Mutagenetix > Incidental Mutation

Incidental Mutation 'R4748:Rabep1'

357317

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

042030-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R4748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70844778-70943105 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70908468 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 306 (V306E)

Ref Sequence

ENSEMBL: ENSMUSP00000137267 (fasta)

Gene Model

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

AlphaFold

O35551

Predicted Effect

probably benign
Transcript: ENSMUST00000076270
AA Change: V349E

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: V349E

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 benign
Transcript: ENSMUST00000081362
AA Change: V309E

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: V309E

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 benign
Transcript: ENSMUST00000100928
AA Change: V349E

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: V349E

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: ENSMUST00000108533
AA Change: V349E

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: V349E

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: ENSMUST00000121605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142220

Predicted Effect

probably benign
Transcript: ENSMUST00000177731
AA Change: V265E

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: V265E

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 benign
Transcript: ENSMUST00000178245
AA Change: V306E

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: V306E

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,856,656 (GRCm38)	E54D	possibly damaging	Het
Abcb6	C	A	1: 75,177,358 (GRCm38)	G367W	probably damaging	Het
Asprv1	A	G	6: 86,628,423 (GRCm38)	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,701,507 (GRCm38)	V291A	probably damaging	Het
B4galnt4	T	C	7: 141,071,720 (GRCm38)	F980L	probably damaging	Het
Bpi	G	A	2: 158,272,021 (GRCm38)	V280I	possibly damaging	Het
Bptf	T	C	11: 107,095,880 (GRCm38)	D581G	probably damaging	Het
Cap2	T	A	13: 46,639,826 (GRCm38)	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 77,057,980 (GRCm38)	I480M	possibly damaging	Het
Ccn4	C	A	15: 66,906,640 (GRCm38)	Y103*	probably null	Het
Ccnh	T	A	13: 85,189,639 (GRCm38)	V35E	probably benign	Het
Cd6	G	T	19: 10,794,225 (GRCm38)	S433*	probably null	Het
Ceacam10	A	C	7: 24,781,052 (GRCm38)	I83L	probably benign	Het
Chek2	T	C	5: 110,855,839 (GRCm38)		probably null	Het
Chia1	A	T	3: 106,122,449 (GRCm38)	D73V	probably damaging	Het
Commd2	G	A	3: 57,646,794 (GRCm38)	T162I	probably benign	Het
Creb3l3	C	T	10: 81,086,047 (GRCm38)	A316T	probably benign	Het
Cul4a	A	G	8: 13,123,526 (GRCm38)	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,016,737 (GRCm38)		probably null	Het
D630045J12Rik	T	C	6: 38,196,841 (GRCm38)	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,550,236 (GRCm38)	K295N	probably damaging	Het
Dnah1	A	G	14: 31,319,945 (GRCm38)	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048 (GRCm38)	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,642,651 (GRCm38)	D275G	probably damaging	Het
Enam	C	A	5: 88,501,543 (GRCm38)	P304T	probably damaging	Het
Enpep	A	G	3: 129,332,163 (GRCm38)	Y107H	probably damaging	Het
Exd2	T	C	12: 80,480,576 (GRCm38)	L27P	probably damaging	Het
Fam135b	T	A	15: 71,464,055 (GRCm38)	D430V	probably benign	Het
Fam222b	C	T	11: 78,154,603 (GRCm38)	T202I	possibly damaging	Het
