Mutagenetix > Incidental Mutation

Incidental Mutation 'R0145:Rab11fip1'

22572

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip1

Ensembl Gene

ENSMUSG00000031488

Gene Name

RAB11 family interacting protein 1 (class I)

Synonyms

2010200K21Rik, 4833414G05Rik

MMRRC Submission

038430-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0145 (G1) of strain 722

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

27628801-27664674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27633352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1118 (L1118P)

Ref Sequence

ENSEMBL: ENSMUSP00000058042 (fasta)

Gene Model

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

AlphaFold

Q9D620

Predicted Effect

probably damaging
Transcript: ENSMUST00000033878
AA Change: L597P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488
AA Change: L597P

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 damaging
Transcript: ENSMUST00000054212
AA Change: L1118P

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

SMART Domains

Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: L1118P

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

noncoding transcript
Transcript: ENSMUST00000181424

Predicted Effect

probably benign
Transcript: ENSMUST00000209377

Meta Mutation Damage Score

0.5936

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 93.7%
20x: 82.1%

Validation Efficiency

96% (109/113)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,783 (GRCm39)	E64G	probably damaging	Het
Actr6	A	T	10: 89,564,040 (GRCm39)	Y77*	probably null	Het
Aldoart1	A	T	4: 72,769,576 (GRCm39)	S411T	probably benign	Het
Aqp1	C	T	6: 55,323,672 (GRCm39)	R234C	probably damaging	Het
Arsb	G	A	13: 93,998,795 (GRCm39)	G368R	possibly damaging	Het
Asxl3	G	A	18: 22,586,662 (GRCm39)	A151T	probably damaging	Het
Bcas3	T	C	11: 85,250,436 (GRCm39)		probably benign	Het
Bmpr2	AACACA	AACA	1: 59,906,739 (GRCm39)		probably null	Het
Bst1	A	G	5: 43,976,414 (GRCm39)	Y49C	probably damaging	Het
Btrc	T	A	19: 45,411,612 (GRCm39)	L12Q	probably damaging	Het
Cd248	T	C	19: 5,119,051 (GRCm39)	F300L	possibly damaging	Het
Cdk11b	G	T	4: 155,726,076 (GRCm39)		probably benign	Het
Cfap410	T	C	10: 77,819,390 (GRCm39)	S196P	probably benign	Het
Cfap44	A	T	16: 44,288,735 (GRCm39)	D1495V	probably damaging	Het
Chil3	T	A	3: 106,067,794 (GRCm39)	I124F	probably damaging	Het
Cnot2	A	T	10: 116,353,273 (GRCm39)	S63T	possibly damaging	Het
Cox8a	G	T	19: 7,192,783 (GRCm39)	H61N	probably benign	Het
Cpne9	T	C	6: 113,277,562 (GRCm39)	V427A	probably damaging	Het
Ctsll3	C	A	13: 60,946,409 (GRCm39)	G301C	probably damaging	Het
Cubn	T	A	2: 13,311,243 (GRCm39)	D3094V	probably damaging	Het
Cyba	A	T	8: 123,153,977 (GRCm39)	M65K	possibly damaging	Het
Cyp4f39	T	A	17: 32,705,934 (GRCm39)	S342T	possibly damaging	Het
Daam2	T	C	17: 49,787,806 (GRCm39)	I436V	probably benign	Het
Daglb	T	C	5: 143,460,363 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,262,338 (GRCm39)	L2067R	probably damaging	Het
Ep300	T	C	15: 81,500,328 (GRCm39)		probably null	Het
