Mutagenetix > Incidental Mutation

Incidental Mutation 'R9010:Rabep1'

685581

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

068840-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R9010 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70735604-70833931 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70810034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 532 (R532H)

Ref Sequence

ENSEMBL: ENSMUSP00000104173 (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: R532H

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

SMART Domains

Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: R532H

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: R492H

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

SMART Domains

Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: R492H

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

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 damaging
Transcript: ENSMUST00000108533
AA Change: R532H

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

SMART Domains

Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: R532H

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: R448H

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

SMART Domains

Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: R448H

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: R489H

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

SMART Domains

Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: R489H

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: 99.5%
20x: 98.1%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,119,504 (GRCm39)	M87K	possibly damaging	Het
Angel1	T	C	12: 86,770,153 (GRCm39)	S36G	possibly damaging	Het
Apol6	A	G	15: 76,935,697 (GRCm39)	H322R	unknown	Het
Arfgef2	G	A	2: 166,701,284 (GRCm39)	R694Q	probably damaging	Het
Bank1	A	T	3: 135,761,559 (GRCm39)	N748K	probably benign	Het
Bptf	A	T	11: 106,964,576 (GRCm39)	D1539E	probably damaging	Het
Bst1	T	C	5: 43,982,695 (GRCm39)	I180T	possibly damaging	Het
Cabin1	C	A	10: 75,570,892 (GRCm39)	E795*	probably null	Het
Ccdc168	A	G	1: 44,100,633 (GRCm39)	V155A	possibly damaging	Het
Cckar	T	A	5: 53,857,163 (GRCm39)	T416S	probably damaging	Het
Ccng2	G	T	5: 93,416,616 (GRCm39)	E46*	probably null	Het
Ceacam9	T	C	7: 16,455,916 (GRCm39)	S8P	probably benign	Het
Cercam	G	A	2: 29,766,071 (GRCm39)	D317N	possibly damaging	Het
Cfap54	T	A	10: 92,734,921 (GRCm39)	M2377L	unknown	Het
Cgnl1	A	T	9: 71,558,631 (GRCm39)	L914H	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Clec2g	T	A	6: 128,925,688 (GRCm39)	F32L	unknown	Het
Cntnap5c	A	T	17: 58,671,159 (GRCm39)	M1116L	probably benign	Het
Col11a2	C	A	17: 34,283,760 (GRCm39)	F1516L	unknown	Het
Crb2	A	G	2: 37,680,698 (GRCm39)	E542G	probably benign	Het
Crisp1	A	T	17: 40,616,101 (GRCm39)		probably benign	Het
Crybg3	G	A	16: 59,374,702 (GRCm39)	T470M	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eif1ad	T	A	19: 5,418,726 (GRCm39)	V93D	possibly damaging	Het
Entpd3	T	C	9: 120,384,825 (GRCm39)	I134T	probably benign	Het
