Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4486001:Rab15'

556122

Institutional Source

Beutler Lab

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 #

PIT4486001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76844734-76869532 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 76848716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 122 (K122*)

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 null
Transcript: ENSMUST00000021459
AA Change: K122*

SMART Domains

Protein: ENSMUSP00000021459
Gene: ENSMUSG00000021062
AA Change: K122*

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

Predicted Effect

probably null
Transcript: ENSMUST00000118604
AA Change: K76*

SMART Domains

Protein: ENSMUSP00000112789
Gene: ENSMUSG00000021062
AA Change: K76*

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

Predicted Effect

probably null
Transcript: ENSMUST00000121716
AA Change: K76*

SMART Domains

Protein: ENSMUSP00000113299
Gene: ENSMUSG00000021062
AA Change: K76*

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

Predicted Effect

probably null
Transcript: ENSMUST00000122419
AA Change: K93*

SMART Domains

Protein: ENSMUSP00000112457
Gene: ENSMUSG00000021062
AA Change: K93*

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

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 null
Transcript: ENSMUST00000141622
AA Change: K76*

SMART Domains

Protein: ENSMUSP00000115720
Gene: ENSMUSG00000021062
AA Change: K76*

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 null
Transcript: ENSMUST00000154765
AA Change: K76*

SMART Domains

Protein: ENSMUSP00000122067
Gene: ENSMUSG00000021062
AA Change: K76*

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

Coding Region Coverage

1x: 93.0%
3x: 90.5%
10x: 84.1%
20x: 70.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,980,914 (GRCm39)	S108P	probably damaging	Het
Abhd16b	A	T	2: 181,135,752 (GRCm39)	Q218L	probably benign	Het
Abhd3	T	A	18: 10,645,233 (GRCm39)	I354F	probably benign	Het
Abt1	T	C	13: 23,607,851 (GRCm39)	Y51C	possibly damaging	Het
Actl9	T	A	17: 33,653,172 (GRCm39)	Y411N	possibly damaging	Het
Ano4	A	G	10: 88,828,891 (GRCm39)	V516A	probably damaging	Het
Bptf	A	T	11: 106,945,614 (GRCm39)	S2542T	probably damaging	Het
Card11	C	T	5: 140,862,163 (GRCm39)	V1045M	probably damaging	Het
Ccdc121	T	A	5: 31,645,087 (GRCm39)	I280K	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdh3	A	G	8: 107,268,122 (GRCm39)	K386E	possibly damaging	Het
Cks1b	C	A	3: 89,323,621 (GRCm39)	Q49H	probably damaging	Het
Clpb	A	T	7: 101,313,139 (GRCm39)	D41V	probably benign	Het
Cyp3a11	A	T	5: 145,797,302 (GRCm39)	M359K	probably damaging	Het
Cyp3a13	A	T	5: 137,908,228 (GRCm39)	I207N	probably benign	Het
Dennd4c	T	A	4: 86,717,701 (GRCm39)	L566*	probably null	Het
Dhtkd1	A	T	2: 5,904,806 (GRCm39)	D859E	probably benign	Het
Efcab6	T	C	15: 83,857,514 (GRCm39)	D295G	probably benign	Het
Fcgbp	A	G	7: 27,774,698 (GRCm39)	T91A	possibly damaging	Het
Gm11569	GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA	GCA	11: 99,689,491 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,528,880 (GRCm39)	K454E	unknown	Het
Herc1	T	A	9: 66,279,671 (GRCm39)	I193N	probably damaging	Het
Kdm5b	T	A	1: 134,556,423 (GRCm39)	L1370Q	probably damaging	Het
Lrrc37	A	T	11: 103,509,027 (GRCm39)	H980Q	unknown	Het
Map4	T	G	9: 109,901,682 (GRCm39)	V965G	probably damaging	Het
Mkrn2os	T	C	6: 115,562,444 (GRCm39)	D173G	probably benign	Het
Ndfip2	A	G	14: 105,532,300 (GRCm39)	D232G	probably damaging	Het
Nipal2	C	T	15: 34,584,875 (GRCm39)	G231D	probably damaging	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Or5p68	A	G	7: 107,945,529 (GRCm39)	S220P	possibly damaging	Het
Or8g50	T	A	9: 39,648,535 (GRCm39)	C141*	probably null	Het
Prkar2a	T	C	9: 108,610,326 (GRCm39)	L185S	probably damaging	Het
Ptpn9	T	G	9: 56,968,287 (GRCm39)	N542K	probably damaging	Het
Pus10	G	A	11: 23,662,326 (GRCm39)		probably null	Het
Pyroxd2	A	G	19: 42,728,828 (GRCm39)	S191P	probably benign	Het
Rara	A	G	11: 98,864,321 (GRCm39)	N416S	possibly damaging	Het
Rims2	T	C	15: 39,339,916 (GRCm39)	V870A	possibly damaging	Het
Sec16a	T	C	2: 26,315,785 (GRCm39)	T293A		Het
Slc26a3	G	A	12: 31,520,949 (GRCm39)	D718N	probably benign	Het
Slc44a5	G	A	3: 153,964,659 (GRCm39)	V520I	possibly damaging	Het
Spata31e2	G	A	1: 26,724,410 (GRCm39)	P257S	probably damaging	Het
Tgfb2	A	T	1: 186,422,924 (GRCm39)	Y142N	probably benign	Het
Tgfbi	A	T	13: 56,777,607 (GRCm39)	I364F	probably damaging	Het
Tmem144	A	C	3: 79,734,174 (GRCm39)	D176E	probably benign	Het
Tns4	A	T	11: 98,962,161 (GRCm39)	L612Q	probably damaging	Het
Toe1	A	G	4: 116,663,692 (GRCm39)	L76S	probably damaging	Het
Trank1	T	C	9: 111,219,175 (GRCm39)	F1971L	probably damaging	Het
Tsen54	G	T	11: 115,713,422 (GRCm39)	V481F	probably damaging	Het
Uimc1	A	G	13: 55,223,381 (GRCm39)	L297P	probably damaging	Het
Wnt8a	T	C	18: 34,680,636 (GRCm39)	Y334H	probably damaging	Het
Zfp281	A	G	1: 136,554,741 (GRCm39)	D573G	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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGCACCACCCTGTTTAG -3'
(R):5'- TAGGGGCTCCTGTACAATGG -3'

Sequencing Primer
(F):5'- TTGCCTGAGAGCGCTTAC -3'
(R):5'- CCTGTACAATGGGAGCCTGTTC -3'

Posted On

2019-06-07