Mutagenetix > Incidental Mutation

Incidental Mutation 'R9696:Rabep1'

729305

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.559) question?

Stock #

R9696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70735604-70833931 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70814029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 616 (S616G)

Ref Sequence

ENSEMBL: ENSMUSP00000104173 (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: S616G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: S616G

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: S576G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: S576G

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: S581G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: S581G

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: S616G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: S616G

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 benign
Transcript: ENSMUST00000177731
AA Change: S532G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: S532G

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: S573G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: S573G

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: 99.6%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,691,256 (GRCm39)	D105G	possibly damaging	Het
4930407I10Rik	A	G	15: 81,949,697 (GRCm39)	N1198S	probably benign	Het
Abca14	A	T	7: 119,888,734 (GRCm39)	I1227F	possibly damaging	Het
Abhd10	T	C	16: 45,552,042 (GRCm39)	D277G	probably damaging	Het
Adam20	A	G	8: 41,249,633 (GRCm39)	N581S	probably damaging	Het
Apbb1ip	A	T	2: 22,725,989 (GRCm39)	T254S	probably benign	Het
Arap3	T	C	18: 38,112,905 (GRCm39)	T1102A	probably damaging	Het
Asb16	A	T	11: 102,159,766 (GRCm39)	R40W	probably damaging	Het
Birc6	T	A	17: 74,947,292 (GRCm39)	S3019T	probably damaging	Het
Btbd18	T	A	2: 84,497,854 (GRCm39)	C497*	probably null	Het
Cacna1h	T	C	17: 25,602,215 (GRCm39)	M1542V	possibly damaging	Het
Ccdc8	T	G	7: 16,730,087 (GRCm39)	S525R	unknown	Het
Ch25h	G	A	19: 34,451,947 (GRCm39)	R194W	probably damaging	Het
Ciapin1	C	A	8: 95,555,065 (GRCm39)	L130F	probably damaging	Het
Cnfn	G	T	7: 25,067,515 (GRCm39)	T54N	probably damaging	Het
Cop1	A	T	1: 159,076,783 (GRCm39)	I195F	probably damaging	Het
Daam1	A	G	12: 71,991,147 (GRCm39)	R254G	unknown	Het
Dcaf13	T	C	15: 39,001,496 (GRCm39)	M268T	possibly damaging	Het
Disp3	C	A	4: 148,345,611 (GRCm39)	V410L	probably damaging	Het
Dus4l	A	T	12: 31,696,647 (GRCm39)	I110K	probably damaging	Het
Endov	C	T	11: 119,398,048 (GRCm39)	P271L	probably damaging	Het
Epha2	A	G	4: 141,047,834 (GRCm39)	I539V	probably benign	Het
Ercc4	A	T	16: 12,950,810 (GRCm39)	I635L	probably damaging	Het
Exosc10	A	G	4: 148,649,704 (GRCm39)	D378G	probably damaging	Het
Fmnl1	A	G	11: 103,086,297 (GRCm39)	D804G	unknown	Het
Gm11983	T	A	11: 6,787,020 (GRCm39)	I36F	unknown	Het
Gm11992	A	T	11: 9,006,438 (GRCm39)	I123L	probably benign	Het
Gm19965	T	C	1: 116,730,838 (GRCm39)		probably benign	Het
Gm19965	A	G	1: 116,749,210 (GRCm39)	D297G		Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gse1	T	C	8: 120,956,280 (GRCm39)	V257A	unknown	Het
Haus1	A	T	18: 77,847,202 (GRCm39)	S225T	probably benign	Het
Hgf	A	G	5: 16,777,534 (GRCm39)	Y177C	probably damaging	Het
