Mutagenetix > Incidental Mutations

Incidental Mutation 'R0837:Rab40c'

78017

Institutional Source

Beutler Lab

Gene Symbol

Rab40c

Ensembl Gene

ENSMUSG00000025730

Gene Name

Rab40C, member RAS oncogene family

Synonyms

RAR3

MMRRC Submission

039016-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R0837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25882114-25919727 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25884693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 151 (T151I)

Ref Sequence

ENSEMBL: ENSMUSP00000136612 (fasta)

Gene Model

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

AlphaFold

Q8VHQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000026826
AA Change: T151I

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

SMART Domains

Protein: ENSMUSP00000026826
Gene: ENSMUSG00000025730
AA Change: T151I

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: T132I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127868
Gene: ENSMUSG00000025730
AA Change: T132I

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: ENSMUST00000167018
AA Change: T151I

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

SMART Domains

Protein: ENSMUSP00000131055
Gene: ENSMUSG00000025730
AA Change: T151I

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: T151I

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

SMART Domains

Protein: ENSMUSP00000127546
Gene: ENSMUSG00000025730
AA Change: T151I

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: 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000179998
AA Change: T151I

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

SMART Domains

Protein: ENSMUSP00000136612
Gene: ENSMUSG00000025730
AA Change: T151I

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

noncoding transcript
Transcript: ENSMUST00000180868

Meta Mutation Damage Score

0.3303

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

96% (44/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	C	14: 60,095,926		probably benign	Het
4930579C12Rik	A	G	9: 89,168,207		noncoding transcript	Het
Adam34	T	A	8: 43,651,500	K369N	probably benign	Het
Ap1g1	T	C	8: 109,851,065	W481R	probably damaging	Het
Bicdl1	G	A	5: 115,731,292	P26S	probably benign	Het
Cacna1c	A	T	6: 118,630,270	C1224*	probably null	Het
Cpsf2	C	T	12: 101,997,242		probably benign	Het
Cyp11b2	G	A	15: 74,853,641	R210W	probably damaging	Het
Dock7	C	T	4: 98,989,258	V1048I	probably benign	Het
Dync2h1	C	A	9: 7,077,979	A2908S	probably benign	Het
Elane	A	G	10: 79,887,108	D116G	probably damaging	Het
Epb41l2	C	T	10: 25,507,816	R153C	probably damaging	Het
Gucy2c	G	A	6: 136,722,420	P617L	probably damaging	Het
Hist2h2ab	G	A	3: 96,220,123	A70T	probably damaging	Het
Kcnq4	T	A	4: 120,746,861	I106L	probably benign	Het
Man2b1	A	G	8: 85,096,829	N931D	possibly damaging	Het
Mthfs	A	G	9: 89,215,390	E100G	probably damaging	Het
Mto1	A	T	9: 78,473,790	I639F	probably damaging	Het
Myo15	A	G	11: 60,487,251	E177G	probably damaging	Het
Naip5	T	A	13: 100,230,743	M282L	probably benign	Het
Olfr433	A	G	1: 174,042,487	D179G	probably damaging	Het
Pik3c2g	G	A	6: 139,957,699		probably benign	Het
Prl7d1	T	A	13: 27,714,338	M64L	probably benign	Het
Prnp	A	T	2: 131,936,524	N32I	probably damaging	Het
Ptpn11	C	T	5: 121,149,111	V406I	probably benign	Het
Rb1cc1	T	A	1: 6,234,271		probably null	Het
Rnf145	T	C	11: 44,524,988	V10A	probably benign	Het
Rtn4rl2	T	C	2: 84,880,692	N70S	probably damaging	Het
Scaper	A	T	9: 55,859,042	C483*	probably null	Het
Sema4a	T	A	3: 88,453,098	Q58L	possibly damaging	Het
Slf1	T	C	13: 77,100,948		probably null	Het
Sycp1	G	T	3: 102,915,245	N364K	probably benign	Het
Tenm4	T	C	7: 96,896,275		probably benign	Het
Tnfaip2	A	G	12: 111,450,707	T537A	probably damaging	Het
Trappc12	A	G	12: 28,703,597	I573T	possibly damaging	Het
Ugt2b38	G	A	5: 87,411,773	T420I	probably damaging	Het
Ulk1	A	T	5: 110,789,545		probably benign	Het
Unc80	G	A	1: 66,648,944	C2367Y	possibly damaging	Het
Usp7	C	A	16: 8,703,502	G135C	probably damaging	Het
Vmn2r103	A	G	17: 19,793,927	Y327C	probably damaging	Het
Vmn2r28	T	A	7: 5,488,027	H407L	probably damaging	Het
Zfp804a	A	C	2: 82,259,162	T1112P	probably damaging	Het
Zfr2	A	G	10: 81,245,408	K431E	probably damaging	Het
Zfy1	A	T	Y: 725,850	Y638*	probably null	Het

Other mutations in Rab40c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Rab40c	APN	17	25885085	missense	probably damaging	1.00
IGL01793:Rab40c	APN	17	25884622	missense	probably damaging	1.00
IGL01936:Rab40c	APN	17	25884670	missense	probably damaging	0.99
R0089:Rab40c	UTSW	17	25885148	missense	probably damaging	1.00
R0456:Rab40c	UTSW	17	25884657	missense	possibly damaging	0.68
R1547:Rab40c	UTSW	17	25883750	missense	probably damaging	1.00
R5488:Rab40c	UTSW	17	25890669	missense	probably damaging	0.98
R5955:Rab40c	UTSW	17	25884657	missense	probably damaging	0.98
R7047:Rab40c	UTSW	17	25919484	missense	probably damaging	0.98
R8923:Rab40c	UTSW	17	25883690	missense	probably benign	0.01
R8951:Rab40c	UTSW	17	25919433	missense	probably damaging	1.00
X0028:Rab40c	UTSW	17	25890708	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TTGCTGAGTTGCACATCCTGCC -3'
(R):5'- GTGCCTCTGCTAAGTTCTGAACCC -3'

Sequencing Primer
(F):5'- TAGGTCTGAGCAGGCAGTC -3'
(R):5'- GCTAAGTTCTGAACCCCCTATC -3'

Posted On

2013-10-16