Mutagenetix > Incidental Mutation

Incidental Mutation 'R1509:Rab11fip1'

168143

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip1

Ensembl Gene

ENSMUSG00000031488

Gene Name

RAB11 family interacting protein 1 (class I)

Synonyms

4833414G05Rik, 2010200K21Rik

MMRRC Submission

039556-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R1509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27138773-27174646 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27153023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 583 (S583T)

Ref Sequence

ENSEMBL: ENSMUSP00000147543 (fasta)

Gene Model

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

AlphaFold

Q9D620

Predicted Effect

probably benign
Transcript: ENSMUST00000033878

SMART Domains

Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488

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

possibly damaging
Transcript: ENSMUST00000054212
AA Change: S583T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: S583T

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

probably damaging
Transcript: ENSMUST00000209377
AA Change: S583T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210187

Meta Mutation Damage Score

0.0645

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,192,647	S132P	probably benign	Het
4930430A15Rik	A	T	2: 111,218,627	M269K	probably benign	Het
AC153895.1	T	C	6: 50,043,471	R54G	unknown	Het
Acot12	G	A	13: 91,771,875		probably null	Het
Adhfe1	T	A	1: 9,553,446	D98E	probably benign	Het
Ago2	A	G	15: 73,116,364	F594S	probably damaging	Het
Aldh18a1	A	G	19: 40,557,483	I620T	probably damaging	Het
Aspscr1	C	A	11: 120,701,516	A294D	probably damaging	Het
BC067074	A	G	13: 113,368,256	N431S	probably damaging	Het
Bod1l	C	G	5: 41,819,540	R1477T	probably damaging	Het
Ccdc18	C	A	5: 108,188,978	A741D	possibly damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap52	C	T	11: 67,938,993	V317I	probably benign	Het
Cgn	A	T	3: 94,774,258	L509Q	probably benign	Het
Crb2	A	G	2: 37,786,619	H204R	probably benign	Het
Ddx39	G	A	8: 83,719,898	V99M	probably damaging	Het
Dis3l2	T	A	1: 87,021,086	C582S	possibly damaging	Het
Dmbt1	G	A	7: 131,074,331		probably benign	Het
Dnah6	T	C	6: 73,027,442	E3846G	probably damaging	Het
Dstyk	A	G	1: 132,456,346	E655G	probably damaging	Het
Epha4	T	C	1: 77,380,886	Y825C	probably damaging	Het
Esp36	T	A	17: 38,417,282	N36I	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fem1c	A	G	18: 46,524,213	S145P	probably benign	Het
Galnt13	T	C	2: 54,733,082	I80T	probably damaging	Het
Gm10125	A	G	18: 5,583,794		noncoding transcript	Het
Gm5698	T	C	1: 30,977,647	T108A	probably benign	Het
Hipk3	A	G	2: 104,441,262	S442P	probably benign	Het
Hmcn2	T	A	2: 31,314,479	V22D	possibly damaging	Het
Hspg2	C	T	4: 137,511,241		probably benign	Het
Ide	A	G	19: 37,285,204		probably null	Het
Ifnar1	C	A	16: 91,503,496	P462Q	probably damaging	Het
Itgb2l	T	A	16: 96,426,849	I485F	probably benign	Het
Jakmip3	C	T	7: 139,027,776	R549W	possibly damaging	Het
Lrrc36	A	G	8: 105,461,129	Q680R	probably damaging	Het
Lysmd3	T	G	13: 81,669,271	H122Q	probably benign	Het
Macf1	C	A	4: 123,684,009	V61L	possibly damaging	Het
