Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02687:Rab11a'

303605

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab11a

Ensembl Gene

ENSMUSG00000004771

Gene Name

RAB11A, member RAS oncogene family

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02687

Quality Score

Status

Chromosome

Chromosomal Location

64622582-64645038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64633980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 119 (I119T)

Ref Sequence

ENSEMBL: ENSMUSP00000129163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004892] [ENSMUST00000167569] [ENSMUST00000169058] [ENSMUST00000171100] [ENSMUST00000172298]

AlphaFold

P62492

Predicted Effect

probably benign
Transcript: ENSMUST00000004892
AA Change: I119T

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000004892
Gene: ENSMUSG00000004771
AA Change: I119T

Domain	Start	End	E-Value	Type
RAB	12	153	1.47e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166857

Predicted Effect

probably benign
Transcript: ENSMUST00000167569

SMART Domains

Protein: ENSMUSP00000125755
Gene: ENSMUSG00000004771

Domain	Start	End	E-Value	Type
Pfam:Ras	5	44	1e-6	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000168366
AA Change: I4T

SMART Domains

Protein: ENSMUSP00000128150
Gene: ENSMUSG00000004771
AA Change: I4T

Domain	Start	End	E-Value	Type
Pfam:Ras	1	59	2.5e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169058
AA Change: I119T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129729
Gene: ENSMUSG00000004771
AA Change: I119T

Domain	Start	End	E-Value	Type
RAB	12	153	5.11e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171100

SMART Domains

Protein: ENSMUSP00000127968
Gene: ENSMUSG00000004771

Domain	Start	End	E-Value	Type
Pfam:Ras	1	55	1e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172298
AA Change: I119T

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

SMART Domains

Protein: ENSMUSP00000129163
Gene: ENSMUSG00000004771
AA Change: I119T

Domain	Start	End	E-Value	Type
RAB	12	175	1.01e-115	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197528

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,005,058 (GRCm39)	V1315A	probably damaging	Het
Adam2	A	T	14: 66,306,639 (GRCm39)	C117S	probably damaging	Het
Arpp21	T	A	9: 111,894,883 (GRCm39)	R792*	probably null	Het
Atp13a3	A	G	16: 30,156,369 (GRCm39)	M938T	probably damaging	Het
Atp6v0a2	C	T	5: 124,791,206 (GRCm39)	T545M	possibly damaging	Het
BC051019	T	C	7: 109,315,559 (GRCm39)	D84G	possibly damaging	Het
Bdkrb1	T	A	12: 105,571,091 (GRCm39)	L219H	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap46	T	C	7: 139,187,117 (GRCm39)	D2415G	probably damaging	Het
Csgalnact2	T	C	6: 118,101,376 (GRCm39)		probably null	Het
Cyp4a29	T	C	4: 115,108,397 (GRCm39)	C374R	probably damaging	Het
Dgkb	C	A	12: 38,680,628 (GRCm39)	P776Q	possibly damaging	Het
Duox1	A	T	2: 122,166,896 (GRCm39)	K1005M	probably damaging	Het
Dusp6	C	A	10: 99,102,044 (GRCm39)	F343L	probably damaging	Het
Espl1	C	T	15: 102,221,613 (GRCm39)		probably benign	Het
Filip1l	T	C	16: 57,391,490 (GRCm39)	S455P	probably benign	Het
Gm7995	A	G	14: 42,133,362 (GRCm39)	I81V	probably damaging	Het
Lingo4	T	C	3: 94,309,404 (GRCm39)	L114P	probably damaging	Het
Mfsd6	A	G	1: 52,747,834 (GRCm39)	S344P	probably damaging	Het
Mpc1	G	A	17: 8,515,975 (GRCm39)	S162N	probably benign	Het
Myh11	T	A	16: 14,030,482 (GRCm39)	K1143*	probably null	Het
Nek10	T	C	14: 14,840,570 (GRCm38)	L152P	probably damaging	Het
Or52ab7	C	T	7: 102,978,607 (GRCm39)	R305*	probably null	Het
Or5ak25	T	A	2: 85,268,930 (GRCm39)	N191Y	possibly damaging	Het
Or6c217	T	C	10: 129,737,971 (GRCm39)	M203V	probably benign	Het
Spata31d1d	T	A	13: 59,875,678 (GRCm39)	H619L	possibly damaging	Het
Ulk4	A	T	9: 121,021,728 (GRCm39)	V661E	possibly damaging	Het
Vmn1r199	T	C	13: 22,566,961 (GRCm39)	V85A	possibly damaging	Het

Other mutations in Rab11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02474:Rab11a	APN	9	64,633,929 (GRCm39)	missense	possibly damaging	0.89
R0317:Rab11a	UTSW	9	64,632,835 (GRCm39)	missense	probably damaging	0.99
R4527:Rab11a	UTSW	9	64,632,850 (GRCm39)	missense	probably benign	0.38
R7860:Rab11a	UTSW	9	64,635,613 (GRCm39)	nonsense	probably null
R8848:Rab11a	UTSW	9	64,624,264 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16