Mutagenetix > Incidental Mutation

Incidental Mutation 'R0035:Rasef'

15371

Institutional Source

Beutler Lab

Gene Symbol

Rasef

Ensembl Gene

ENSMUSG00000043003

Gene Name

RAS and EF hand domain containing

Synonyms

RAB45

MMRRC Submission

038329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R0035 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73632816-73709231 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 73681091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152127 (fasta)

Gene Model

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

AlphaFold

Q5RI75

Predicted Effect

probably benign
Transcript: ENSMUST00000058292

SMART Domains

Protein: ENSMUSP00000062771
Gene: ENSMUSG00000043003

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 benign
Transcript: ENSMUST00000222414

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 75.6%
3x: 61.5%
10x: 31.6%
20x: 15.2%

Validation Efficiency

94% (51/54)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	T	C	7: 81,438,297 (GRCm39)	T20A	probably benign	Het
Acvr1c	A	G	2: 58,205,791 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,393,581 (GRCm39)	V1247A	probably benign	Het
Ap4b1	T	C	3: 103,727,980 (GRCm39)		probably benign	Het
Cfap53	A	G	18: 74,433,278 (GRCm39)	E121G	probably damaging	Het
Clec4a3	T	A	6: 122,944,508 (GRCm39)	Y185N	probably damaging	Het
Clic5	A	G	17: 44,586,200 (GRCm39)	T230A	probably damaging	Het
Clspn	G	T	4: 126,458,796 (GRCm39)		probably null	Het
Deup1	T	C	9: 15,511,117 (GRCm39)	R221G	possibly damaging	Het
Dnah8	A	T	17: 30,902,595 (GRCm39)		probably benign	Het
Dnase1l2	A	G	17: 24,660,049 (GRCm39)	V273A	probably damaging	Het
Gm5134	T	A	10: 75,829,698 (GRCm39)	F328Y	probably benign	Het
Il23r	A	G	6: 67,450,772 (GRCm39)		probably benign	Het
Il36b	A	T	2: 24,049,890 (GRCm39)	H167L	probably benign	Het
Ktn1	A	G	14: 47,967,836 (GRCm39)	N1167D	probably benign	Het
Map6	C	T	7: 98,966,815 (GRCm39)	T345I	probably damaging	Het
Mark2	A	T	19: 7,262,017 (GRCm39)		probably benign	Het
Nr1h5	T	A	3: 102,856,889 (GRCm39)	K208*	probably null	Het
Obp2b	T	C	2: 25,628,645 (GRCm39)	L133P	probably damaging	Het
Ptafr	C	A	4: 132,306,864 (GRCm39)	L85I	probably benign	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Rad50	A	G	11: 53,545,854 (GRCm39)		probably benign	Het
Tbc1d17	T	C	7: 44,490,832 (GRCm39)	N587D	probably benign	Het
Zc3h12c	A	T	9: 52,055,047 (GRCm39)	M235K	probably benign	Het
Zfp619	G	A	7: 39,186,706 (GRCm39)	G912D	probably damaging	Het
Zfp982	A	C	4: 147,597,149 (GRCm39)	K169Q	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
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
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

2012-12-17