Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01505:Rab11fip1'

89015

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab11fip1

Ensembl Gene

ENSMUSG00000031488

Gene Name

RAB11 family interacting protein 1 (class I)

Synonyms

4833414G05Rik, 2010200K21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

27138773-27174646 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27154776 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 327 (M327K)

Ref Sequence

ENSEMBL: ENSMUSP00000147543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033878] [ENSMUST00000054212] [ENSMUST00000209377]

Predicted Effect

probably benign
Transcript: ENSMUST00000033878
AA Change: M327K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488
AA Change: M327K

Domain	Start	End	E-Value	Type
C2	19	125	1.57e-13	SMART
low complexity region	173	185	N/A	INTRINSIC
low complexity region	201	227	N/A	INTRINSIC
low complexity region	260	273	N/A	INTRINSIC
low complexity region	373	396	N/A	INTRINSIC
low complexity region	423	438	N/A	INTRINSIC
Pfam:RBD-FIP	588	635	6.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054212
AA Change: M327K

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: M327K

Domain	Start	End	E-Value	Type
C2	19	125	1.57e-13	SMART
low complexity region	173	185	N/A	INTRINSIC
low complexity region	201	227	N/A	INTRINSIC
low complexity region	260	273	N/A	INTRINSIC
low complexity region	373	396	N/A	INTRINSIC
low complexity region	423	438	N/A	INTRINSIC
low complexity region	582	600	N/A	INTRINSIC
low complexity region	695	708	N/A	INTRINSIC
low complexity region	745	757	N/A	INTRINSIC
low complexity region	882	893	N/A	INTRINSIC
low complexity region	976	983	N/A	INTRINSIC
low complexity region	992	999	N/A	INTRINSIC
Pfam:RBD-FIP	1109	1156	3.8e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209377
AA Change: M327K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210187

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous knockout results in reduced metastatic potential of pancreatic adenocarcinoma (PDAC) tumor cells in KPC (PDAC model) mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 68,947,347		probably null	Het
A2m	A	G	6: 121,676,947	N1413S	possibly damaging	Het
Arhgap45	A	T	10: 80,026,542	N488Y	probably benign	Het
Arid4a	G	A	12: 71,037,115	D94N	probably damaging	Het
Atp7a	A	G	X: 106,109,830	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,028,063	V275M	probably benign	Het
Ceacam12	T	C	7: 18,067,432	V112A	probably damaging	Het
Cep295	T	A	9: 15,318,049	D2256V	probably benign	Het
Chid1	A	T	7: 141,513,894		probably null	Het
Clcn5	A	T	X: 7,170,439	L268*	probably null	Het
Cldn17	A	G	16: 88,506,703	I46T	possibly damaging	Het
Cnot1	A	T	8: 95,728,718	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,087	V574M	probably damaging	Het
Col14a1	T	A	15: 55,455,223	C1373S	unknown	Het
Col9a1	A	G	1: 24,185,124	N129S	unknown	Het
Cp	C	T	3: 19,977,192	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,266,246	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,227,680		probably null	Het
Dnajb7	T	C	15: 81,407,491	E215G	possibly damaging	Het
Dock1	G	A	7: 135,158,510	R1634Q	possibly damaging	Het
Dopey2	A	G	16: 93,757,116	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,366,997	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003		probably null	Het
Fzd7	A	G	1: 59,483,903	E315G	probably benign	Het
Gjc1	T	A	11: 102,800,726	K150N	probably benign	Het
Gm436	C	T	4: 144,674,618	V99M	probably damaging	Het
Gpihbp1	C	T	15: 75,598,128		probably benign	Het
Gpr160	T	C	3: 30,895,853	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,672,749	R58*	probably null	Het
Ifit1	T	A	19: 34,648,454	M330K	probably benign	Het
Igkv1-122	T	C	6: 68,017,194	V22A	probably benign	Het
Ikbke	A	T	1: 131,255,311	D692E	probably benign	Het
Il15ra	T	C	2: 11,733,145		probably benign	Het
Il18rap	A	G	1: 40,537,084	I252V	probably damaging	Het
Klra10	C	T	6: 130,272,717	G202R	probably damaging	Het
Kpna7	A	G	5: 144,992,851	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,721,401	S108P	probably damaging	Het
Msto1	G	A	3: 88,910,743	T388M	probably benign	Het
Naip1	T	C	13: 100,425,933	E908G	probably damaging	Het
Neto1	C	A	18: 86,473,689	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,417,734	D294E	probably benign	Het
Nr3c2	T	C	8: 76,909,187	S306P	probably damaging	Het
Olfr890	T	A	9: 38,143,871	C240*	probably null	Het
Pard3	T	A	8: 127,324,063	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,207	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,309,358	D1077G	probably benign	Het
Pmfbp1	A	C	8: 109,513,911	L208F	probably damaging	Het
Pms1	C	T	1: 53,206,971	D470N	probably benign	Het
Prdm10	T	C	9: 31,327,282	F108L	probably benign	Het
Slc37a4	T	A	9: 44,399,964	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,347,893		probably benign	Het
Smg6	A	G	11: 75,156,291	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,376,567	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,317,453	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,879,963	D555E	probably benign	Het
Tsg101	A	G	7: 46,909,060	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,548,572	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,858,059	R682*	probably null	Het
Xkr5	A	T	8: 18,933,498	I676N	probably damaging	Het

