Incidental Mutation 'R7016:Rilp'
ID 545327
Institutional Source Beutler Lab
Gene Symbol Rilp
Ensembl Gene ENSMUSG00000038195
Gene Name Rab interacting lysosomal protein
Synonyms LOC333615
MMRRC Submission 045117-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7016 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75400920-75403994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75401745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 175 (E175G)
Ref Sequence ENSEMBL: ENSMUSP00000037238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000042808] [ENSMUST00000042972] [ENSMUST00000102510] [ENSMUST00000118243] [ENSMUST00000123819]
AlphaFold Q5ND29
Predicted Effect probably benign
Transcript: ENSMUST00000018449
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850

DomainStartEndE-ValueType
Pfam:PRO8NT 58 209 1.6e-84 PFAM
low complexity region 369 388 N/A INTRINSIC
Pfam:PROCN 393 801 3.6e-226 PFAM
low complexity region 802 814 N/A INTRINSIC
Pfam:RRM_4 986 1079 7.1e-49 PFAM
Pfam:U5_2-snRNA_bdg 1208 1343 1.9e-73 PFAM
Pfam:U6-snRNA_bdg 1442 1601 3.7e-97 PFAM
Pfam:PRP8_domainIV 1760 1990 1.5e-132 PFAM
JAB_MPN 2099 2233 9.02e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042808
SMART Domains Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 54 90 2.16e1 SMART
EGF 101 133 1.36e1 SMART
EGF_like 165 193 4.55e1 SMART
EGF_Lam 225 263 8.78e-2 SMART
EGF_like 262 296 4.93e1 SMART
EGF 307 341 2.69e1 SMART
EGF 352 384 2.25e1 SMART
transmembrane domain 424 446 N/A INTRINSIC
low complexity region 520 535 N/A INTRINSIC
low complexity region 791 805 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000042972
AA Change: E175G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195
AA Change: E175G

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
Pfam:Jnk-SapK_ap_N 27 195 2.1e-16 PFAM
Pfam:RILP 223 281 1.1e-21 PFAM
low complexity region 289 298 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102510
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850

