Mutagenetix > Incidental Mutations

Incidental Mutation 'R7241:Rabep1'

563221

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R7241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70844778-70943105 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70939989 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 829 (T829N)

Ref Sequence

ENSEMBL: ENSMUSP00000104173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035283] [ENSMUST00000076270] [ENSMUST00000081362] [ENSMUST00000100928] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000108533] [ENSMUST00000177731] [ENSMUST00000178245]

Predicted Effect

probably benign
Transcript: ENSMUST00000035283

SMART Domains

Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667

Domain	Start	End	E-Value	Type
Pfam:Nup88	13	752	1.1e-306	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000076270
AA Change: T827N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: T827N

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 damaging
Transcript: ENSMUST00000081362
AA Change: T787N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: T787N

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 damaging
Transcript: ENSMUST00000100928
AA Change: T792N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: T792N

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 benign
Transcript: ENSMUST00000108530

SMART Domains

Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667

Domain	Start	End	E-Value	Type
Pfam:Nup88	11	742	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108531

SMART Domains

Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667

Domain	Start	End	E-Value	Type
Pfam:Nup88	11	747	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108533
AA Change: T829N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: T829N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177731
AA Change: T743N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: T743N

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 damaging
Transcript: ENSMUST00000178245
AA Change: T784N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: T784N

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 benign
Transcript: ENSMUST00000178253

