Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02465:Rasef'

294542

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasef

Ensembl Gene

ENSMUSG00000043003

Gene Name

RAS and EF hand domain containing

Synonyms

RAB45

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02465

Quality Score

Status

Chromosome

Chromosomal Location

73632816-73709231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73652725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 439 (T439N)

Ref Sequence

ENSEMBL: ENSMUSP00000099901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058292] [ENSMUST00000102837] [ENSMUST00000222414]

AlphaFold

Q5RI75

Predicted Effect

probably damaging
Transcript: ENSMUST00000058292
AA Change: T511N

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

SMART Domains

Protein: ENSMUSP00000062771
Gene: ENSMUSG00000043003
AA Change: T511N

Domain	Start	End	E-Value	Type
low complexity region	20	34	N/A	INTRINSIC
coiled coil region	55	251	N/A	INTRINSIC
RAB	429	598	4.94e-69	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102837
AA Change: T439N

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

SMART Domains

Protein: ENSMUSP00000099901
Gene: ENSMUSG00000043003
AA Change: T439N

Domain	Start	End	E-Value	Type
coiled coil region	5	179	N/A	INTRINSIC
RAB	357	526	4.94e-69	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000222414
AA Change: T592N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	A	G	12: 4,250,906 (GRCm39)	D555G	probably benign	Het
Anks1b	T	A	10: 89,999,127 (GRCm39)	C411*	probably null	Het
Atp5pf	A	T	16: 84,625,358 (GRCm39)	Y82N	probably damaging	Het
Cd19	A	T	7: 126,012,730 (GRCm39)	V221D	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cyp4f13	A	T	17: 33,148,110 (GRCm39)		probably null	Het
Ddrgk1	T	C	2: 130,496,629 (GRCm39)	D245G	probably damaging	Het
Eya2	A	G	2: 165,557,872 (GRCm39)	D156G	possibly damaging	Het
Gm42763	T	C	9: 110,374,365 (GRCm39)		probably benign	Het
Gtdc1	T	C	2: 44,460,435 (GRCm39)	Y417C	probably damaging	Het
Map1b	T	C	13: 99,569,914 (GRCm39)	T936A	unknown	Het
Med23	G	A	10: 24,779,641 (GRCm39)	R906K	probably damaging	Het
Mill2	G	A	7: 18,592,168 (GRCm39)	W263*	probably null	Het
Mup20	T	C	4: 61,970,237 (GRCm39)	N107D	possibly damaging	Het
Neb	A	G	2: 52,083,177 (GRCm39)		probably benign	Het
Ntrk2	A	G	13: 59,208,194 (GRCm39)	N680S	probably damaging	Het
Or12d2	A	C	17: 37,624,802 (GRCm39)	S158A	probably damaging	Het
Or9a2	C	T	6: 41,748,490 (GRCm39)	V248I	probably damaging	Het
Pde3a	A	G	6: 141,195,401 (GRCm39)	H29R	possibly damaging	Het
Pik3c3	T	C	18: 30,477,113 (GRCm39)	I878T	probably damaging	Het
Plxnd1	A	G	6: 115,932,703 (GRCm39)	*1926R	probably null	Het
Prl8a9	T	A	13: 27,743,432 (GRCm39)	L124F	probably damaging	Het
Proser3	A	T	7: 30,242,958 (GRCm39)	N206K	possibly damaging	Het
Slc6a18	T	C	13: 73,825,904 (GRCm39)	T49A	probably benign	Het
Spag17	A	C	3: 99,983,187 (GRCm39)	T1496P	probably damaging	Het
Vmn1r63	A	C	7: 5,806,038 (GRCm39)	V198G	probably damaging	Het
Vmn2r112	T	C	17: 22,833,975 (GRCm39)	S548P	probably damaging	Het
Vps13a	T	C	19: 16,688,305 (GRCm39)	D834G	probably benign	Het
Vps8	A	T	16: 21,340,653 (GRCm39)	N799I	probably damaging	Het
Zfhx4	A	G	3: 5,464,663 (GRCm39)	H1632R	possibly damaging	Het
Zp1	T	A	19: 10,897,851 (GRCm39)	E30V	probably benign	Het

