Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Rilp'

345456

Institutional Source

Beutler Lab

Gene Symbol

Rilp

Ensembl Gene

ENSMUSG00000038195

Gene Name

Rab interacting lysosomal protein

Synonyms

LOC333615

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75400920-75403994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75403586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 343 (S343P)

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 benign
Transcript: ENSMUST00000042972
AA Change: S343P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195
AA Change: S343P

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,362,494 (GRCm39)	R677G	probably benign	Het
Apc	T	A	18: 34,451,040 (GRCm39)	Y2611*	probably null	Het
Apold1	A	G	6: 134,961,032 (GRCm39)	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,055,737 (GRCm39)	I325V	probably benign	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cd22	T	A	7: 30,575,325 (GRCm39)	H239L	probably damaging	Het
Chrna7	A	G	7: 62,753,538 (GRCm39)	M327T	probably damaging	Het
Cimip2b	T	C	4: 43,427,574 (GRCm39)	H250R	possibly damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Clspn	A	G	4: 126,475,253 (GRCm39)	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819 (GRCm39)	P10S	probably damaging	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Csmd2	G	T	4: 127,881,921 (GRCm39)	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,865,861 (GRCm39)	P153S	probably benign	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,839,546 (GRCm39)	G354C	probably damaging	Het
Dyrk1b	T	C	7: 27,881,856 (GRCm39)	L105P	probably damaging	Het
Epor	A	G	9: 21,873,155 (GRCm39)	S86P	probably benign	Het
Gale	C	A	4: 135,695,148 (GRCm39)	S341*	probably null	Het
Galnt4	T	A	10: 98,945,355 (GRCm39)	V360E	probably damaging	Het
Gart	A	T	16: 91,419,833 (GRCm39)	C24*	probably null	Het
Gcnt2	G	T	13: 41,040,966 (GRCm39)	V42L	probably benign	Het
Herc6	A	G	6: 57,636,698 (GRCm39)	I805V	probably benign	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Irx1	C	A	13: 72,108,232 (GRCm39)	R150L	probably damaging	Het
Kif26b	A	G	1: 178,358,024 (GRCm39)	Y45C	unknown	Het
Krt35	T	C	11: 99,984,834 (GRCm39)	T275A	probably damaging	Het
Laptm5	G	T	4: 130,643,316 (GRCm39)		probably benign	Het
Lin7a	T	C	10: 107,248,027 (GRCm39)	S111P	unknown	Het
Med27	A	G	2: 29,414,470 (GRCm39)	D159G	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Myo1a	A	T	10: 127,556,020 (GRCm39)		probably null	Het
Myo1c	T	C	11: 75,559,019 (GRCm39)	F604L	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ndc80	T	C	17: 71,828,063 (GRCm39)	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,505,282 (GRCm39)	D375G	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	G	7: 104,685,280 (GRCm39)	I292V	probably benign	Het
Padi3	T	C	4: 140,525,422 (GRCm39)	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,814,610 (GRCm39)	N367I	probably damaging	Het
Pdrg1	T	C	2: 152,854,310 (GRCm39)	I77V	probably benign	Het
Pfas	T	C	11: 68,881,895 (GRCm39)	E930G	probably benign	Het
Pik3cb	C	T	9: 98,943,817 (GRCm39)	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,971,237 (GRCm39)	V177E	probably damaging	Het
Prmt7	A	G	8: 106,976,961 (GRCm39)	S558G	possibly damaging	Het
Pspc1	A	C	14: 57,015,246 (GRCm39)		probably null	Het
Ror1	A	G	4: 100,265,107 (GRCm39)	M194V	probably damaging	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,324,752 (GRCm39)	N486S	probably damaging	Het
Sema6d	T	A	2: 124,496,151 (GRCm39)	I65N	probably damaging	Het
Slc5a11	A	G	7: 122,857,601 (GRCm39)	E230G	probably benign	Het
Spint1	T	C	2: 119,076,941 (GRCm39)	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,551,923 (GRCm39)	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,604,323 (GRCm39)	T271P	probably damaging	Het
Tie1	A	G	4: 118,329,831 (GRCm39)	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,511,125 (GRCm39)	Y375C	probably benign	Het
Tmem107	T	A	11: 68,962,274 (GRCm39)	M77K	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tns3	T	C	11: 8,481,747 (GRCm39)	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,670,347 (GRCm39)	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ush2a	A	G	1: 188,643,844 (GRCm39)	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,304,322 (GRCm39)	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,210,126 (GRCm39)		probably null	Het
Zp3	A	T	5: 136,013,089 (GRCm39)	K168*	probably null	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
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'- GCCTTTCACGCTGTTCTAAG -3'
(R):5'- TTTGAGGTCACACATCCACAC -3'

Sequencing Primer
(F):5'- TCACGCTGTTCTAAGATCTGTC -3'
(R):5'- ATCCACACACAGTTAGCTGG -3'

Posted On

2015-09-25