Fmod	T	A	1: 134,041,174 (GRCm38)	N317K	probably damaging	Het
Frem2	A	G	3: 53,541,093 (GRCm38)	F2301L	probably damaging	Het
Frem3	T	C	8: 80,611,459 (GRCm38)	F127S	probably damaging	Het
Gbp7	A	G	3: 142,538,087 (GRCm38)	S132G	probably benign	Het
Gm4787	A	G	12: 81,378,056 (GRCm38)	C443R	probably damaging	Het
Grik2	T	C	10: 49,535,341 (GRCm38)	M5V	possibly damaging	Het
Helb	T	C	10: 120,084,849 (GRCm38)	D1063G	probably benign	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Krt90	G	A	15: 101,555,333 (GRCm38)	L429F	probably damaging	Het
Lrr1	C	A	12: 69,174,462 (GRCm38)	T126K	probably benign	Het
Mgat4e	C	A	1: 134,542,028 (GRCm38)	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,840,781 (GRCm38)	S343R	possibly damaging	Het
Mms19	T	A	19: 41,944,558 (GRCm38)	S1031C	probably damaging	Het
Mtrf1	C	T	14: 79,411,650 (GRCm38)	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,473,056 (GRCm38)	L408Q	probably damaging	Het
Oit3	A	T	10: 59,424,082 (GRCm38)	C500S	probably damaging	Het
Or11g1	T	G	14: 50,413,876 (GRCm38)	L111V	possibly damaging	Het
Or13c3	A	G	4: 52,856,076 (GRCm38)	S146P	possibly damaging	Het
Or4a39	C	T	2: 89,406,255 (GRCm38)	V275I	probably benign	Het
Or5d36	T	A	2: 88,070,612 (GRCm38)	I257L	probably benign	Het
Otud7a	T	C	7: 63,735,915 (GRCm38)	S376P	possibly damaging	Het
Pabpc2	A	T	18: 39,774,269 (GRCm38)	K196*	probably null	Het
Paqr8	T	A	1: 20,935,413 (GRCm38)	C264S	probably benign	Het
Pgm2	T	A	4: 99,981,979 (GRCm38)	F459Y	probably benign	Het
Phip	C	A	9: 82,908,869 (GRCm38)	V675L	probably benign	Het
Pnma1	T	G	12: 84,147,723 (GRCm38)	T69P	probably benign	Het
Ppp1r14bl	T	C	1: 23,101,870 (GRCm38)	E121G	probably damaging	Het
Ptpn12	A	T	5: 21,005,385 (GRCm38)	C242*	probably null	Het
Ros1	C	T	10: 52,115,997 (GRCm38)	D1377N	probably benign	Het
Ryr3	T	C	2: 112,964,405 (GRCm38)	T121A	possibly damaging	Het
Scaf11	G	A	15: 96,420,421 (GRCm38)	Q421*	probably null	Het
Shcbp1	G	A	8: 4,744,512 (GRCm38)	T427M	probably damaging	Het
Shprh	G	A	10: 11,170,476 (GRCm38)	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,925,876 (GRCm38)	C163Y	probably benign	Het
Slc27a1	A	G	8: 71,580,675 (GRCm38)	D287G	probably damaging	Het
Slc27a1	C	T	8: 71,580,809 (GRCm38)	T310M	possibly damaging	Het
Slc29a3	A	G	10: 60,716,326 (GRCm38)	V313A	probably benign	Het
Slc35f2	A	T	9: 53,771,785 (GRCm38)	M1L	probably benign	Het
Sltm	G	C	9: 70,581,365 (GRCm38)	R599T	probably damaging	Het
Spic	T	A	10: 88,675,890 (GRCm38)	Q168L	probably damaging	Het
Spink6	G	A	18: 44,082,361 (GRCm38)		probably null	Het
Stac2	T	C	11: 98,041,372 (GRCm38)	E235G	possibly damaging	Het
Szt2	G	A	4: 118,389,191 (GRCm38)	Q957*	probably null	Het
Them7	A	T	2: 105,378,646 (GRCm38)	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,271,716 (GRCm38)	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,236,890 (GRCm38)	E178G	probably benign	Het
Tomm40l	G	A	1: 171,219,562 (GRCm38)	R296*	probably null	Het
Trim80	C	A	11: 115,448,138 (GRCm38)	T598N	possibly damaging	Het
Trim9	T	C	12: 70,248,273 (GRCm38)	N688D	probably damaging	Het
Vil1	C	T	1: 74,421,266 (GRCm38)	A194V	probably damaging	Het
Vmn2r61	A	T	7: 42,267,141 (GRCm38)	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120 (GRCm38)	M331I	probably benign	Het
Vps33b	G	T	7: 80,290,048 (GRCm38)	A516S	probably damaging	Het
Zc3h6	G	A	2: 129,002,240 (GRCm38)	G235R	probably damaging	Het
Zfp612	T	A	8: 110,088,672 (GRCm38)	D170E	probably benign	Het
Zfp746	A	G	6: 48,064,556 (GRCm38)	I412T	probably benign	Het

