Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01473:Rab11fip3'

88351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab11fip3

Ensembl Gene

ENSMUSG00000037098

Gene Name

RAB11 family interacting protein 3 (class II)

Synonyms

D030060O14Rik, Rab11-FIP3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01473

Quality Score

Status

Chromosome

Chromosomal Location

25989036-26069409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26068735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 148 (R148Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120691] [ENSMUST00000122103]

AlphaFold

Q8CHD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120691
AA Change: R148Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098
AA Change: R148Q

Domain	Start	End	E-Value	Type
internal_repeat_1	29	130	3.12e-31	PROSPERO
internal_repeat_1	144	294	3.12e-31	PROSPERO
EFh	500	528	3.03e-1	SMART
EFh	532	560	3.86e1	SMART
low complexity region	739	751	N/A	INTRINSIC
low complexity region	916	936	N/A	INTRINSIC
Blast:BRLZ	938	988	2e-11	BLAST
Pfam:RBD-FIP	1007	1047	4.7e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122103
AA Change: R148Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098
AA Change: R148Q

Domain	Start	End	E-Value	Type
internal_repeat_1	29	130	2.03e-32	PROSPERO
internal_repeat_1	144	294	2.03e-32	PROSPERO
EFh	500	528	3.03e-1	SMART
EFh	532	560	3.86e1	SMART
low complexity region	784	796	N/A	INTRINSIC
low complexity region	961	981	N/A	INTRINSIC
Blast:BRLZ	983	1033	2e-11	BLAST
Pfam:RBD-FIP	1052	1092	4.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126306

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	C	16: 29,316,724	Y350C	probably damaging	Het
Ccdc151	C	A	9: 21,995,379		probably null	Het
Clca1	C	T	3: 145,007,778	M697I	probably benign	Het
Clcn1	C	A	6: 42,291,703	A181D	probably damaging	Het
Cylc1	G	T	X: 111,122,680	K243N	unknown	Het
Dsp	A	G	13: 38,167,571	Y122C	probably damaging	Het
Exoc5	A	G	14: 49,014,294	V665A	possibly damaging	Het
Fcho1	G	A	8: 71,712,138	P500S	probably benign	Het
Flg2	A	G	3: 93,203,020	E785G	unknown	Het
Fpr1	A	G	17: 17,877,692	S12P	possibly damaging	Het
Hydin	A	T	8: 110,312,160	M177L	probably benign	Het
Hydin	G	T	8: 110,354,953	G327V	probably damaging	Het
Itga10	G	A	3: 96,647,641	G97E	probably damaging	Het
Khdc1c	T	A	1: 21,368,906	Y39N	possibly damaging	Het
Lrp1b	T	G	2: 40,611,486	T202P	probably damaging	Het
March10	T	C	11: 105,389,605	K618R	probably damaging	Het
Mdc1	C	A	17: 35,848,020	L431I	probably benign	Het
Mmp17	A	G	5: 129,606,408	D536G	probably benign	Het
Myh8	G	A	11: 67,301,825		probably null	Het
Pop4	A	G	7: 38,264,396	V154A	probably benign	Het
Ppp1r13l	C	T	7: 19,375,268	R608C	probably damaging	Het
Prss36	T	C	7: 127,944,701	H166R	probably damaging	Het
Rbm39	T	A	2: 156,172,979	R49*	probably null	Het
S100a11	T	C	3: 93,526,106	C86R	probably damaging	Het
Skint7	T	C	4: 111,982,205	I232T	probably damaging	Het
Smchd1	G	A	17: 71,389,750	T1210I	probably benign	Het
Speg	C	T	1: 75,428,285	T2907I	possibly damaging	Het
Spz1	A	T	13: 92,575,256	C237*	probably null	Het
Sun3	G	T	11: 9,029,394	D42E	probably benign	Het
Tgds	C	T	14: 118,128,214		probably benign	Het
Tnxb	G	A	17: 34,685,701	D1270N	probably damaging	Het
Vmn2r78	A	C	7: 86,920,312	T138P	possibly damaging	Het
Wdfy1	T	C	1: 79,707,465	I351V	probably benign	Het

