Mutagenetix > Incidental Mutation

Incidental Mutation 'R5558:Rilp'

436418

Institutional Source

Beutler Lab

Gene Symbol

Rilp

Ensembl Gene

ENSMUSG00000038195

Gene Name

Rab interacting lysosomal protein

Synonyms

LOC333615

MMRRC Submission

043115-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5558 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75400920-75403994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75402251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 250 (Y250C)

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: Y250C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195
AA Change: Y250C

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,192,705 (GRCm39)	K177E	probably damaging	Het
Acvr1	T	C	2: 58,349,029 (GRCm39)	T378A	probably damaging	Het
Agtpbp1	A	G	13: 59,630,394 (GRCm39)	V779A	probably benign	Het
Alms1	C	T	6: 85,618,311 (GRCm39)	Q2786*	probably null	Het
Arhgef28	A	C	13: 98,097,968 (GRCm39)	L882R	probably damaging	Het
Cbx2	A	G	11: 118,919,775 (GRCm39)	T447A	probably benign	Het
Ch25h	A	G	19: 34,451,863 (GRCm39)	W222R	probably damaging	Het
Chsy3	T	G	18: 59,309,469 (GRCm39)	S241A	probably damaging	Het
Cyfip1	T	C	7: 55,541,749 (GRCm39)	S345P	possibly damaging	Het
Cyp4a30b	C	A	4: 115,316,063 (GRCm39)	D291E	probably damaging	Het
Dcstamp	A	G	15: 39,622,936 (GRCm39)	Y419C	probably damaging	Het
Eif3d	G	A	15: 77,846,047 (GRCm39)	R359C	probably damaging	Het
Elavl4	C	A	4: 110,063,800 (GRCm39)	G267V	probably benign	Het
Gars1	T	C	6: 55,042,592 (GRCm39)	S442P	probably damaging	Het
Gas6	C	T	8: 13,516,764 (GRCm39)	R578Q	probably null	Het
H4c4	C	A	13: 23,765,779 (GRCm39)	N65K	possibly damaging	Het
Ifitm6	T	C	7: 140,595,985 (GRCm39)	I103V	probably benign	Het
Igsf5	T	A	16: 96,187,731 (GRCm39)	I241N	possibly damaging	Het
Iqce	A	G	5: 140,657,560 (GRCm39)		probably null	Het
Khdc4	A	C	3: 88,600,403 (GRCm39)	H164P	probably damaging	Het
Kif20b	C	A	19: 34,928,949 (GRCm39)	Q1192K	probably damaging	Het
Lap3	A	G	5: 45,662,093 (GRCm39)	N298D	probably benign	Het
Lca5	A	T	9: 83,283,796 (GRCm39)	S246T	probably damaging	Het
Mrps5	G	A	2: 127,444,355 (GRCm39)	G330S	probably damaging	Het
Myh15	C	T	16: 48,889,900 (GRCm39)	R164C	probably benign	Het
Myo19	C	G	11: 84,801,274 (GRCm39)	P940R	probably damaging	Het
Or10j7	T	C	1: 173,011,585 (GRCm39)	R139G	probably benign	Het
Or5b12b	T	C	19: 12,861,751 (GRCm39)	F169L	probably benign	Het
Pcdh10	A	G	3: 45,338,603 (GRCm39)	D920G	probably damaging	Het
Pgm5	A	T	19: 24,801,815 (GRCm39)		probably null	Het
Phactr4	T	C	4: 132,105,766 (GRCm39)	E137G	probably damaging	Het
Pkn1	C	T	8: 84,411,351 (GRCm39)	V239M	probably damaging	Het
Plcz1	T	A	6: 139,985,481 (GRCm39)	D20V	probably damaging	Het
Prkca	A	T	11: 107,872,473 (GRCm39)	I429N	probably damaging	Het
Ptk2	A	T	15: 73,176,294 (GRCm39)	Y251N	probably damaging	Het
R3hdm2	T	C	10: 127,280,271 (GRCm39)	F31S	probably damaging	Het
Rab11fip1	T	A	8: 27,642,003 (GRCm39)	E932V	probably damaging	Het
Sclt1	A	G	3: 41,616,025 (GRCm39)	I474T	probably benign	Het
Slc14a2	T	A	18: 78,202,381 (GRCm39)	D583V	possibly damaging	Het
Slc30a4	A	G	2: 122,528,903 (GRCm39)	I324T	probably damaging	Het
Slc6a5	G	A	7: 49,577,321 (GRCm39)	V326I	probably benign	Het
Slco1c1	C	T	6: 141,513,222 (GRCm39)	T617I	probably damaging	Het
Sntg1	A	G	1: 8,484,495 (GRCm39)	S442P	possibly damaging	Het
Sys1	G	T	2: 164,306,429 (GRCm39)	A128S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmed5	A	G	5: 108,272,462 (GRCm39)	I212T	probably benign	Het
Tnks	T	C	8: 35,432,819 (GRCm39)	M1V	probably null	Het
Trpa1	T	C	1: 14,968,492 (GRCm39)	H452R	probably damaging	Het
Trpm3	T	C	19: 22,955,937 (GRCm39)	V1133A	probably damaging	Het
Ttn	T	A	2: 76,555,395 (GRCm39)	I30537F	probably damaging	Het
Ush2a	T	C	1: 188,530,024 (GRCm39)	V3271A	possibly damaging	Het
Utp20	C	G	10: 88,587,329 (GRCm39)	G2489R	probably damaging	Het
Vmn1r70	A	T	7: 10,368,402 (GRCm39)	S278C	probably benign	Het
Wdpcp	G	A	11: 21,661,732 (GRCm39)	A335T	probably benign	Het
Zc3h18	G	T	8: 123,113,659 (GRCm39)	R217L	probably damaging	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp955b	C	T	17: 33,521,161 (GRCm39)	T210I	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
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
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'- AATATTATTGTGAGCGCTGGGAC -3'
(R):5'- TTCAGTTTGGTGACCCCTGG -3'

Sequencing Primer
(F):5'- AGAGCTAAGACAGACTGCTCTCTG -3'
(R):5'- TGGTGACCCCTGGTGCTG -3'

Posted On

2016-10-24