Mutagenetix > Incidental Mutation

Incidental Mutation 'R8375:Rab5c'

646639

Institutional Source

Beutler Lab

Gene Symbol

Rab5c

Ensembl Gene

ENSMUSG00000019173

Gene Name

RAB5C, member RAS oncogene family

Synonyms

MMRRC Submission

067743-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8375 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100605835-100629041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100607609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 188 (N188K)

Ref Sequence

ENSEMBL: ENSMUSP00000019317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017976] [ENSMUST00000019317] [ENSMUST00000103118] [ENSMUST00000107364] [ENSMUST00000155500] [ENSMUST00000155843] [ENSMUST00000169833]

AlphaFold

P35278

Predicted Effect

probably benign
Transcript: ENSMUST00000006973

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918

Domain	Start	End	E-Value	Type
low complexity region	21	72	N/A	INTRINSIC
Pfam:PCAF_N	81	332	1.2e-155	PFAM
low complexity region	398	417	N/A	INTRINSIC
Pfam:Acetyltransf_7	538	621	5e-13	PFAM
Pfam:Acetyltransf_1	545	620	3.2e-11	PFAM
low complexity region	659	675	N/A	INTRINSIC
BROMO	718	826	6.87e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000017976

SMART Domains

Protein: ENSMUSP00000017976
Gene: ENSMUSG00000017832

Domain	Start	End	E-Value	Type
Pfam:HSP20	52	149	4.7e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000019317
AA Change: N188K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019317
Gene: ENSMUSG00000019173
AA Change: N188K

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
RAB	22	203	6.29e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103118

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918

Domain	Start	End	E-Value	Type
low complexity region	21	72	N/A	INTRINSIC
Pfam:PCAF_N	81	331	4.4e-120	PFAM
low complexity region	398	417	N/A	INTRINSIC
Pfam:Acetyltransf_7	539	622	1.2e-11	PFAM
Pfam:Acetyltransf_1	547	621	3.1e-11	PFAM
low complexity region	660	676	N/A	INTRINSIC
BROMO	719	827	6.87e-38	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107364
AA Change: N170K

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

SMART Domains

Protein: ENSMUSP00000102987
Gene: ENSMUSG00000019173
AA Change: N170K

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
RAB	22	185	3.37e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155500

Predicted Effect

probably benign
Transcript: ENSMUST00000155843

SMART Domains

Protein: ENSMUSP00000123581
Gene: ENSMUSG00000019173

Domain	Start	End	E-Value	Type
Pfam:Arf	15	83	1.1e-5	PFAM
Pfam:Miro	23	83	2.8e-10	PFAM
Pfam:Ras	23	83	7.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169833

