Mutagenetix > Incidental Mutation

Incidental Mutation 'R4573:Rabep1'

342282

Institutional Source

Beutler Lab

Gene Symbol

Rabep1

Ensembl Gene

ENSMUSG00000020817

Gene Name

rabaptin, RAB GTPase binding effector protein 1

Synonyms

rabaptin-5, RAB5 effector protein, neurocrescin

MMRRC Submission

041598-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.559) question?

Stock #

R4573 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70735604-70833931 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 70808577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 468 (S468T)

Ref Sequence

ENSEMBL: ENSMUSP00000137267 (fasta)

Gene Model

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

AlphaFold

O35551

Predicted Effect

probably damaging
Transcript: ENSMUST00000076270
AA Change: S511T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: S511T

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: S471T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: S471T

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: S511T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: S511T

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 damaging
Transcript: ENSMUST00000108533
AA Change: S511T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: S511T

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 damaging
Transcript: ENSMUST00000177731
AA Change: S427T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: S427T

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: S468T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: S468T

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: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,253,293 (GRCm39)	E212G	probably damaging	Het
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Akr1b10	T	C	6: 34,369,064 (GRCm39)	V153A	probably damaging	Het
Ap1m2	T	C	9: 21,217,054 (GRCm39)	Y94C	probably damaging	Het
Arhgef33	T	C	17: 80,672,711 (GRCm39)	S320P	probably damaging	Het
Arsg	T	C	11: 109,408,108 (GRCm39)	S87P	probably damaging	Het
Asic3	A	G	5: 24,622,190 (GRCm39)	Y458C	probably damaging	Het
Aspm	G	T	1: 139,407,245 (GRCm39)	W2044L	probably damaging	Het
Atad2b	T	C	12: 5,004,663 (GRCm39)		probably null	Het
Atp1a2	T	C	1: 172,106,204 (GRCm39)	I869M	possibly damaging	Het
Bpifb2	C	T	2: 153,731,412 (GRCm39)	L263F	probably damaging	Het
C1s2	T	C	6: 124,605,202 (GRCm39)		probably null	Het
Carf	G	T	1: 60,187,271 (GRCm39)	A590S	probably benign	Het
Cbarp	G	T	10: 79,967,245 (GRCm39)	D658E	probably damaging	Het
Cd1d2	A	G	3: 86,894,861 (GRCm39)	I78V	probably benign	Het
Cdc42bpb	A	T	12: 111,289,575 (GRCm39)	M418K	probably benign	Het
Cdhr3	A	T	12: 33,118,152 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,354,712 (GRCm39)	K932R	probably benign	Het
Ces1d	A	C	8: 93,908,162 (GRCm39)	N310K	probably benign	Het
Chka	A	G	19: 3,935,960 (GRCm39)	K240R	probably damaging	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cyp4f37	A	G	17: 32,848,061 (GRCm39)	E193G	probably benign	Het
Dhrs9	C	A	2: 69,227,985 (GRCm39)	H200N	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Dnah8	T	C	17: 30,919,380 (GRCm39)	S1118P	probably benign	Het
Dyrk1a	A	G	16: 94,492,882 (GRCm39)	Y705C	possibly damaging	Het
