Mutagenetix > Incidental Mutation

Incidental Mutation 'R5034:Rilpl1'

389437

Institutional Source

Beutler Lab

Gene Symbol

Rilpl1

Ensembl Gene

ENSMUSG00000029392

Gene Name

Rab interacting lysosomal protein-like 1

Synonyms

2900002H16Rik, 6330559I19Rik, GOSPEL

MMRRC Submission

042625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124631143-124669454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124631887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 153 (D153G)

Ref Sequence

ENSEMBL: ENSMUSP00000143250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031349] [ENSMUST00000062153] [ENSMUST00000111453] [ENSMUST00000136567] [ENSMUST00000199125] [ENSMUST00000199766]

AlphaFold

Q9JJC6

Predicted Effect

probably benign
Transcript: ENSMUST00000031349

SMART Domains

Protein: ENSMUSP00000031349
Gene: ENSMUSG00000029402

Domain	Start	End	E-Value	Type
RRM	52	125	7.24e-21	SMART
low complexity region	132	146	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
low complexity region	224	243	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000062153
AA Change: D366G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050014
Gene: ENSMUSG00000029392
AA Change: D366G

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: ENSMUST00000111453

SMART Domains

Protein: ENSMUSP00000107080
Gene: ENSMUSG00000029402

Domain	Start	End	E-Value	Type
RRM	52	125	7.24e-21	SMART
low complexity region	132	146	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
low complexity region	224	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136567

SMART Domains

Protein: ENSMUSP00000121120
Gene: ENSMUSG00000029402

Domain	Start	End	E-Value	Type
RRM	52	121	6.16e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199125

