Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01129:Rab14'

50587

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab14

Ensembl Gene

ENSMUSG00000026878

Gene Name

RAB14, member RAS oncogene family

Synonyms

2810475J17Rik, 0610030G24Rik, D030017L14Rik, A830021G03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

35070217-35091132 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 35073398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028237] [ENSMUST00000028238] [ENSMUST00000113025] [ENSMUST00000113032] [ENSMUST00000113037] [ENSMUST00000230751]

AlphaFold

Q91V41

Predicted Effect

probably benign
Transcript: ENSMUST00000028237

SMART Domains

Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
LRR	146	167	2.54e1	SMART
LRR	168	190	3.24e0	SMART
LRR	192	214	7.16e0	SMART
Blast:LRR	217	239	8e-6	BLAST
low complexity region	275	292	N/A	INTRINSIC
coiled coil region	437	800	N/A	INTRINSIC
coiled coil region	858	971	N/A	INTRINSIC
low complexity region	975	995	N/A	INTRINSIC
coiled coil region	998	1102	N/A	INTRINSIC
internal_repeat_1	1119	1132	1.95e-5	PROSPERO
low complexity region	1153	1161	N/A	INTRINSIC
low complexity region	1268	1301	N/A	INTRINSIC
coiled coil region	1320	1629	N/A	INTRINSIC
coiled coil region	1661	2155	N/A	INTRINSIC
low complexity region	2193	2208	N/A	INTRINSIC
internal_repeat_1	2252	2265	1.95e-5	PROSPERO
low complexity region	2289	2307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000028238

SMART Domains

Protein: ENSMUSP00000028238
Gene: ENSMUSG00000026878

Domain	Start	End	E-Value	Type
RAB	12	175	1.4e-109	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113025

SMART Domains

Protein: ENSMUSP00000108648
Gene: ENSMUSG00000026878

Domain	Start	End	E-Value	Type
RAB	12	151	5.28e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113032

SMART Domains

Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
low complexity region	20	53	N/A	INTRINSIC
coiled coil region	72	381	N/A	INTRINSIC
coiled coil region	413	907	N/A	INTRINSIC
low complexity region	945	960	N/A	INTRINSIC
coiled coil region	989	1011	N/A	INTRINSIC
low complexity region	1041	1059	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113037

SMART Domains

Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
coiled coil region	1	247	N/A	INTRINSIC
internal_repeat_3	261	278	5.34e-5	PROSPERO
coiled coil region	305	548	N/A	INTRINSIC
internal_repeat_1	565	578	1.42e-6	PROSPERO
internal_repeat_2	567	595	2.58e-5	PROSPERO
low complexity region	599	607	N/A	INTRINSIC
internal_repeat_2	625	652	2.58e-5	PROSPERO
low complexity region	714	747	N/A	INTRINSIC
coiled coil region	766	1075	N/A	INTRINSIC
internal_repeat_3	1094	1111	5.34e-5	PROSPERO
low complexity region	1183	1223	N/A	INTRINSIC
low complexity region	1343	1355	N/A	INTRINSIC
low complexity region	1365	1387	N/A	INTRINSIC
low complexity region	1399	1414	N/A	INTRINSIC
low complexity region	1420	1431	N/A	INTRINSIC
low complexity region	1639	1654	N/A	INTRINSIC
internal_repeat_1	1698	1711	1.42e-6	PROSPERO
low complexity region	1735	1753	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202602

Predicted Effect

probably benign
Transcript: ENSMUST00000230751

Predicted Effect

probably benign
Transcript: ENSMUST00000230657

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	A	T	X: 66,964,210 (GRCm39)	F216L	possibly damaging	Het
Bace2	T	G	16: 97,209,630 (GRCm39)	N181K	probably damaging	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ckap2	C	T	8: 22,659,774 (GRCm39)	G569D	probably damaging	Het
Col11a1	T	C	3: 113,979,522 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,535,846 (GRCm39)	D939N	unknown	Het
Creb3l2	A	T	6: 37,330,569 (GRCm39)		probably benign	Het
Cuedc1	T	A	11: 88,074,080 (GRCm39)	S205T	possibly damaging	Het
Cux1	G	A	5: 136,333,572 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,035,089 (GRCm39)	M256V	probably benign	Het
Gzf1	C	A	2: 148,532,916 (GRCm39)	P690Q	probably damaging	Het
Lrch3	T	A	16: 32,815,335 (GRCm39)	D575E	probably benign	Het
Lypd3	A	G	7: 24,340,018 (GRCm39)	M362V	probably benign	Het
Mppe1	C	A	18: 67,370,515 (GRCm39)	G61*	probably null	Het
Nr2c2	T	A	6: 92,135,397 (GRCm39)	D328E	probably benign	Het
Or6b9	T	C	7: 106,555,634 (GRCm39)	N170D	probably damaging	Het
Pfn4	T	A	12: 4,825,505 (GRCm39)	V114E	probably damaging	Het
Slc30a9	G	T	5: 67,499,486 (GRCm39)	G315C	probably damaging	Het
Spag16	A	T	1: 69,935,681 (GRCm39)	S303C	probably benign	Het
Spata16	C	T	3: 26,967,333 (GRCm39)		probably benign	Het
Srcap	T	C	7: 127,120,823 (GRCm39)	V161A	probably damaging	Het
Srd5a3	A	G	5: 76,297,593 (GRCm39)		probably benign	Het
Vmn1r18	A	T	6: 57,367,482 (GRCm39)	F24Y	probably benign	Het
Vmn1r78	A	T	7: 11,887,165 (GRCm39)	T259S	probably benign	Het
Zc3h13	G	A	14: 75,573,439 (GRCm39)	D1527N	probably damaging	Het

Other mutations in Rab14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1676:Rab14	UTSW	2	35,076,735 (GRCm39)	missense	possibly damaging	0.47
R2410:Rab14	UTSW	2	35,076,762 (GRCm39)	splice site	probably null
R4832:Rab14	UTSW	2	35,079,978 (GRCm39)	missense	probably damaging	1.00
R5537:Rab14	UTSW	2	35,082,649 (GRCm39)	missense	possibly damaging	0.61
R7061:Rab14	UTSW	2	35,073,429 (GRCm39)	nonsense	probably null
R7701:Rab14	UTSW	2	35,073,427 (GRCm39)	missense
R9779:Rab14	UTSW	2	35,080,047 (GRCm39)	missense
Z1176:Rab14	UTSW	2	35,076,719 (GRCm39)	missense

Posted On

2013-06-21