Mutagenetix > Incidental Mutation

Incidental Mutation 'R7301:Rilp'

566998

Institutional Source

Beutler Lab

Gene Symbol

Rilp

Ensembl Gene

ENSMUSG00000038195

Gene Name

Rab interacting lysosomal protein

Synonyms

LOC333615

MMRRC Submission

045405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75400920-75403994 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 75400942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120097 (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 benign
Transcript: ENSMUST00000042972

SMART Domains

Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,376,308 (GRCm39)	S345N	possibly damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Ankrd26	T	C	6: 118,488,624 (GRCm39)	E1345G	possibly damaging	Het
Atp1a3	T	A	7: 24,689,940 (GRCm39)	Y493F	probably benign	Het
Atxn2l	G	T	7: 126,093,383 (GRCm39)	Y791*	probably null	Het
Cacng8	C	A	7: 3,463,937 (GRCm39)	T363K	probably benign	Het
Camkmt	A	G	17: 85,738,921 (GRCm39)	T216A	probably benign	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cnppd1	A	G	1: 75,113,068 (GRCm39)	L400P	probably damaging	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Dpyd	T	C	3: 118,692,933 (GRCm39)	V359A	possibly damaging	Het
Dscam	T	C	16: 96,857,732 (GRCm39)	T93A	probably benign	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Entpd2	T	A	2: 25,290,921 (GRCm39)	I475N	possibly damaging	Het
Ercc2	C	A	7: 19,128,060 (GRCm39)	Q715K	probably benign	Het
Fam186b	T	C	15: 99,176,629 (GRCm39)	R754G	probably benign	Het
Fcgbp	T	A	7: 27,792,861 (GRCm39)	V955E	possibly damaging	Het
Frrs1	T	C	3: 116,689,212 (GRCm39)	V361A	possibly damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Greb1l	C	G	18: 10,544,970 (GRCm39)	Q1433E	probably damaging	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-58	A	T	12: 115,275,915 (GRCm39)	N74K	probably benign	Het
Il12rb1	A	G	8: 71,266,343 (GRCm39)	I229M	possibly damaging	Het
Il17rd	T	C	14: 26,798,348 (GRCm39)	I56T	possibly damaging	Het
Itpr1	T	C	6: 108,518,985 (GRCm39)	V2708A	possibly damaging	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Lmf2	C	A	15: 89,239,733 (GRCm39)		probably benign	Het
Lrrc3b	T	C	14: 15,357,934 (GRCm38)	Y224C	probably damaging	Het
Med1	A	C	11: 98,043,634 (GRCm39)	F599C	probably benign	Het
Mrgprb4	A	G	7: 47,848,506 (GRCm39)	S141P	probably damaging	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Myo3a	T	C	2: 22,436,504 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Nqo1	A	G	8: 108,119,280 (GRCm39)	I99T	probably damaging	Het
Or1j17	T	A	2: 36,578,023 (GRCm39)	M3K	probably benign	Het
Or6c2b	T	C	10: 128,947,568 (GRCm39)	H242R	probably damaging	Het
Pabir1	T	A	19: 24,454,488 (GRCm39)	H78L	probably benign	Het
Pabir1	T	A	19: 24,454,710 (GRCm39)	E4V	probably damaging	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Plpp7	T	G	2: 31,986,067 (GRCm39)	F82V	probably benign	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Rasl2-9	A	G	7: 5,128,739 (GRCm39)	W64R	probably damaging	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Slc27a4	C	T	2: 29,702,944 (GRCm39)	T591I	probably null	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Spata31f1e	T	C	4: 42,792,923 (GRCm39)	N403S	possibly damaging	Het
Sptbn1	A	T	11: 30,067,798 (GRCm39)	Y1805*	probably null	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Synpo2	A	C	3: 122,907,702 (GRCm39)	M538R	probably benign	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r127	A	G	7: 21,052,978 (GRCm39)	F270S	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	probably benign	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
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
R7016:Rilp	UTSW	11	75,401,745 (GRCm39)	missense	probably damaging	0.99
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'- GAAGTTGGCCGACCTGTATC -3'
(R):5'- CCTTTTCCAAGAGCTCCAGC -3'

Sequencing Primer
(F):5'- GACCTGTATCCAGTGACCTTGTAG -3'
(R):5'- ACGACTAGTGGCACCAGC -3'

Posted On

2019-06-26