Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02664:Rab15'

302644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab15

Ensembl Gene

ENSMUSG00000021062

Gene Name

RAB15, member RAS oncogene family

Synonyms

2310012G06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02664

Quality Score

Status

Chromosome

Chromosomal Location

76844734-76869532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76851225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 30 (I30M)

Ref Sequence

ENSEMBL: ENSMUSP00000112457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021459] [ENSMUST00000118604] [ENSMUST00000121716] [ENSMUST00000122419] [ENSMUST00000125842] [ENSMUST00000137826] [ENSMUST00000141622] [ENSMUST00000154765]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021459
AA Change: I59M

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021459
Gene: ENSMUSG00000021062
AA Change: I59M

Domain	Start	End	E-Value	Type
RAB	9	172	2.04e-102	SMART
low complexity region	187	197	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118604
AA Change: I13M

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112789
Gene: ENSMUSG00000021062
AA Change: I13M

Domain	Start	End	E-Value	Type
RAB	1	126	1.21e-54	SMART
low complexity region	141	151	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121716
AA Change: I13M

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113299
Gene: ENSMUSG00000021062
AA Change: I13M

Domain	Start	End	E-Value	Type
RAB	1	126	1.21e-54	SMART
low complexity region	141	151	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122419
AA Change: I30M

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112457
Gene: ENSMUSG00000021062
AA Change: I30M

Domain	Start	End	E-Value	Type
RAB	14	143	3.04e-60	SMART
low complexity region	158	168	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125842

SMART Domains

Protein: ENSMUSP00000116906
Gene: ENSMUSG00000033373

Domain	Start	End	E-Value	Type
Pfam:Churchill	1	65	2.4e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134124

Predicted Effect

probably benign
Transcript: ENSMUST00000137826

SMART Domains

Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373

Domain	Start	End	E-Value	Type
Pfam:Churchill	1	92	1.9e-42	PFAM
Pfam:Prenyltrans	157	198	5.1e-16	PFAM
Pfam:Prenyltrans	206	249	2.8e-13	PFAM
Pfam:Prenyltrans	255	297	1e-14	PFAM
Pfam:Prenyltrans	302	346	1.6e-12	PFAM
Pfam:Prenyltrans	364	408	1.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141622
AA Change: I13M

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000115720
Gene: ENSMUSG00000021062
AA Change: I13M

Domain	Start	End	E-Value	Type
Pfam:Miro	1	78	1.4e-11	PFAM
Pfam:Arf	1	113	6.9e-7	PFAM
Pfam:Ras	1	114	3.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154765
AA Change: I13M

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000122067
Gene: ENSMUSG00000021062
AA Change: I13M

Domain	Start	End	E-Value	Type
RAB	1	126	1.21e-54	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143863

