Mutagenetix > Incidental Mutation

Incidental Mutation 'R7836:Rab11fip3'

606009

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip3

Ensembl Gene

ENSMUSG00000037098

Gene Name

RAB11 family interacting protein 3 (class II)

Synonyms

D030060O14Rik, Rab11-FIP3

MMRRC Submission

045890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26208010-26288529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26287232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 307 (E307G)

Ref Sequence

ENSEMBL: ENSMUSP00000113521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120691] [ENSMUST00000122103]

AlphaFold

Q8CHD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120691
AA Change: E307G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098
AA Change: E307G

Domain	Start	End	E-Value	Type
internal_repeat_1	29	130	3.12e-31	PROSPERO
internal_repeat_1	144	294	3.12e-31	PROSPERO
EFh	500	528	3.03e-1	SMART
EFh	532	560	3.86e1	SMART
low complexity region	739	751	N/A	INTRINSIC
low complexity region	916	936	N/A	INTRINSIC
Blast:BRLZ	938	988	2e-11	BLAST
Pfam:RBD-FIP	1007	1047	4.7e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122103
AA Change: E307G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098
AA Change: E307G

Domain	Start	End	E-Value	Type
internal_repeat_1	29	130	2.03e-32	PROSPERO
internal_repeat_1	144	294	2.03e-32	PROSPERO
EFh	500	528	3.03e-1	SMART
EFh	532	560	3.86e1	SMART
low complexity region	784	796	N/A	INTRINSIC
low complexity region	961	981	N/A	INTRINSIC
Blast:BRLZ	983	1033	2e-11	BLAST
Pfam:RBD-FIP	1052	1092	4.9e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,984,203 (GRCm39)	S644R	probably benign	Het
Adra2a	A	G	19: 54,034,659 (GRCm39)	E5G	probably benign	Het
Ankrd1	A	T	19: 36,092,922 (GRCm39)	V201D	possibly damaging	Het
Ano9	A	T	7: 140,683,114 (GRCm39)	V598E	probably damaging	Het
Apob	T	A	12: 8,051,885 (GRCm39)	M1150K	possibly damaging	Het
BC005624	A	T	2: 30,864,032 (GRCm39)	I187N	probably damaging	Het
Bltp3b	C	T	10: 89,651,968 (GRCm39)	T1381I	probably benign	Het
Ccl9	T	C	11: 83,467,257 (GRCm39)	E31G	probably benign	Het
Cnnm4	T	A	1: 36,511,019 (GRCm39)	D82E	probably benign	Het
Coq10b	T	C	1: 55,092,013 (GRCm39)		probably benign	Het
Cplane1	T	G	15: 8,233,241 (GRCm39)	F1189V	probably damaging	Het
Cyb561	T	C	11: 105,830,935 (GRCm39)	N50S	probably benign	Het
Dctn4	G	T	18: 60,679,348 (GRCm39)	A223S	probably benign	Het
Dysf	A	G	6: 84,114,380 (GRCm39)	Y1223C	probably damaging	Het
Eed	C	T	7: 89,630,022 (GRCm39)		probably benign	Het
Eef1g	T	A	19: 8,954,738 (GRCm39)	V305E	probably benign	Het
Eif4ebp2	C	A	10: 61,270,772 (GRCm39)	A86S	probably benign	Het
Ermp1	T	C	19: 29,609,788 (GRCm39)		probably null	Het
Hid1	T	C	11: 115,249,821 (GRCm39)	Y198C	probably damaging	Het
Hoxd1	C	A	2: 74,593,816 (GRCm39)	A124E	probably benign	Het
Hyal5	G	A	6: 24,891,347 (GRCm39)	C387Y	probably damaging	Het
Il11	A	G	7: 4,778,999 (GRCm39)	S103P	probably damaging	Het
Lgalsl2	A	T	7: 5,362,507 (GRCm39)	K46M	probably damaging	Het
Lmtk3	A	C	7: 45,436,327 (GRCm39)	I128L	possibly damaging	Het
Lrrc4b	G	T	7: 44,094,316 (GRCm39)		probably benign	Het