Other mutations in Rabep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Rabep1	APN	11	70,925,781 (GRCm38)	missense	probably benign	0.00
IGL02022:Rabep1	APN	11	70,934,559 (GRCm38)	missense	probably damaging	1.00
IGL02215:Rabep1	APN	11	70,923,197 (GRCm38)	nonsense	probably null
IGL02428:Rabep1	APN	11	70,917,480 (GRCm38)	missense	probably benign	0.00
IGL02566:Rabep1	APN	11	70,917,714 (GRCm38)	missense	probably damaging	1.00
IGL02868:Rabep1	APN	11	70,874,746 (GRCm38)	missense	probably benign	0.00
F5770:Rabep1	UTSW	11	70,937,516 (GRCm38)	splice site	probably benign
P0042:Rabep1	UTSW	11	70,884,975 (GRCm38)	splice site	probably benign
PIT4495001:Rabep1	UTSW	11	70,917,579 (GRCm38)	missense	probably damaging	1.00
R0328:Rabep1	UTSW	11	70,919,207 (GRCm38)	missense	probably damaging	1.00
R0458:Rabep1	UTSW	11	70,886,998 (GRCm38)	splice site	probably null
R0477:Rabep1	UTSW	11	70,920,907 (GRCm38)	missense	probably damaging	1.00
R0727:Rabep1	UTSW	11	70,900,492 (GRCm38)	nonsense	probably null
R1732:Rabep1	UTSW	11	70,904,641 (GRCm38)	missense	probably damaging	1.00
R1837:Rabep1	UTSW	11	70,904,658 (GRCm38)	missense	probably damaging	1.00
R2203:Rabep1	UTSW	11	70,934,574 (GRCm38)	missense	probably damaging	1.00
R4003:Rabep1	UTSW	11	70,917,367 (GRCm38)	missense	probably benign	0.12
R4229:Rabep1	UTSW	11	70,908,434 (GRCm38)	missense	probably benign
R4573:Rabep1	UTSW	11	70,917,751 (GRCm38)	missense	probably damaging	1.00
R5130:Rabep1	UTSW	11	70,904,731 (GRCm38)	missense	probably damaging	1.00
R5182:Rabep1	UTSW	11	70,904,628 (GRCm38)	nonsense	probably null
R5379:Rabep1	UTSW	11	70,908,421 (GRCm38)	missense	probably damaging	1.00
R5525:Rabep1	UTSW	11	70,923,146 (GRCm38)	missense	probably damaging	1.00
R5617:Rabep1	UTSW	11	70,917,529 (GRCm38)	missense	probably damaging	1.00
R6283:Rabep1	UTSW	11	70,917,679 (GRCm38)	missense	probably damaging	1.00
R6302:Rabep1	UTSW	11	70,935,121 (GRCm38)	missense	probably damaging	1.00
R6730:Rabep1	UTSW	11	70,940,386 (GRCm38)	missense	possibly damaging	0.88
R6988:Rabep1	UTSW	11	70,934,537 (GRCm38)	missense	probably damaging	0.96
R7235:Rabep1	UTSW	11	70,940,464 (GRCm38)	missense	probably benign	0.43
R7241:Rabep1	UTSW	11	70,939,989 (GRCm38)	missense	probably damaging	1.00
R7453:Rabep1	UTSW	11	70,917,660 (GRCm38)	missense	probably damaging	1.00
R7955:Rabep1	UTSW	11	70,917,441 (GRCm38)	missense	probably damaging	0.96
R8175:Rabep1	UTSW	11	70,884,929 (GRCm38)	missense	probably damaging	1.00
R8314:Rabep1	UTSW	11	70,893,660 (GRCm38)	missense	possibly damaging	0.93
R8461:Rabep1	UTSW	11	70,884,855 (GRCm38)	missense	possibly damaging	0.56
R8481:Rabep1	UTSW	11	70,887,127 (GRCm38)	missense	probably damaging	1.00
R8530:Rabep1	UTSW	11	70,919,242 (GRCm38)	missense	probably damaging	1.00
R8531:Rabep1	UTSW	11	70,908,506 (GRCm38)	missense	probably benign	0.01
R9010:Rabep1	UTSW	11	70,919,208 (GRCm38)	missense	probably damaging	1.00
R9696:Rabep1	UTSW	11	70,923,203 (GRCm38)	missense	probably benign
Z1186:Rabep1	UTSW	11	70,940,084 (GRCm38)	frame shift	probably null
Z1187:Rabep1	UTSW	11	70,940,084 (GRCm38)	frame shift	probably null
Z1188:Rabep1	UTSW	11	70,940,084 (GRCm38)	frame shift	probably null
Z1189:Rabep1	UTSW	11	70,940,084 (GRCm38)	frame shift	probably null
Z1190:Rabep1	UTSW	11	70,940,084 (GRCm38)	frame shift	probably null
Z1191:Rabep1	UTSW	11	70,940,084 (GRCm38)	frame shift	probably null
Z1192:Rabep1	UTSW	11	70,940,084 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGTCCCTTCTACTGAATACAGAAC -3'
(R):5'- GTAACTGACTGCTGTAGAAATACAC -3'

Sequencing Primer
(F):5'- CAGAACAAATTATCTCGTGTCCAG -3'
(R):5'- CTACCCAGCACATAGAGT -3'

Posted On

2015-11-11