Mutagenetix > Incidental Mutation

Incidental Mutation 'R6086:Rab11fip4'

482496

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip4

Ensembl Gene

ENSMUSG00000017639

Gene Name

RAB11 family interacting protein 4 (class II)

Synonyms

RAB11-FIP4, A730072L08Rik

MMRRC Submission

044427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79482038-79588849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79574306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 132 (D132N)

Ref Sequence

ENSEMBL: ENSMUSP00000114971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017783] [ENSMUST00000155381]

AlphaFold

Q8BQP8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017783
AA Change: D234N

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000017783
Gene: ENSMUSG00000017639
AA Change: D234N

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
SCOP:d1mr8a_	17	90	2e-4	SMART
Blast:EFh	54	81	2e-10	BLAST
low complexity region	247	252	N/A	INTRINSIC
low complexity region	388	405	N/A	INTRINSIC
Blast:BRLZ	507	574	7e-24	BLAST
Pfam:RBD-FIP	594	634	1.4e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155381
AA Change: D132N

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	G	T	12: 8,065,164 (GRCm39)	K4044N	probably benign	Het
Asic4	G	A	1: 75,449,887 (GRCm39)	V468I	possibly damaging	Het
Atf4	T	A	15: 80,141,654 (GRCm39)	V348D	probably benign	Het
Bcl9	A	G	3: 97,112,840 (GRCm39)	V1205A	possibly damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,789,188 (GRCm39)	P131Q	probably damaging	Het
Cdyl2	A	G	8: 117,316,035 (GRCm39)	S318P	probably damaging	Het
Ces1a	T	G	8: 93,753,981 (GRCm39)	N341H	probably benign	Het
Cimap2	T	C	4: 106,470,403 (GRCm39)	E218G	probably damaging	Het
Crlf3	C	T	11: 79,939,436 (GRCm39)	V352M	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyren	A	G	6: 34,851,555 (GRCm39)	S127P	probably damaging	Het
Dnah2	T	C	11: 69,406,834 (GRCm39)	T529A	probably benign	Het
Dnah9	C	T	11: 65,880,741 (GRCm39)	D2619N	probably damaging	Het
Dnah9	A	C	11: 65,976,000 (GRCm39)	S1350A	probably benign	Het
Dnajc6	C	T	4: 101,455,004 (GRCm39)	S65L	probably benign	Het
Dnm3	C	A	1: 162,148,602 (GRCm39)	R256S	probably damaging	Het
Enpp2	T	C	15: 54,709,230 (GRCm39)	D795G	probably damaging	Het
Fah	A	T	7: 84,238,120 (GRCm39)	W367R	probably damaging	Het
Fam220a	T	A	5: 143,548,796 (GRCm39)	H69Q	probably benign	Het
Fgd3	T	A	13: 49,440,772 (GRCm39)	T220S	probably benign	Het
Furin	G	T	7: 80,045,179 (GRCm39)	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,911,396 (GRCm39)	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm9742	T	C	13: 8,080,069 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	G	2: 132,380,034 (GRCm39)	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,184,340 (GRCm39)	G398S	probably null	Het
Hspa1l	T	C	17: 35,197,131 (GRCm39)	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,858,598 (GRCm39)	S94G	probably benign	Het
Klf10	G	T	15: 38,297,181 (GRCm39)	S271R	probably benign	Het
Klk1b3	T	A	7: 43,851,158 (GRCm39)	L197Q	probably damaging	Het
Knl1	A	G	2: 118,924,549 (GRCm39)	R1861G	probably damaging	Het
Myo9a	C	T	9: 59,697,340 (GRCm39)	Q374*	probably null	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncapg	T	C	5: 45,850,578 (GRCm39)	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,698,362 (GRCm39)	F228V	probably benign	Het
Ntaq1	C	A	15: 58,014,024 (GRCm39)	A71E	probably damaging	Het
Oc90	A	G	15: 65,761,560 (GRCm39)	S153P	probably damaging	Het
Or4c123	A	G	2: 89,127,198 (GRCm39)	C139R	probably damaging	Het
Or5b105	A	G	19: 13,079,745 (GRCm39)	*308Q	probably null	Het
Pbk	A	T	14: 66,052,702 (GRCm39)	K182*	probably null	Het
Piezo1	A	G	8: 123,228,396 (GRCm39)	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,781,244 (GRCm39)	Y288F	probably damaging	Het
Recql4	T	C	15: 76,588,787 (GRCm39)	D1051G	probably damaging	Het
Reep5	A	C	18: 34,490,184 (GRCm39)	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,845,403 (GRCm39)	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sema3b	T	C	9: 107,478,047 (GRCm39)	D446G	probably damaging	Het
Sema4d	C	T	13: 51,867,781 (GRCm39)	R190Q	probably damaging	Het
Slco3a1	G	A	7: 73,968,338 (GRCm39)	R461C	possibly damaging	Het
Spmap2l	T	A	5: 77,209,152 (GRCm39)	V458E	probably benign	Het
Tenm2	T	A	11: 35,899,473 (GRCm39)	I2562F	possibly damaging	Het
Tmem40	G	T	6: 115,710,628 (GRCm39)	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,407,405 (GRCm39)	H351R	probably benign	Het
Tnn	C	T	1: 159,913,690 (GRCm39)	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,188,506 (GRCm39)	D132V	probably damaging	Het
Trgc3	T	C	13: 19,447,454 (GRCm39)	S136P	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Tsen2	A	G	6: 115,537,036 (GRCm39)	E264G	probably benign	Het
Urah	A	G	7: 140,416,711 (GRCm39)	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,016,519 (GRCm39)	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,168,958 (GRCm39)	T724R	probably damaging	Het
Washc2	A	G	6: 116,233,177 (GRCm39)		probably null	Het
Zfp955b	T	A	17: 33,521,478 (GRCm39)	W316R	probably benign	Het
Zranb2	T	C	3: 157,248,883 (GRCm39)		probably null	Het

Other mutations in Rab11fip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Rab11fip4	APN	11	79,582,705 (GRCm39)	missense	possibly damaging	0.70
IGL01867:Rab11fip4	APN	11	79,574,216 (GRCm39)	missense	probably benign	0.04
R0013:Rab11fip4	UTSW	11	79,580,479 (GRCm39)	missense	probably benign	0.27
R0277:Rab11fip4	UTSW	11	79,577,455 (GRCm39)	missense	possibly damaging	0.82
R0737:Rab11fip4	UTSW	11	79,574,328 (GRCm39)	missense	probably benign
R4975:Rab11fip4	UTSW	11	79,510,497 (GRCm39)	missense	probably damaging	1.00
R5382:Rab11fip4	UTSW	11	79,581,541 (GRCm39)	missense	possibly damaging	0.94
R5982:Rab11fip4	UTSW	11	79,581,601 (GRCm39)	missense	probably benign
R6267:Rab11fip4	UTSW	11	79,581,655 (GRCm39)	critical splice donor site	probably null
R6296:Rab11fip4	UTSW	11	79,581,655 (GRCm39)	critical splice donor site	probably null
R7468:Rab11fip4	UTSW	11	79,580,478 (GRCm39)	missense	probably benign	0.02
R8156:Rab11fip4	UTSW	11	79,577,415 (GRCm39)	missense	probably benign	0.00
R8307:Rab11fip4	UTSW	11	79,581,600 (GRCm39)	missense	possibly damaging	0.60
R9698:Rab11fip4	UTSW	11	79,583,592 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCTCCTGTGATCTGTTG -3'
(R):5'- CAGATGTAAGACGGTGGCAC -3'

Posted On

2017-07-14