Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00430:Rasef'

6649

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 #

IGL00430

Quality Score

Status

Chromosome

Chromosomal Location

73632816-73709231 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 73689662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 117 (Q117*)

Ref Sequence

ENSEMBL: ENSMUSP00000152127 (fasta)

Gene Model

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

AlphaFold

Q5RI75

Predicted Effect

probably null
Transcript: ENSMUST00000058292
AA Change: Q36*

SMART Domains

Protein: ENSMUSP00000062771
Gene: ENSMUSG00000043003
AA Change: Q36*

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 benign
Transcript: ENSMUST00000102837

SMART Domains

Protein: ENSMUSP00000099901
Gene: ENSMUSG00000043003

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

Predicted Effect

probably null
Transcript: ENSMUST00000222414
AA Change: Q117*

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,772,641 (GRCm39)	S17N	probably benign	Het
Atp2a1	C	T	7: 126,046,388 (GRCm39)	W72*	probably null	Het
Baz2b	C	A	2: 59,743,139 (GRCm39)	A1611S	probably benign	Het
Cep290	A	T	10: 100,344,586 (GRCm39)	I475L	probably benign	Het
Cpsf4l	C	T	11: 113,600,044 (GRCm39)		probably benign	Het
Crispld2	A	T	8: 120,760,299 (GRCm39)	R408S	probably damaging	Het
Cyp3a25	A	T	5: 145,930,170 (GRCm39)	M145K	probably damaging	Het
Dexi	A	T	16: 10,360,309 (GRCm39)	D82E	probably benign	Het
Epyc	A	T	10: 97,517,009 (GRCm39)	K282N	probably benign	Het
Ercc6l2	G	T	13: 64,006,133 (GRCm39)	V588F	probably damaging	Het
Galnt14	C	T	17: 73,801,227 (GRCm39)	V532I	probably damaging	Het
Grk1	C	A	8: 13,463,128 (GRCm39)	Y383*	probably null	Het
Gtpbp1	G	T	15: 79,603,337 (GRCm39)	G609W	possibly damaging	Het
Hadha	C	T	5: 30,325,145 (GRCm39)	V682M	possibly damaging	Het
Igdcc3	A	C	9: 65,089,301 (GRCm39)	D499A	probably damaging	Het
Kcna10	T	G	3: 107,102,044 (GRCm39)	V225G	probably damaging	Het
Kcnh4	T	C	11: 100,648,480 (GRCm39)	T75A	possibly damaging	Het
Lama4	A	G	10: 38,921,700 (GRCm39)	E407G	possibly damaging	Het
Mrpl13	T	A	15: 55,403,597 (GRCm39)	K105N	probably damaging	Het
Pcdhb2	A	T	18: 37,429,516 (GRCm39)		probably null	Het
Pck2	C	T	14: 55,781,401 (GRCm39)	A209V	probably benign	Het
Plce1	A	G	19: 38,713,461 (GRCm39)	E1243G	probably damaging	Het
Plekhh2	A	T	17: 84,829,203 (GRCm39)	M25L	probably benign	Het
Rbm14	A	G	19: 4,861,454 (GRCm39)	V28A	probably damaging	Het
Rcan2	A	G	17: 44,147,275 (GRCm39)	T38A	probably benign	Het
Rin1	A	G	19: 5,101,404 (GRCm39)	N96S	probably benign	Het
Rrp12	A	G	19: 41,865,773 (GRCm39)		probably null	Het
Slco1a6	A	T	6: 142,047,377 (GRCm39)	C404*	probably null	Het
St6galnac3	T	C	3: 153,215,040 (GRCm39)	N38S	probably benign	Het
Top2b	T	A	14: 16,422,692 (GRCm38)	S1376R	probably benign	Het
Trip11	T	C	12: 101,852,406 (GRCm39)	I553V	probably benign	Het
Trip12	T	G	1: 84,741,582 (GRCm39)	H559P	probably damaging	Het
Uggt2	A	T	14: 119,263,841 (GRCm39)	L1063*	probably null	Het
Zmym6	T	A	4: 126,995,742 (GRCm39)	C269*	probably null	Het

Other mutations in Rasef

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02465:Rasef	APN	4	73,652,725 (GRCm39)	missense	probably damaging	1.00
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

2012-04-20