Incidental Mutation 'R4904:Rilpl1'
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ID378028
Institutional Source Beutler Lab
Gene Symbol Rilpl1
Ensembl Gene ENSMUSG00000029392
Gene NameRab interacting lysosomal protein-like 1
Synonyms2900002H16Rik, 6330559I19Rik, GOSPEL
MMRRC Submission 042507-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4904 (G1)
Quality Score202
Status Validated
Chromosome5
Chromosomal Location124493080-124531391 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 124514744 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062153] [ENSMUST00000199125] [ENSMUST00000199766]
Predicted Effect probably null
Transcript: ENSMUST00000062153
SMART Domains Protein: ENSMUSP00000050014
Gene: ENSMUSG00000029392

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 27 175 2.3e-47 PFAM
Pfam:RILP 298 351 4e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000199125
SMART Domains Protein: ENSMUSP00000142887
Gene: ENSMUSG00000029392

DomainStartEndE-ValueType
coiled coil region 21 65 N/A INTRINSIC
Pfam:RILP 105 164 2.1e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000199766
SMART Domains Protein: ENSMUSP00000143250
Gene: ENSMUSG00000029392

DomainStartEndE-ValueType
coiled coil region 1 37 N/A INTRINSIC
Pfam:RILP 77 136 2.1e-27 PFAM
Meta Mutation Damage Score 0.9478 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 94% (82/87)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T G 4: 130,012,539 I920S possibly damaging Het
Afap1l1 A G 18: 61,738,715 I556T probably benign Het
Ankfy1 C A 11: 72,752,105 H665N probably benign Het
Aqp9 A C 9: 71,162,403 probably benign Het
Arhgap21 A G 2: 20,850,061 S1497P probably benign Het
Armc7 A G 11: 115,488,974 D166G probably damaging Het
Arrdc1 C A 2: 24,926,664 V167F possibly damaging Het
AW822073 T A 10: 58,223,487 R482* probably null Het
Col6a3 A T 1: 90,801,442 I1259N probably damaging Het
Coq8a C T 1: 180,178,603 R207Q probably damaging Het
Cybb C G X: 9,450,750 D246H probably benign Het
Dcbld1 C T 10: 52,319,970 Q425* probably null Het
Def8 A G 8: 123,461,480 N445D probably damaging Het
Dicer1 C T 12: 104,713,066 V551I probably benign Het
Dst A T 1: 34,169,798 T800S probably damaging Het
Dtl A T 1: 191,568,345 C136S probably damaging Het
Duox1 T A 2: 122,320,864 Y310N probably damaging Het
Ebf1 T C 11: 44,869,169 F211S probably damaging Het
Gm44501 A T 17: 40,578,993 I133F possibly damaging Het
Gm6625 T C 8: 89,146,751 noncoding transcript Het
Golgb1 A T 16: 36,893,386 D243V probably damaging Het
Gprc5c G T 11: 114,864,267 V257L possibly damaging Het
Gtf2a1l G A 17: 88,690,043 probably null Het
Herc2 T C 7: 56,157,486 F2471L probably damaging Het
Hfe A T 13: 23,708,054 I109N probably damaging Het
Hrg A G 16: 22,951,250 E43G probably benign Het
Hspa1a T C 17: 34,970,451 D492G probably damaging Het
Itgb8 T C 12: 119,170,871 D487G probably benign Het
Jag1 A G 2: 137,087,142 V798A probably damaging Het
Kcnq5 A G 1: 21,424,100 V501A probably damaging Het
Kntc1 T C 5: 123,778,333 V743A possibly damaging Het
Ly86 G T 13: 37,415,520 V126F possibly damaging Het
Med26 A T 8: 72,496,847 L136H probably damaging Het
Mpp3 T C 11: 102,000,587 D575G probably benign Het
Myoc G A 1: 162,639,425 M54I probably benign Het
