Mutagenetix > Incidental Mutation

Incidental Mutation 'R7047:Rab40c'

547390

Institutional Source

Beutler Lab

Gene Symbol

Rab40c

Ensembl Gene

ENSMUSG00000025730

Gene Name

Rab40C, member RAS oncogene family

Synonyms

RAR3

MMRRC Submission

045145-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26101088-26138688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 26138458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 8 (V8G)

Ref Sequence

ENSEMBL: ENSMUSP00000136612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026826] [ENSMUST00000164738] [ENSMUST00000164982] [ENSMUST00000166146] [ENSMUST00000167018] [ENSMUST00000167626] [ENSMUST00000179998]

AlphaFold

Q8VHQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000026826
AA Change: V8G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026826
Gene: ENSMUSG00000025730
AA Change: V8G

Domain	Start	End	E-Value	Type
RAB	15	177	9.2e-77	SMART
SOCS	183	226	1.6e-18	SMART
SOCS_box	189	225	7.2e-10	SMART
low complexity region	238	262	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164738
AA Change: V8G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130093
Gene: ENSMUSG00000025730
AA Change: V8G

Domain	Start	End	E-Value	Type
Pfam:Arf	5	110	5.2e-7	PFAM
Pfam:Miro	16	111	4.2e-12	PFAM
Pfam:Ras	16	111	2.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164982
AA Change: V8G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127868
Gene: ENSMUSG00000025730
AA Change: V8G

Domain	Start	End	E-Value	Type
RAB	15	158	5.56e-54	SMART
SOCS	164	207	2.56e-16	SMART
SOCS_box	170	206	9.29e-6	SMART
low complexity region	219	243	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166146
AA Change: V8G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132355
Gene: ENSMUSG00000025730
AA Change: V8G

Domain	Start	End	E-Value	Type
SCOP:d3raba_	10	43	3e-9	SMART
Blast:RAB	15	49	1e-15	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000167018
AA Change: V8G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131055
Gene: ENSMUSG00000025730
AA Change: V8G

Domain	Start	End	E-Value	Type
RAB	15	177	1.88e-74	SMART
SOCS	183	226	2.56e-16	SMART
SOCS_box	189	225	9.29e-6	SMART
low complexity region	238	262	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167626
AA Change: V8G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127546
Gene: ENSMUSG00000025730
AA Change: V8G

Domain	Start	End	E-Value	Type
RAB	15	177	9.2e-77	SMART
SOCS	183	226	1.6e-18	SMART
SOCS_box	189	225	7.2e-10	SMART
low complexity region	238	262	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179998
AA Change: V8G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136612
Gene: ENSMUSG00000025730
AA Change: V8G

