Mutagenetix > Incidental Mutations

Incidental Mutation 'R6988:Rabep1'

543096

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70844778-70943105 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70934537 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 636 (K636E)

Ref Sequence

ENSEMBL: ENSMUSP00000136069 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000076270
AA Change: K720E

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: K720E

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

possibly damaging
Transcript: ENSMUST00000081362
AA Change: K680E

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: K680E

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

possibly damaging
Transcript: ENSMUST00000100928
AA Change: K685E

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: K685E

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

possibly damaging
Transcript: ENSMUST00000108533
AA Change: K720E

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: K720E

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: K636E

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: K636E

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

possibly damaging
Transcript: ENSMUST00000178245
AA Change: K677E

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: K677E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,454,579	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,411,756	V31I	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,899	D1759G	possibly damaging	Het
Adgre1	C	T	17: 57,408,445	S255F	probably benign	Het
Aff4	T	G	11: 53,398,237	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,233,758		probably benign	Het
Ankrd31	T	A	13: 96,878,249	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,518,125	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,916,923	V332I	probably benign	Het
AY358078	A	G	14: 51,826,187	E430G	probably damaging	Het
B4gat1	T	A	19: 5,040,434	I395N	probably benign	Het
Bub1b	T	A	2: 118,636,830	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,355,709	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885	I87N	probably damaging	Het
Ces2g	G	C	8: 104,963,908	G107A	probably benign	Het
Chpt1	A	G	10: 88,488,406	V180A	probably damaging	Het
Col2a1	T	C	15: 98,004,454	T14A	unknown	Het
Dnah7a	T	C	1: 53,582,625	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,666,213	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,643,275	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,714,210	E3993G	probably damaging	Het
Erv3	C	T	2: 131,855,966	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,609,091	F647I	probably damaging	Het
Fbrs	G	A	7: 127,479,508		probably benign	Het
Fgfr1op2	T	C	6: 146,589,965	F109L	probably damaging	Het
Fv1	T	C	4: 147,869,271	F98S	possibly damaging	Het
Gm436	A	G	4: 144,686,325	F15S	probably benign	Het
H2-M10.1	T	C	17: 36,325,592	K107E	probably benign	Het
Hspg2	A	T	4: 137,528,890	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,802,763	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,396,585	V102I	probably benign	Het
Mnt	C	A	11: 74,842,809		probably benign	Het
Mrpl15	T	C	1: 4,782,660	T112A	probably benign	Het
Ncdn	T	C	4: 126,747,189	D506G	probably benign	Het
Ogdh	C	T	11: 6,313,806	R81*	probably null	Het
Olfr791	T	A	10: 129,526,673	S149T	probably benign	Het
Olfr815	G	C	10: 129,902,409	F100L	probably damaging	Het
Pole	G	T	5: 110,329,583	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,274,007		probably benign	Het
Rasgrf2	T	A	13: 91,885,635	Y1151F	probably benign	Het
Rrad	A	G	8: 104,630,636	V93A	probably damaging	Het
Sesn3	A	T	9: 14,310,257	R118*	probably null	Het
Slc27a3	T	C	3: 90,386,290	N596S	probably benign	Het
Snx19	C	A	9: 30,428,935	D456E	probably damaging	Het
Supt20	T	C	3: 54,698,597	S35P	probably damaging	Het
Syde2	G	T	3: 146,019,809	R885L	probably benign	Het
Synm	G	A	7: 67,733,658	L1419F	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Tekt2	A	G	4: 126,323,443	F221L	probably benign	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Tmem39b	A	G	4: 129,693,148	I90T	possibly damaging	Het
Trib2	A	G	12: 15,815,338	S79P	probably damaging	Het
Usp32	T	C	11: 85,010,143	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,984,847	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,511	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716	E1357G	probably benign	Het
Zhx3	A	G	2: 160,779,868	M793T	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCCACAAATCCAGTAACCTTGTG -3'
(R):5'- GGCTTTCACAGTGACTGCAC -3'

Sequencing Primer
(F):5'- AACCTTGTGTTTACGGAATCCAGG -3'
(R):5'- ACCGAGGACAGCTGTTCTTTTATAC -3'

Posted On

2018-11-28