Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Rabep1'

41325

Institutional Source

Beutler Lab

Gene Symbol

Rabep1

Ensembl Gene

ENSMUSG00000020817

Gene Name

rabaptin, RAB GTPase binding effector protein 1

Synonyms

neurocrescin, RAB5 effector protein, rabaptin-5

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.564) question?

Stock #

R0458 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

70844778-70943105 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 70886998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076270] [ENSMUST00000081362] [ENSMUST00000100928] [ENSMUST00000100928] [ENSMUST00000108533] [ENSMUST00000177731] [ENSMUST00000178245] [ENSMUST00000179114]

AlphaFold

O35551

Predicted Effect

probably null
Transcript: ENSMUST00000076270

SMART Domains

Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	195	8.8e-47	PFAM
low complexity region	314	327	N/A	INTRINSIC
Pfam:Rabaptin	461	596	7.6e-39	PFAM
Pfam:Rab5-bind	612	807	5.7e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000081362

SMART Domains

Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	198	2.4e-45	PFAM
low complexity region	274	287	N/A	INTRINSIC
Pfam:Rabaptin	421	556	7.1e-39	PFAM
Pfam:Rab5-bind	572	767	5.2e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000100928

SMART Domains

Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	195	8.3e-47	PFAM
low complexity region	314	327	N/A	INTRINSIC
Pfam:Rabaptin	461	561	2.9e-27	PFAM
Pfam:Rab5-bind	577	772	5.3e-51	PFAM
low complexity region	803	817	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000100928

SMART Domains

Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	195	8.3e-47	PFAM
low complexity region	314	327	N/A	INTRINSIC
Pfam:Rabaptin	461	561	2.9e-27	PFAM
Pfam:Rab5-bind	577	772	5.3e-51	PFAM
low complexity region	803	817	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108533

SMART Domains

Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	9	495	2.8e-301	PFAM
Pfam:Rab5-bind	533	841	2e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142220

Predicted Effect

probably null
Transcript: ENSMUST00000177731

SMART Domains

Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	5	111	6.2e-47	PFAM
low complexity region	230	243	N/A	INTRINSIC
Pfam:Rabaptin	377	512	5.3e-39	PFAM
Pfam:Rab5-bind	528	723	1.4e-50	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000178245

SMART Domains

Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	46	152	8.2e-47	PFAM
low complexity region	271	284	N/A	INTRINSIC
Pfam:Rabaptin	418	553	7e-39	PFAM
Pfam:Rab5-bind	569	764	5.2e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000179114

SMART Domains

Protein: ENSMUSP00000136369
Gene: ENSMUSG00000020817

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	195	7.1e-48	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	T	C	16: 92,321,107	I98V	probably benign	Het
4933407L21Rik	A	G	1: 85,929,026	E8G	unknown	Het
9130008F23Rik	T	C	17: 40,880,236	T101A	probably benign	Het
Abcb8	C	T	5: 24,406,233	T455I	probably benign	Het
Abcb9	C	A	5: 124,082,146		probably null	Het
Akp3	T	G	1: 87,126,537	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,752,408	D109V	probably damaging	Het
Aurka	C	A	2: 172,370,446	E4*	probably null	Het
Cacna1g	T	A	11: 94,409,440	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,781,972		probably benign	Het
Cfap61	T	C	2: 146,008,917	V325A	probably benign	Het
Clasp2	T	A	9: 113,906,224		probably null	Het
Crim1	T	A	17: 78,313,226	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,174,043	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,161,878	V399A	possibly damaging	Het
Ear2	A	G	14: 44,103,248	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,903,290	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,308,867		probably benign	Het
Epn2	C	A	11: 61,546,455	R97L	possibly damaging	Het
Fzd6	G	A	15: 39,031,281	A281T	probably damaging	Het
Garem2	T	A	5: 30,114,182	I214N	probably damaging	Het
Glg1	A	G	8: 111,160,606		probably benign	Het
Golm1	T	C	13: 59,664,364	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,332,033	R12L	probably benign	Het
Gstm1	T	A	3: 108,017,363	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,644,134	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,476,381	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Icam1	A	G	9: 21,027,861		probably null	Het
Itga9	T	C	9: 118,681,028		probably null	Het
Kif15	T	C	9: 123,009,359	F1121L	probably benign	Het
Klhl30	T	A	1: 91,360,996		probably benign	Het
Ldlrad1	T	C	4: 107,216,190	C141R	probably damaging	Het
Lemd2	T	C	17: 27,190,653	D508G	probably damaging	Het
Lilra5	A	C	7: 4,238,219	T52P	probably benign	Het
Lrtm2	G	A	6: 119,317,268	P301S	probably damaging	Het
Mcoln2	A	G	3: 146,150,013		probably benign	Het
Mkrn2os	A	G	6: 115,586,670	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,133,370	V607A	probably benign	Het
Mmadhc	T	C	2: 50,281,161	Y213C	probably benign	Het
Mpo	C	A	11: 87,796,297	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,020,177	I310M	probably damaging	Het
Muc5b	C	A	7: 141,864,972	A3885D	probably benign	Het
Mvp	A	G	7: 126,998,491	W152R	probably damaging	Het
Nmur2	A	T	11: 56,040,568	F106I	possibly damaging	Het
Nr3c2	T	A	8: 76,909,538	F423I	probably damaging	Het
Olfr1030	A	G	2: 85,984,256	S139G	probably benign	Het
Olfr1500	G	T	19: 13,828,229	H56N	probably benign	Het
Olfr355	A	G	2: 36,927,337	V259A	probably damaging	Het
Olfr894	G	A	9: 38,219,048	C75Y	probably damaging	Het
Pappa	A	G	4: 65,155,882	I224M	probably damaging	Het
Prex1	A	C	2: 166,585,823	S800A	probably damaging	Het
Prkaca	T	C	8: 83,995,282		probably benign	Het
Ptpru	A	T	4: 131,799,675	V662E	possibly damaging	Het
Rbms2	C	T	10: 128,151,189	C50Y	probably damaging	Het
Rd3	C	T	1: 191,977,453	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,257	I247L	probably benign	Het
Sf3b3	A	G	8: 110,812,136		probably benign	Het
Slc35c1	A	T	2: 92,454,513	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,363,469		probably null	Het
Snx6	G	T	12: 54,768,136	Y17*	probably null	Het
Sox6	C	A	7: 115,489,794	R611L	probably damaging	Het
Spata13	G	A	14: 60,692,043	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,904,959	A483D	probably damaging	Het
Stat1	C	T	1: 52,149,052		probably benign	Het
Tab2	A	T	10: 7,919,555	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 156,030,407	N213S	probably damaging	Het
Trim39	T	C	17: 36,261,512	K300E	probably damaging	Het
Tubal3	T	C	13: 3,933,137	S306P	probably damaging	Het
Ufm1	A	G	3: 53,861,234	L33P	probably damaging	Het
Washc4	G	A	10: 83,546,799	V26I	possibly damaging	Het
Wfs1	A	G	5: 36,968,669	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,423,476	V109A	probably damaging	Het
Zfp667	T	C	7: 6,304,845	S171P	probably benign	Het
Zkscan5	T	A	5: 145,205,471	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,718,897	R1128W	probably damaging	Het

