Mutagenetix > Incidental Mutation

Incidental Mutation 'R4527:Rab11a'

334488

Institutional Source

Beutler Lab

Gene Symbol

Rab11a

Ensembl Gene

ENSMUSG00000004771

Gene Name

RAB11A, member RAS oncogene family

Synonyms

MMRRC Submission

041768-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4527 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64622582-64645038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64632850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 19 (S19P)

Ref Sequence

ENSEMBL: ENSMUSP00000125755 (fasta)

Gene Model

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

AlphaFold

P62492

Predicted Effect

probably benign
Transcript: ENSMUST00000004892

SMART Domains

Protein: ENSMUSP00000004892
Gene: ENSMUSG00000004771

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
AA Change: S19P

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125755
Gene: ENSMUSG00000004771
AA Change: S19P

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

Predicted Effect

unknown
Transcript: ENSMUST00000168366
AA Change: S34P

SMART Domains

Protein: ENSMUSP00000128150
Gene: ENSMUSG00000004771
AA Change: S34P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169058

SMART Domains

Protein: ENSMUSP00000129729
Gene: ENSMUSG00000004771

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171100
AA Change: S30P

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127968
Gene: ENSMUSG00000004771
AA Change: S30P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172298
AA Change: S149P

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129163
Gene: ENSMUSG00000004771
AA Change: S149P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172444

Meta Mutation Damage Score

0.0877

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (40/40)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	A	G	5: 137,682,798 (GRCm39)	V15A	unknown	Het
Asb3	A	G	11: 31,008,933 (GRCm39)	D278G	probably benign	Het
Atrn	T	C	2: 130,815,424 (GRCm39)	I780T	probably benign	Het
Car2	C	T	3: 14,963,065 (GRCm39)	P200L	probably damaging	Het
Cars1	A	T	7: 143,118,786 (GRCm39)	M668K	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cer1	A	G	4: 82,802,906 (GRCm39)	F139L	possibly damaging	Het
Crhr2	T	A	6: 55,109,838 (GRCm39)		probably benign	Het
Dnah7c	G	A	1: 46,572,091 (GRCm39)	E855K	probably benign	Het
Espn	C	T	4: 152,220,106 (GRCm39)	R339Q	probably damaging	Het
Flt3	T	A	5: 147,293,163 (GRCm39)	E481V	probably benign	Het
Gorab	T	G	1: 163,224,705 (GRCm39)	K32T	possibly damaging	Het
Mak16	G	A	8: 31,656,205 (GRCm39)	Q93*	probably null	Het
Muc4	T	C	16: 32,576,217 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,083,249 (GRCm39)	I5409N	probably benign	Het
Olfm4	C	T	14: 80,258,664 (GRCm39)	S304F	probably benign	Het
Pask	A	G	1: 93,248,224 (GRCm39)	F1026L	probably benign	Het
Rab11fip3	T	C	17: 26,255,631 (GRCm39)	D541G	probably damaging	Het
Rnf10	T	C	5: 115,398,210 (GRCm39)	S108G	probably damaging	Het
Rps4l-ps	C	T	7: 114,526,403 (GRCm39)		noncoding transcript	Het
Shank1	A	T	7: 44,004,014 (GRCm39)	H1902L	possibly damaging	Het
Slc8a3	T	C	12: 81,362,627 (GRCm39)	Y64C	probably damaging	Het
Sorbs3	A	C	14: 70,445,066 (GRCm39)	I4S	probably damaging	Het
St18	A	G	1: 6,925,647 (GRCm39)	N935S	probably damaging	Het
Taf4b	T	C	18: 14,954,499 (GRCm39)	V525A	probably damaging	Het
Timm10b	A	G	7: 105,332,013 (GRCm39)	N828S	probably benign	Het
Ttyh1	A	T	7: 4,122,763 (GRCm39)	D4V	probably damaging	Het
Usp34	T	A	11: 23,371,257 (GRCm39)	L53Q	possibly damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r70	A	T	7: 85,208,787 (GRCm39)	N563K	probably damaging	Het
Xrcc5	C	A	1: 72,351,659 (GRCm39)	N76K	probably damaging	Het
Zscan25	T	C	5: 145,220,268 (GRCm39)	V21A	probably 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
IGL02687:Rab11a	APN	9	64,633,980 (GRCm39)	missense	probably damaging	1.00
R0317:Rab11a	UTSW	9	64,632,835 (GRCm39)	missense	probably damaging	0.99
R7860:Rab11a	UTSW	9	64,635,613 (GRCm39)	nonsense	probably null
R8848:Rab11a	UTSW	9	64,624,264 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACTGAAGTGCAACCTGC -3'
(R):5'- GGCCATGCTGAACTAAGTCTTAG -3'

Sequencing Primer
(F):5'- ACTACAGTTGCTCTCTAATGATAGTC -3'
(R):5'- GGCAGATTTCTGTAAATTCCAGGCC -3'

Posted On

2015-08-18