Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Rilpl1'

82941

Institutional Source

Beutler Lab

Gene Symbol

Rilpl1

Ensembl Gene

ENSMUSG00000029392

Gene Name

Rab interacting lysosomal protein-like 1

Synonyms

2900002H16Rik, 6330559I19Rik, GOSPEL

MMRRC Submission

039102-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0973 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

124493080-124531391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124501871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 156 (S156P)

Ref Sequence

ENSEMBL: ENSMUSP00000142887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062153] [ENSMUST00000199125] [ENSMUST00000199766]

AlphaFold

Q9JJC6

Predicted Effect

probably benign
Transcript: ENSMUST00000062153
AA Change: S349P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000050014
Gene: ENSMUSG00000029392
AA Change: S349P

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	27	175	2.3e-47	PFAM
Pfam:RILP	298	351	4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199125
AA Change: S156P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142887
Gene: ENSMUSG00000029392
AA Change: S156P

Domain	Start	End	E-Value	Type
coiled coil region	21	65	N/A	INTRINSIC
Pfam:RILP	105	164	2.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199766
AA Change: S128P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000143250
Gene: ENSMUSG00000029392
AA Change: S128P

Domain	Start	End	E-Value	Type
coiled coil region	1	37	N/A	INTRINSIC
Pfam:RILP	77	136	2.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200202

Meta Mutation Damage Score

0.0683

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,467,926		probably null	Het
5430419D17Rik	T	C	7: 131,238,182	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853	T324A	probably benign	Het
AI429214	A	G	8: 36,994,319	Q207R	probably benign	Het
Asic5	C	T	3: 82,008,448		probably benign	Het
Atp13a1	T	C	8: 69,802,144		probably null	Het
Atp6v0a1	T	A	11: 101,055,491	L770*	probably null	Het
B3gnt5	T	A	16: 19,770,010	D326E	probably damaging	Het
Btbd9	T	A	17: 30,299,633	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992	*366W	probably null	Het
Cenpc1	A	T	5: 86,037,908	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899	S574P	probably benign	Het
Cep250	A	G	2: 155,964,289		probably benign	Het
Chd2	A	G	7: 73,478,664	S858P	probably damaging	Het
Cxcl1	A	T	5: 90,891,767	K85*	probably null	Het
Daam1	A	C	12: 71,915,784	K90T	unknown	Het
Diexf	A	T	1: 193,114,703	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,127,987	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145	V3081A	probably damaging	Het
Dnah9	A	T	11: 66,005,837		probably null	Het
Efemp1	A	G	11: 28,854,538	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104	D65G	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fsip2	A	T	2: 82,977,092	T1252S	probably benign	Het
Gm12500	T	C	3: 108,086,476		probably null	Het
Gm6327	T	C	16: 12,761,113		noncoding transcript	Het
Golga4	T	C	9: 118,537,273	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543	L65Q	probably damaging	Het
Ice1	C	A	13: 70,602,427	V1847L	probably benign	Het
Ift172	T	C	5: 31,257,918		probably benign	Het
Kbtbd7	A	G	14: 79,427,430	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158		probably null	Het
Lgals8	A	T	13: 12,451,395		probably benign	Het
Lrfn5	G	A	12: 61,843,437	G504D	probably damaging	Het
Map6	G	A	7: 99,336,743	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,083,800		probably benign	Het
Myh13	T	A	11: 67,332,520	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427	C350Y	probably benign	Het
Naa25	T	C	5: 121,438,716		probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706	S156P	probably damaging	Het
Pacs1	A	T	19: 5,143,829	D557E	probably damaging	Het
Phactr2	T	C	10: 13,247,139	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,428,252	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734		probably benign	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,634,870	V260A	probably benign	Het
Skint1	T	G	4: 112,028,215		probably benign	Het
Slc33a1	A	G	3: 63,943,304	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721		probably null	Het
Spag7	A	G	11: 70,669,182		probably benign	Het
Sri	A	T	5: 8,059,381	Q55L	probably damaging	Het
Tm9sf1	T	C	14: 55,642,935	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,625,188	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079	Y780*	probably null	Het
Usp24	A	G	4: 106,413,678		probably null	Het
Vmn2r53	A	G	7: 12,601,392	F114L	probably damaging	Het
Zfp626	G	A	7: 27,818,482	R296H	probably damaging	Het

Other mutations in Rilpl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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	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
R4904:Rilpl1	UTSW	5	124514744	splice site	probably null
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'- TTGAAACTGCATAAGCCTCCCGCC -3'
(R):5'- TGTGACAACAGAGACACCAGATGCC -3'

Sequencing Primer
(F):5'- ACTGTTCCAAGCCTGGCAC -3'
(R):5'- GAGACACCAGATGCCATCTTC -3'

Posted On

2013-11-08