Insig1	T	C	5: 28,279,546 (GRCm39)	W184R	probably damaging	Het
Krt5	A	T	15: 101,616,141 (GRCm39)	S491R	unknown	Het
Lcn5	A	G	2: 25,550,142 (GRCm39)	I110V	probably benign	Het
Lin9	A	T	1: 180,496,733 (GRCm39)	S341C	possibly damaging	Het
Magi2	C	T	5: 20,670,864 (GRCm39)	H403Y	probably benign	Het
Mapk1ip1l	C	T	14: 47,548,340 (GRCm39)	P163S	probably damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mdp1	A	G	14: 55,896,704 (GRCm39)	V119A	probably benign	Het
Me1	A	G	9: 86,469,047 (GRCm39)	I506T	probably damaging	Het
Med1	A	G	11: 98,061,772 (GRCm39)		probably null	Het
Med25	T	A	7: 44,529,524 (GRCm39)	Q656L	probably benign	Het
Memo1	A	C	17: 74,524,041 (GRCm39)	I213S	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mpi	T	C	9: 57,452,539 (GRCm39)	D331G	probably benign	Het
Muc4	T	C	16: 32,574,712 (GRCm39)	I1054T	probably benign	Het
Nat10	T	C	2: 103,556,040 (GRCm39)	E927G	possibly damaging	Het
Nlrp9a	T	C	7: 26,275,033 (GRCm39)	L930P	unknown	Het
Nt5c3b	A	T	11: 100,323,811 (GRCm39)	I167N	probably damaging	Het
Ogdh	T	C	11: 6,289,209 (GRCm39)	S308P	probably damaging	Het
Or2y1b	A	G	11: 49,208,390 (GRCm39)	I6V	probably benign	Het
Or4c108	T	G	2: 88,803,615 (GRCm39)	I207L	probably benign	Het
Or52e5	T	A	7: 104,719,283 (GRCm39)	V203D	probably damaging	Het
Or8b9	G	A	9: 37,766,671 (GRCm39)	E186K	probably benign	Het
Parl	A	G	16: 20,105,690 (GRCm39)	V244A	probably benign	Het
Parp14	G	T	16: 35,661,252 (GRCm39)	D1565E	probably damaging	Het
Parp14	T	C	16: 35,661,251 (GRCm39)	K1566E	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,606 (GRCm39)	I312K	possibly damaging	Het
Pcnp	A	T	16: 55,844,867 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Rab10	T	A	12: 3,306,947 (GRCm39)	M83L	probably benign	Het
Rnf213	G	A	11: 119,359,806 (GRCm39)	V4400M		Het
Samd9l	T	A	6: 3,375,078 (GRCm39)	I728F	possibly damaging	Het
Scaf4	T	A	16: 90,044,122 (GRCm39)	D620V	unknown	Het
Scnn1b	A	T	7: 121,498,462 (GRCm39)	M1L	probably damaging	Het
Sec23b	T	A	2: 144,428,343 (GRCm39)	M652K	probably benign	Het
Selenoi	T	C	5: 30,453,413 (GRCm39)	F44L	probably benign	Het
Slc36a3	A	T	11: 55,026,161 (GRCm39)	V219E	possibly damaging	Het
Sncaip	A	T	18: 53,038,915 (GRCm39)	Q543L	probably damaging	Het
Stmnd1	A	G	13: 46,443,224 (GRCm39)	I119V	probably damaging	Het
Strn3	T	A	12: 51,676,286 (GRCm39)	E414D	probably damaging	Het
Syne1	T	A	10: 5,297,847 (GRCm39)	H1150L	probably benign	Het
Tdrd7	A	G	4: 46,016,888 (GRCm39)	N676S	possibly damaging	Het
Tgs1	A	T	4: 3,575,071 (GRCm39)	I16F	possibly damaging	Het
Thnsl2	T	G	6: 71,108,930 (GRCm39)	T294P	possibly damaging	Het
Tmem156	A	G	5: 65,231,147 (GRCm39)	I241T	possibly damaging	Het
Unc13a	A	T	8: 72,082,197 (GRCm39)	M1689K	possibly damaging	Het
Uri1	T	C	7: 37,664,738 (GRCm39)	D318G	probably benign	Het
Vmn2r86	T	A	10: 130,285,702 (GRCm39)	Q491L	possibly damaging	Het
Vps13b	C	A	15: 35,675,033 (GRCm39)	Q1718K	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
R9010:Rabep1	UTSW	11	70,810,034 (GRCm39)	missense	probably damaging	1.00
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'- ACTGGAAAGTCTTGCCATATAGC -3'
(R):5'- AGCGTCTGGACAGTATTCACC -3'

Sequencing Primer
(F):5'- GCCATATAGCAAATGTACACATTGG -3'
(R):5'- TTCACCATCATAAATCCTCTGGAG -3'

Posted On

2022-10-06