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,287,042	E3378G	probably benign	Het
Abca14	A	G	7: 120,246,961	T612A	probably damaging	Het
Acacb	G	A	5: 114,245,100	A2115T	possibly damaging	Het
Adam32	T	C	8: 24,898,494	K398R	probably benign	Het
Adam9	T	A	8: 24,950,986	I824F	possibly damaging	Het
Ahnak	A	G	19: 9,009,031	I2560V	possibly damaging	Het
Ank3	G	A	10: 69,706,814	M1I	probably null	Het
Anks1b	T	G	10: 90,512,837	I789S	probably damaging	Het
Ap2b1	T	A	11: 83,351,105	N641K	probably benign	Het
Arhgap33	A	G	7: 30,528,721	L412P	probably damaging	Het
Atp13a3	T	A	16: 30,352,277	M317L	possibly damaging	Het
B4galt5	A	G	2: 167,306,697	L167P	probably damaging	Het
Bace2	T	C	16: 97,436,798	I483T	possibly damaging	Het
C2cd3	A	C	7: 100,407,050	K177T		Het
Ccr4	T	C	9: 114,492,956	T14A	probably benign	Het
Cep250	A	T	2: 155,991,552	H1799L	probably benign	Het
Cgnl1	T	C	9: 71,724,770	Q433R	probably benign	Het
Copb1	C	T	7: 114,237,356	V384M	probably damaging	Het
Cyp2c50	T	A	19: 40,090,568	N118K	probably benign	Het
Cyp4a32	A	G	4: 115,602,302	I78V	probably benign	Het
Cyth4	A	G	15: 78,607,045	K108R	probably benign	Het
Dnah1	T	C	14: 31,264,939	H3632R	probably benign	Het
Dnah3	T	C	7: 119,943,633	I540V	probably benign	Het
Dock4	A	G	12: 40,794,860	Y1174C	probably damaging	Het
Drd5	A	G	5: 38,320,536	T291A	probably damaging	Het
Fam102a	A	G	2: 32,558,064	R62G	probably benign	Het
Fbn1	T	C	2: 125,306,495	N2611S	possibly damaging	Het
Fhod3	A	G	18: 25,060,352	E640G	probably damaging	Het
Flvcr2	T	A	12: 85,805,239	D522E	probably benign	Het
Fuk	A	G	8: 110,895,897	I133T	probably benign	Het
Ganc	T	A	2: 120,441,529	I556K	probably damaging	Het
Gjc2	T	A	11: 59,177,134	E174V	unknown	Het
Gm4869	A	G	5: 140,462,188	T137A	probably damaging	Het
Gzmd	G	A	14: 56,131,342	R32C	probably damaging	Het
Hltf	T	A	3: 20,065,392	H200Q	probably benign	Het
Hrasls5	A	G	19: 7,614,581	T121A	probably benign	Het
Ift88	A	G	14: 57,479,997	I559M	probably damaging	Het
Ighv1-62-1	C	A	12: 115,386,702	C115F	probably damaging	Het
Impdh2	A	G	9: 108,563,437	N279S	possibly damaging	Het
Itpr1	T	C	6: 108,517,620		probably null	Het
Kansl1l	T	C	1: 66,801,628	N171S	possibly damaging	Het
Kif14	T	A	1: 136,468,753	C266S	probably benign	Het
Lrriq1	A	C	10: 103,215,973	V306G	probably damaging	Het
Mast4	G	A	13: 103,334,000	R65W	possibly damaging	Het
Mex3d	T	C	10: 80,387,257	D55G		Het
Mrps27	A	T	13: 99,411,280	K233*	probably null	Het
Myo1f	A	G	17: 33,579,928	N189S	probably damaging	Het
Nbn	A	T	4: 15,991,190	K729N	probably benign	Het
Olfr1082	C	A	2: 86,594,154	V225F	possibly damaging	Het
Olfr395	T	C	11: 73,907,232	S87G	probably benign	Het
Park2	C	A	17: 11,854,861	N355K	possibly damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Polr1e	A	C	4: 45,029,340	H315P	probably damaging	Het
Pou6f2	A	G	13: 18,125,289	V595A		Het
Prdm15	T	C	16: 97,795,741	D960G	possibly damaging	Het
Prkcz	A	T	4: 155,269,059	M460K	probably benign	Het
Prkd2	G	T	7: 16,857,805	R587L	probably benign	Het
Rptn	A	G	3: 93,395,954	E198G	probably benign	Het
Ryr2	A	T	13: 11,665,913	I3182N	possibly damaging	Het
Sectm1a	T	A	11: 121,069,882	I36F	possibly damaging	Het
Sez6l	T	C	5: 112,473,480	S243G	probably benign	Het
Taf2	T	A	15: 55,062,141	H235L	probably benign	Het
Tbc1d7	T	C	13: 43,153,017	Q161R	probably benign	Het
Tfcp2	T	C	15: 100,518,587	T271A	possibly damaging	Het
Thrsp	G	T	7: 97,417,088	T139K	probably damaging	Het
Timm10	T	A	2: 84,829,989	*91R	probably null	Het
Tlr11	T	A	14: 50,362,141	I528N	possibly damaging	Het
Tnnt2	T	A	1: 135,851,706	L278Q	probably damaging	Het
Toe1	A	T	4: 116,807,518	M1K	probably null	Het
Trpv5	G	A	6: 41,675,308	R148*	probably null	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Ttn	A	G	2: 76,953,206	V860A	unknown	Het
Txnip	T	C	3: 96,559,675	Y222H	probably damaging	Het
Ubr4	G	A	4: 139,443,414	S1600N	probably damaging	Het
Uhrf1	T	C	17: 56,315,193	Y364H	probably damaging	Het
Unc5a	A	T	13: 54,991,020	T71S	probably damaging	Het
Vmn1r123	A	T	7: 21,162,612	Y143F	possibly damaging	Het
Vmn1r180	T	A	7: 23,952,466	I18N	probably damaging	Het
Washc2	A	G	6: 116,208,207	M1V	probably null	Het
Zfp174	C	A	16: 3,848,247	H125Q	probably benign	Het
Zfpl1	T	C	19: 6,081,913	H227R	possibly 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
R0458:Rabep1	UTSW	11	70886998	splice site	probably null
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
R7453:Rabep1	UTSW	11	70917660	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCAGAGCAGTGTAGTGGC -3'
(R):5'- ACAGACTGGTATCCCTCAGC -3'

Sequencing Primer
(F):5'- GTAGTGGCTCTTGAGAATCATCACTC -3'
(R):5'- CACTCAACCTGATGATACGTTGAAGG -3'

Posted On

2019-06-26