Incidental Mutation 'IGL02799:Rint1'
ID 392263
Institutional Source Beutler Lab
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 # IGL02799 (G1)
Quality Score 112
Status Validated
Chromosome 5
Chromosomal Location 23992709-24025367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 24024478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 760 (A760D)
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: A760D

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999
AA Change: A760D

DomainStartEndE-ValueType
Pfam:RINT1_TIP1 304 784 2.3e-135 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115113
AA Change: A702D

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110766
Gene: ENSMUSG00000028999
AA Change: A702D

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
Meta Mutation Damage Score 0.4621 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G 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
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
Predicted Primers PCR Primer
(F):5'- GCACATGTAGAACCAAGTAGTCC -3'
(R):5'- GAGAACTTCAATCCAACTCTTGAC -3'

Sequencing Primer
(F):5'- GTCCATAGATAGTTAAATGGCTGTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2016-06-09