Mutagenetix > Incidental Mutation

Incidental Mutation 'R7447:Rab11fip3'

577405

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip3

Ensembl Gene

ENSMUSG00000037098

Gene Name

RAB11 family interacting protein 3 (class II)

Synonyms

D030060O14Rik, Rab11-FIP3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26208010-26288529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 26287848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 102 (R102G)

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: R102G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098
AA Change: R102G

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: R102G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098
AA Change: R102G

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: 99.4%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	T	15: 76,479,396 (GRCm39)	I484F	possibly damaging	Het
Ago2	A	T	15: 73,009,881 (GRCm39)	N100K	probably benign	Het
Appl1	T	A	14: 26,681,409 (GRCm39)	K130*	probably null	Het
Arhgap39	G	A	15: 76,649,797 (GRCm39)		probably benign	Het
Axdnd1	A	G	1: 156,245,802 (GRCm39)		probably null	Het
Camta1	A	T	4: 151,168,327 (GRCm39)	V1332E	probably benign	Het
Cd3g	A	G	9: 44,884,857 (GRCm39)	L129P	probably damaging	Het
Cd80	T	G	16: 38,294,251 (GRCm39)	S45A	probably benign	Het
Cdk12	A	T	11: 98,136,106 (GRCm39)	Q1120L	unknown	Het
Clip1	G	A	5: 123,791,696 (GRCm39)	S158F	probably benign	Het
Cntn3	C	A	6: 102,255,416 (GRCm39)	E161*	probably null	Het
Cyp3a59	A	C	5: 146,024,215 (GRCm39)	K67T	probably benign	Het
Dmxl1	T	C	18: 49,997,681 (GRCm39)	L623P	probably damaging	Het
Drd3	T	A	16: 43,637,426 (GRCm39)	Y208*	probably null	Het
Dusp10	A	T	1: 183,801,153 (GRCm39)	M307L	probably benign	Het
Dync2li1	A	T	17: 84,955,141 (GRCm39)	I267L	possibly damaging	Het
Dynlt2b	T	A	16: 32,244,089 (GRCm39)	V95E	probably damaging	Het
Edn3	C	A	2: 174,603,544 (GRCm39)	C97*	probably null	Het
Ehbp1l1	T	A	19: 5,769,456 (GRCm39)	T616S	possibly damaging	Het
Eif2a	C	T	3: 58,452,963 (GRCm39)	T246I	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Errfi1	A	G	4: 150,951,108 (GRCm39)	T179A	probably damaging	Het
Esyt3	G	A	9: 99,203,615 (GRCm39)	L450F	probably damaging	Het
Evx2	A	G	2: 74,489,448 (GRCm39)	S106P	probably benign	Het
Fam83a	T	G	15: 57,873,086 (GRCm39)	V305G	probably benign	Het
Fem1al	T	C	11: 29,774,122 (GRCm39)	D445G	probably benign	Het
Gpr171	T	A	3: 59,005,860 (GRCm39)		probably null	Het
Grip1	A	G	10: 119,922,871 (GRCm39)	T1106A	probably benign	Het
Hecw1	A	G	13: 14,531,789 (GRCm39)	Y162H	probably damaging	Het
Hephl1	C	T	9: 15,009,178 (GRCm39)		probably null	Het
Hsp90aa1	A	G	12: 110,658,562 (GRCm39)	I693T	possibly damaging	Het
Ifit1bl2	T	A	19: 34,596,974 (GRCm39)	D214V	probably damaging	Het
Igsf10	T	C	3: 59,239,222 (GRCm39)	M320V	probably benign	Het
Kcnq2	A	G	2: 180,754,887 (GRCm39)	L220P	probably damaging	Het
Kpna1	C	A	16: 35,850,009 (GRCm39)	Q372K	probably damaging	Het
Lilrb4a	T	G	10: 51,367,149 (GRCm39)		probably null	Het
Ly75	C	A	2: 60,164,818 (GRCm39)	E787*	probably null	Het
Magi1	T	G	6: 93,722,562 (GRCm39)	S666R	possibly damaging	Het
Mif	C	A	10: 75,695,687 (GRCm39)	A39S	possibly damaging	Het
