Mutagenetix > Incidental Mutation

Incidental Mutation 'R1625:Rab11fip3'

175009

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

039662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1625 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

26208010-26288529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26287865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 96 (E96G)

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: E96G

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

SMART Domains

Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098
AA Change: E96G

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: E96G

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

SMART Domains

Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098
AA Change: E96G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126306

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,857,947 (GRCm39)	M605L	probably benign	Het
Abcc5	A	T	16: 20,184,567 (GRCm39)	S1031T	probably damaging	Het
Acot7	T	A	4: 152,270,748 (GRCm39)	C31S	probably benign	Het
Acss3	A	T	10: 106,773,263 (GRCm39)		probably null	Het
Adipor1	T	C	1: 134,351,802 (GRCm39)	F83S	possibly damaging	Het
Agrn	G	A	4: 156,257,317 (GRCm39)	S1171L	probably damaging	Het
Aoc1l1	T	A	6: 48,952,105 (GRCm39)	L10Q	probably damaging	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Arid4b	T	A	13: 14,361,699 (GRCm39)	V721D	probably damaging	Het
Aspm	G	A	1: 139,408,777 (GRCm39)	A2555T	probably benign	Het
Atp6v0a1	T	A	11: 100,946,380 (GRCm39)	L791Q	probably damaging	Het
Car11	A	G	7: 45,350,731 (GRCm39)	K76E	probably benign	Het
Casp8ap2	T	A	4: 32,648,068 (GRCm39)	M1925K	probably benign	Het
Cc2d1a	A	T	8: 84,866,001 (GRCm39)	L418Q	probably damaging	Het
Ccl9	G	A	11: 83,466,736 (GRCm39)	R64W	probably damaging	Het
Cfap20dc	A	G	14: 8,431,668 (GRCm38)	Y655H	probably damaging	Het
Cfap43	T	A	19: 47,739,527 (GRCm39)	K1325N	probably damaging	Het
Dars2	G	A	1: 160,881,614 (GRCm39)	P305L	possibly damaging	Het
Ddx11	C	T	17: 66,457,692 (GRCm39)	T859I	probably benign	Het
Dock7	C	T	4: 98,850,433 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,831,839 (GRCm39)	V570A	probably benign	Het
Fermt1	T	A	2: 132,764,751 (GRCm39)	I369F	probably damaging	Het
Fras1	A	G	5: 96,861,849 (GRCm39)	Y2161C	probably damaging	Het
Fras1	C	A	5: 96,857,837 (GRCm39)	P2044T	possibly damaging	Het
Gucy1a1	T	C	3: 82,009,362 (GRCm39)	I549V	probably benign	Het
Hspg2	G	A	4: 137,246,282 (GRCm39)	S1020N	probably benign	Het
Kif21a	A	G	15: 90,826,378 (GRCm39)	S1360P	probably damaging	Het
Lrp3	T	C	7: 34,903,350 (GRCm39)	Y332C	probably damaging	Het
Ltc4s	C	A	11: 50,128,215 (GRCm39)	A32S	possibly damaging	Het
Mgrn1	T	C	16: 4,728,627 (GRCm39)	L84P	probably damaging	Het
Muc2	C	G	7: 141,283,405 (GRCm39)	C672W	probably damaging	Het
Mvp	A	T	7: 126,600,845 (GRCm39)	V52E	probably damaging	Het
Ndrg2	T	C	14: 52,144,420 (GRCm39)	T269A	probably damaging	Het
Notch2	T	A	3: 98,018,891 (GRCm39)	D684E	probably damaging	Het
Nup205	A	G	6: 35,168,878 (GRCm39)	D316G	probably benign	Het
Or12e7	T	A	2: 87,288,016 (GRCm39)	I169K	probably damaging	Het
Or2v2	T	C	11: 49,004,071 (GRCm39)	M161V	probably benign	Het
Or7d11	A	G	9: 19,966,678 (GRCm39)	L27P	probably damaging	Het
Pcsk1	A	T	13: 75,274,971 (GRCm39)	D520V	probably benign	Het
Pik3cg	A	T	12: 32,244,741 (GRCm39)	D904E	probably damaging	Het
Pitpnm2	T	A	5: 124,271,496 (GRCm39)	D359V	probably benign	Het
Ppih	T	C	4: 119,175,779 (GRCm39)	I69V	probably damaging	Het
Retreg3	C	A	11: 100,992,875 (GRCm39)	M1I	probably null	Het
Rfpl4	C	T	7: 5,118,409 (GRCm39)	V54I	possibly damaging	Het
Rif1	T	C	2: 51,993,652 (GRCm39)	I855T	probably benign	Het
Rrm1	T	A	7: 102,117,554 (GRCm39)	I748N	probably damaging	Het
Sap130	T	A	18: 31,807,517 (GRCm39)	N441K	probably damaging	Het
Sf3b1	T	A	1: 55,058,536 (GRCm39)	I18F	probably damaging	Het
Skor2	A	G	18: 76,946,499 (GRCm39)	N74D	unknown	Het
Slc17a6	C	A	7: 51,311,208 (GRCm39)	F307L	probably benign	Het
Slc25a13	G	A	6: 6,096,675 (GRCm39)	L410F	probably damaging	Het
Slc47a1	A	T	11: 61,262,625 (GRCm39)	V38E	probably damaging	Het
Slc8a1	T	A	17: 81,956,670 (GRCm39)	T123S	probably damaging	Het
Slc9a5	C	A	8: 106,094,755 (GRCm39)	T782K	possibly damaging	Het
Spmip7	C	A	11: 11,438,644 (GRCm39)		probably benign	Het
Sppl2c	C	A	11: 104,077,995 (GRCm39)	T265K	probably damaging	Het
Srfbp1	A	G	18: 52,621,788 (GRCm39)	K283R	probably benign	Het
Ssr1	C	T	13: 38,173,479 (GRCm39)		probably null	Het
Stard3nl	T	C	13: 19,556,754 (GRCm39)		probably null	Het
Timeless	G	T	10: 128,076,493 (GRCm39)	S134I	probably damaging	Het
Tll1	A	G	8: 64,494,476 (GRCm39)	F760L	probably damaging	Het
Tspear	A	G	10: 77,706,333 (GRCm39)	I368V	probably benign	Het
Txnrd2	G	T	16: 18,257,116 (GRCm39)	W144L	probably damaging	Het
Unc5d	T	C	8: 29,173,234 (GRCm39)	E668G	probably damaging	Het
Urb1	C	T	16: 90,570,936 (GRCm39)		probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vmn1r66	G	T	7: 10,008,316 (GRCm39)	T239K	probably benign	Het
Vps39	C	T	2: 120,154,106 (GRCm39)	V630M	probably damaging	Het
Wrn	T	C	8: 33,819,158 (GRCm39)	T22A	probably benign	Het
Zfp7	T	A	15: 76,765,374 (GRCm39)	D22E	probably damaging	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
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
R7836:Rab11fip3	UTSW	17	26,287,232 (GRCm39)	missense	possibly damaging	0.82
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'- AAGTGACAGAATGCGTCTGGTTCCT -3'
(R):5'- GAACACGCCCAGCTTCAACGGT -3'

Sequencing Primer
(F):5'- GGGTTCCTCTAGCTCCTTGG -3'
(R):5'- TAGTCGCTGGGCCAAAGA -3'

Posted On

2014-04-24