Mutagenetix > Incidental Mutation

Incidental Mutation 'R5138:Rab11fip3'

396321

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

042724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26208010-26288529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26210000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 994 (S994T)

Ref Sequence

ENSEMBL: ENSMUSP00000112875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118828] [ENSMUST00000120691] [ENSMUST00000122103]

AlphaFold

Q8CHD8

Predicted Effect

probably benign
Transcript: ENSMUST00000118828
AA Change: S391T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113048
Gene: ENSMUSG00000037098
AA Change: S391T

Domain	Start	End	E-Value	Type
low complexity region	136	148	N/A	INTRINSIC
low complexity region	313	333	N/A	INTRINSIC
Blast:BRLZ	335	385	2e-11	BLAST
Pfam:RBD-FIP	404	444	2.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120691
AA Change: S994T

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098
AA Change: S994T

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 benign
Transcript: ENSMUST00000122103
AA Change: S1039T

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098
AA Change: S1039T

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: ENSMUST00000180932

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	A	9: 46,218,119 (GRCm39)		probably null	Het
Actr10	G	A	12: 71,008,653 (GRCm39)	G362E	probably damaging	Het
Aldh1a3	T	C	7: 66,057,600 (GRCm39)	T278A	probably damaging	Het
Arpp21	T	A	9: 112,008,152 (GRCm39)	K116M	probably damaging	Het
Arrdc3	T	C	13: 81,039,184 (GRCm39)	Y72H	probably damaging	Het
Atr	T	C	9: 95,819,649 (GRCm39)	V2212A	probably benign	Het
Bcdin3d	A	G	15: 99,368,932 (GRCm39)	F89S	possibly damaging	Het
Cacna1d	C	A	14: 30,212,929 (GRCm39)	A44S	probably benign	Het
Cbx3	A	G	6: 51,452,269 (GRCm39)	E28G	probably damaging	Het
Cdh23	A	T	10: 60,148,061 (GRCm39)	F2722L	probably damaging	Het
Clec11a	A	G	7: 43,954,062 (GRCm39)	V297A	probably benign	Het
Clk2	C	A	3: 89,082,806 (GRCm39)		probably benign	Het
Clybl	T	A	14: 122,608,716 (GRCm39)	C103S	possibly damaging	Het
Col12a1	T	A	9: 79,551,248 (GRCm39)	N2123Y	probably damaging	Het
Corin	G	A	5: 72,496,402 (GRCm39)	P517L	probably damaging	Het
Ddhd2	A	T	8: 26,217,726 (GRCm39)	I717N	probably damaging	Het
Derl2	C	A	11: 70,905,390 (GRCm39)	G31*	probably null	Het
Dgcr8	A	G	16: 18,095,941 (GRCm39)	V523A	probably damaging	Het
Dnah8	T	C	17: 30,984,571 (GRCm39)	S3090P	probably damaging	Het
Dsp	C	A	13: 38,367,274 (GRCm39)	H641N	probably benign	Het
Dsp	A	T	13: 38,379,821 (GRCm39)	T1590S	possibly damaging	Het
Duox2	A	T	2: 122,128,012 (GRCm39)	L57Q	probably damaging	Het
Etfdh	A	T	3: 79,530,880 (GRCm39)	V47D	probably benign	Het
Exoc1	T	C	5: 76,715,922 (GRCm39)	Y823H	probably damaging	Het
Fam81a	C	T	9: 70,006,457 (GRCm39)	R185K	probably benign	Het
Fsip2	A	G	2: 82,811,768 (GRCm39)	I2696V	probably benign	Het
Glis1	GCACACA	GCACA	4: 107,480,302 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,246,664 (GRCm39)	N1548K	probably benign	Het
