Incidental Mutation 'R8112:Rinl'
ID 630926
Institutional Source Beutler Lab
Gene Symbol Rinl
Ensembl Gene ENSMUSG00000051735
Gene Name Ras and Rab interactor-like
Synonyms 9930116N10Rik, 5830482F20Rik
MMRRC Submission 067541-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8112 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 28488394-28498388 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 28490014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000058447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059857] [ENSMUST00000059857] [ENSMUST00000072965] [ENSMUST00000122915] [ENSMUST00000155327] [ENSMUST00000170068] [ENSMUST00000209035] [ENSMUST00000209035]
AlphaFold Q80UW3
Predicted Effect probably null
Transcript: ENSMUST00000059857
SMART Domains Protein: ENSMUSP00000058447
Gene: ENSMUSG00000051735

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 null
Transcript: ENSMUST00000059857
SMART Domains Protein: ENSMUSP00000058447
Gene: ENSMUSG00000051735

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 probably benign
Transcript: ENSMUST00000155327
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
Predicted Effect probably null
Transcript: ENSMUST00000209035
Predicted Effect probably null
Transcript: ENSMUST00000209035
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.5%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,264,624 (GRCm39) V3002A probably benign Het
Aifm3 T C 16: 17,320,804 (GRCm39) V422A probably damaging Het
Alx3 G T 3: 107,512,300 (GRCm39) E313* probably null Het
Arfgef3 A G 10: 18,528,379 (GRCm39) V336A possibly damaging Het
Art5 A T 7: 101,747,218 (GRCm39) V187E probably benign Het
Atxn1 A G 13: 45,721,433 (GRCm39) V154A probably benign Het
B3galt1 A G 2: 67,948,702 (GRCm39) D139G probably damaging Het
Cbx5 A G 15: 103,108,171 (GRCm39) V158A probably benign Het
Cdca7l T C 12: 117,840,779 (GRCm39) probably null Het
Cecr2 T C 6: 120,739,175 (GRCm39) S1301P probably benign Het
Chmp3 T A 6: 71,538,012 (GRCm39) S80T probably benign Het
Cyp2g1 T A 7: 26,518,886 (GRCm39) D427E probably benign Het
Depdc5 G A 5: 33,126,050 (GRCm39) V1199I possibly damaging Het
Efcab3 T C 11: 104,841,026 (GRCm39) V3643A unknown Het
Ehmt1 G T 2: 24,753,396 (GRCm39) L335M probably damaging Het
Elfn2 A G 15: 78,557,635 (GRCm39) V304A probably damaging Het
Emc1 C T 4: 139,094,498 (GRCm39) R684W probably benign Het
Eme2 A T 17: 25,113,809 (GRCm39) V72E probably damaging Het
Gen1 T A 12: 11,304,374 (GRCm39) K230* probably null Het
Gfap T A 11: 102,787,928 (GRCm39) I6F probably benign Het
Grid2 T C 6: 63,885,891 (GRCm39) S96P probably damaging Het
H2-M2 A G 17: 37,794,383 (GRCm39) L13P unknown Het
Hps4 T G 5: 112,517,977 (GRCm39) C323W probably benign Het
Ing3 A G 6: 21,952,181 (GRCm39) K52E probably damaging Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Klhl3 C T 13: 58,161,677 (GRCm39) V473M possibly damaging Het
Krt4 T A 15: 101,828,724 (GRCm39) N380I probably damaging Het
Lrp1 A T 10: 127,441,715 (GRCm39) C174S probably damaging Het
Lrrc8e T C 8: 4,285,575 (GRCm39) I600T probably benign Het
Malt1 T C 18: 65,582,680 (GRCm39) probably null Het
Mindy1 T C 3: 95,202,122 (GRCm39) L333P probably damaging Het
Mrgprb1 A G 7: 48,097,682 (GRCm39) S77P probably damaging Het
Mtus2 G T 5: 148,013,713 (GRCm39) E169* probably null Het
Muc5b A G 7: 141,415,765 (GRCm39) T2904A possibly damaging Het
Noxa1 C T 2: 24,982,553 (GRCm39) probably null Het
Ogfod3 G A 11: 121,095,376 (GRCm39) R5W probably damaging Het
Or4f59 T A 2: 111,872,982 (GRCm39) I132F probably damaging Het
Or7g35 T A 9: 19,496,020 (GRCm39) F62L probably benign Het
Or9i16 A G 19: 13,864,753 (GRCm39) S274P probably damaging Het
Pgm3 C A 9: 86,446,828 (GRCm39) R230L probably benign Het
Plpbp A G 8: 27,536,069 (GRCm39) I121V unknown Het
Prl8a9 T C 13: 27,743,355 (GRCm39) D150G probably benign Het
Psapl1 A G 5: 36,362,919 (GRCm39) N504D probably benign Het
Ptchd4 A C 17: 42,814,066 (GRCm39) N656H probably benign Het
Ptprs A T 17: 56,741,532 (GRCm39) Y577* probably null Het
Rasgef1c A G 11: 49,858,228 (GRCm39) Y263C probably damaging Het
Scd4 T C 19: 44,325,945 (GRCm39) F100L probably benign Het
Scgb2b20 T G 7: 33,063,969 (GRCm39) R100S probably benign Het
Scn8a C T 15: 100,927,718 (GRCm39) A1399V probably benign Het
Slc22a7 A G 17: 46,747,756 (GRCm39) V267A probably benign Het
Slc7a11 T C 3: 50,372,440 (GRCm39) E263G possibly damaging Het
Slmap A G 14: 26,143,703 (GRCm39) L728P probably damaging Het
Smarcb1 A T 10: 75,745,986 (GRCm39) probably null Het
Sspn T C 6: 145,901,361 (GRCm39) V80A possibly damaging Het
Tasor2 A T 13: 3,619,516 (GRCm39) D2238E probably damaging Het
Terb1 T C 8: 105,195,399 (GRCm39) T581A probably benign Het
Themis A G 10: 28,673,502 (GRCm39) *596W probably null Het
Thoc2l T C 5: 104,669,501 (GRCm39) F1341S probably benign Het
Trac T C 14: 54,460,557 (GRCm39) probably benign Het
Trim37 T C 11: 87,109,093 (GRCm39) F940S possibly damaging Het
Trpa1 T C 1: 14,974,490 (GRCm39) T231A probably benign Het
Ttn T C 2: 76,580,529 (GRCm39) I23455V probably benign Het
Wap G T 11: 6,586,724 (GRCm39) T125K probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Zfp85 T C 13: 67,896,893 (GRCm39) D393G possibly 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
R1722:Rinl UTSW 7 28,491,669 (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
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'- CAGGTGAGGCTATAGAGTTGGC -3'
(R):5'- TAGCTGATCCAAGCTGACATAGG -3'

Sequencing Primer
(F):5'- GAGTTGGCTCTGGATCAAAATCCC -3'
(R):5'- AGAAGTTGCACCCAGCTTTG -3'
Posted On 2020-06-30