Esm1	A	G	13: 113,353,230 (GRCm39)	N171D	probably damaging	Het
Fbxl2	T	C	9: 113,814,393 (GRCm39)	E266G	probably damaging	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Hacd3	A	T	9: 64,911,524 (GRCm39)		probably benign	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lct	T	C	1: 128,255,632 (GRCm39)	M137V	probably benign	Het
Lilrb4b	T	G	10: 51,360,614 (GRCm39)	N176K	probably benign	Het
Macf1	T	A	4: 123,281,190 (GRCm39)	H4340L	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mmrn1	C	A	6: 60,949,994 (GRCm39)	Q315K	probably damaging	Het
Mon2	C	A	10: 122,849,417 (GRCm39)	L1294F	possibly damaging	Het
Muc5ac	A	G	7: 141,349,012 (GRCm39)	T483A	possibly damaging	Het
Nacc1	T	C	8: 85,401,504 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ngef	A	G	1: 87,468,370 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Ogfod3	A	T	11: 121,085,896 (GRCm39)		probably benign	Het
Or6c8	A	T	10: 128,915,232 (GRCm39)	V200E	probably damaging	Het
Or8i2	A	C	2: 86,852,134 (GRCm39)	Y251*	probably null	Het
Parpbp	T	C	10: 87,928,871 (GRCm39)	Y523C	possibly damaging	Het
Pik3cg	C	A	12: 32,254,321 (GRCm39)	L555F	probably benign	Het
Pkp3	T	G	7: 140,669,676 (GRCm39)		probably null	Het
Pole	G	T	5: 110,472,291 (GRCm39)	R1518L	probably damaging	Het
Prkab1	T	C	5: 116,156,144 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,374,796 (GRCm39)	T1285A	probably benign	Het
Pus1	C	A	5: 110,922,720 (GRCm39)	V222L	probably benign	Het
Ranbp2	T	A	10: 58,315,868 (GRCm39)	I2196N	probably damaging	Het
Rims3	T	C	4: 120,744,223 (GRCm39)	L151P	probably damaging	Het
Rnf130	A	G	11: 49,962,046 (GRCm39)	D164G	possibly damaging	Het
Rps6ka2	C	A	17: 7,529,585 (GRCm39)	L293I	probably benign	Het
Ruvbl1	A	G	6: 88,461,441 (GRCm39)	T269A	possibly damaging	Het
Sema4a	A	T	3: 88,358,729 (GRCm39)	I10N	probably damaging	Het
Serpinb6e	A	T	13: 34,025,043 (GRCm39)	S83T	probably benign	Het
Slc12a9	C	A	5: 137,313,550 (GRCm39)	W803L	probably damaging	Het
Slc3a2	A	G	19: 8,685,437 (GRCm39)	S188P	probably damaging	Het
Slc7a13	G	A	4: 19,818,782 (GRCm39)		probably benign	Het
Spart	A	T	3: 55,035,092 (GRCm39)	K493*	probably null	Het
Spata31e2	A	G	1: 26,726,413 (GRCm39)	M32T	probably benign	Het
Sun1	T	C	5: 139,227,166 (GRCm39)	V574A	probably damaging	Het
Supt6	A	G	11: 78,099,062 (GRCm39)	V1603A	probably benign	Het
Tgm5	A	G	2: 120,908,062 (GRCm39)	V38A	possibly damaging	Het
Tm6sf2	T	C	8: 70,530,518 (GRCm39)		probably benign	Het
Tnfaip2	T	A	12: 111,412,292 (GRCm39)	V231E	possibly damaging	Het
Tube1	T	A	10: 39,021,598 (GRCm39)	M281K	possibly damaging	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Tyrp1	A	G	4: 80,759,015 (GRCm39)	Y296C	probably damaging	Het
Utp4	A	G	8: 107,621,301 (GRCm39)	N26S	probably benign	Het
Vgf	T	A	5: 137,060,336 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,058,948 (GRCm39)	K196E	possibly damaging	Het
Zfp366	G	T	13: 99,366,048 (GRCm39)	S403I	probably damaging	Het
Zfp462	G	A	4: 55,010,529 (GRCm39)	G832R	probably damaging	Het
Zfp955a	T	A	17: 33,461,430 (GRCm39)	Q234L	probably damaging	Het
Zup1	T	C	10: 33,819,709 (GRCm39)	T202A	probably damaging	Het

