Mutagenetix > Incidental Mutation

Incidental Mutation 'R4012:Rab11fip3'

311783

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

040949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4012 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

26208010-26288529 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCTCGTCT to GCT at 26287002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113521 (fasta)

Gene Model

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

AlphaFold

Q8CHD8

Predicted Effect

probably null
Transcript: ENSMUST00000120691

SMART Domains

Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098

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

probably null
Transcript: ENSMUST00000122103

SMART Domains

Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.0%

Validation Efficiency

100% (79/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	G	T	18: 80,174,036 (GRCm39)	F124L	probably benign	Het
Aicda	A	G	6: 122,536,449 (GRCm39)	K10E	probably benign	Het
Als2	A	G	1: 59,226,575 (GRCm39)	C910R	probably benign	Het
Ankrd11	T	A	8: 123,619,156 (GRCm39)	K1565N	probably damaging	Het
Apol7b	T	C	15: 77,308,909 (GRCm39)	D63G	probably damaging	Het
Arhgef4	T	C	1: 34,764,187 (GRCm39)	C1148R	possibly damaging	Het
Atg16l1	A	G	1: 87,694,629 (GRCm39)	D102G	probably damaging	Het
Babam2	T	C	5: 32,158,782 (GRCm39)	V244A	probably damaging	Het
Brd10	T	G	19: 29,720,990 (GRCm39)	K622N	probably damaging	Het
Cars1	G	A	7: 143,113,411 (GRCm39)	A668V	possibly damaging	Het
Ccdc168	T	C	1: 44,100,129 (GRCm39)	D323G	possibly damaging	Het
Ccdc185	T	A	1: 182,576,453 (GRCm39)	S79C	possibly damaging	Het
Ccdc88b	G	C	19: 6,826,359 (GRCm39)	R1119G	probably damaging	Het
Cebpz	A	T	17: 79,231,896 (GRCm39)	V810E	probably damaging	Het
Cep120	T	C	18: 53,871,654 (GRCm39)	T73A	probably damaging	Het
Chat	C	A	14: 32,145,269 (GRCm39)	C380F	possibly damaging	Het
Cltc	T	C	11: 86,648,087 (GRCm39)	Q10R	probably benign	Het
Cripto	C	T	9: 110,769,781 (GRCm39)	M169I	probably benign	Het
Cst8	T	C	2: 148,646,622 (GRCm39)		probably benign	Het
Cts3	C	T	13: 61,715,868 (GRCm39)		probably null	Het
Cyp4a29	T	A	4: 115,105,707 (GRCm39)	D136E	probably benign	Het
Dmxl2	A	C	9: 54,286,297 (GRCm39)		probably null	Het
Dsg4	T	A	18: 20,584,919 (GRCm39)	V211E	possibly damaging	Het
Efcab5	C	T	11: 77,008,656 (GRCm39)	V957I	probably damaging	Het
Eif4g2	A	T	7: 110,673,358 (GRCm39)	L807Q	possibly damaging	Het
Epha4	A	G	1: 77,366,731 (GRCm39)		probably benign	Het
Epm2aip1	A	T	9: 111,101,458 (GRCm39)	I144F	probably benign	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam170a	C	T	18: 50,415,038 (GRCm39)	A228V	probably damaging	Het
Foxred1	A	T	9: 35,117,571 (GRCm39)	M254K	possibly damaging	Het
Gm1527	T	A	3: 28,952,969 (GRCm39)	C90S	probably benign	Het
Gpr137b	T	C	13: 13,533,947 (GRCm39)	T370A	probably benign	Het
Gtf2e2	A	G	8: 34,245,993 (GRCm39)		probably benign	Het
Hgsnat	A	T	8: 26,445,817 (GRCm39)	L359*	probably null	Het
