Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03131:Rab39'

410338

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab39

Ensembl Gene

ENSMUSG00000055069

Gene Name

RAB39, member RAS oncogene family

Synonyms

C230094F14Rik, Rab39a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

53684110-53706232 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53686561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 135 (R135C)

Ref Sequence

ENSEMBL: ENSMUSP00000063804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068449]

AlphaFold

Q8BHD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000068449
AA Change: R135C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063804
Gene: ENSMUSG00000055069
AA Change: R135C

Domain	Start	End	E-Value	Type
RAB	9	178	8.35e-99	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118010

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,679,602	R135S	unknown	Het
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Abca12	A	T	1: 71,346,702	F252L	probably benign	Het
Abcd3	A	T	3: 121,781,991		probably benign	Het
Acvr2b	C	A	9: 119,431,284	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,564	C1564R	probably damaging	Het
Agap3	A	G	5: 24,477,132	T392A	probably benign	Het
Ano1	A	G	7: 144,603,585	F767L	possibly damaging	Het
Atg10	C	A	13: 90,937,293	R179I	probably null	Het
Bsph1	A	T	7: 13,473,087	K129N	probably damaging	Het
Calml4	A	G	9: 62,875,483	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,143,427	K153M	probably damaging	Het
Col4a2	G	A	8: 11,425,979	V672I	probably benign	Het
Crnkl1	T	C	2: 145,932,258	K95R	probably benign	Het
Crtap	T	C	9: 114,380,004	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,088,217	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,451,688	I369R	probably benign	Het
Dmc1	T	A	15: 79,568,691	I246L	probably benign	Het
Dock1	G	T	7: 134,874,183	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,870,183	T112M	probably damaging	Het
F5	A	T	1: 164,161,819	I97F	possibly damaging	Het
Fam208a	C	T	14: 27,461,179	Q532*	probably null	Het
Fasn	C	T	11: 120,810,724	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,281,511	V414A	probably benign	Het
Gpd2	T	C	2: 57,338,843		probably benign	Het
Gria4	T	G	9: 4,432,876	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,157,620	F885I	probably damaging	Het
Ifi209	C	T	1: 173,641,234	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,315,361	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,307,703	A120V	probably benign	Het
Mef2c	T	C	13: 83,662,375	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,307,692	L171I	probably benign	Het
Myf6	T	A	10: 107,494,271	Q145L	probably damaging	Het
Myh3	G	A	11: 67,091,109		probably benign	Het
Nbas	A	G	12: 13,279,416	I121V	probably benign	Het
Ncoa2	A	T	1: 13,177,174	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,161,915	D896N	possibly damaging	Het
Prss41	A	G	17: 23,842,524	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,517,559	T450S	probably benign	Het
Radil	A	G	5: 142,495,342	V570A	probably damaging	Het
Sbno1	C	T	5: 124,388,605	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,882,878	K98*	probably null	Het
Serbp1	T	A	6: 67,281,823		probably null	Het
Serpinb3c	G	T	1: 107,271,727	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,231,234	D307A	probably benign	Het
Smarcad1	T	A	6: 65,074,953	S357T	probably damaging	Het
Spag17	G	A	3: 100,010,759	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,830,765	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,057,490	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,988,168	V227F	probably damaging	Het
Syt12	T	C	19: 4,456,854	T88A	probably benign	Het
Tlr12	A	G	4: 128,615,877	F860S	probably damaging	Het
Trdn	C	A	10: 33,398,414	S461*	probably null	Het
Trip4	G	A	9: 65,857,445	P413S	probably benign	Het
Wdr17	A	G	8: 54,696,267		probably null	Het
Wnt9a	T	C	11: 59,331,029	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,573,294	K618*	probably null	Het
Zfp759	T	C	13: 67,138,664	L93P	probably damaging	Het

Other mutations in Rab39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0207:Rab39	UTSW	9	53705971	missense	possibly damaging	0.71
R0238:Rab39	UTSW	9	53706030	missense	probably damaging	0.98
R0238:Rab39	UTSW	9	53706030	missense	probably damaging	0.98
R0529:Rab39	UTSW	9	53686716	missense	probably damaging	1.00
R1869:Rab39	UTSW	9	53705931	missense	possibly damaging	0.82
R2020:Rab39	UTSW	9	53686398	missense	possibly damaging	0.78
R3967:Rab39	UTSW	9	53686632	missense	possibly damaging	0.52
R3968:Rab39	UTSW	9	53686632	missense	possibly damaging	0.52
R3969:Rab39	UTSW	9	53686632	missense	possibly damaging	0.52
R4128:Rab39	UTSW	9	53686504	missense	probably benign	0.01
R4394:Rab39	UTSW	9	53686650	missense	probably benign
R5173:Rab39	UTSW	9	53686500	missense	probably damaging	1.00
R5839:Rab39	UTSW	9	53706087	missense	probably damaging	1.00
R6351:Rab39	UTSW	9	53686521	missense	probably benign
R6521:Rab39	UTSW	9	53706031	missense	probably benign	0.28
R6908:Rab39	UTSW	9	53706069	missense	probably damaging	1.00
R7747:Rab39	UTSW	9	53686400	missense	probably benign
R8078:Rab39	UTSW	9	53705955	missense	possibly damaging	0.88
R8285:Rab39	UTSW	9	53705931	missense	probably damaging	1.00
R9200:Rab39	UTSW	9	53686365	missense	probably benign	0.06
R9406:Rab39	UTSW	9	53686615	missense	probably damaging	0.98
Z1177:Rab39	UTSW	9	53686714	missense	probably damaging	1.00

Posted On

2016-08-02