Other mutations in Rab11fip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Rab11fip1	APN	8	27,644,804 (GRCm39)	missense	possibly damaging	0.71
IGL01976:Rab11fip1	APN	8	27,642,825 (GRCm39)	missense	possibly damaging	0.56
IGL02832:Rab11fip1	APN	8	27,642,840 (GRCm39)	missense	possibly damaging	0.79
IGL02799:Rab11fip1	UTSW	8	27,642,788 (GRCm39)	missense	probably benign	0.12
R0046:Rab11fip1	UTSW	8	27,643,149 (GRCm39)	missense	probably damaging	0.99
R0046:Rab11fip1	UTSW	8	27,643,149 (GRCm39)	missense	probably damaging	0.99
R0243:Rab11fip1	UTSW	8	27,642,253 (GRCm39)	missense	probably damaging	1.00
R0427:Rab11fip1	UTSW	8	27,644,520 (GRCm39)	missense	probably damaging	0.99
R1341:Rab11fip1	UTSW	8	27,633,388 (GRCm39)	missense	probably damaging	0.99
R1487:Rab11fip1	UTSW	8	27,644,240 (GRCm39)	missense	probably damaging	0.99
R1509:Rab11fip1	UTSW	8	27,643,051 (GRCm39)	missense	probably damaging	1.00
R1731:Rab11fip1	UTSW	8	27,642,438 (GRCm39)	missense	probably damaging	0.98
R3832:Rab11fip1	UTSW	8	27,642,774 (GRCm39)	missense	probably benign
R4157:Rab11fip1	UTSW	8	27,642,175 (GRCm39)	missense	probably damaging	1.00
R4451:Rab11fip1	UTSW	8	27,644,505 (GRCm39)	missense	probably damaging	1.00
R4595:Rab11fip1	UTSW	8	27,644,603 (GRCm39)	missense	probably damaging	0.98
R4620:Rab11fip1	UTSW	8	27,644,243 (GRCm39)	missense	probably damaging	1.00
R4753:Rab11fip1	UTSW	8	27,642,769 (GRCm39)	missense	probably benign
R4834:Rab11fip1	UTSW	8	27,643,111 (GRCm39)	missense	probably damaging	1.00
R4958:Rab11fip1	UTSW	8	27,644,841 (GRCm39)	missense	probably damaging	0.99
R5102:Rab11fip1	UTSW	8	27,646,402 (GRCm39)	missense	probably damaging	0.99
R5558:Rab11fip1	UTSW	8	27,642,003 (GRCm39)	missense	probably damaging	1.00
R5752:Rab11fip1	UTSW	8	27,646,614 (GRCm39)	missense	probably damaging	0.99
R5859:Rab11fip1	UTSW	8	27,644,748 (GRCm39)	missense	probably damaging	1.00
R6525:Rab11fip1	UTSW	8	27,646,527 (GRCm39)	missense	probably benign	0.45
R6527:Rab11fip1	UTSW	8	27,664,420 (GRCm39)	missense	probably damaging	0.99
R6551:Rab11fip1	UTSW	8	27,646,512 (GRCm39)	missense	probably damaging	0.96
R6695:Rab11fip1	UTSW	8	27,633,262 (GRCm39)	missense	probably damaging	1.00
R6730:Rab11fip1	UTSW	8	27,633,257 (GRCm39)	missense	probably damaging	1.00
R6810:Rab11fip1	UTSW	8	27,642,760 (GRCm39)	frame shift	probably null
R6925:Rab11fip1	UTSW	8	27,643,000 (GRCm39)	missense	probably damaging	1.00
R6941:Rab11fip1	UTSW	8	27,646,303 (GRCm39)	nonsense	probably null
R7481:Rab11fip1	UTSW	8	27,646,609 (GRCm39)	missense	probably damaging	1.00
R7504:Rab11fip1	UTSW	8	27,642,981 (GRCm39)	missense	possibly damaging	0.78
R7610:Rab11fip1	UTSW	8	27,642,064 (GRCm39)	missense	probably benign	0.19
R8264:Rab11fip1	UTSW	8	27,642,508 (GRCm39)	nonsense	probably null
R8360:Rab11fip1	UTSW	8	27,642,374 (GRCm39)	nonsense	probably null
R8958:Rab11fip1	UTSW	8	27,644,940 (GRCm39)	missense	possibly damaging	0.91
R9025:Rab11fip1	UTSW	8	27,644,736 (GRCm39)	missense	probably benign	0.00
R9093:Rab11fip1	UTSW	8	27,633,355 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTGTGCTAGTTACTAGGGAGACCAC -3'
(R):5'- ACCAGAGGTGTGAGAACTGTAAGCC -3'

Sequencing Primer
(F):5'- TTACTAGGGAGACCACGCCTC -3'
(R):5'- tcttctgctattgagctgcc -3'

Posted On

2013-04-16