SMART Domains

Protein: ENSMUSP00000142887
Gene: ENSMUSG00000029392

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: D153G

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

SMART Domains

Protein: ENSMUSP00000143250
Gene: ENSMUSG00000029392
AA Change: D153G

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

0.1801

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,090 (GRCm39)	S482T	probably benign	Het
Adam6b	G	T	12: 113,454,547 (GRCm39)	G455C	probably damaging	Het
Ahsg	C	A	16: 22,717,650 (GRCm39)	P237Q	probably damaging	Het
Asxl2	A	G	12: 3,552,193 (GRCm39)	S1312G	probably damaging	Het
Brinp3	C	T	1: 146,603,458 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,564,649 (GRCm39)	H1677R	probably damaging	Het
Cops7a	A	G	6: 124,939,583 (GRCm39)		probably null	Het
Csmd2	G	A	4: 127,952,901 (GRCm39)	A117T	probably damaging	Het
Csmd3	T	C	15: 47,492,683 (GRCm39)	R3153G	possibly damaging	Het
Dctn4	A	G	18: 60,685,956 (GRCm39)	N342D	probably benign	Het
Dennd5a	A	T	7: 109,499,004 (GRCm39)	I953N	probably damaging	Het
Dmwd	T	C	7: 18,814,219 (GRCm39)	S290P	probably damaging	Het
Dsc1	T	A	18: 20,228,084 (GRCm39)	Y424F	possibly damaging	Het
Far2	C	A	6: 148,074,939 (GRCm39)	L391M	probably benign	Het
Foxd3	G	A	4: 99,545,327 (GRCm39)	G156S	probably damaging	Het
Galk2	A	T	2: 125,771,495 (GRCm39)	E173D	probably benign	Het
Hcar1	T	C	5: 124,017,732 (GRCm39)		probably benign	Het
Hsd17b11	C	T	5: 104,166,087 (GRCm39)	V91M	possibly damaging	Het
Ighv1-77	C	T	12: 115,825,494 (GRCm39)	C115Y	probably damaging	Het
Ighv9-2	A	G	12: 114,073,025 (GRCm39)	F9S	probably damaging	Het
Kdm6b	A	G	11: 69,292,736 (GRCm39)		probably benign	Het
Kif21a	T	A	15: 90,852,561 (GRCm39)	R890W	probably null	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Magel2	A	T	7: 62,029,616 (GRCm39)	H840L	unknown	Het
Mrgpra4	A	G	7: 47,631,317 (GRCm39)	F95L	probably benign	Het
Myo7b	A	G	18: 32,104,440 (GRCm39)	L1436P	probably damaging	Het
Nf1	C	T	11: 79,334,976 (GRCm39)	P943S	probably damaging	Het
Obscn	T	A	11: 58,952,502 (GRCm39)	R4153*	probably null	Het
Oosp2	T	C	19: 11,628,899 (GRCm39)	I67M	probably damaging	Het
Or5m13b	C	A	2: 85,753,891 (GRCm39)	S93Y	probably damaging	Het
Pcdh9	T	A	14: 93,564,285 (GRCm39)	D1023V	probably benign	Het
Pcdhb14	T	C	18: 37,581,859 (GRCm39)	S322P	probably damaging	Het
Pde2a	A	G	7: 101,151,231 (GRCm39)	D285G	probably benign	Het
Pde5a	G	C	3: 122,646,235 (GRCm39)	G809R	probably damaging	Het
Pde5a	G	T	3: 122,646,236 (GRCm39)	G809V	probably damaging	Het
Pphln1	T	C	15: 93,350,010 (GRCm39)	V120A	probably benign	Het
Rictor	T	C	15: 6,797,576 (GRCm39)	S311P	probably damaging	Het
Rmdn3	G	T	2: 118,978,058 (GRCm39)	A181E	probably damaging	Het
Rnf213	G	A	11: 119,301,633 (GRCm39)	V369M	probably damaging	Het
Scyl1	T	A	19: 5,810,022 (GRCm39)	R601S	probably benign	Het
Sdcbp	G	A	4: 6,393,118 (GRCm39)		probably null	Het
Septin8	A	G	11: 53,425,265 (GRCm39)	T53A	probably damaging	Het
Sfpq	A	G	4: 126,917,462 (GRCm39)		probably benign	Het
Slc35b3	A	G	13: 39,127,134 (GRCm39)	Y163H	probably damaging	Het
Sra1	A	G	18: 36,812,048 (GRCm39)		probably null	Het
Sspo	A	T	6: 48,457,757 (GRCm39)	N3231Y	possibly damaging	Het
Tcf3	A	G	10: 80,253,377 (GRCm39)	V218A	possibly damaging	Het
Tgm3	T	C	2: 129,879,404 (GRCm39)	V332A	possibly damaging	Het
Tmprss11f	C	T	5: 86,739,243 (GRCm39)		probably benign	Het
Trbv4	A	G	6: 41,036,624 (GRCm39)	T50A	probably benign	Het
Trdv2-2	C	A	14: 54,198,882 (GRCm39)	Y57*	probably null	Het
Trim50	T	C	5: 135,396,147 (GRCm39)	V365A	possibly damaging	Het
Ubash3b	T	C	9: 40,941,036 (GRCm39)	Q245R	probably benign	Het
Ulk3	T	A	9: 57,501,047 (GRCm39)	V338E	possibly damaging	Het
Usf3	A	C	16: 44,036,762 (GRCm39)	K414T	probably damaging	Het
Usp48	C	T	4: 137,334,068 (GRCm39)	R161*	probably null	Het
Vps18	A	T	2: 119,123,787 (GRCm39)	D238V	probably benign	Het
Vps35l	T	C	7: 118,390,611 (GRCm39)	V368A	probably damaging	Het
Zfp354c	T	C	11: 50,705,866 (GRCm39)	E403G	probably benign	Het
Zscan18	A	G	7: 12,508,072 (GRCm39)	V476A	probably damaging	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
R6301:Rilpl1	UTSW	5	124,652,602 (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'- TCAGTCCTCAAAGCAGACAGTTC -3'
(R):5'- GAGACCCCAGTGCTTTCTAG -3'

Sequencing Primer
(F):5'- CCTCAAAGCAGACAGTTCGTTTGAG -3'
(R):5'- GAGACCCCAGTGCTTTCTAGAATTC -3'

Posted On

2016-06-06