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	T	5: 36,006,860 (GRCm39)	D425V	probably damaging	Het
Afdn	G	T	17: 14,072,728 (GRCm39)		probably benign	Het
Afg2a	A	G	3: 37,490,814 (GRCm39)	D453G	probably damaging	Het
Ap2a2	C	T	7: 141,209,136 (GRCm39)	T776I	probably benign	Het
Apcdd1	T	C	18: 63,084,891 (GRCm39)		probably benign	Het
Bdp1	A	T	13: 100,188,047 (GRCm39)	Y1513N	probably benign	Het
Btaf1	T	C	19: 36,955,828 (GRCm39)		probably benign	Het
C2cd3	A	T	7: 100,068,922 (GRCm39)	M917L	possibly damaging	Het
Cmtm6	T	C	9: 114,575,613 (GRCm39)	V174A	probably benign	Het
Cyp2d12	T	A	15: 82,443,535 (GRCm39)	I448K	probably benign	Het
Ddb1	A	G	19: 10,585,247 (GRCm39)	I101V	probably benign	Het
Dicer1	A	G	12: 104,671,388 (GRCm39)	Y961H	probably damaging	Het
Dnaaf1	T	G	8: 120,309,260 (GRCm39)	I116S	probably damaging	Het
Ecscr	T	A	18: 35,854,451 (GRCm39)	I5F	possibly damaging	Het
Eftud2	T	C	11: 102,732,538 (GRCm39)	E691G	probably damaging	Het
Fat2	A	G	11: 55,201,922 (GRCm39)	V384A	probably damaging	Het
Ftcd	T	C	10: 76,420,439 (GRCm39)	M391T	probably damaging	Het
Gab2	T	G	7: 96,953,389 (GRCm39)	S587R	probably damaging	Het
Gm18856	G	A	13: 14,139,809 (GRCm39)		probably benign	Het
Herc2	A	T	7: 55,785,426 (GRCm39)	R1559*	probably null	Het
Inpp5f	G	A	7: 128,265,738 (GRCm39)	R161H	probably damaging	Het
Iws1	A	T	18: 32,203,217 (GRCm39)	D31V	possibly damaging	Het
Klhl2	A	T	8: 65,205,801 (GRCm39)	Y373*	probably null	Het
Lce6a	A	T	3: 92,527,607 (GRCm39)	C67S	possibly damaging	Het
Lrba	A	G	3: 86,233,038 (GRCm39)	I800V	possibly damaging	Het
Mis18bp1	A	C	12: 65,200,654 (GRCm39)	Y407*	probably null	Het
Mllt3	A	C	4: 87,949,860 (GRCm39)	W29G	probably damaging	Het
Mon2	A	G	10: 122,845,401 (GRCm39)		probably benign	Het
Mtbp	C	T	15: 55,483,039 (GRCm39)	T372M	probably benign	Het
Nefm	A	T	14: 68,357,664 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,335,424 (GRCm39)		probably null	Het
Nf1	G	A	11: 79,335,425 (GRCm39)		probably null	Het
Ntn1	T	A	11: 68,276,295 (GRCm39)	I218F	probably benign	Het
Numa1	T	G	7: 101,648,109 (GRCm39)	S613R	possibly damaging	Het
Or14a259	C	T	7: 86,012,811 (GRCm39)	V245I	possibly damaging	Het
Pcsk5	A	T	19: 17,434,134 (GRCm39)	D1411E	probably damaging	Het
Prl2b1	G	T	13: 27,569,225 (GRCm39)	N124K	possibly damaging	Het
Rnf215	G	T	11: 4,090,307 (GRCm39)	V342L	probably damaging	Het
Saxo4	A	T	19: 10,459,655 (GRCm39)	S17R	probably damaging	Het
Togaram2	T	A	17: 72,036,234 (GRCm39)	I908N	probably damaging	Het
Trim54	A	G	5: 31,293,391 (GRCm39)	N205S	probably damaging	Het
Ttn	G	A	2: 76,697,795 (GRCm39)	T80I	possibly damaging	Het
Vmn2r106	G	A	17: 20,488,344 (GRCm39)	T685I	possibly damaging	Het
Vwa5b2	T	C	16: 20,414,063 (GRCm39)		probably benign	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp40	G	A	17: 23,395,960 (GRCm39)	S209F	probably benign	Het

Other mutations in Rab15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4486001:Rab15	UTSW	12	76,848,716 (GRCm39)	nonsense	probably null
R4594:Rab15	UTSW	12	76,847,445 (GRCm39)	intron	probably benign
R5009:Rab15	UTSW	12	76,847,341 (GRCm39)	missense	probably damaging	1.00
R5959:Rab15	UTSW	12	76,869,043 (GRCm39)	missense	probably damaging	1.00
R5972:Rab15	UTSW	12	76,847,377 (GRCm39)	missense	probably damaging	0.99
R6878:Rab15	UTSW	12	76,851,257 (GRCm39)	missense	probably benign	0.16
R7592:Rab15	UTSW	12	76,851,223 (GRCm39)	missense	probably damaging	1.00
R7764:Rab15	UTSW	12	76,851,215 (GRCm39)	critical splice donor site	probably null
R7861:Rab15	UTSW	12	76,849,903 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16