Mutagenetix > Incidental Mutation

Incidental Mutation 'R6301:Rilpl1'

509091

Institutional Source

Beutler Lab

Gene Symbol

Rilpl1

Ensembl Gene

ENSMUSG00000029392

Gene Name

Rab interacting lysosomal protein-like 1

Synonyms

2900002H16Rik, 6330559I19Rik, GOSPEL

MMRRC Submission

044466-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124631143-124669454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124652602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 41 (G41W)

Ref Sequence

ENSEMBL: ENSMUSP00000143250 (fasta)

Gene Model

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

AlphaFold

Q9JJC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062153
AA Change: G262W

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050014
Gene: ENSMUSG00000029392
AA Change: G262W

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 damaging
Transcript: ENSMUST00000199125
AA Change: G69W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142887
Gene: ENSMUSG00000029392
AA Change: G69W

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 damaging
Transcript: ENSMUST00000199766
AA Change: G41W

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

SMART Domains

Protein: ENSMUSP00000143250
Gene: ENSMUSG00000029392
AA Change: G41W

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

Meta Mutation Damage Score

0.1107

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	C	T	4: 144,285,224 (GRCm39)	A138T	probably damaging	Het
Acot10	T	C	15: 20,666,348 (GRCm39)	N131S	probably benign	Het
Agbl5	A	G	5: 31,049,177 (GRCm39)	Y220C	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap3b1	A	T	13: 94,664,803 (GRCm39)	Q914L	unknown	Het
Arhgef25	T	C	10: 127,021,751 (GRCm39)	D216G	possibly damaging	Het
Bcas2	T	A	3: 103,079,187 (GRCm39)		probably benign	Het
Bpifb5	A	C	2: 154,072,139 (GRCm39)	H282P	possibly damaging	Het
Ccdc121rt2	A	T	5: 112,598,334 (GRCm39)	I294F	possibly damaging	Het
Ccdc167	A	G	17: 29,924,556 (GRCm39)	I15T	probably damaging	Het
Cd248	A	G	19: 5,120,009 (GRCm39)	N619S	probably benign	Het
Chrna1	A	G	2: 73,400,828 (GRCm39)	F234S	possibly damaging	Het
Clcc1	T	G	3: 108,580,682 (GRCm39)	M332R	probably damaging	Het
Cmklr1	T	A	5: 113,752,999 (GRCm39)	M1L	possibly damaging	Het
Cntnap5c	A	G	17: 58,199,032 (GRCm39)	M109V	probably benign	Het
Coq2	A	G	5: 100,809,729 (GRCm39)	I18T	possibly damaging	Het
Crybg3	T	C	16: 59,350,701 (GRCm39)	S880G	probably damaging	Het
Cubn	A	G	2: 13,482,889 (GRCm39)	C286R	probably damaging	Het
Defa24	T	C	8: 22,225,299 (GRCm39)	V63A	probably benign	Het
Dnah6	C	T	6: 73,063,200 (GRCm39)	R2634H	probably damaging	Het
Dusp8	T	A	7: 141,636,756 (GRCm39)		probably null	Het
Elac1	T	C	18: 73,871,939 (GRCm39)	D352G	probably damaging	Het
Ermap	A	T	4: 119,042,800 (GRCm39)	V241E	probably damaging	Het
Fgf10	T	A	13: 118,852,047 (GRCm39)	M43K	probably benign	Het
Gabrd	A	G	4: 155,471,724 (GRCm39)	V193A	probably damaging	Het
Hectd4	T	G	5: 121,392,283 (GRCm39)	C182W	possibly damaging	Het
Hook3	C	T	8: 26,524,968 (GRCm39)	W26*	probably null	Het
Kif1a	C	A	1: 92,982,663 (GRCm39)	E714*	probably null	Het
Krt6b	T	C	15: 101,587,386 (GRCm39)	E236G	probably damaging	Het
Large2	A	G	2: 92,199,861 (GRCm39)	L209P	probably damaging	Het
Lats1	A	G	10: 7,578,871 (GRCm39)	N665S	probably benign	Het
Lrrc37	A	T	11: 103,509,756 (GRCm39)		probably benign	Het
Lrrtm3	T	C	10: 63,925,001 (GRCm39)	I55M	probably benign	Het
Ltk	A	G	2: 119,582,238 (GRCm39)	S838P	probably damaging	Het
Ltn1	T	C	16: 87,217,194 (GRCm39)	I348V	probably benign	Het
Mag	T	A	7: 30,600,104 (GRCm39)	S559C	probably damaging	Het
Mink1	A	G	11: 70,503,120 (GRCm39)	H1072R	possibly damaging	Het
Mycbp2	T	A	14: 103,392,862 (GRCm39)	Q833L	probably damaging	Het
Myh4	G	A	11: 67,146,159 (GRCm39)	E1406K	possibly damaging	Het
Npc1	C	T	18: 12,330,302 (GRCm39)	V950I	probably benign	Het
Npl	A	G	1: 153,394,627 (GRCm39)		probably null	Het
Or10w3	A	G	19: 13,703,753 (GRCm39)	I43V	probably benign	Het
Or11g27	T	A	14: 50,771,711 (GRCm39)	F281I	probably benign	Het
Or2m13	A	T	16: 19,226,167 (GRCm39)	F200I	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Oxsm	A	T	14: 16,242,220 (GRCm38)	I183N	probably damaging	Het
Pde7a	T	C	3: 19,297,327 (GRCm39)	I108V	probably benign	Het
Pgghg	A	T	7: 140,526,289 (GRCm39)	T585S	probably damaging	Het
Pkhd1l1	G	A	15: 44,452,921 (GRCm39)	D3949N	probably damaging	Het
Ralgapa2	A	T	2: 146,169,331 (GRCm39)	H1777Q	possibly damaging	Het
Rela	G	A	19: 5,695,438 (GRCm39)		probably null	Het
Rp1	T	C	1: 4,417,477 (GRCm39)	K1212E	probably benign	Het
Sgca	A	C	11: 94,863,393 (GRCm39)	L28V	probably damaging	Het
Ssmem1	A	G	6: 30,519,758 (GRCm39)	R148G	probably damaging	Het
St8sia5	A	T	18: 77,333,836 (GRCm39)	N165Y	probably damaging	Het
Tbl2	A	T	5: 135,188,223 (GRCm39)	H339L	probably benign	Het
Tcof1	G	A	18: 60,961,897 (GRCm39)	P718L	probably damaging	Het
Trim72	A	T	7: 127,603,786 (GRCm39)	E44V	possibly damaging	Het
Try10	T	A	6: 41,332,523 (GRCm39)	S60T	probably benign	Het
Usp31	A	T	7: 121,247,499 (GRCm39)	S1315T	possibly damaging	Het
Xrn2	A	G	2: 146,905,262 (GRCm39)	I856V	probably benign	Het