Magel2	T	A	7: 62,028,116 (GRCm39)	I340N	possibly damaging	Het
Mfsd14a	A	T	3: 116,442,200 (GRCm39)	F71I	possibly damaging	Het
Mgarp	A	G	3: 51,296,487 (GRCm39)	S172P	probably benign	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Naa15	G	T	3: 51,370,688 (GRCm39)	E651*	probably null	Het
Ndfip2	T	C	14: 105,529,675 (GRCm39)	V168A	probably benign	Het
Neb	C	A	2: 52,113,373 (GRCm39)		probably null	Het
Nfil3	A	G	13: 53,121,968 (GRCm39)	V312A	possibly damaging	Het
Nrap	T	C	19: 56,338,729 (GRCm39)	I953V	probably benign	Het
Ntrk1	T	A	3: 87,687,041 (GRCm39)	K706*	probably null	Het
Nuf2	A	T	1: 169,352,898 (GRCm39)	F36I	probably benign	Het
Or51h7	T	A	7: 102,591,125 (GRCm39)	T220S	possibly damaging	Het
Or5aq7	T	C	2: 86,937,861 (GRCm39)	Y290C	probably damaging	Het
Pcdh8	T	G	14: 80,006,101 (GRCm39)	T821P	possibly damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ptch2	C	A	4: 116,962,224 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,081,719 (GRCm39)	I50V	probably benign	Het
Pth2r	G	T	1: 65,390,722 (GRCm39)	W292L	probably damaging	Het
Ptprd	G	A	4: 75,900,881 (GRCm39)	T825M	probably damaging	Het
Ptprk	T	C	10: 28,449,385 (GRCm39)	Y987H	probably damaging	Het
Qser1	T	C	2: 104,606,579 (GRCm39)	E1470G	probably damaging	Het
Rims2	A	G	15: 39,544,475 (GRCm39)	Y1484C	probably damaging	Het
Rock1	A	T	18: 10,097,651 (GRCm39)		probably null	Het
Slc15a1	T	A	14: 121,718,145 (GRCm39)	K245*	probably null	Het
Snx11	T	A	11: 96,660,032 (GRCm39)	E219V	possibly damaging	Het
Sox21	C	A	14: 118,472,729 (GRCm39)	E107*	probably null	Het
Spink5	T	A	18: 44,132,888 (GRCm39)	H501Q	probably benign	Het
Stard5	C	T	7: 83,285,984 (GRCm39)	T103M	probably damaging	Het
Stfa2l1	A	T	16: 35,977,203 (GRCm39)		probably benign	Het
Sult1c2	A	C	17: 54,271,076 (GRCm39)	V185G	probably damaging	Het
Svs5	A	G	2: 164,079,500 (GRCm39)	S136P	possibly damaging	Het
Sytl3	T	A	17: 6,982,774 (GRCm39)		probably null	Het
Tc2n	C	T	12: 101,619,112 (GRCm39)	V349I	possibly damaging	Het
Tln1	A	G	4: 43,554,309 (GRCm39)	V271A	probably benign	Het
Tmem260	T	A	14: 48,746,519 (GRCm39)	S446R	probably benign	Het
Trim30a	T	C	7: 104,084,802 (GRCm39)	D136G	probably benign	Het
Ulk4	A	T	9: 120,873,885 (GRCm39)	I1182N	possibly damaging	Het
Unc50	T	G	1: 37,476,377 (GRCm39)	I179S	possibly damaging	Het
Upb1	T	A	10: 75,248,667 (GRCm39)	Y57*	probably null	Het
Usp34	C	T	11: 23,396,614 (GRCm39)	T2349I		Het
Vmn1r71	A	G	7: 10,482,277 (GRCm39)	V137A	possibly damaging	Het
Vmn1r85	T	C	7: 12,818,698 (GRCm39)	I149V	probably benign	Het
Vmn2r118	A	G	17: 55,900,242 (GRCm39)	L554P	probably damaging	Het
Wdr4	C	G	17: 31,718,782 (GRCm39)		probably null	Het
Zbbx	A	T	3: 74,985,781 (GRCm39)	S424T	possibly damaging	Het
Zfp207	C	G	11: 80,282,726 (GRCm39)	P246A	probably damaging	Het
Zfp414	T	A	17: 33,848,962 (GRCm39)	Y65*	probably null	Het
Zfp600	T	A	4: 146,133,523 (GRCm39)	N730K	probably benign	Het
Zfp827	T	C	8: 79,912,979 (GRCm39)	L1073P	probably damaging	Het
Zfp986	A	G	4: 145,625,691 (GRCm39)	K117R	possibly damaging	Het
Zgrf1	T	A	3: 127,357,080 (GRCm39)	Y769N	probably damaging	Het
Zup1	A	T	10: 33,795,315 (GRCm39)	I547N	unknown	Het

