Mutagenetix > Incidental Mutation

Incidental Mutation 'R5116:Rab11fip5'

394190

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip5

Ensembl Gene

ENSMUSG00000051343

Gene Name

RAB11 family interacting protein 5 (class I)

Synonyms

D6Ertd32e, RIP11, 9130206P09Rik, GAF1

MMRRC Submission

042704-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85311944-85351616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85325789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 206 (E206K)

Ref Sequence

ENSEMBL: ENSMUSP00000058305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060837] [ENSMUST00000204087]

AlphaFold

Q8R361

Predicted Effect

probably damaging
Transcript: ENSMUST00000060837
AA Change: E206K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343
AA Change: E206K

Domain	Start	End	E-Value	Type
C2	20	143	8.7e-7	SMART
low complexity region	248	265	N/A	INTRINSIC
low complexity region	313	322	N/A	INTRINSIC
low complexity region	356	391	N/A	INTRINSIC
Pfam:RBD-FIP	593	640	5.1e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204087
AA Change: E206K

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: E206K

Domain	Start	End	E-Value	Type
C2	20	143	5.8e-9	SMART
low complexity region	248	265	N/A	INTRINSIC
low complexity region	313	322	N/A	INTRINSIC
low complexity region	356	391	N/A	INTRINSIC
low complexity region	529	547	N/A	INTRINSIC
low complexity region	560	568	N/A	INTRINSIC
low complexity region	603	627	N/A	INTRINSIC
low complexity region	687	692	N/A	INTRINSIC
low complexity region	713	732	N/A	INTRINSIC
low complexity region	852	887	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	1037	1052	N/A	INTRINSIC
low complexity region	1068	1106	N/A	INTRINSIC
low complexity region	1115	1149	N/A	INTRINSIC
Pfam:RBD-FIP	1266	1313	8.5e-20	PFAM

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.5%

Validation Efficiency

97% (59/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,216,930 (GRCm39)	H429R	probably damaging	Het
Adam39	G	T	8: 41,278,038 (GRCm39)	C143F	probably damaging	Het
Adamts19	T	C	18: 59,036,066 (GRCm39)	V417A	possibly damaging	Het
Adcy10	C	A	1: 165,347,069 (GRCm39)	A362E	probably damaging	Het
Akap6	A	G	12: 53,188,298 (GRCm39)	E1904G	probably benign	Het
Aldh18a1	A	G	19: 40,541,949 (GRCm39)	M89T	probably benign	Het
Alyref	G	T	11: 120,488,554 (GRCm39)	F91L	probably benign	Het
Capn3	G	T	2: 120,315,773 (GRCm39)	M248I	probably benign	Het
Catsper4	A	T	4: 133,953,991 (GRCm39)	I56N	probably damaging	Het
Cckbr	T	A	7: 105,082,862 (GRCm39)	I75N	probably damaging	Het
Ccr8	T	C	9: 119,923,095 (GRCm39)	I70T	probably benign	Het
Cdh24	T	C	14: 54,873,870 (GRCm39)	D428G	probably benign	Het
Cdk5rap2	G	T	4: 70,225,475 (GRCm39)	Q557K	possibly damaging	Het
Clip1	C	T	5: 123,768,770 (GRCm39)	A610T	probably benign	Het
Dnajc16	A	T	4: 141,495,280 (GRCm39)	Y479*	probably null	Het
Fpr-rs3	A	G	17: 20,844,562 (GRCm39)	V193A	probably benign	Het
Gm29125	T	C	1: 80,361,690 (GRCm39)		noncoding transcript	Het
H1f4	A	G	13: 23,806,270 (GRCm39)	Y71H	probably damaging	Het
Ifi208	A	G	1: 173,505,549 (GRCm39)		probably benign	Het
Immp1l	G	A	2: 105,795,640 (GRCm39)	R155H	probably benign	Het
Itgad	C	A	7: 127,803,065 (GRCm39)	T7K	probably damaging	Het
Itgb3	T	C	11: 104,531,903 (GRCm39)	V370A	probably benign	Het
Jak1	A	G	4: 101,012,310 (GRCm39)	I1053T	probably benign	Het
Kif21b	A	G	1: 136,080,521 (GRCm39)	R572G	probably damaging	Het
Lama2	A	T	10: 26,994,556 (GRCm39)	D1784E	probably benign	Het
Ltbp2	A	T	12: 84,856,511 (GRCm39)	V651D	probably damaging	Het
Mrpl47	A	G	3: 32,787,750 (GRCm39)	L100S	probably damaging	Het
Mx1	T	G	16: 97,258,679 (GRCm39)	N6T	possibly damaging	Het
Nde1	T	A	16: 14,001,351 (GRCm39)	M133K	probably benign	Het
Nlrc5	T	C	8: 95,208,488 (GRCm39)	L778P	probably damaging	Het
Odad3	A	G	9: 21,901,424 (GRCm39)	*595Q	probably null	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or5l13	G	A	2: 87,779,873 (GRCm39)	R235C	probably benign	Het
Or6c3b	A	G	10: 129,527,266 (GRCm39)	S215P	probably damaging	Het
Or7g32	A	G	9: 19,389,094 (GRCm39)	S151P	possibly damaging	Het
Or8b38	T	C	9: 37,972,634 (GRCm39)	V6A	probably benign	Het
Otog	T	C	7: 45,923,191 (GRCm39)	V1022A	probably benign	Het
Pcdhac1	G	A	18: 37,224,500 (GRCm39)	V438M	probably damaging	Het
Pcsk5	G	A	19: 17,440,798 (GRCm39)	S1264F	possibly damaging	Het
Pfas	T	C	11: 68,881,816 (GRCm39)		probably benign	Het
Pigr	T	A	1: 130,776,768 (GRCm39)	F648I	probably benign	Het
Pla2r1	A	C	2: 60,279,250 (GRCm39)	Y777D	probably damaging	Het
Pnpla7	G	T	2: 24,911,982 (GRCm39)	G716V	probably damaging	Het
S100a10	A	G	3: 93,468,247 (GRCm39)		probably null	Het
Slc35f1	T	C	10: 52,897,991 (GRCm39)	I134T	probably benign	Het
Smarcd1	C	T	15: 99,600,369 (GRCm39)	A56V	probably benign	Het
Snrk	A	G	9: 121,989,396 (GRCm39)	T247A	probably benign	Het
Srgap1	A	G	10: 121,628,284 (GRCm39)	L896P	possibly damaging	Het
Tmem19	A	T	10: 115,179,651 (GRCm39)	F167I	probably benign	Het
Tmprss11f	T	C	5: 86,687,555 (GRCm39)	S118G	probably benign	Het
Tnc	A	G	4: 63,885,452 (GRCm39)		probably null	Het
Trem3	T	C	17: 48,556,580 (GRCm39)	L17P	probably benign	Het
Upp2	A	G	2: 58,661,554 (GRCm39)	Y67C	probably damaging	Het
Zfp276	A	G	8: 123,991,716 (GRCm39)		probably benign	Het
Zfp932	T	A	5: 110,157,242 (GRCm39)	D280E	probably benign	Het