Garre1	A	T	7: 33,938,491 (GRCm39)	C1015S	probably benign	Het
Gm19410	A	G	8: 36,282,011 (GRCm39)	M1865V	probably benign	Het
Gpat2	A	G	2: 127,277,146 (GRCm39)	E728G	probably benign	Het
Heatr5b	C	A	17: 79,081,139 (GRCm39)	S1371I	probably damaging	Het
Ighv1-4	A	T	12: 114,450,949 (GRCm39)	M53K	possibly damaging	Het
Itch	A	T	2: 155,020,991 (GRCm39)	T169S	probably benign	Het
Kifc2	A	G	15: 76,550,885 (GRCm39)	N587S	possibly damaging	Het
Klk1b16	A	T	7: 43,790,177 (GRCm39)	D149V	probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lefty2	T	A	1: 180,722,172 (GRCm39)	I170N	probably damaging	Het
Lrrc14b	A	G	13: 74,509,151 (GRCm39)	F419L	possibly damaging	Het
Mkrn2	T	A	6: 115,591,583 (GRCm39)	V302E	possibly damaging	Het
Msh4	T	C	3: 153,595,819 (GRCm39)	K271R	probably benign	Het
Muc6	T	C	7: 141,226,351 (GRCm39)	T1559A	unknown	Het
Naa16	T	G	14: 79,607,482 (GRCm39)	R289S	probably benign	Het
Nab1	T	A	1: 52,529,610 (GRCm39)	I96F	possibly damaging	Het
Ntn4	T	C	10: 93,480,506 (GRCm39)	C77R		Het
Nusap1	A	G	2: 119,479,456 (GRCm39)	T424A	possibly damaging	Het
Or1p1	G	T	11: 74,180,305 (GRCm39)	V278F	probably damaging	Het
Or2w6	A	G	13: 21,842,681 (GRCm39)	Y271H	probably damaging	Het
Or4e2	T	A	14: 52,688,556 (GRCm39)	S229T	possibly damaging	Het
Otog	A	G	7: 45,949,894 (GRCm39)	D267G	probably benign	Het
P2ry2	A	C	7: 100,647,358 (GRCm39)	F316V	probably benign	Het
Padi2	A	G	4: 140,663,924 (GRCm39)	T426A	probably damaging	Het
Pakap	A	T	4: 57,883,192 (GRCm39)	D845V	probably damaging	Het
Plxna2	T	C	1: 194,471,217 (GRCm39)	F996S	possibly damaging	Het
Ppp4r3a	T	C	12: 101,024,591 (GRCm39)	M303V	possibly damaging	Het
Prelid2	A	T	18: 42,065,781 (GRCm39)	W85R	probably damaging	Het
Rabgap1l	G	A	1: 160,528,443 (GRCm39)	R388W	possibly damaging	Het
Rad51ap2	G	T	12: 11,508,675 (GRCm39)	V866L	probably benign	Het
Rassf3	C	A	10: 121,311,991 (GRCm39)	E9*	probably null	Het
Rbbp4	A	C	4: 129,216,180 (GRCm39)	L189R	probably benign	Het
Rims2	T	A	15: 39,315,786 (GRCm39)	C597*	probably null	Het
Rrp12	T	A	19: 41,871,929 (GRCm39)	I452F	probably benign	Het
Snx29	G	A	16: 11,449,391 (GRCm39)	A279T	probably benign	Het
Tdh	C	T	14: 63,737,704 (GRCm39)	S17N	probably benign	Het
Tgm5	T	C	2: 120,879,371 (GRCm39)	D555G	possibly damaging	Het
Thbs1	A	C	2: 117,953,045 (GRCm39)	D885A	probably damaging	Het
Tmprss9	C	A	10: 80,733,701 (GRCm39)	A921E	unknown	Het
Trrap	T	A	5: 144,783,226 (GRCm39)	F3340I	probably damaging	Het
Vmn1r72	A	T	7: 11,404,145 (GRCm39)	M101K	possibly damaging	Het
Vmn2r117	A	G	17: 23,679,445 (GRCm39)	L593P	probably benign	Het
Washc2	G	A	6: 116,198,823 (GRCm39)	G295E	probably damaging	Het
Zfp273	A	T	13: 67,974,177 (GRCm39)	H435L	probably damaging	Het
Zfp395	A	G	14: 65,623,948 (GRCm39)	E139G	possibly damaging	Het
Zfp512b	G	A	2: 181,230,011 (GRCm39)	A552V	possibly 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
R4573:Rabep1	UTSW	11	70,808,577 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCTTGGTGCTAAGTTGTGTCC -3'
(R):5'- AATCAGCTGCCACTGTTGCC -3'

Sequencing Primer
(F):5'- GCTAAGTTGTGTCCATTGTTTTTC -3'
(R):5'- CCGCTGTGTGTGCTAGATTATTCC -3'

Posted On

2021-10-11