SMART Domains

Protein: ENSMUSP00000130551
Gene: ENSMUSG00000017832

Domain	Start	End	E-Value	Type
Pfam:HSP20	83	178	1.2e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,265,416 (GRCm39)	F3030L	probably benign	Het
Abca13	A	T	11: 9,347,841 (GRCm39)	I3565F	probably damaging	Het
Ak7	A	T	12: 105,708,600 (GRCm39)	I352F	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Anapc7	C	T	5: 122,566,342 (GRCm39)	P84S	probably benign	Het
Apol7a	A	T	15: 77,273,547 (GRCm39)	I305N	probably damaging	Het
Asf1b	C	T	8: 84,694,559 (GRCm39)	R108C	probably damaging	Het
Bicd1	A	T	6: 149,421,989 (GRCm39)	E903D	probably benign	Het
Bpifb3	A	T	2: 153,767,715 (GRCm39)	I263F	probably benign	Het
Cavin3	T	A	7: 105,130,228 (GRCm39)	S195C	probably damaging	Het
Chsy3	C	A	18: 59,312,585 (GRCm39)	R353S	probably damaging	Het
Col5a2	A	G	1: 45,481,890 (GRCm39)	V78A	unknown	Het
Cpxm1	C	T	2: 130,236,146 (GRCm39)	E339K	probably damaging	Het
Cyp26c1	G	T	19: 37,675,660 (GRCm39)	A175S	probably benign	Het
Dnah5	A	T	15: 28,327,489 (GRCm39)	T2069S	probably benign	Het
Ednrb	A	G	14: 104,057,383 (GRCm39)	F393S	probably damaging	Het
Fstl4	T	C	11: 53,053,502 (GRCm39)	S385P	possibly damaging	Het
Gabpb2	G	A	3: 95,112,109 (GRCm39)	S40L	probably damaging	Het
Gabrb1	T	C	5: 72,187,172 (GRCm39)	I155T	probably damaging	Het
Hc	T	A	2: 34,873,731 (GRCm39)	N1668Y	probably benign	Het
Kcnh1	A	G	1: 192,117,124 (GRCm39)	H670R	probably damaging	Het
Krt31	G	A	11: 99,938,603 (GRCm39)	A330V	probably benign	Het
Lrfn2	T	A	17: 49,403,851 (GRCm39)	M658K	possibly damaging	Het
Lrrc1	T	A	9: 77,365,129 (GRCm39)	N184I	probably damaging	Het
Lrrc69	T	C	4: 14,795,994 (GRCm39)	I18V	probably benign	Het
Lvrn	G	A	18: 46,983,289 (GRCm39)	V11M	probably damaging	Het
Map4k4	T	C	1: 40,063,801 (GRCm39)	S1199P	possibly damaging	Het
Mib1	T	C	18: 10,768,233 (GRCm39)		probably null	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Myo18b	C	T	5: 112,908,259 (GRCm39)	V2005I	possibly damaging	Het
Myo6	T	A	9: 80,162,206 (GRCm39)	H314Q	unknown	Het
Nat8f6	A	C	6: 85,785,888 (GRCm39)	M87R	probably benign	Het
Net1	A	G	13: 3,943,458 (GRCm39)		probably benign	Het
Notch4	C	T	17: 34,787,228 (GRCm39)	T294I	possibly damaging	Het
Nrros	A	G	16: 31,966,456 (GRCm39)	L36P	probably damaging	Het
Or8b12i	T	C	9: 20,082,037 (GRCm39)	M277V	probably benign	Het
Or8c9	G	C	9: 38,241,231 (GRCm39)	W113S	probably benign	Het
Padi3	T	C	4: 140,525,407 (GRCm39)	H202R	probably damaging	Het
Pik3ap1	A	T	19: 41,316,538 (GRCm39)	M284K	probably damaging	Het
Prr27	C	A	5: 87,990,710 (GRCm39)	Y107*	probably null	Het
Rlf	A	T	4: 121,005,532 (GRCm39)	S1259R	probably damaging	Het
Rrm2	T	C	12: 24,762,751 (GRCm39)	V298A	probably damaging	Het
Rtn4rl2	A	T	2: 84,711,033 (GRCm39)	L77H	possibly damaging	Het
Skint4	A	G	4: 111,975,173 (GRCm39)	I44M	probably damaging	Het
Spaca7	T	C	8: 12,648,998 (GRCm39)	I164T	probably benign	Het
Spg7	A	G	8: 123,800,568 (GRCm39)	S153G	probably damaging	Het
Spink5	T	C	18: 44,123,786 (GRCm39)	S358P	probably benign	Het
Stx5a	T	C	19: 8,732,462 (GRCm39)	M377T	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttc41	A	G	10: 86,599,844 (GRCm39)	D1048G	probably damaging	Het
Ttn	A	T	2: 76,557,509 (GRCm39)	W29862R	probably damaging	Het
Vmn1r203	T	G	13: 22,709,154 (GRCm39)	*312G	probably null	Het
Vmn2r74	T	G	7: 85,601,914 (GRCm39)	T575P	possibly damaging	Het
Zfp14	A	T	7: 29,738,579 (GRCm39)	N135K	possibly damaging	Het

Other mutations in Rab5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4669:Rab5c	UTSW	11	100,610,843 (GRCm39)	missense	probably damaging	0.99
R7008:Rab5c	UTSW	11	100,610,789 (GRCm39)	missense	probably damaging	0.97
R7012:Rab5c	UTSW	11	100,610,789 (GRCm39)	missense	probably damaging	0.97
R7058:Rab5c	UTSW	11	100,610,789 (GRCm39)	missense	probably damaging	0.97
R7059:Rab5c	UTSW	11	100,610,789 (GRCm39)	missense	probably damaging	0.97
R7060:Rab5c	UTSW	11	100,610,789 (GRCm39)	missense	probably damaging	0.97
R7061:Rab5c	UTSW	11	100,610,789 (GRCm39)	missense	probably damaging	0.97
R7269:Rab5c	UTSW	11	100,606,928 (GRCm39)	missense	probably benign	0.13
R9661:Rab5c	UTSW	11	100,606,917 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCTGGGAGTCAGACGATTTTACC -3'
(R):5'- TGCATTTGCCCAGTCAGTC -3'

Sequencing Primer
(F):5'- GGTATATGAGCACACTGTCACTGAC -3'
(R):5'- CTCTTGATTTATAAGGGCAGAGACC -3'

Posted On

2020-09-02