Incidental Mutation 'R1722:Rinl'
ID 191546
Institutional Source Beutler Lab
Gene Symbol Rinl
Ensembl Gene ENSMUSG00000051735
Gene Name Ras and Rab interactor-like
Synonyms 9930116N10Rik, 5830482F20Rik
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1722 (G1)
Quality Score 192
Status Not validated
Chromosome 7
Chromosomal Location 28488394-28498388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28491669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 74 (L74P)
Ref Sequence ENSEMBL: ENSMUSP00000146576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059857] [ENSMUST00000072965] [ENSMUST00000122915] [ENSMUST00000209035] [ENSMUST00000155327] [ENSMUST00000170068]
AlphaFold Q80UW3
Predicted Effect probably damaging
Transcript: ENSMUST00000059857
AA Change: L74P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058447
Gene: ENSMUSG00000051735
AA Change: L74P

DomainStartEndE-ValueType
Blast:SH2 50 132 2e-38 BLAST
SCOP:d1lkka_ 69 143 3e-3 SMART
low complexity region 183 196 N/A INTRINSIC
low complexity region 376 395 N/A INTRINSIC
Pfam:VPS9 410 514 2.5e-21 PFAM
low complexity region 542 553 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072965
SMART Domains Protein: ENSMUSP00000072732
Gene: ENSMUSG00000015149

DomainStartEndE-ValueType
low complexity region 22 37 N/A INTRINSIC
Pfam:SIR2 84 268 2.6e-60 PFAM
low complexity region 297 307 N/A INTRINSIC
low complexity region 373 387 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132789
Predicted Effect probably damaging
Transcript: ENSMUST00000209035
AA Change: L74P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207201
Predicted Effect probably benign
Transcript: ENSMUST00000155327
Predicted Effect probably benign
Transcript: ENSMUST00000207462
Predicted Effect probably benign
Transcript: ENSMUST00000170068
SMART Domains Protein: ENSMUSP00000132783
Gene: ENSMUSG00000015149

DomainStartEndE-ValueType
Pfam:SIR2 14 198 3.8e-61 PFAM
low complexity region 227 237 N/A INTRINSIC
low complexity region 303 317 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Other mutations in Rinl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02370:Rinl APN 7 28,494,397 (GRCm39) splice site probably null
IGL03126:Rinl APN 7 28,495,075 (GRCm39) splice site probably benign
IGL03345:Rinl APN 7 28,496,222 (GRCm39) missense possibly damaging 0.55
R1453:Rinl UTSW 7 28,496,329 (GRCm39) missense probably damaging 1.00
R1648:Rinl UTSW 7 28,497,057 (GRCm39) missense probably damaging 1.00
R2127:Rinl UTSW 7 28,496,168 (GRCm39) missense probably damaging 1.00
R2290:Rinl UTSW 7 28,491,696 (GRCm39) missense probably benign 0.00
R2472:Rinl UTSW 7 28,489,803 (GRCm39) missense possibly damaging 0.83
R2883:Rinl UTSW 7 28,497,083 (GRCm39) frame shift probably null
R4062:Rinl UTSW 7 28,490,140 (GRCm39) missense probably benign
R6180:Rinl UTSW 7 28,496,365 (GRCm39) missense probably benign 0.02
R7080:Rinl UTSW 7 28,496,101 (GRCm39) missense probably damaging 0.99
R8112:Rinl UTSW 7 28,490,014 (GRCm39) critical splice acceptor site probably null
R8893:Rinl UTSW 7 28,491,747 (GRCm39) missense probably damaging 1.00
R9145:Rinl UTSW 7 28,495,089 (GRCm39) missense
R9168:Rinl UTSW 7 28,490,084 (GRCm39) missense possibly damaging 0.82
RF044:Rinl UTSW 7 28,496,988 (GRCm39) missense probably damaging 1.00
X0023:Rinl UTSW 7 28,489,830 (GRCm39) missense probably benign
X0066:Rinl UTSW 7 28,491,768 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AGCACACTATGGCCTTGAACAAGAC -3'
(R):5'- GATCAAAGCAGATAGCTCTCAGCCC -3'

Sequencing Primer
(F):5'- gtagcaaaattagagttatgaagcag -3'
(R):5'- agatagctctcagcccatttg -3'
Posted On 2014-05-14