Mob4	G	A	1: 55,170,625 (GRCm39)		probably benign	Het
Mtmr4	G	T	11: 87,502,727 (GRCm39)	C927F	probably damaging	Het
Myh1	A	G	11: 67,110,006 (GRCm39)	K1398R	probably benign	Het
Myo3a	T	C	2: 22,436,464 (GRCm39)	V873A	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Nckap5l	G	A	15: 99,325,357 (GRCm39)	P382L	probably damaging	Het
Ngly1	T	C	14: 16,290,844 (GRCm38)	I442T	probably damaging	Het
Nhsl3	C	A	4: 129,115,835 (GRCm39)	R988L	possibly damaging	Het
Nlrp1a	T	C	11: 70,983,237 (GRCm39)	Y1243C	probably damaging	Het
Or8k53	T	A	2: 86,177,150 (GRCm39)	H320L	possibly damaging	Het
Pcsk5	C	T	19: 17,487,600 (GRCm39)	G1027D	probably benign	Het
Pla2g2c	T	A	4: 138,458,927 (GRCm39)	I11N	probably benign	Het
Polr3d	A	G	14: 70,677,240 (GRCm39)	I331T	probably damaging	Het
Ppp4r4	A	G	12: 103,551,985 (GRCm39)	I293M	possibly damaging	Het
Prkce	G	T	17: 86,866,687 (GRCm39)	V516F	probably damaging	Het
Prss27	T	A	17: 24,264,683 (GRCm39)	L282Q	probably damaging	Het
Pxdn	A	G	12: 30,034,926 (GRCm39)	Y261C	probably damaging	Het
R3hcc1l	T	C	19: 42,551,101 (GRCm39)	S33P	probably benign	Het
Rabggta	A	T	14: 55,956,773 (GRCm39)	N310K	probably null	Het
Rbbp8	T	A	18: 11,793,934 (GRCm39)	D15E	probably benign	Het
Rbm5	T	C	9: 107,623,378 (GRCm39)	Y486C	probably damaging	Het
Rptor	T	A	11: 119,775,805 (GRCm39)	F992Y	probably benign	Het
Slc29a2	T	G	19: 5,076,445 (GRCm39)	L111R	probably damaging	Het
Slc39a11	T	A	11: 113,452,849 (GRCm39)	I31L	probably benign	Het
Slc6a20a	T	A	9: 123,485,289 (GRCm39)	N311I	possibly damaging	Het
Slc8a1	A	G	17: 81,956,435 (GRCm39)	F201S	probably damaging	Het
Smtn	C	A	11: 3,480,196 (GRCm39)	V342L	probably benign	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tchp	A	G	5: 114,853,716 (GRCm39)	T267A	probably benign	Het
Tes3-ps	A	G	13: 49,647,508 (GRCm39)	E128G	possibly damaging	Het
Tigar	C	T	6: 127,065,129 (GRCm39)	G173E	probably benign	Het
Tmem171	T	C	13: 98,824,862 (GRCm39)	N256S	probably benign	Het
Tmem204	A	G	17: 25,277,270 (GRCm39)	I205T	probably damaging	Het
Tmem63a	A	G	1: 180,785,588 (GRCm39)	K240R	probably benign	Het
Tns2	C	T	15: 102,019,351 (GRCm39)	T446M	probably damaging	Het
Tnxb	A	T	17: 34,937,444 (GRCm39)	N2931I	probably damaging	Het
Trrap	G	T	5: 144,776,284 (GRCm39)	R2941L	probably damaging	Het
Ttc8	A	T	12: 98,910,131 (GRCm39)	R179S	probably damaging	Het
Ttll12	G	T	15: 83,471,176 (GRCm39)	T234N	probably damaging	Het
Ttn	G	T	2: 76,577,576 (GRCm39)	T24439K	probably damaging	Het
Ube2z	A	T	11: 95,946,736 (GRCm39)	I246N	possibly damaging	Het
Usp15	A	G	10: 123,011,786 (GRCm39)	Y104H	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Usp5	G	A	6: 124,798,077 (GRCm39)	A436V	probably damaging	Het
Utp20	A	G	10: 88,608,354 (GRCm39)	L1561S	probably damaging	Het
Xrn1	A	G	9: 95,927,547 (GRCm39)	M1444V	probably benign	Het
Zfp236	G	T	18: 82,651,815 (GRCm39)	Q885K	probably damaging	Het
Zfp831	C	A	2: 174,487,896 (GRCm39)	P857Q	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
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
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'- TCTAGCTCCTTGGCCAAGTG -3'
(R):5'- TATCATCCCTAGTTTAGCCGGC -3'

Sequencing Primer
(F):5'- CTAGCTCTTTGGCCAAGTA -3'
(R):5'- ATCATGGAGCTGTGCCAG -3'

Posted On

2019-10-07