863,573 I174F probably damaging Het
Rnf31 T G 14: 55,596,232 C566G probably damaging Het
Sdc1 C T 12: 8,790,460 T79I possibly damaging Het
Sema6a T G 18: 47,291,115 E242A probably damaging Het
Slc22a30 A C 19: 8,337,976 M430R probably damaging Het
Sp9 C A 2: 73,273,519 T139K probably benign Het
Tbkbp1 T C 11: 97,149,501 D29G probably benign Het
Tcf4 T C 18: 69,564,690 probably benign Het
Tenm3 A T 8: 48,236,402 I2050N probably damaging Het
Tiparp T A 3: 65,553,182 F531I probably damaging Het
Tmem132b A T 5: 125,778,820 I539F probably damaging Het
Ttf2 T C 3: 100,952,640 D666G probably damaging Het
Vmn1r51 T C 6: 90,129,860 S253P probably damaging Het
Vmn2r104 A G 17: 20,041,662 I402T probably damaging Het
Vmn2r16 T C 5: 109,363,753 Y609H probably benign Het
Vmn2r17 A T 5: 109,427,997 M245L probably benign Het
Vmn2r42 C T 7: 8,194,793 E276K probably benign Het
Wdr75 C A 1: 45,799,127 N65K probably damaging Het
Zfhx4 T C 3: 5,398,864 S1361P probably damaging Het
Zfp317 T A 9: 19,647,412 C396* probably null Het
Zfp651 A C 9: 121,767,639 K687T 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
IGL03280:Rint1 APN 5 23817078 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CATGGAGAGTACCAGGTTCATTCATG -3'
(R):5'- GTCACAGTTAGAGCCACAGC -3'

Sequencing Primer
(F):5'- GTTCACTCTCTCCGCAGACAGG -3'
(R):5'- GTTAGAGCCACAGCCACACAG -3'
Posted On 2021-08-31