Map1b	T	C	13: 99,431,528	T1562A	unknown	Het
Map3k20	A	T	2: 72,364,624		probably benign	Het
Mroh8	A	G	2: 157,233,205	V457A	probably benign	Het
Mrpl40	T	A	16: 18,875,409		probably null	Het
Ms4a10	C	T	19: 10,964,108	V166I	probably benign	Het
Mycl	A	G	4: 123,000,307	D300G	probably damaging	Het
Naca	T	A	10: 128,043,397		probably benign	Het
Ncoa4	T	C	14: 32,173,434	S172P	probably damaging	Het
Nfatc3	T	C	8: 106,083,854	F421L	possibly damaging	Het
Nucb1	C	A	7: 45,495,225	K301N	probably benign	Het
Olfr1451	T	A	19: 12,999,451	I155N	possibly damaging	Het
Olfr366	A	G	2: 37,219,954	H155R	probably damaging	Het
Olfr629	A	T	7: 103,741,036	M68K	probably benign	Het
Panx1	A	T	9: 15,010,045	V178E	possibly damaging	Het
Pkd1l3	G	A	8: 109,640,770	V1210I	probably damaging	Het
Polr2a	A	T	11: 69,747,213	H143Q	possibly damaging	Het
Prdm12	G	A	2: 31,654,174	R263H	probably damaging	Het
Prkdc	A	C	16: 15,731,566	K1998T	probably damaging	Het
Rnf157	T	A	11: 116,347,095	T567S	probably benign	Het
Rp1	T	C	1: 4,347,694	K1065R	probably damaging	Het
Rp1	A	G	1: 4,348,537	I784T	probably benign	Het
Rps10	A	C	17: 27,631,208	F150V	probably benign	Het
Rrp12	A	T	19: 41,882,200	F499I	probably damaging	Het
Sez6l2	G	A	7: 126,963,363	R604H	probably damaging	Het
Slc25a21	G	T	12: 56,858,079	Q57K	probably benign	Het
Slc27a2	A	G	2: 126,553,314	T54A	possibly damaging	Het
Slc9a9	T	A	9: 95,228,958	S610T	probably benign	Het
Smc1b	A	T	15: 85,086,134	S973T	probably benign	Het
Smc6	G	A	12: 11,279,733	S164N	possibly damaging	Het
Sp1	A	G	15: 102,407,879	T32A	possibly damaging	Het
Spen	T	C	4: 141,475,635	I1894V	probably benign	Het
Spen	T	C	4: 141,475,700	K1872R	possibly damaging	Het
Stab1	C	A	14: 31,151,584		probably benign	Het
Taar7d	T	G	10: 24,028,204	F328C	probably damaging	Het
Ticam1	A	T	17: 56,271,113	S327R	probably benign	Het
Tmem248	C	T	5: 130,229,454		probably benign	Het
Tom1	T	C	8: 75,054,631	S83P	probably damaging	Het
Txk	T	A	5: 72,699,110	Y446F	probably damaging	Het
Ubap1l	T	A	9: 65,371,955	C179S	probably benign	Het
Utrn	T	C	10: 12,455,441	E474G	possibly damaging	Het
Vmn2r14	T	C	5: 109,215,996	M685V	probably benign	Het
Vmn2r7	A	T	3: 64,716,460	Y146*	probably null	Het
Wdr1	G	A	5: 38,540,562	T220M	probably damaging	Het
Xpo7	T	C	14: 70,678,142	D726G	probably damaging	Het
Zbtb14	C	G	17: 69,387,764	I152M	probably benign	Het
Zbtb3	A	G	19: 8,803,407	D128G	probably damaging	Het
Zfp462	T	A	4: 55,007,667	D35E	probably damaging	Het
Zfp467	A	G	6: 48,438,687	S344P	possibly damaging	Het
Zfpm1	A	T	8: 122,307,546	D73V	possibly damaging	Het

Other mutations in Rab11fip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Rab11fip1	APN	8	27154776	missense	possibly damaging	0.71
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
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
R8958:Rab11fip1	UTSW	8	27154912	missense	possibly damaging	0.91
R9025:Rab11fip1	UTSW	8	27154708	missense	probably benign	0.00
R9093:Rab11fip1	UTSW	8	27143327	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCGCCATCGTGAACATTATCCACAG -3'
(R):5'- TGAAATGCATCTGCCACTGACCTG -3'

Sequencing Primer
(F):5'- GAAGTTGTTCACAAGGTGATCCC -3'
(R):5'- GCAGACTGGAAGTTTCTCCAGA -3'

Posted On

2014-04-13