Mutagenetix > Incidental Mutation

Incidental Mutation 'P0033:Rasef'

7786

Institutional Source

Beutler Lab

Gene Symbol

Rasef

Ensembl Gene

ENSMUSG00000043003

Gene Name

RAS and EF hand domain containing

Synonyms

RAB45

MMRRC Submission

038284-MU

Accession Numbers

Essential gene?

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

Stock #

P0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73632816-73709231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73668089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 134 (N134S)

Ref Sequence

ENSEMBL: ENSMUSP00000099901 (fasta)

Gene Model

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

AlphaFold

Q5RI75

Predicted Effect

probably benign
Transcript: ENSMUST00000058292
AA Change: N206S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062771
Gene: ENSMUSG00000043003
AA Change: N206S

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
AA Change: N134S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099901
Gene: ENSMUSG00000043003
AA Change: N134S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222414
AA Change: N287S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0646

Coding Region Coverage

1x: 81.1%
3x: 72.9%
10x: 47.1%
20x: 23.7%

Validation Efficiency

86% (108/125)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Depdc1a	T	C	3: 159,221,778 (GRCm39)	S241P	probably damaging	Het
Dusp19	T	A	2: 80,447,729 (GRCm39)	M1K	probably null	Het
Egfem1	G	C	3: 29,744,340 (GRCm39)	Q526H	probably damaging	Het
Gm10856	C	A	15: 79,730,023 (GRCm39)		noncoding transcript	Het
Gm5901	A	G	7: 105,026,712 (GRCm39)	Y160C	probably damaging	Het
Hmg20a	A	G	9: 56,397,108 (GRCm39)	S303G	probably benign	Het
Lmbrd1	A	G	1: 24,724,646 (GRCm39)	T77A	possibly damaging	Het
Map3k5	C	T	10: 20,007,959 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,402,255 (GRCm39)	V696I	probably benign	Het
Orm3	A	T	4: 63,274,539 (GRCm39)	T35S	probably damaging	Het
Pdgfra	A	G	5: 75,353,222 (GRCm39)	E1004G	probably damaging	Het
Pigg	T	A	5: 108,489,944 (GRCm39)	F850I	probably damaging	Het
Ppip5k2	A	G	1: 97,645,253 (GRCm39)	V1067A	probably damaging	Het
Ptprd	T	A	4: 76,047,091 (GRCm39)	R392*	probably null	Het
Rad54b	T	A	4: 11,609,285 (GRCm39)		probably benign	Het
Rapgef4	T	C	2: 71,967,675 (GRCm39)		probably benign	Het
Sfswap	C	T	5: 129,616,819 (GRCm39)	P421L	possibly damaging	Het
Sorcs1	T	A	19: 50,141,345 (GRCm39)	I1129F	probably damaging	Het
Spats2l	G	A	1: 57,924,997 (GRCm39)	E132K	probably damaging	Het
Tet3	A	G	6: 83,345,494 (GRCm39)	S1648P	probably damaging	Het
Ttc16	T	A	2: 32,652,586 (GRCm39)	T691S	probably benign	Het
Usp38	C	T	8: 81,708,525 (GRCm39)	D1018N	probably benign	Het
Zcchc14	A	C	8: 122,336,898 (GRCm39)		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
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
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

2012-10-29