Other mutations in Rab11fip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Rab11fip5	APN	6	85,314,534 (GRCm39)	missense	probably damaging	1.00
IGL02471:Rab11fip5	APN	6	85,325,207 (GRCm39)	missense	probably damaging	0.99
IGL02725:Rab11fip5	APN	6	85,351,471 (GRCm39)	missense	probably damaging	0.99
IGL02737:Rab11fip5	APN	6	85,325,540 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Rab11fip5	UTSW	6	85,318,540 (GRCm39)	missense	probably benign	0.38
R0627:Rab11fip5	UTSW	6	85,325,033 (GRCm39)	missense	probably benign	0.05
R1652:Rab11fip5	UTSW	6	85,325,279 (GRCm39)	missense	probably damaging	0.97
R1961:Rab11fip5	UTSW	6	85,325,973 (GRCm39)	missense	possibly damaging	0.87
R2106:Rab11fip5	UTSW	6	85,351,369 (GRCm39)	missense	probably damaging	0.98
R2142:Rab11fip5	UTSW	6	85,314,210 (GRCm39)	critical splice acceptor site	probably null
R4729:Rab11fip5	UTSW	6	85,351,249 (GRCm39)	missense	probably damaging	0.99
R5001:Rab11fip5	UTSW	6	85,324,788 (GRCm39)	missense	probably damaging	1.00
R5506:Rab11fip5	UTSW	6	85,351,119 (GRCm39)	missense	probably damaging	1.00
R5801:Rab11fip5	UTSW	6	85,314,582 (GRCm39)	missense	probably damaging	0.99
R6338:Rab11fip5	UTSW	6	85,318,360 (GRCm39)	missense	possibly damaging	0.94
R6696:Rab11fip5	UTSW	6	85,318,928 (GRCm39)	missense	possibly damaging	0.65
R6763:Rab11fip5	UTSW	6	85,319,152 (GRCm39)	missense	probably benign	0.02
R6880:Rab11fip5	UTSW	6	85,325,827 (GRCm39)	missense	probably damaging	0.99
R6932:Rab11fip5	UTSW	6	85,318,540 (GRCm39)	missense	probably benign	0.38
R7042:Rab11fip5	UTSW	6	85,351,110 (GRCm39)	missense	possibly damaging	0.82
R7112:Rab11fip5	UTSW	6	85,325,176 (GRCm39)	missense	probably damaging	1.00
R7197:Rab11fip5	UTSW	6	85,319,137 (GRCm39)	missense	probably damaging	1.00
R7384:Rab11fip5	UTSW	6	85,325,312 (GRCm39)	missense	possibly damaging	0.47
R7395:Rab11fip5	UTSW	6	85,318,850 (GRCm39)	missense	probably benign
R7451:Rab11fip5	UTSW	6	85,318,538 (GRCm39)	missense	probably benign	0.06
R7482:Rab11fip5	UTSW	6	85,317,760 (GRCm39)	missense	probably benign	0.41
R8435:Rab11fip5	UTSW	6	85,314,522 (GRCm39)	missense	possibly damaging	0.86
R8674:Rab11fip5	UTSW	6	85,318,910 (GRCm39)	missense	probably benign	0.00
R9040:Rab11fip5	UTSW	6	85,324,915 (GRCm39)	missense	probably damaging	1.00
R9101:Rab11fip5	UTSW	6	85,317,675 (GRCm39)	missense	probably benign
R9129:Rab11fip5	UTSW	6	85,317,892 (GRCm39)	missense	probably benign
R9281:Rab11fip5	UTSW	6	85,318,834 (GRCm39)	missense	probably benign
R9294:Rab11fip5	UTSW	6	85,325,692 (GRCm39)	missense	probably benign	0.18
R9487:Rab11fip5	UTSW	6	85,324,913 (GRCm39)	missense	possibly damaging	0.88
Z1177:Rab11fip5	UTSW	6	85,317,452 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGGAAGACAAGGTGCTGTC -3'
(R):5'- CAAAACCCAAGCTCGTGTG -3'

Sequencing Primer
(F):5'- CTGTCAGAGCCCAGAGAGGTG -3'
(R):5'- TGGTACAGGCTTCACTCCAAG -3'

Posted On

2016-06-15