Hhip	A	T	8: 80,719,223 (GRCm39)	C435S	probably damaging	Het
Hoxa13	T	C	6: 52,236,107 (GRCm39)	D310G	possibly damaging	Het
Hspa14	T	C	2: 3,513,675 (GRCm39)	Y18C	probably damaging	Het
Ighg1	A	G	12: 113,293,270 (GRCm39)	V140A	probably damaging	Het
Ighv1-58	A	T	12: 115,275,930 (GRCm39)	Y69*	probably null	Het
Inpp5j	A	G	11: 3,450,185 (GRCm39)	F615L	probably benign	Het
Kcna1	T	A	6: 126,619,873 (GRCm39)	Y149F	probably benign	Het
Kcnj6	A	T	16: 94,625,877 (GRCm39)		probably null	Het
Krtap4-1	G	T	11: 99,518,637 (GRCm39)	C124*	probably null	Het
Lama1	T	A	17: 68,119,368 (GRCm39)	L2615*	probably null	Het
Lcp2	A	T	11: 34,018,439 (GRCm39)	I72F	probably damaging	Het
Med1	T	A	11: 98,062,532 (GRCm39)	I189F	possibly damaging	Het
Meioc	C	T	11: 102,566,654 (GRCm39)	R757C	probably damaging	Het
Mtr	T	A	13: 12,204,283 (GRCm39)	H1171L	probably damaging	Het
Mtr	G	C	13: 12,204,284 (GRCm39)	H1171D	probably damaging	Het
Naa12	A	G	18: 80,255,339 (GRCm39)	D211G	probably benign	Het
Nlrc5	A	G	8: 95,202,620 (GRCm39)	Y240C	possibly damaging	Het
Nsun4	T	A	4: 115,908,259 (GRCm39)	H767L	possibly damaging	Het
Pcdha1	T	A	18: 37,064,189 (GRCm39)	N284K	probably benign	Het
Pcdhgb8	A	C	18: 37,896,414 (GRCm39)	S495R	probably benign	Het
Pramel1	T	A	4: 143,123,260 (GRCm39)	I79N	possibly damaging	Het
Prdm6	A	T	18: 53,673,390 (GRCm39)	E183D	possibly damaging	Het
Prex2	T	C	1: 11,254,740 (GRCm39)	F1125L	probably benign	Het
Prkg2	T	C	5: 99,127,674 (GRCm39)	I346V	possibly damaging	Het
Ptprz1	A	G	6: 23,002,584 (GRCm39)	D1558G	probably damaging	Het
Pttg1ip2	A	C	5: 5,528,955 (GRCm39)	L20R	probably damaging	Het
Qng1	T	A	13: 58,529,800 (GRCm39)	K271*	probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
S100a6	A	G	3: 90,521,508 (GRCm39)	D50G	probably damaging	Het
Shroom3	T	A	5: 93,096,342 (GRCm39)		probably benign	Het
Sipa1l1	G	A	12: 82,388,556 (GRCm39)	V261M	possibly damaging	Het
Slc5a4b	T	A	10: 75,910,826 (GRCm39)	I337F	probably damaging	Het
Smarcc1	A	G	9: 109,961,273 (GRCm39)	Y30C	possibly damaging	Het
Swap70	A	G	7: 109,880,512 (GRCm39)	K576E	possibly damaging	Het
Syt6	A	G	3: 103,532,809 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,241,097 (GRCm39)	I1726V	probably benign	Het
Thoc1	A	G	18: 9,987,651 (GRCm39)	K453E	possibly damaging	Het
Tmem38b	A	G	4: 53,854,409 (GRCm39)	I214V	probably benign	Het
Tonsl	A	T	15: 76,521,244 (GRCm39)	I354N	probably damaging	Het
Trappc9	T	C	15: 72,903,472 (GRCm39)	I303V	possibly damaging	Het
Trim66	A	G	7: 109,057,338 (GRCm39)	S1032P	probably damaging	Het
Tsc22d4	T	C	5: 137,756,590 (GRCm39)	V6A	probably benign	Het
Ubtd2	A	G	11: 32,449,260 (GRCm39)	K36E	probably benign	Het
Zkscan2	T	C	7: 123,097,883 (GRCm39)	E171G	possibly 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
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
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'- GATGAAATCCTCGATGCGGAC -3'
(R):5'- AGAGGAGCCTGATGTCTCTC -3'

Sequencing Primer
(F):5'- TCTGTCCAGGGCGTCAAATAC -3'
(R):5'- GATGTCTCTCACCTGTGGCAG -3'

Posted On

2015-04-29