Other mutations in Rab11fip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Rab11fip1	APN	8	27152797	missense	possibly damaging	0.56
IGL02832:Rab11fip1	APN	8	27152812	missense	possibly damaging	0.79
IGL02799:Rab11fip1	UTSW	8	27152760	missense	probably benign	0.12
R0046:Rab11fip1	UTSW	8	27153121	missense	probably damaging	0.99
R0046:Rab11fip1	UTSW	8	27153121	missense	probably damaging	0.99
R0145:Rab11fip1	UTSW	8	27143324	missense	probably damaging	1.00
R0243:Rab11fip1	UTSW	8	27152225	missense	probably damaging	1.00
R0427:Rab11fip1	UTSW	8	27154492	missense	probably damaging	0.99
R1341:Rab11fip1	UTSW	8	27143360	missense	probably damaging	0.99
R1487:Rab11fip1	UTSW	8	27154212	missense	probably damaging	0.99
R1509:Rab11fip1	UTSW	8	27153023	missense	probably damaging	1.00
R1731:Rab11fip1	UTSW	8	27152410	missense	probably damaging	0.98
R3832:Rab11fip1	UTSW	8	27152746	missense	probably benign
R4157:Rab11fip1	UTSW	8	27152147	missense	probably damaging	1.00
R4451:Rab11fip1	UTSW	8	27154477	missense	probably damaging	1.00
R4595:Rab11fip1	UTSW	8	27154575	missense	probably damaging	0.98
R4620:Rab11fip1	UTSW	8	27154215	missense	probably damaging	1.00
R4753:Rab11fip1	UTSW	8	27152741	missense	probably benign
R4834:Rab11fip1	UTSW	8	27153083	missense	probably damaging	1.00
R4958:Rab11fip1	UTSW	8	27154813	missense	probably damaging	0.99
R5102:Rab11fip1	UTSW	8	27156374	missense	probably damaging	0.99
R5558:Rab11fip1	UTSW	8	27151975	missense	probably damaging	1.00
R5752:Rab11fip1	UTSW	8	27156586	missense	probably damaging	0.99
R5859:Rab11fip1	UTSW	8	27154720	missense	probably damaging	1.00
R6525:Rab11fip1	UTSW	8	27156499	missense	probably benign	0.45
R6527:Rab11fip1	UTSW	8	27174392	missense	probably damaging	0.99
R6551:Rab11fip1	UTSW	8	27156484	missense	probably damaging	0.96
R6695:Rab11fip1	UTSW	8	27143234	missense	probably damaging	1.00
R6730:Rab11fip1	UTSW	8	27143229	missense	probably damaging	1.00
R6810:Rab11fip1	UTSW	8	27152732	frame shift	probably null
R6925:Rab11fip1	UTSW	8	27152972	missense	probably damaging	1.00
R6941:Rab11fip1	UTSW	8	27156275	nonsense	probably null
R7481:Rab11fip1	UTSW	8	27156581	missense	probably damaging	1.00
R7504:Rab11fip1	UTSW	8	27152953	missense	possibly damaging	0.78
R7610:Rab11fip1	UTSW	8	27152036	missense	probably benign	0.19
R8264:Rab11fip1	UTSW	8	27152480	nonsense	probably null
R8360:Rab11fip1	UTSW	8	27152346	nonsense	probably null

Posted On

2013-12-03