Elmod1	T	C	9: 53,833,256 (GRCm39)	N183S	probably damaging	Het
Fer1l6	G	A	15: 58,498,129 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,816,510 (GRCm39)	Y4081F	possibly damaging	Het
Gsr	A	G	8: 34,183,881 (GRCm39)	D381G	probably benign	Het
Gucy1a1	A	G	3: 82,016,229 (GRCm39)	L253S	possibly damaging	Het
Herc3	C	A	6: 58,871,098 (GRCm39)	T69K	possibly damaging	Het
Hoxb13	A	G	11: 96,085,777 (GRCm39)	Y170C	probably damaging	Het
Hsd3b5	T	C	3: 98,526,964 (GRCm39)	M161V	probably benign	Het
Lrp6	G	A	6: 134,447,693 (GRCm39)	R985*	probably null	Het
Marchf5	T	A	19: 37,197,793 (GRCm39)	I154K	probably damaging	Het
Mcemp1	A	G	8: 3,715,835 (GRCm39)		probably null	Het
Mrpl2	G	T	17: 46,959,967 (GRCm39)	C212F	possibly damaging	Het
Mterf1a	G	A	5: 3,941,119 (GRCm39)	R250W	possibly damaging	Het
Mthfd1	A	G	12: 76,340,912 (GRCm39)		probably null	Het
Mul1	T	C	4: 138,163,660 (GRCm39)	F19L	probably benign	Het
Mycbp2	G	T	14: 103,583,733 (GRCm39)	A74E	probably benign	Het
Myo5a	A	T	9: 75,108,579 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,132,889 (GRCm39)	S33T	probably damaging	Het
Niban1	T	C	1: 151,579,517 (GRCm39)	V412A	possibly damaging	Het
Ninj1	A	G	13: 49,348,463 (GRCm39)	N191S	probably damaging	Het
Nrap	T	C	19: 56,330,770 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or1j21	T	A	2: 36,683,491 (GRCm39)	M81K	probably damaging	Het
Or1n1b	T	C	2: 36,780,202 (GRCm39)	I219M	probably damaging	Het
Osbpl5	C	A	7: 143,248,053 (GRCm39)	V671L	probably benign	Het
Paics	T	C	5: 77,104,450 (GRCm39)	L25S	probably benign	Het
Pcmtd1	A	G	1: 7,190,591 (GRCm39)	E20G	probably damaging	Het
Pgbd5	G	A	8: 125,102,966 (GRCm39)	Q228*	probably null	Het
Pnpla7	T	C	2: 24,940,885 (GRCm39)	V1079A	probably damaging	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ppp1r14c	A	G	10: 3,413,416 (GRCm39)	I150V	possibly damaging	Het
Ppp1r2	A	G	16: 31,079,455 (GRCm39)	Y115H	possibly damaging	Het
Ptchd4	T	C	17: 42,813,668 (GRCm39)	V523A	probably benign	Het
Rgs6	T	A	12: 83,112,789 (GRCm39)	W200R	probably damaging	Het
Ryr3	C	T	2: 112,585,519 (GRCm39)		probably null	Het
Scamp2	A	T	9: 57,484,477 (GRCm39)	D20V	probably damaging	Het
Sec24d	G	A	3: 123,152,519 (GRCm39)	V844M	probably damaging	Het
Septin10	T	A	10: 59,028,151 (GRCm39)	N57Y	probably damaging	Het
Sis	T	C	3: 72,835,570 (GRCm39)	K931E	possibly damaging	Het
Slamf7	T	C	1: 171,463,934 (GRCm39)	T258A	probably benign	Het
Slc15a1	A	G	14: 121,724,441 (GRCm39)	S144P	probably damaging	Het
Slc6a7	A	T	18: 61,135,253 (GRCm39)	V425E	probably benign	Het
Syt7	C	T	19: 10,416,576 (GRCm39)	R253*	probably null	Het
Tm4sf1	A	T	3: 57,202,206 (GRCm39)	C2S	possibly damaging	Het
Trio	CCTTCTTCTTCT	CCTTCTTCT	15: 27,773,084 (GRCm39)		probably benign	Het
Trpm3	C	T	19: 22,879,506 (GRCm39)	H594Y	probably damaging	Het
Tshz1	A	T	18: 84,033,207 (GRCm39)	N400K	probably damaging	Het
Vat1	A	T	11: 101,351,441 (GRCm39)	M300K	probably benign	Het
Vmn1r70	C	A	7: 10,367,556 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,339 (GRCm39)	D410N	probably damaging	Het
Yap1	T	C	9: 7,934,682 (GRCm39)	D428G	probably damaging	Het
Zbed6	A	G	1: 133,587,127 (GRCm39)	I70T	probably benign	Het
Zfp157	A	G	5: 138,455,191 (GRCm39)	Y463C	probably damaging	Het