H3c2	G	A	13: 23,936,613 (GRCm39)	R84H	probably damaging	Het
Hkdc1	A	T	10: 62,234,470 (GRCm39)	I575N	probably damaging	Het
Ifi208	A	G	1: 173,518,239 (GRCm39)	I449V	probably null	Het
Ino80	T	C	2: 119,213,902 (GRCm39)	T1223A	probably damaging	Het
Kctd9	T	C	14: 67,966,197 (GRCm39)		probably null	Het
Khdrbs1	A	G	4: 129,635,647 (GRCm39)	Y103H	probably benign	Het
Kmt2e	A	G	5: 23,707,693 (GRCm39)	H1752R	probably damaging	Het
Lrp5	T	A	19: 3,678,319 (GRCm39)	Q512L	probably benign	Het
Map2k5	T	C	9: 63,170,440 (GRCm39)	T293A	probably damaging	Het
Myo7a	C	A	7: 97,732,806 (GRCm39)	R657L	probably damaging	Het
Myrfl	A	G	10: 116,631,963 (GRCm39)		probably null	Het
Nfatc2	G	A	2: 168,378,229 (GRCm39)	H258Y	probably damaging	Het
Nup205	T	A	6: 35,202,801 (GRCm39)	L1336Q	probably damaging	Het
Or10z1	A	G	1: 174,078,395 (GRCm39)	S33P	probably damaging	Het
Or4c113	T	C	2: 88,885,291 (GRCm39)	I160V	probably benign	Het
Or5an10	T	C	19: 12,276,140 (GRCm39)	M119V	possibly damaging	Het
Otog	T	A	7: 45,899,430 (GRCm39)	S244T	possibly damaging	Het
Pcdh17	T	G	14: 84,684,649 (GRCm39)	I372S	probably damaging	Het
Pira13	A	T	7: 3,827,556 (GRCm39)	Y200*	probably null	Het
Plagl1	A	G	10: 13,003,919 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,931,115 (GRCm39)	F910S	possibly damaging	Het
Prdm13	G	A	4: 21,679,507 (GRCm39)	P328S	unknown	Het
Prdm5	C	T	6: 65,833,086 (GRCm39)	Q152*	probably null	Het
Psat1	A	G	19: 15,892,312 (GRCm39)	F216S	possibly damaging	Het
Psg21	A	T	7: 18,390,453 (GRCm39)	M1K	probably null	Het
Rax	A	G	18: 66,071,389 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,099,934 (GRCm39)	S260R	probably benign	Het
Ryr2	A	T	13: 11,675,175 (GRCm39)	H3317Q	probably damaging	Het
Sc5d	A	G	9: 42,166,811 (GRCm39)	Y243H	probably damaging	Het
Serpinf1	T	C	11: 75,305,854 (GRCm39)	E178G	probably damaging	Het
Slc15a3	A	T	19: 10,833,369 (GRCm39)	Y462F	probably damaging	Het
Slc9b1	G	A	3: 135,063,534 (GRCm39)		probably benign	Het
Slit2	C	T	5: 48,439,309 (GRCm39)	P1111S	probably damaging	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
Snw1	T	C	12: 87,507,205 (GRCm39)	K204E	probably benign	Het
Steap1	A	G	5: 5,786,486 (GRCm39)	I317T	probably damaging	Het
Sval2	A	G	6: 41,838,879 (GRCm39)	N20S	probably damaging	Het
Tfrc	C	A	16: 32,434,027 (GRCm39)	Y85*	probably null	Het
Tmem87a	T	C	2: 120,202,026 (GRCm39)	T412A	possibly damaging	Het
Utp20	T	C	10: 88,583,239 (GRCm39)	K2705E	probably damaging	Het
Vmn1r230	A	T	17: 21,067,230 (GRCm39)	K140*	probably null	Het
Vmn2r62	A	T	7: 42,414,240 (GRCm39)	H734Q	possibly damaging	Het
Zbtb8os	T	A	4: 129,240,719 (GRCm39)		probably benign	Het
Zfp608	A	T	18: 55,024,871 (GRCm39)	H1466Q	probably damaging	Het
Zfp957	C	T	14: 79,450,362 (GRCm39)	C479Y	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
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
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'- TGCAGGCGGAAATTGATCTCC -3'
(R):5'- TCTACCCTCACAGAAGCTCCTG -3'

Sequencing Primer
(F):5'- AGGCGGAAATTGATCTCCTCCTG -3'
(R):5'- CTCACAGAAGCTCCTGAGAGG -3'

Posted On

2016-06-21