Mutagenetix > Incidental Mutation

Incidental Mutation 'R5972:Rab15'

471481

Institutional Source

Beutler Lab

Gene Symbol

Rab15

Ensembl Gene

ENSMUSG00000021062

Gene Name

RAB15, member RAS oncogene family

Synonyms

2310012G06Rik

MMRRC Submission

044155-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76844734-76869532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76847377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 148 (Y148C)

Ref Sequence

ENSEMBL: ENSMUSP00000021459 (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 damaging
Transcript: ENSMUST00000021459
AA Change: Y148C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021459
Gene: ENSMUSG00000021062
AA Change: Y148C

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: Y102C

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

SMART Domains

Protein: ENSMUSP00000112789
Gene: ENSMUSG00000021062
AA Change: Y102C

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: Y102C

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

SMART Domains

Protein: ENSMUSP00000113299
Gene: ENSMUSG00000021062
AA Change: Y102C

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: Y119C

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112457
Gene: ENSMUSG00000021062
AA Change: Y119C

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

possibly damaging
Transcript: ENSMUST00000141622
AA Change: Y102C

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115720
Gene: ENSMUSG00000021062
AA Change: Y102C

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

noncoding transcript
Transcript: ENSMUST00000143863

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154765
AA Change: Y102C

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122067
Gene: ENSMUSG00000021062
AA Change: Y102C

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	A	6: 58,649,070 (GRCm39)	M305K	probably benign	Het
Accs	G	T	2: 93,669,572 (GRCm39)	H283N	probably damaging	Het
Actl6b	A	T	5: 137,564,818 (GRCm39)	H283L	possibly damaging	Het
Adgra1	T	C	7: 139,425,583 (GRCm39)	L32P	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arfgef2	T	C	2: 166,733,756 (GRCm39)	I1672T	probably damaging	Het
Bambi	T	A	18: 3,512,354 (GRCm39)	V246E	probably damaging	Het
BC048679	A	G	7: 81,145,479 (GRCm39)	L29P	probably damaging	Het
Bmal2	A	G	6: 146,711,187 (GRCm39)	M64V	probably damaging	Het
Camk4	T	C	18: 33,240,979 (GRCm39)	L92P	probably damaging	Het
Ddx11	C	A	17: 66,455,085 (GRCm39)	Q655K	probably benign	Het
Ddx52	A	G	11: 83,844,051 (GRCm39)		probably null	Het
Entrep3	T	A	3: 89,093,115 (GRCm39)	V213D	probably damaging	Het
Eps8l3	T	C	3: 107,791,763 (GRCm39)		probably null	Het
Erap1	T	A	13: 74,810,423 (GRCm39)		probably null	Het
Flg	T	A	3: 93,186,849 (GRCm39)	N100K	probably benign	Het
Grip2	A	T	6: 91,784,262 (GRCm39)	V13E	probably benign	Het
Iars1	T	C	13: 49,863,108 (GRCm39)	V520A	possibly damaging	Het
Impa1	A	G	3: 10,394,064 (GRCm39)	M1T	probably null	Het
Ip6k3	T	C	17: 27,368,934 (GRCm39)	T179A	possibly damaging	Het
Krt87	T	A	15: 101,385,467 (GRCm39)	M302L	probably benign	Het
Lrp8	T	C	4: 107,726,267 (GRCm39)	Y899H	probably damaging	Het
Lrpprc	A	T	17: 85,020,250 (GRCm39)	I1145N	possibly damaging	Het
Mapk11	A	T	15: 89,028,387 (GRCm39)	D324E	probably benign	Het
Melk	C	T	4: 44,351,007 (GRCm39)	T516I	probably benign	Het
Mia2	C	T	12: 59,193,723 (GRCm39)	H130Y	probably damaging	Het
Mroh5	C	T	15: 73,662,568 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,418,829 (GRCm39)	T824A	possibly damaging	Het
Neurog1	T	C	13: 56,399,211 (GRCm39)	S179G	probably damaging	Het
Ntrk2	T	A	13: 58,985,633 (GRCm39)	L79Q	probably damaging	Het
Patj	T	A	4: 98,457,290 (GRCm39)	M46K	probably damaging	Het
Pdcd6ip	T	C	9: 113,491,366 (GRCm39)	K626E	probably benign	Het
Pdss2	T	A	10: 43,174,922 (GRCm39)	Y143N	probably damaging	Het
Pkhd1l1	G	A	15: 44,408,812 (GRCm39)	S2433N	probably damaging	Het
Plekha5	A	G	6: 140,518,639 (GRCm39)	T309A	possibly damaging	Het
Prdm4	C	T	10: 85,743,365 (GRCm39)	V297M	probably damaging	Het
Ryr3	A	T	2: 112,664,409 (GRCm39)	N1627K	probably damaging	Het
Scn1a	G	T	2: 66,181,454 (GRCm39)	A23E	possibly damaging	Het
Smtn	A	T	11: 3,483,486 (GRCm39)	I30N	probably damaging	Het
Sympk	A	G	7: 18,780,749 (GRCm39)	K751E	probably benign	Het
Usp24	C	T	4: 106,225,264 (GRCm39)	P632L	probably damaging	Het
Vmn2r106	A	G	17: 20,498,738 (GRCm39)	I391T	probably benign	Het
Vmn2r54	G	A	7: 12,349,279 (GRCm39)	P768S	probably damaging	Het
Vmn2r54	C	T	7: 12,369,874 (GRCm39)	C63Y	probably damaging	Het
Zfhx3	T	G	8: 109,677,483 (GRCm39)	C2844W	possibly damaging	Het

Other mutations in Rab15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02664:Rab15	APN	12	76,851,225 (GRCm39)	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- GGAACACACGTTAGGCTAGC -3'
(R):5'- TGGATGAAATGGGTGCACAC -3'

Sequencing Primer
(F):5'- GGAACACACGTTAGGCTAGCCTATC -3'
(R):5'- TCTCTGCCAGCCTATGTCCTAAAAAG -3'

Posted On

2017-03-31