Other mutations in Rilpl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01656:Rilpl1	APN	5	124,641,712 (GRCm39)	missense	probably damaging	1.00
IGL01727:Rilpl1	APN	5	124,669,007 (GRCm39)	missense	possibly damaging	0.50
R0973:Rilpl1	UTSW	5	124,639,951 (GRCm39)	missense	possibly damaging	0.72
R0973:Rilpl1	UTSW	5	124,639,951 (GRCm39)	missense	possibly damaging	0.72
R0973:Rilpl1	UTSW	5	124,639,934 (GRCm39)	missense	probably benign	0.01
R0973:Rilpl1	UTSW	5	124,639,934 (GRCm39)	missense	probably benign	0.01
R0974:Rilpl1	UTSW	5	124,639,951 (GRCm39)	missense	possibly damaging	0.72
R0974:Rilpl1	UTSW	5	124,639,934 (GRCm39)	missense	probably benign	0.01
R1056:Rilpl1	UTSW	5	124,631,900 (GRCm39)	missense	probably damaging	1.00
R1539:Rilpl1	UTSW	5	124,653,618 (GRCm39)	missense	probably damaging	1.00
R1800:Rilpl1	UTSW	5	124,652,719 (GRCm39)	missense	probably damaging	1.00
R1928:Rilpl1	UTSW	5	124,652,813 (GRCm39)	unclassified	probably benign
R4661:Rilpl1	UTSW	5	124,652,751 (GRCm39)	missense	probably benign	0.32
R4804:Rilpl1	UTSW	5	124,631,828 (GRCm39)	missense	probably damaging	1.00
R4904:Rilpl1	UTSW	5	124,652,807 (GRCm39)	splice site	probably null
R4937:Rilpl1	UTSW	5	124,653,594 (GRCm39)	missense	possibly damaging	0.64
R5034:Rilpl1	UTSW	5	124,631,887 (GRCm39)	missense	probably damaging	1.00
R7009:Rilpl1	UTSW	5	124,641,755 (GRCm39)	synonymous	silent
R7681:Rilpl1	UTSW	5	124,668,976 (GRCm39)	missense	possibly damaging	0.82
R7788:Rilpl1	UTSW	5	124,634,200 (GRCm39)	splice site	probably null
R8378:Rilpl1	UTSW	5	124,668,964 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACCTTCTTTGCTACAATGGGA -3'
(R):5'- TCAACCATGACCTTCGGCA -3'

Sequencing Primer
(F):5'- TACCCCTTGTCACTAGATAGGAGAG -3'
(R):5'- ATGACCTTCGGCACCGGG -3'

Posted On

2018-04-02