Other mutations in Rab11fip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Rab11fip3	APN	17	26,210,783 (GRCm39)	splice site	probably benign
IGL00420:Rab11fip3	APN	17	26,286,599 (GRCm39)	missense	probably benign	0.20
IGL01291:Rab11fip3	APN	17	26,235,087 (GRCm39)	missense	probably damaging	0.99
IGL01473:Rab11fip3	APN	17	26,287,709 (GRCm39)	missense	possibly damaging	0.53
IGL01687:Rab11fip3	APN	17	26,286,956 (GRCm39)	missense	probably damaging	0.97
IGL01764:Rab11fip3	APN	17	26,287,667 (GRCm39)	missense	probably benign	0.02
IGL01977:Rab11fip3	APN	17	26,286,977 (GRCm39)	missense	possibly damaging	0.72
IGL02140:Rab11fip3	APN	17	26,286,866 (GRCm39)	missense	probably benign	0.33
IGL02434:Rab11fip3	APN	17	26,287,809 (GRCm39)	missense	possibly damaging	0.85
IGL02549:Rab11fip3	APN	17	26,213,294 (GRCm39)	missense	probably damaging	0.96
IGL02889:Rab11fip3	APN	17	26,286,653 (GRCm39)	missense	possibly damaging	0.84
IGL02953:Rab11fip3	APN	17	26,286,653 (GRCm39)	missense	possibly damaging	0.84
ANU05:Rab11fip3	UTSW	17	26,235,087 (GRCm39)	missense	probably damaging	0.99
R0193:Rab11fip3	UTSW	17	26,209,973 (GRCm39)	missense	probably damaging	0.99
R0388:Rab11fip3	UTSW	17	26,288,046 (GRCm39)	missense	probably benign	0.33
R0543:Rab11fip3	UTSW	17	26,213,199 (GRCm39)	missense	probably damaging	1.00
R0678:Rab11fip3	UTSW	17	26,287,821 (GRCm39)	missense	probably benign	0.00
R1283:Rab11fip3	UTSW	17	26,223,528 (GRCm39)	missense	probably damaging	1.00
R1473:Rab11fip3	UTSW	17	26,210,296 (GRCm39)	missense	probably damaging	1.00
R1625:Rab11fip3	UTSW	17	26,287,865 (GRCm39)	missense	possibly damaging	0.72
R1973:Rab11fip3	UTSW	17	26,243,365 (GRCm39)	missense	probably damaging	0.97
R2160:Rab11fip3	UTSW	17	26,288,028 (GRCm39)	missense	probably benign	0.33
R2197:Rab11fip3	UTSW	17	26,287,152 (GRCm39)	missense	probably benign
R2382:Rab11fip3	UTSW	17	26,209,841 (GRCm39)	nonsense	probably null
R3028:Rab11fip3	UTSW	17	26,234,916 (GRCm39)	critical splice donor site	probably null
R3797:Rab11fip3	UTSW	17	26,287,500 (GRCm39)	missense	possibly damaging	0.73
R4012:Rab11fip3	UTSW	17	26,287,002 (GRCm39)	frame shift	probably null
R4064:Rab11fip3	UTSW	17	26,243,368 (GRCm39)	missense	probably damaging	0.97
R4478:Rab11fip3	UTSW	17	26,235,057 (GRCm39)	missense	probably damaging	1.00
R4527:Rab11fip3	UTSW	17	26,255,631 (GRCm39)	missense	probably damaging	1.00
R4565:Rab11fip3	UTSW	17	26,287,680 (GRCm39)	missense	possibly damaging	0.73
R5048:Rab11fip3	UTSW	17	26,286,554 (GRCm39)	critical splice donor site	probably null
R5138:Rab11fip3	UTSW	17	26,210,000 (GRCm39)	missense	probably benign	0.32
R5317:Rab11fip3	UTSW	17	26,287,052 (GRCm39)	missense	possibly damaging	0.72
R5453:Rab11fip3	UTSW	17	26,211,555 (GRCm39)	critical splice donor site	probably null
R5495:Rab11fip3	UTSW	17	26,235,117 (GRCm39)	missense	probably damaging	0.99
R5525:Rab11fip3	UTSW	17	26,210,269 (GRCm39)	missense	probably damaging	1.00
R5654:Rab11fip3	UTSW	17	26,235,038 (GRCm39)	missense	probably damaging	1.00
R5716:Rab11fip3	UTSW	17	26,255,638 (GRCm39)	missense	probably damaging	1.00
R5818:Rab11fip3	UTSW	17	26,235,090 (GRCm39)	missense	probably damaging	1.00
R6044:Rab11fip3	UTSW	17	26,286,843 (GRCm39)	missense	possibly damaging	0.93
R6716:Rab11fip3	UTSW	17	26,210,031 (GRCm39)	missense	probably damaging	1.00
R6785:Rab11fip3	UTSW	17	26,210,692 (GRCm39)	missense	probably damaging	0.99
R7161:Rab11fip3	UTSW	17	26,288,064 (GRCm39)	missense	probably benign	0.09
R7390:Rab11fip3	UTSW	17	26,287,126 (GRCm39)	missense	possibly damaging	0.81
R7447:Rab11fip3	UTSW	17	26,287,848 (GRCm39)	missense	possibly damaging	0.66
R7981:Rab11fip3	UTSW	17	26,216,963 (GRCm39)	missense	probably damaging	0.98
R8008:Rab11fip3	UTSW	17	26,286,956 (GRCm39)	missense	probably damaging	0.97
R8887:Rab11fip3	UTSW	17	26,286,927 (GRCm39)	missense	possibly damaging	0.83
R8962:Rab11fip3	UTSW	17	26,231,007 (GRCm39)	missense	probably damaging	1.00
R9250:Rab11fip3	UTSW	17	26,237,219 (GRCm39)	missense	unknown
R9329:Rab11fip3	UTSW	17	26,231,032 (GRCm39)	missense	probably benign	0.15
R9506:Rab11fip3	UTSW	17	26,213,250 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCATTGGCCCAGAAACACGG -3'
(R):5'- ACTTAGCCAAAGAGCTGGAG -3'

Sequencing Primer
(F):5'- CCCAGAAACACGGTGGGTTG -3'
(R):5'- AGCTGGAGGAACCCGAC -3'

Posted On

2019-12-20