Mutagenetix > Incidental Mutation

Incidental Mutation 'R6941:Rab11fip1'

540545

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip1

Ensembl Gene

ENSMUSG00000031488

Gene Name

RAB11 family interacting protein 1 (class I)

Synonyms

2010200K21Rik, 4833414G05Rik

MMRRC Submission

045055-MU

Accession Numbers

Essential gene?

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

Stock #

R6941 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27628801-27664674 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 27646303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 258 (Q258*)

Ref Sequence

ENSEMBL: ENSMUSP00000147543 (fasta)

Gene Model

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

AlphaFold

Q9D620

Predicted Effect

probably null
Transcript: ENSMUST00000033878
AA Change: Q258*

SMART Domains

Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488
AA Change: Q258*

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 null
Transcript: ENSMUST00000054212
AA Change: Q258*

SMART Domains

Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: Q258*

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 null
Transcript: ENSMUST00000209377
AA Change: Q258*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,140,370 (GRCm39)	I1557F	probably damaging	Het
Acad10	A	T	5: 121,787,420 (GRCm39)	D176E	probably damaging	Het
Acta2	A	T	19: 34,229,922 (GRCm39)	V11E	probably damaging	Het
Ampd2	T	C	3: 107,986,609 (GRCm39)	H225R	probably damaging	Het
Arfgef3	A	G	10: 18,501,203 (GRCm39)	Y1016H	possibly damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU018091	A	G	7: 3,209,267 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,819,469 (GRCm39)	V481A	probably benign	Het
Cabp1	A	T	5: 115,310,960 (GRCm39)	D295E	probably damaging	Het
Cd180	A	T	13: 102,842,699 (GRCm39)	T582S	probably benign	Het
Cnksr3	A	G	10: 7,076,758 (GRCm39)	S145P	probably damaging	Het
Ddx27	A	G	2: 166,857,297 (GRCm39)	D15G	possibly damaging	Het
Dsc1	T	C	18: 20,230,246 (GRCm39)	Y353C	probably benign	Het
Dsg1c	C	T	18: 20,400,980 (GRCm39)	T161I	probably damaging	Het
Epm2a	A	G	10: 11,266,829 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,152,914 (GRCm39)	H3766R	probably benign	Het
Fjx1	A	G	2: 102,280,903 (GRCm39)	V344A	probably benign	Het
Frmd3	A	G	4: 74,016,363 (GRCm39)	I93V	probably benign	Het
Gbe1	TAGTAAGAGT	TAGT	16: 70,230,444 (GRCm39)		probably benign	Het
Gdf15	A	G	8: 71,082,794 (GRCm39)	L104P	possibly damaging	Het
Glra3	G	A	8: 56,393,961 (GRCm39)	R24Q	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ipmk	G	A	10: 71,183,920 (GRCm39)	G47S	probably null	Het
Itsn2	T	C	12: 4,679,641 (GRCm39)	I150T	probably benign	Het
Kcnq5	T	C	1: 21,476,068 (GRCm39)	Y545C	probably damaging	Het
Klk1b8	C	A	7: 43,602,213 (GRCm39)	H48Q	possibly damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc34	T	C	3: 30,678,969 (GRCm39)	Y376C	probably benign	Het
Mast4	A	T	13: 102,941,222 (GRCm39)	D278E	probably damaging	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Ndst4	T	G	3: 125,403,160 (GRCm39)	H422Q	possibly damaging	Het
Nek7	T	C	1: 138,430,376 (GRCm39)	E206G	probably damaging	Het
Nufip2	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 77,577,122 (GRCm39)		probably benign	Het
Or5b99	T	A	19: 12,976,861 (GRCm39)	N170K	possibly damaging	Het
Pglyrp2	T	C	17: 32,635,048 (GRCm39)	Y438C	probably damaging	Het
Pigr	G	T	1: 130,775,064 (GRCm39)	W497L	probably damaging	Het
Pkd2l2	G	T	18: 34,549,936 (GRCm39)	V194L	probably benign	Het
Ppp1r16b	A	T	2: 158,538,068 (GRCm39)	K5M	probably damaging	Het
Psat1	A	T	19: 15,898,307 (GRCm39)	S35R	probably damaging	Het
Qrfprl	G	A	6: 65,424,385 (GRCm39)	M126I	probably damaging	Het
Rad51d	A	G	11: 82,780,623 (GRCm39)	L53P	probably damaging	Het
Rell2	G	A	18: 38,091,341 (GRCm39)	A169T	probably benign	Het
Rnf19b	T	C	4: 128,976,572 (GRCm39)	I545T	probably benign	Het
Slc12a1	G	T	2: 125,055,999 (GRCm39)	E843D	possibly damaging	Het
Slc1a4	A	G	11: 20,254,346 (GRCm39)	S507P	probably damaging	Het
Slc6a1	G	A	6: 114,290,473 (GRCm39)	W316*	probably null	Het
Spesp1	A	G	9: 62,180,152 (GRCm39)	L252P	probably damaging	Het
Sphkap	G	A	1: 83,385,811 (GRCm39)		probably benign	Het
Srcap	A	G	7: 127,141,769 (GRCm39)	T1850A	probably damaging	Het
Supv3l1	T	C	10: 62,266,365 (GRCm39)	T604A	possibly damaging	Het
Tacr1	A	G	6: 82,380,846 (GRCm39)	T86A	possibly damaging	Het
Tenm3	T	C	8: 49,127,451 (GRCm39)	R76G	probably damaging	Het
Tmprss6	C	A	15: 78,330,977 (GRCm39)	A419S	probably damaging	Het
Usp54	T	G	14: 20,612,177 (GRCm39)	I880L	probably benign	Het
Wwp2	T	A	8: 108,275,134 (GRCm39)	V377D	probably damaging	Het
Zfp735	A	T	11: 73,581,159 (GRCm39)	E65D	probably benign	Het
Zfy2	T	C	Y: 2,121,491 (GRCm39)	E134G	probably benign	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
R0145:Rab11fip1	UTSW	8	27,633,352 (GRCm39)	missense	probably damaging	1.00
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
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'- CTCAAACGCGCTGATTCTGC -3'
(R):5'- CTCAGTCGACAGTGACGATGAG -3'

Sequencing Primer
(F):5'- CAAGCCCTTGGAGATTCGTAAG -3'
(R):5'- ACGATGAGTCCTTCTCGAAAG -3'

Posted On

2018-11-06