Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01793:Rab40c'

155278

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab40c

Ensembl Gene

ENSMUSG00000025730

Gene Name

Rab40C, member RAS oncogene family

Synonyms

RAR3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

IGL01793

Quality Score

Status

Chromosome

Chromosomal Location

26101088-26138688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26103596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 156 (L156F)

Ref Sequence

ENSEMBL: ENSMUSP00000127868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026826] [ENSMUST00000095487] [ENSMUST00000163356] [ENSMUST00000164738] [ENSMUST00000164982] [ENSMUST00000166146] [ENSMUST00000179998] [ENSMUST00000167018] [ENSMUST00000167626] [ENSMUST00000176696]

AlphaFold

Q8VHQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000026826
AA Change: L175F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026826
Gene: ENSMUSG00000025730
AA Change: L175F

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 benign
Transcript: ENSMUST00000095487

SMART Domains

Protein: ENSMUSP00000093141
Gene: ENSMUSG00000071192

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
WAP	32	82	4.04e-3	SMART
KAZAL	119	161	1.96e-2	SMART
IGc2	202	274	2.54e-14	SMART
KU	301	356	4.2e-3	SMART
KU	361	414	1.82e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163356

SMART Domains

Protein: ENSMUSP00000130209
Gene: ENSMUSG00000025731

Domain	Start	End	E-Value	Type
Pfam:DUF938	1	172	1.6e-74	PFAM
Pfam:Methyltransf_25	31	133	9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164738

SMART Domains

Protein: ENSMUSP00000130093
Gene: ENSMUSG00000025730

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 damaging
Transcript: ENSMUST00000164982
AA Change: L156F

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

SMART Domains

Protein: ENSMUSP00000127868
Gene: ENSMUSG00000025730
AA Change: L156F

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 benign
Transcript: ENSMUST00000166146

SMART Domains

Protein: ENSMUSP00000132355
Gene: ENSMUSG00000025730

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166619

Predicted Effect

probably damaging
Transcript: ENSMUST00000179998
AA Change: L175F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136612
Gene: ENSMUSG00000025730
AA Change: L175F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167018
AA Change: L175F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131055
Gene: ENSMUSG00000025730
AA Change: L175F

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: L175F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127546
Gene: ENSMUSG00000025730
AA Change: L175F

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

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172168

Predicted Effect

probably benign
Transcript: ENSMUST00000176696

SMART Domains

Protein: ENSMUSP00000135083
Gene: ENSMUSG00000071192

Domain	Start	End	E-Value	Type
WAP	2	48	8.8e-2	SMART
KAZAL	85	127	1.96e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	G	1: 58,375,783 (GRCm39)	I871V	possibly damaging	Het
Bbs7	A	T	3: 36,659,831 (GRCm39)		probably null	Het
D930020B18Rik	T	C	10: 121,507,736 (GRCm39)	I158T	probably damaging	Het
Drc7	T	C	8: 95,797,905 (GRCm39)	I441T	probably benign	Het
Etl4	T	C	2: 20,748,709 (GRCm39)	I147T	possibly damaging	Het
Fat1	G	A	8: 45,442,149 (GRCm39)	M1150I	probably benign	Het
Fbn1	T	C	2: 125,229,213 (GRCm39)	S523G	possibly damaging	Het
Gramd1a	C	T	7: 30,833,838 (GRCm39)		probably null	Het
Hc	A	G	2: 34,918,202 (GRCm39)	Y694H	probably damaging	Het
Kif6	T	A	17: 49,931,521 (GRCm39)	I73N	probably damaging	Het
Large1	A	G	8: 73,585,809 (GRCm39)		probably benign	Het
Luzp2	G	T	7: 54,821,997 (GRCm39)	L171F	probably damaging	Het
Naaladl1	C	A	19: 6,159,661 (GRCm39)		probably null	Het
Otop1	G	A	5: 38,457,215 (GRCm39)	A325T	possibly damaging	Het
Parp8	T	A	13: 117,047,415 (GRCm39)	Y219F	probably damaging	Het
Pkp3	A	G	7: 140,668,817 (GRCm39)	I660V	probably benign	Het
Plin3	T	C	17: 56,588,540 (GRCm39)	N238S	probably benign	Het
Ppef2	A	T	5: 92,394,615 (GRCm39)	D186E	probably damaging	Het
Scnn1a	T	C	6: 125,320,666 (GRCm39)	V547A	probably benign	Het
Spag6l	A	G	16: 16,599,721 (GRCm39)	V247A	probably damaging	Het
Syne1	T	C	10: 5,302,191 (GRCm39)	E853G	possibly damaging	Het
Synj2	C	T	17: 6,077,500 (GRCm39)	R460*	probably null	Het
Synj2	T	A	17: 6,088,321 (GRCm39)	H1457Q	probably benign	Het
Syt1	T	C	10: 108,419,836 (GRCm39)	D275G	possibly damaging	Het
Tmx1	A	G	12: 70,505,561 (GRCm39)	D108G	probably benign	Het
Vmn1r180	T	C	7: 23,652,668 (GRCm39)	V277A	probably benign	Het
Vmn1r83	C	T	7: 12,055,504 (GRCm39)	M184I	probably benign	Het
Zfp750	G	T	11: 121,404,810 (GRCm39)	P22T	probably damaging	Het
Zscan2	A	G	7: 80,524,692 (GRCm39)	I138V	probably null	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
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
R7047:Rab40c	UTSW	17	26,138,458 (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

Posted On

2014-02-04