Other mutations in Rabep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Rabep1	APN	11	70925781	missense	probably benign	0.00
IGL02022:Rabep1	APN	11	70934559	missense	probably damaging	1.00
IGL02215:Rabep1	APN	11	70923197	nonsense	probably null
IGL02428:Rabep1	APN	11	70917480	missense	probably benign	0.00
IGL02566:Rabep1	APN	11	70917714	missense	probably damaging	1.00
IGL02868:Rabep1	APN	11	70874746	missense	probably benign	0.00
F5770:Rabep1	UTSW	11	70937516	splice site	probably benign
P0042:Rabep1	UTSW	11	70884975	splice site	probably benign
PIT4495001:Rabep1	UTSW	11	70917579	missense	probably damaging	1.00
R0328:Rabep1	UTSW	11	70919207	missense	probably damaging	1.00
R0477:Rabep1	UTSW	11	70920907	missense	probably damaging	1.00
R0727:Rabep1	UTSW	11	70900492	nonsense	probably null
R1732:Rabep1	UTSW	11	70904641	missense	probably damaging	1.00
R1837:Rabep1	UTSW	11	70904658	missense	probably damaging	1.00
R2203:Rabep1	UTSW	11	70934574	missense	probably damaging	1.00
R4003:Rabep1	UTSW	11	70917367	missense	probably benign	0.12
R4229:Rabep1	UTSW	11	70908434	missense	probably benign
R4573:Rabep1	UTSW	11	70917751	missense	probably damaging	1.00
R4748:Rabep1	UTSW	11	70908468	missense	probably benign	0.18
R5130:Rabep1	UTSW	11	70904731	missense	probably damaging	1.00
R5182:Rabep1	UTSW	11	70904628	nonsense	probably null
R5379:Rabep1	UTSW	11	70908421	missense	probably damaging	1.00
R5525:Rabep1	UTSW	11	70923146	missense	probably damaging	1.00
R5617:Rabep1	UTSW	11	70917529	missense	probably damaging	1.00
R6283:Rabep1	UTSW	11	70917679	missense	probably damaging	1.00
R6302:Rabep1	UTSW	11	70935121	missense	probably damaging	1.00
R6730:Rabep1	UTSW	11	70940386	missense	possibly damaging	0.88
R6988:Rabep1	UTSW	11	70934537	missense	probably damaging	0.96
R7235:Rabep1	UTSW	11	70940464	missense	probably benign	0.43
R7241:Rabep1	UTSW	11	70939989	missense	probably damaging	1.00
R7453:Rabep1	UTSW	11	70917660	missense	probably damaging	1.00
R7955:Rabep1	UTSW	11	70917441	missense	probably damaging	0.96
R8175:Rabep1	UTSW	11	70884929	missense	probably damaging	1.00
R8314:Rabep1	UTSW	11	70893660	missense	possibly damaging	0.93
R8461:Rabep1	UTSW	11	70884855	missense	possibly damaging	0.56
R8481:Rabep1	UTSW	11	70887127	missense	probably damaging	1.00
R8530:Rabep1	UTSW	11	70919242	missense	probably damaging	1.00
R8531:Rabep1	UTSW	11	70908506	missense	probably benign	0.01
R9010:Rabep1	UTSW	11	70919208	missense	probably damaging	1.00
R9696:Rabep1	UTSW	11	70923203	missense	probably benign
Z1186:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1187:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1188:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1189:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1190:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1191:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1192:Rabep1	UTSW	11	70940084	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGGGGAGCCACAGTGTAGAGTC -3'
(R):5'- GCACAGCATCCAACTTTCAGTTCG -3'

Sequencing Primer
(F):5'- TGAAAGCTTCACTTTGAACCTTC -3'
(R):5'- AACTTTCAGTTCGCGGCAATG -3'

Posted On

2013-05-23