Mutagenetix > Incidental Mutation

Incidental Mutation 'R0148:Rilp'

22669

Institutional Source

Beutler Lab

Gene Symbol

Rilp

Ensembl Gene

ENSMUSG00000038195

Gene Name

Rab interacting lysosomal protein

Synonyms

LOC333615

MMRRC Submission

038432-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0148 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75400920-75403994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75401059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 29 (H29L)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: H29L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195
AA Change: H29L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156923

Meta Mutation Damage Score

0.1997

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

86% (30/35)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,639,405 (GRCm39)		probably null	Het
Agtr1a	T	C	13: 30,565,927 (GRCm39)	S331P	probably benign	Het
Ank1	T	A	8: 23,613,993 (GRCm39)	N1545K	probably damaging	Het
Bahcc1	A	T	11: 120,159,230 (GRCm39)	Q152H	probably damaging	Het
Bend3	T	A	10: 43,387,946 (GRCm39)	Y780N	probably damaging	Het
Bod1l	G	T	5: 41,976,040 (GRCm39)	A1758E	possibly damaging	Het
Ctcfl	T	C	2: 172,960,340 (GRCm39)	D81G	possibly damaging	Het
Ddx39a	C	T	8: 84,449,105 (GRCm39)	R298C	possibly damaging	Het
Dock8	T	C	19: 25,096,823 (GRCm39)	L577P	probably benign	Het
Drc1	A	T	5: 30,486,487 (GRCm39)	N13I	possibly damaging	Het
Efl1	T	C	7: 82,320,878 (GRCm39)	S104P	probably damaging	Het
Eml4	T	A	17: 83,729,081 (GRCm39)	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,931,853 (GRCm39)	T581A	probably damaging	Het
Epha3	T	C	16: 63,433,307 (GRCm39)	D446G	possibly damaging	Het
Fam209	G	T	2: 172,315,900 (GRCm39)	G92C	probably damaging	Het
Fbln1	G	A	15: 85,115,027 (GRCm39)	R193H	probably damaging	Het
Fbxw21	A	G	9: 108,977,085 (GRCm39)		probably null	Het
Fgf17	C	T	14: 70,876,313 (GRCm39)	R49Q	probably damaging	Het
Flnb	T	C	14: 7,939,077 (GRCm38)	S2307P	probably benign	Het
Galr1	A	G	18: 82,423,695 (GRCm39)	L194P	probably benign	Het
Gar1	T	C	3: 129,623,122 (GRCm39)	H89R	probably damaging	Het
Gbp4	T	A	5: 105,267,362 (GRCm39)	Y519F	probably benign	Het
Git1	A	G	11: 77,396,554 (GRCm39)	T601A	probably benign	Het
Gm10722	T	"C,A"	9: 3,001,405 (GRCm39)		probably null	Het
Gm5142	C	T	14: 59,416,119 (GRCm39)	R13H	possibly damaging	Het
Gria2	A	C	3: 80,615,038 (GRCm39)	W481G	probably damaging	Het
Homer2	T	C	7: 81,274,026 (GRCm39)	T57A	probably benign	Het
Hpse2	A	C	19: 42,920,099 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,302 (GRCm39)	I148T	probably damaging	Het
Htr1d	C	A	4: 136,170,788 (GRCm39)	T339K	probably damaging	Het
Il4ra	T	A	7: 125,174,709 (GRCm39)	C306S	probably damaging	Het
Kansl3	A	T	1: 36,392,897 (GRCm39)	C225S	probably damaging	Het
Lama3	G	A	18: 12,581,329 (GRCm39)	C596Y	probably damaging	Het
Lama5	T	C	2: 179,832,199 (GRCm39)	H1714R	probably benign	Het
Marchf6	C	T	15: 31,490,758 (GRCm39)	V293M	probably damaging	Het