Other mutations in Rasef

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Rasef	APN	4	73,689,662 (GRCm39)	nonsense	probably null
IGL01329:Rasef	APN	4	73,645,882 (GRCm39)	missense	probably damaging	1.00
IGL01517:Rasef	APN	4	73,688,059 (GRCm39)	missense	probably benign	0.03
IGL02676:Rasef	APN	4	73,677,966 (GRCm39)	missense	possibly damaging	0.69
IGL03137:Rasef	APN	4	73,652,720 (GRCm39)	nonsense	probably null
IGL03403:Rasef	APN	4	73,652,771 (GRCm39)	missense	probably damaging	1.00
BB001:Rasef	UTSW	4	73,659,166 (GRCm39)	critical splice donor site	probably null
BB011:Rasef	UTSW	4	73,659,166 (GRCm39)	critical splice donor site	probably null
P0033:Rasef	UTSW	4	73,668,089 (GRCm39)	missense	probably benign	0.26
R0035:Rasef	UTSW	4	73,681,091 (GRCm39)	splice site	probably benign
R0035:Rasef	UTSW	4	73,681,091 (GRCm39)	splice site	probably benign
R0317:Rasef	UTSW	4	73,666,799 (GRCm39)	missense	probably damaging	1.00
R0686:Rasef	UTSW	4	73,652,771 (GRCm39)	missense	probably damaging	1.00
R0987:Rasef	UTSW	4	73,652,721 (GRCm39)	nonsense	probably null
R1115:Rasef	UTSW	4	73,666,841 (GRCm39)	missense	possibly damaging	0.85
R1511:Rasef	UTSW	4	73,653,985 (GRCm39)	missense	probably damaging	1.00
R1585:Rasef	UTSW	4	73,658,574 (GRCm39)	missense	probably damaging	1.00
R1646:Rasef	UTSW	4	73,652,786 (GRCm39)	missense	probably damaging	1.00
R1705:Rasef	UTSW	4	73,662,301 (GRCm39)	nonsense	probably null
R1918:Rasef	UTSW	4	73,662,351 (GRCm39)	missense	possibly damaging	0.94
R1919:Rasef	UTSW	4	73,662,351 (GRCm39)	missense	possibly damaging	0.94
R3819:Rasef	UTSW	4	73,677,942 (GRCm39)	missense	probably damaging	1.00
R3891:Rasef	UTSW	4	73,698,634 (GRCm39)	missense	probably benign	0.03
R3892:Rasef	UTSW	4	73,698,634 (GRCm39)	missense	probably benign	0.03
R4344:Rasef	UTSW	4	73,663,326 (GRCm39)	missense	probably damaging	1.00
R4491:Rasef	UTSW	4	73,652,740 (GRCm39)	missense	probably damaging	1.00
R4492:Rasef	UTSW	4	73,652,740 (GRCm39)	missense	probably damaging	1.00
R4594:Rasef	UTSW	4	73,698,626 (GRCm39)	missense	possibly damaging	0.47
R4915:Rasef	UTSW	4	73,649,696 (GRCm39)	missense	probably damaging	1.00
R5276:Rasef	UTSW	4	73,654,004 (GRCm39)	missense	probably null	1.00
R5359:Rasef	UTSW	4	73,689,565 (GRCm39)	missense	probably damaging	1.00
R5682:Rasef	UTSW	4	73,659,208 (GRCm39)	nonsense	probably null
R5693:Rasef	UTSW	4	73,688,076 (GRCm39)	missense	probably damaging	0.99
R6414:Rasef	UTSW	4	73,658,818 (GRCm39)	missense	probably benign	0.13
R6543:Rasef	UTSW	4	73,698,756 (GRCm39)	intron	probably benign
R6593:Rasef	UTSW	4	73,663,327 (GRCm39)	missense	probably damaging	1.00
R7078:Rasef	UTSW	4	73,698,626 (GRCm39)	missense	probably benign	0.01
R7083:Rasef	UTSW	4	73,709,221 (GRCm39)	missense	probably benign	0.26
R7106:Rasef	UTSW	4	73,645,864 (GRCm39)	missense	probably damaging	1.00
R7127:Rasef	UTSW	4	73,662,369 (GRCm39)	missense	probably damaging	1.00
R7329:Rasef	UTSW	4	73,662,374 (GRCm39)	missense	probably damaging	1.00
R7767:Rasef	UTSW	4	73,652,771 (GRCm39)	missense	probably damaging	1.00
R7891:Rasef	UTSW	4	73,709,201 (GRCm39)	missense	probably benign
R7891:Rasef	UTSW	4	73,677,935 (GRCm39)	missense	probably benign	0.00
R7924:Rasef	UTSW	4	73,659,166 (GRCm39)	critical splice donor site	probably null
R7997:Rasef	UTSW	4	73,658,799 (GRCm39)	missense	possibly damaging	0.78
R8554:Rasef	UTSW	4	73,645,844 (GRCm39)	missense	probably benign	0.03
R8832:Rasef	UTSW	4	73,698,558 (GRCm39)	intron	probably benign
R8850:Rasef	UTSW	4	73,645,840 (GRCm39)	missense	probably damaging	1.00
R8985:Rasef	UTSW	4	73,708,960 (GRCm39)	missense	possibly damaging	0.48
R9093:Rasef	UTSW	4	73,698,583 (GRCm39)	missense	probably benign	0.00
R9179:Rasef	UTSW	4	73,662,356 (GRCm39)	missense	probably damaging	0.97
R9199:Rasef	UTSW	4	73,658,625 (GRCm39)	missense	possibly damaging	0.88
R9300:Rasef	UTSW	4	73,659,393 (GRCm39)	missense	probably benign
R9310:Rasef	UTSW	4	73,653,956 (GRCm39)	critical splice donor site	probably null
R9415:Rasef	UTSW	4	73,645,882 (GRCm39)	missense	probably benign	0.00
R9482:Rasef	UTSW	4	73,708,933 (GRCm39)	missense	probably benign	0.00
R9719:Rasef	UTSW	4	73,688,102 (GRCm39)	missense	possibly damaging	0.62

Posted On

2015-04-16