DomainStartEndE-ValueType
Pfam:PRO8NT 58 209 1.6e-90 PFAM
low complexity region 369 388 N/A INTRINSIC
Pfam:PROCN 395 801 2.9e-239 PFAM
low complexity region 802 814 N/A INTRINSIC
Pfam:RRM_4 986 1077 1.5e-51 PFAM
Pfam:U5_2-snRNA_bdg 1210 1343 1.1e-77 PFAM
Pfam:U6-snRNA_bdg 1442 1600 4.2e-97 PFAM
Pfam:PRP8_domainIV 1760 1989 9.8e-134 PFAM
JAB_MPN 2099 2233 9.02e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118243
SMART Domains Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 54 90 2.16e1 SMART
EGF 101 133 1.36e1 SMART
EGF_like 165 193 4.55e1 SMART
EGF_Lam 225 263 8.78e-2 SMART
EGF_like 262 296 4.93e1 SMART
EGF 307 341 2.69e1 SMART
EGF 352 384 2.25e1 SMART
transmembrane domain 424 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123819
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,986,843 (GRCm39) V754D probably benign Het
Actn1 T A 12: 80,219,742 (GRCm39) M710L possibly damaging Het
Adam1a A G 5: 121,659,101 (GRCm39) F64S probably benign Het
Aip G T 19: 4,171,402 (GRCm39) D11E probably benign Het
Ak7 T A 12: 105,747,938 (GRCm39) Y714* probably null Het
Amhr2 A G 15: 102,362,799 (GRCm39) E522G possibly damaging Het
Amotl1 A G 9: 14,504,995 (GRCm39) L108P probably damaging Het
Arhgef17 A G 7: 100,528,184 (GRCm39) S677P probably benign Het
Asph T C 4: 9,630,604 (GRCm39) probably null Het
Atp11b T C 3: 35,895,185 (GRCm39) S908P probably benign Het
Atp13a3 C A 16: 30,157,308 (GRCm39) V903L possibly damaging Het
Bcam G A 7: 19,492,368 (GRCm39) R576* probably null Het
Btbd2 A G 10: 80,484,449 (GRCm39) S141P probably damaging Het
Cacna1b T C 2: 24,652,860 (GRCm39) N67S possibly damaging Het
Cc2d2b A G 19: 40,784,248 (GRCm39) T872A possibly damaging Het
Ccdc24 T A 4: 117,728,313 (GRCm39) I144F probably null Het
Cep44 A T 8: 56,997,234 (GRCm39) F101L possibly damaging Het
Cfap410 T A 10: 77,818,790 (GRCm39) C154S probably benign Het
Cimap1d T C 10: 79,475,790 (GRCm39) Y258C probably damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnajc21 G T 15: 10,461,493 (GRCm39) Y152* probably null Het
Edem2 A G 2: 155,557,992 (GRCm39) F214L possibly damaging Het
Fam118b G A 9: 35,135,014 (GRCm39) R198W probably damaging Het
Fgb A G 3: 82,953,371 (GRCm39) V133A probably benign Het
Fsip2 A G 2: 82,820,979 (GRCm39) T5571A probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hnf4a T A 2: 163,406,193 (GRCm39) Y277N probably damaging Het
Htatip2 A G 7: 49,420,583 (GRCm39) D143G possibly damaging Het
Itgae A G 11: 73,010,342 (GRCm39) N611D probably damaging Het
Ksr1 A T 11: 78,918,362 (GRCm39) N515K probably damaging Het
Lrp1 C A 10: 127,395,836 (GRCm39) probably null Het
Map3k20 T A 2: 72,208,979 (GRCm39) V195D probably damaging Het
Meox2 A G 12: 37,159,223 (GRCm39) S132G probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nell2 T A 15: 95,127,032 (GRCm39) N781I possibly damaging Het
Or12d16-ps1 G A 17: 37,706,094 (GRCm39) G221D possibly damaging Het
Or13a22 A G 7: 140,073,153 (GRCm39) T201A probably benign Het
Or51m1 A G 7: 103,578,737 (GRCm39) I236V probably benign Het
Or5e1 A G 7: 108,354,918 (GRCm39) N285S probably damaging Het
Otoa A T 7: 120,746,989 (GRCm39) Q918L probably damaging Het
Palld T G 8: 61,969,032 (GRCm39) K1022T probably damaging Het
Parp8 A T 13: 117,031,627 (GRCm39) S362T probably damaging Het
Phrf1 A G 7: 140,817,476 (GRCm39) E95G probably damaging Het
Pls1 A T 9: 95,668,994 (GRCm39) F76I probably damaging Het
Pnp T A 14: 51,187,706 (GRCm39) probably null Het
Ptdss1 A C 13: 67,120,685 (GRCm39) M294L probably benign Het
Rictor T A 15: 6,804,361 (GRCm39) probably null Het
Serpina16 T A 12: 103,641,630 (GRCm39) T32S probably benign Het
Sim1 C T 10: 50,860,346 (GRCm39) S736L probably benign Het
Smarcc2 T G 10: 128,321,198 (GRCm39) probably null Het
Smtn A G 11: 3,480,368 (GRCm39) probably null Het
Sspo T A 6: 48,426,098 (GRCm39) W98R probably damaging Het
St8sia3 A T 18: 64,402,654 (GRCm39) I98F probably benign Het
Taf10 A T 7: 105,393,205 (GRCm39) probably null Het
Tasor2 A T 13: 3,626,857 (GRCm39) V1031E possibly damaging Het
Tbc1d4 T A 14: 101,724,877 (GRCm39) N580I probably damaging Het
Trim12c A T 7: 103,997,413 (GRCm39) C48S Het
Tsc22d1 C A 14: 76,654,982 (GRCm39) T405K probably damaging Het
Tubgcp5 A G 7: 55,443,977 (GRCm39) D2G possibly damaging Het
Wwc2 T C 8: 48,300,583 (GRCm39) E960G unknown Het
Yme1l1 T A 2: 23,076,367 (GRCm39) probably null Het
Zbtb2 G C 10: 4,318,646 (GRCm39) P460R probably damaging Het
Zfp62 T G 11: 49,106,764 (GRCm39) I285S probably damaging Het
Other mutations in Rilp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02233:Rilp APN 11 75,403,538 (GRCm39) missense probably damaging 1.00
R0148:Rilp UTSW 11 75,401,059 (GRCm39) missense probably damaging 0.98
R0240:Rilp UTSW 11 75,401,747 (GRCm39) missense probably benign 0.00
R1964:Rilp UTSW 11 75,401,328 (GRCm39) missense probably benign 0.20
R1988:Rilp UTSW 11 75,401,759 (GRCm39) splice site probably null
R4599:Rilp UTSW 11 75,403,586 (GRCm39) missense probably benign
R4661:Rilp UTSW 11 75,402,250 (GRCm39) missense probably damaging 1.00
R4783:Rilp UTSW 11 75,401,467 (GRCm39) missense possibly damaging 0.91
R5134:Rilp UTSW 11 75,403,534 (GRCm39) missense probably damaging 0.99
R5558:Rilp UTSW 11 75,402,251 (GRCm39) missense probably damaging 1.00
R5723:Rilp UTSW 11 75,403,687 (GRCm39) unclassified probably benign
R6576:Rilp UTSW 11 75,403,218 (GRCm39) splice site probably null
R6792:Rilp UTSW 11 75,403,601 (GRCm39) nonsense probably null
R7301:Rilp UTSW 11 75,400,942 (GRCm39) unclassified probably benign
R7396:Rilp UTSW 11 75,401,712 (GRCm39) missense probably damaging 0.98
R7698:Rilp UTSW 11 75,401,798 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGAGCTTCGGGCACACAAC -3'
(R):5'- GGTACATCCATGCCAGGTAAAC -3'

Sequencing Primer
(F):5'- GGGCACACAACCGAGATCTG -3'
(R):5'- CCAGGTAAACCCAGGCTG -3'
Posted On 2019-05-13