Nlrp1c-ps A G 11: 71,242,628 noncoding transcript Het
Olfr111 A G 17: 37,530,631 Y218C probably damaging Het
Olfr1418 C T 19: 11,855,867 V29M possibly damaging Het
Olfr574 A G 7: 102,949,065 Y190C probably damaging Het
Pak7 A T 2: 136,083,347 D678E probably benign Het
Pcdhb12 T C 18: 37,437,856 V685A possibly damaging Het
Pcdhga2 A G 18: 37,669,879 T259A possibly damaging Het
Pde6a A T 18: 61,265,034 M702L probably benign Het
Pigq A G 17: 25,931,060 probably benign Het
Polrmt A G 10: 79,746,551 M1T probably null Het
Ptch1 A C 13: 63,523,004 I904S probably damaging Het
Rflnb A T 11: 76,022,138 C141* probably null Het
Rpgrip1 T C 14: 52,121,087 S217P possibly damaging Het
Rpgrip1 A T 14: 52,160,129 I1292F probably damaging Het
Sema3a A C 5: 13,581,098 Y534S probably damaging Het
Sez6 A G 11: 77,975,254 Y736C probably damaging Het
Shank1 G T 7: 44,334,040 probably benign Het
Slc45a4 G A 15: 73,586,842 S294F probably benign Het
Slc9a8 A G 2: 167,471,396 I393V possibly damaging Het
Sod1 T A 16: 90,222,844 F46Y probably damaging Het
Sult1b1 T C 5: 87,535,053 D11G probably benign Het
Syn3 T G 10: 86,467,086 K68N possibly damaging Het
Taar8c C T 10: 24,101,249 V222I probably benign Het
Tbx20 T C 9: 24,758,833 K235E probably damaging Het
Tcaf3 C A 6: 42,593,997 E274* probably null Het
Tll1 A T 8: 64,070,199 M493K probably benign Het
Tmem236 T A 2: 14,195,992 S123T probably benign Het
Trim33 T C 3: 103,331,647 V647A possibly damaging Het
Tspear T A 10: 77,869,655 Y296N possibly damaging Het
Vps13d T C 4: 145,155,445 K1187E probably damaging Het
Xpot C T 10: 121,617,178 V52I probably benign Het
Zdhhc3 A T 9: 123,100,387 V61E probably damaging Het
Zfp955a A T 17: 33,242,188 C323* probably null Het
Other mutations in Rilpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Rilpl1 APN 5 124503649 missense probably damaging 1.00
IGL01727:Rilpl1 APN 5 124530944 missense possibly damaging 0.50
R0973:Rilpl1 UTSW 5 124501871 missense probably benign 0.01
R0973:Rilpl1 UTSW 5 124501888 missense possibly damaging 0.72
R0973:Rilpl1 UTSW 5 124501871 missense probably benign 0.01
R0973:Rilpl1 UTSW 5 124501888 missense possibly damaging 0.72
R0974:Rilpl1 UTSW 5 124501871 missense probably benign 0.01
R0974:Rilpl1 UTSW 5 124501888 missense possibly damaging 0.72
R1056:Rilpl1 UTSW 5 124493837 missense probably damaging 1.00
R1539:Rilpl1 UTSW 5 124515555 missense probably damaging 1.00
R1800:Rilpl1 UTSW 5 124514656 missense probably damaging 1.00
R1928:Rilpl1 UTSW 5 124514750 unclassified probably benign
R4661:Rilpl1 UTSW 5 124514688 missense probably benign 0.32
R4804:Rilpl1 UTSW 5 124493765 missense probably damaging 1.00
R4937:Rilpl1 UTSW 5 124515531 missense possibly damaging 0.64
R5034:Rilpl1 UTSW 5 124493824 missense probably damaging 1.00
R6301:Rilpl1 UTSW 5 124514539 missense probably damaging 1.00
R7009:Rilpl1 UTSW 5 124503692 synonymous silent
R7681:Rilpl1 UTSW 5 124530913 missense possibly damaging 0.82
R7788:Rilpl1 UTSW 5 124496137 splice site probably null
R8378:Rilpl1 UTSW 5 124530901 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCGAGTTCAGCCCGC -3'
(R):5'- GTCCATTCATAAGCCCAGGGGA -3'

Sequencing Primer
(F):5'- CAGGCTGCCCATCTCCTG -3'
(R):5'- ACACACCACCTAGTTTGC -3'
Posted On2016-04-15