Other mutations in Rabep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Rabep1	APN	11	70,816,607 (GRCm39)	missense	probably benign	0.00
IGL02022:Rabep1	APN	11	70,825,385 (GRCm39)	missense	probably damaging	1.00
IGL02215:Rabep1	APN	11	70,814,023 (GRCm39)	nonsense	probably null
IGL02428:Rabep1	APN	11	70,808,306 (GRCm39)	missense	probably benign	0.00
IGL02566:Rabep1	APN	11	70,808,540 (GRCm39)	missense	probably damaging	1.00
IGL02868:Rabep1	APN	11	70,765,572 (GRCm39)	missense	probably benign	0.00
F5770:Rabep1	UTSW	11	70,828,342 (GRCm39)	splice site	probably benign
P0042:Rabep1	UTSW	11	70,775,801 (GRCm39)	splice site	probably benign
PIT4495001:Rabep1	UTSW	11	70,808,405 (GRCm39)	missense	probably damaging	1.00
R0328:Rabep1	UTSW	11	70,810,033 (GRCm39)	missense	probably damaging	1.00
R0458:Rabep1	UTSW	11	70,777,824 (GRCm39)	splice site	probably null
R0477:Rabep1	UTSW	11	70,811,733 (GRCm39)	missense	probably damaging	1.00
R0727:Rabep1	UTSW	11	70,791,318 (GRCm39)	nonsense	probably null
R1732:Rabep1	UTSW	11	70,795,467 (GRCm39)	missense	probably damaging	1.00
R1837:Rabep1	UTSW	11	70,795,484 (GRCm39)	missense	probably damaging	1.00
R2203:Rabep1	UTSW	11	70,825,400 (GRCm39)	missense	probably damaging	1.00
R4003:Rabep1	UTSW	11	70,808,193 (GRCm39)	missense	probably benign	0.12
R4229:Rabep1	UTSW	11	70,799,260 (GRCm39)	missense	probably benign
R4748:Rabep1	UTSW	11	70,799,294 (GRCm39)	missense	probably benign	0.18
R5130:Rabep1	UTSW	11	70,795,557 (GRCm39)	missense	probably damaging	1.00
R5182:Rabep1	UTSW	11	70,795,454 (GRCm39)	nonsense	probably null
R5379:Rabep1	UTSW	11	70,799,247 (GRCm39)	missense	probably damaging	1.00
R5525:Rabep1	UTSW	11	70,813,972 (GRCm39)	missense	probably damaging	1.00
R5617:Rabep1	UTSW	11	70,808,355 (GRCm39)	missense	probably damaging	1.00
R6283:Rabep1	UTSW	11	70,808,505 (GRCm39)	missense	probably damaging	1.00
R6302:Rabep1	UTSW	11	70,825,947 (GRCm39)	missense	probably damaging	1.00
R6730:Rabep1	UTSW	11	70,831,212 (GRCm39)	missense	possibly damaging	0.88
R6988:Rabep1	UTSW	11	70,825,363 (GRCm39)	missense	probably damaging	0.96
R7235:Rabep1	UTSW	11	70,831,290 (GRCm39)	missense	probably benign	0.43
R7241:Rabep1	UTSW	11	70,830,815 (GRCm39)	missense	probably damaging	1.00
R7453:Rabep1	UTSW	11	70,808,486 (GRCm39)	missense	probably damaging	1.00
R7955:Rabep1	UTSW	11	70,808,267 (GRCm39)	missense	probably damaging	0.96
R8175:Rabep1	UTSW	11	70,775,755 (GRCm39)	missense	probably damaging	1.00
R8314:Rabep1	UTSW	11	70,784,486 (GRCm39)	missense	possibly damaging	0.93
R8461:Rabep1	UTSW	11	70,775,681 (GRCm39)	missense	possibly damaging	0.56
R8481:Rabep1	UTSW	11	70,777,953 (GRCm39)	missense	probably damaging	1.00
R8530:Rabep1	UTSW	11	70,810,068 (GRCm39)	missense	probably damaging	1.00
R8531:Rabep1	UTSW	11	70,799,332 (GRCm39)	missense	probably benign	0.01
R9010:Rabep1	UTSW	11	70,810,034 (GRCm39)	missense	probably damaging	1.00
R9696:Rabep1	UTSW	11	70,814,029 (GRCm39)	missense	probably benign
Z1186:Rabep1	UTSW	11	70,830,910 (GRCm39)	frame shift	probably null
Z1187:Rabep1	UTSW	11	70,830,910 (GRCm39)	frame shift	probably null
Z1188:Rabep1	UTSW	11	70,830,910 (GRCm39)	frame shift	probably null
Z1189:Rabep1	UTSW	11	70,830,910 (GRCm39)	frame shift	probably null
Z1190:Rabep1	UTSW	11	70,830,910 (GRCm39)	frame shift	probably null
Z1191:Rabep1	UTSW	11	70,830,910 (GRCm39)	frame shift	probably null
Z1192:Rabep1	UTSW	11	70,830,910 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TACTGTGTCCCTTGGGTCAC -3'
(R):5'- TCAGTTACCTATTCCCTCCAGAGAG -3'

Sequencing Primer
(F):5'- TCACTGCAGATGCCAAGTG -3'
(R):5'- TTACCTATTCCCTCCAGAGAGAGAAG -3'

Posted On

2015-09-24