Med12l	A	G	3: 58,945,075 (GRCm39)	D100G	probably damaging	Het
Mettl14	G	A	3: 123,165,043 (GRCm39)	T316I	probably damaging	Het
Mmp15	A	T	8: 96,098,945 (GRCm39)	N591Y	probably benign	Het
Mrpl53	T	C	6: 83,086,518 (GRCm39)	L74P	probably damaging	Het
Mvp	C	T	7: 126,589,037 (GRCm39)	V577M	probably damaging	Het
Neb	T	C	2: 52,139,388 (GRCm39)	K140E	probably damaging	Het
Nfya	A	G	17: 48,706,026 (GRCm39)	V48A	possibly damaging	Het
Ngf	G	T	3: 102,417,119 (GRCm39)		probably benign	Het
Nipsnap3b	C	T	4: 53,017,088 (GRCm39)	A104V	possibly damaging	Het
Nlrp14	A	G	7: 106,781,928 (GRCm39)	Y375C	probably benign	Het
Nod1	A	G	6: 54,915,202 (GRCm39)	Y764H	probably damaging	Het
Or13d1	A	T	4: 52,971,232 (GRCm39)	I204F	probably benign	Het
Or2w25	G	A	11: 59,504,320 (GRCm39)	V177M	probably damaging	Het
Or7e177	T	G	9: 20,212,387 (GRCm39)	M297R	probably damaging	Het
Pcdhb19	A	T	18: 37,630,235 (GRCm39)	Q10L	probably benign	Het
Pdcl	T	C	2: 37,242,142 (GRCm39)	I203V	probably benign	Het
Peg10	C	A	6: 4,755,711 (GRCm39)	R96S	possibly damaging	Het
Pknox1	T	A	17: 31,823,764 (GRCm39)	N379K	probably benign	Het
Prodh	T	G	16: 17,895,677 (GRCm39)	Q360P	probably damaging	Het
Raf1	C	T	6: 115,609,934 (GRCm39)	G202S	probably benign	Het
Rgs11	T	A	17: 26,426,433 (GRCm39)		probably null	Het
Rtel1	T	C	2: 180,962,839 (GRCm39)	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,279,898 (GRCm39)	I427K	probably damaging	Het
Ryr1	C	A	7: 28,751,460 (GRCm39)	R3706L	probably damaging	Het
Ryr2	T	C	13: 11,729,434 (GRCm39)	D2396G	probably damaging	Het
Slc45a2	T	C	15: 11,025,954 (GRCm39)	S435P	probably damaging	Het
Spata17	A	G	1: 186,844,798 (GRCm39)	V111A	probably damaging	Het
Svep1	C	T	4: 58,116,608 (GRCm39)	D881N	possibly damaging	Het
Sypl2	T	A	3: 108,126,411 (GRCm39)	N67I	possibly damaging	Het
Tenm3	T	C	8: 48,689,755 (GRCm39)	Y1944C	probably damaging	Het
Tep1	A	T	14: 51,062,246 (GRCm39)	D2535E	possibly damaging	Het
Tkt	T	A	14: 30,294,177 (GRCm39)	I529N	probably damaging	Het
Trp53i11	T	G	2: 93,028,080 (GRCm39)	V39G	probably damaging	Het
Trpm2	C	T	10: 77,761,659 (GRCm39)	G997D	probably damaging	Het
Usp3	A	G	9: 66,447,449 (GRCm39)	V219A	possibly damaging	Het
Usp4	T	A	9: 108,268,870 (GRCm39)		probably null	Het
Wdfy3	A	G	5: 102,065,277 (GRCm39)	V1297A	probably benign	Het
Wdr46	T	A	17: 34,159,997 (GRCm39)	F70I	probably benign	Het
Xkr6	T	C	14: 64,056,998 (GRCm39)	V303A	unknown	Het
Zdbf2	C	T	1: 63,343,165 (GRCm39)	Q515*	probably null	Het
Zfhx2	A	G	14: 55,310,354 (GRCm39)	Y731H	possibly damaging	Het

Other mutations in Rilp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02233:Rilp	APN	11	75,403,538 (GRCm39)	missense	probably damaging	1.00
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
R7016:Rilp	UTSW	11	75,401,745 (GRCm39)	missense	probably damaging	0.99
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'- TGACCACTTACAGCTCTAGTCCTCAAC -3'
(R):5'- GGGTGTCTTTAGCACTACCGATCTCTG -3'

Sequencing Primer
(F):5'- CTCTTGGATACCTGCCTGGAAG -3'
(R):5'- TGGGACCCTCACTCACC -3'

Posted On

2013-04-16