Other mutations in Rab11fip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Rab11fip3	APN	17	25991809	splice site	probably benign
IGL00420:Rab11fip3	APN	17	26067625	missense	probably benign	0.20
IGL01291:Rab11fip3	APN	17	26016113	missense	probably damaging	0.99
IGL01687:Rab11fip3	APN	17	26067982	missense	probably damaging	0.97
IGL01764:Rab11fip3	APN	17	26068693	missense	probably benign	0.02
IGL01977:Rab11fip3	APN	17	26068003	missense	possibly damaging	0.72
IGL02140:Rab11fip3	APN	17	26067892	missense	probably benign	0.33
IGL02434:Rab11fip3	APN	17	26068835	missense	possibly damaging	0.85
IGL02549:Rab11fip3	APN	17	25994320	missense	probably damaging	0.96
IGL02889:Rab11fip3	APN	17	26067679	missense	possibly damaging	0.84
IGL02953:Rab11fip3	APN	17	26067679	missense	possibly damaging	0.84
ANU05:Rab11fip3	UTSW	17	26016113	missense	probably damaging	0.99
R0193:Rab11fip3	UTSW	17	25990999	missense	probably damaging	0.99
R0388:Rab11fip3	UTSW	17	26069072	missense	probably benign	0.33
R0543:Rab11fip3	UTSW	17	25994225	missense	probably damaging	1.00
R0678:Rab11fip3	UTSW	17	26068847	missense	probably benign	0.00
R1283:Rab11fip3	UTSW	17	26004554	missense	probably damaging	1.00
R1473:Rab11fip3	UTSW	17	25991322	missense	probably damaging	1.00
R1625:Rab11fip3	UTSW	17	26068891	missense	possibly damaging	0.72
R1973:Rab11fip3	UTSW	17	26024391	missense	probably damaging	0.97
R2160:Rab11fip3	UTSW	17	26069054	missense	probably benign	0.33
R2197:Rab11fip3	UTSW	17	26068178	missense	probably benign
R2382:Rab11fip3	UTSW	17	25990867	nonsense	probably null
R3028:Rab11fip3	UTSW	17	26015942	critical splice donor site	probably null
R3797:Rab11fip3	UTSW	17	26068526	missense	possibly damaging	0.73
R4012:Rab11fip3	UTSW	17	26068028	frame shift	probably null
R4064:Rab11fip3	UTSW	17	26024394	missense	probably damaging	0.97
R4478:Rab11fip3	UTSW	17	26016083	missense	probably damaging	1.00
R4527:Rab11fip3	UTSW	17	26036657	missense	probably damaging	1.00
R4565:Rab11fip3	UTSW	17	26068706	missense	possibly damaging	0.73
R5048:Rab11fip3	UTSW	17	26067580	critical splice donor site	probably null
R5138:Rab11fip3	UTSW	17	25991026	missense	probably benign	0.32
R5317:Rab11fip3	UTSW	17	26068078	missense	possibly damaging	0.72
R5453:Rab11fip3	UTSW	17	25992581	critical splice donor site	probably null
R5495:Rab11fip3	UTSW	17	26016143	missense	probably damaging	0.99
R5525:Rab11fip3	UTSW	17	25991295	missense	probably damaging	1.00
R5654:Rab11fip3	UTSW	17	26016064	missense	probably damaging	1.00
R5716:Rab11fip3	UTSW	17	26036664	missense	probably damaging	1.00
R5818:Rab11fip3	UTSW	17	26016116	missense	probably damaging	1.00
R6044:Rab11fip3	UTSW	17	26067869	missense	possibly damaging	0.93
R6716:Rab11fip3	UTSW	17	25991057	missense	probably damaging	1.00
R6785:Rab11fip3	UTSW	17	25991718	missense	probably damaging	0.99
R7161:Rab11fip3	UTSW	17	26069090	missense	probably benign	0.09
R7390:Rab11fip3	UTSW	17	26068152	missense	possibly damaging	0.81
R7447:Rab11fip3	UTSW	17	26068874	missense	possibly damaging	0.66
R7836:Rab11fip3	UTSW	17	26068258	missense	possibly damaging	0.82
R7981:Rab11fip3	UTSW	17	25997989	missense	probably damaging	0.98
R8008:Rab11fip3	UTSW	17	26067982	missense	probably damaging	0.97
R8887:Rab11fip3	UTSW	17	26067953	missense	possibly damaging	0.83
R8962:Rab11fip3	UTSW	17	26012033	missense	probably damaging	1.00
R9250:Rab11fip3	UTSW	17	26018245	missense	unknown
R9329:Rab11fip3	UTSW	17	26012058	missense	probably benign	0.15
R9506:Rab11fip3	UTSW	17	25994276	missense	probably damaging	1.00

Posted On

2013-11-18