Domain	Start	End	E-Value	Type
RAB	15	177	9.4e-77	SMART
SOCS	183	226	1.7e-18	SMART
SOCS_box	189	225	7.3e-10	SMART
low complexity region	238	262	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,131 (GRCm39)	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,087,585 (GRCm39)	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,162,145 (GRCm39)	I95V	probably damaging	Het
Anapc1	A	C	2: 128,457,350 (GRCm39)	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,693,865 (GRCm39)		probably null	Het
Capn11	G	T	17: 45,949,622 (GRCm39)	S448*	probably null	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Cep55	T	A	19: 38,048,539 (GRCm39)	V65D	possibly damaging	Het
Col5a1	A	G	2: 27,818,096 (GRCm39)	K107R	unknown	Het
Dbh	T	A	2: 27,055,622 (GRCm39)	I32N	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,802,489 (GRCm39)	N13K	probably benign	Het
Emilin1	A	G	5: 31,074,422 (GRCm39)	N221S	probably benign	Het
Ext2	A	G	2: 93,570,002 (GRCm39)	F470L	probably damaging	Het
Filip1	T	A	9: 79,760,916 (GRCm39)	Q206L	probably damaging	Het
Garin1b	T	A	6: 29,323,809 (GRCm39)	L178H	probably damaging	Het
Gpr63	G	T	4: 25,007,320 (GRCm39)	A15S	probably benign	Het
Grhl3	T	C	4: 135,276,551 (GRCm39)		probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Ift172	G	T	5: 31,433,238 (GRCm39)	Y193*	probably null	Het
Ints1	A	C	5: 139,744,226 (GRCm39)	L1512*	probably null	Het
Kat2b	A	G	17: 53,970,597 (GRCm39)	Q661R	probably benign	Het
Kat6a	A	G	8: 23,428,554 (GRCm39)	N1303S	possibly damaging	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Maml2	T	C	9: 13,532,177 (GRCm39)		probably benign	Het
Mixl1	A	G	1: 180,524,183 (GRCm39)		probably null	Het
Mocs1	T	C	17: 49,759,887 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,962,236 (GRCm39)	N36T	probably damaging	Het
Msr1	G	A	8: 40,095,657 (GRCm39)	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,490,199 (GRCm39)	Y509*	probably null	Het
Nsmce1	C	A	7: 125,090,606 (GRCm39)	G4C	probably benign	Het
Or4c113	A	T	2: 88,885,490 (GRCm39)	F93L	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,918 (GRCm39)	V83A	probably damaging	Het
Pan3	G	A	5: 147,483,175 (GRCm39)	G452D	probably damaging	Het
Pcyox1	G	T	6: 86,365,891 (GRCm39)	P441H	probably damaging	Het
Phf12	T	C	11: 77,904,099 (GRCm39)	V273A	probably damaging	Het
Plcd4	A	G	1: 74,591,148 (GRCm39)	E181G	possibly damaging	Het
Ptgfr	A	T	3: 151,541,178 (GRCm39)	I110N	possibly damaging	Het
Rasal3	T	A	17: 32,615,458 (GRCm39)	Y460F	probably damaging	Het
Rhbdf2	A	G	11: 116,494,477 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,839,286 (GRCm39)	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,450,451 (GRCm39)	I4166F	probably damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Smarca2	C	T	19: 26,646,555 (GRCm39)	S651L	possibly damaging	Het
Sned1	A	T	1: 93,213,540 (GRCm39)	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,860,249 (GRCm39)	Y41H	probably damaging	Het
Stab2	C	T	10: 86,694,016 (GRCm39)	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,844,294 (GRCm39)	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,074,679 (GRCm39)	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,720,112 (GRCm39)	T116S	probably benign	Het
Tnfrsf19	A	T	14: 61,242,667 (GRCm39)	C72*	probably null	Het
Usp17le	T	A	7: 104,417,640 (GRCm39)	T501S	probably benign	Het
Wnt5b	T	A	6: 119,425,217 (GRCm39)		probably benign	Het

Other mutations in Rab40c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Rab40c	APN	17	26,104,059 (GRCm39)	missense	probably damaging	1.00
IGL01793:Rab40c	APN	17	26,103,596 (GRCm39)	missense	probably damaging	1.00
IGL01936:Rab40c	APN	17	26,103,644 (GRCm39)	missense	probably damaging	0.99
R0089:Rab40c	UTSW	17	26,104,122 (GRCm39)	missense	probably damaging	1.00
R0456:Rab40c	UTSW	17	26,103,631 (GRCm39)	missense	possibly damaging	0.68
R0837:Rab40c	UTSW	17	26,103,667 (GRCm39)	missense	probably damaging	1.00
R1547:Rab40c	UTSW	17	26,102,724 (GRCm39)	missense	probably damaging	1.00
R5488:Rab40c	UTSW	17	26,109,643 (GRCm39)	missense	probably damaging	0.98
R5955:Rab40c	UTSW	17	26,103,631 (GRCm39)	missense	probably damaging	0.98
R8923:Rab40c	UTSW	17	26,102,664 (GRCm39)	missense	probably benign	0.01
R8951:Rab40c	UTSW	17	26,138,407 (GRCm39)	missense	probably damaging	1.00
X0028:Rab40c	UTSW	17	26,109,682 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTAGTAGCCACCAGGACC -3'
(R):5'- GGACGGGACTTCAGTGATAGAC -3'

Sequencing Primer
(F):5'- CAGAGGATACCGCAGCGAC -3'
(R):5'- CTTCAGTGATAGACAAGCATGTAGAC -3'

Posted On

2019-05-13