Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Rab40c'

180700

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: 0.188) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

26101088-26138688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 26103644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 140 (C140G)

Ref Sequence

ENSEMBL: ENSMUSP00000127868 (fasta)

Gene Model

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

AlphaFold

Q8VHQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000026826
AA Change: C159G

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

SMART Domains

Protein: ENSMUSP00000026826
Gene: ENSMUSG00000025730
AA Change: C159G

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: C140G

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

SMART Domains

Protein: ENSMUSP00000127868
Gene: ENSMUSG00000025730
AA Change: C140G

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: C159G

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

SMART Domains

Protein: ENSMUSP00000136612
Gene: ENSMUSG00000025730
AA Change: C159G

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: ENSMUST00000167626
AA Change: C159G

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

SMART Domains

Protein: ENSMUSP00000127546
Gene: ENSMUSG00000025730
AA Change: C159G

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: ENSMUST00000167018
AA Change: C159G

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

SMART Domains

Protein: ENSMUSP00000131055
Gene: ENSMUSG00000025730
AA Change: C159G

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

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
C3ar1	T	A	6: 122,828,194 (GRCm39)	T8S	probably benign	Het
Caskin2	T	C	11: 115,695,543 (GRCm39)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Col7a1	T	A	9: 108,797,067 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Ctcf	T	C	8: 106,396,864 (GRCm39)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm39)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Hyls1	T	C	9: 35,473,363 (GRCm39)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,868,708 (GRCm39)	G350C	probably damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Nr2e1	T	A	10: 42,443,969 (GRCm39)	D251V	possibly damaging	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	probably damaging	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
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

2014-05-07