Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Rab11fip5'

514322

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

044492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85311944-85351616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85318360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 843 (E843G)

Ref Sequence

ENSEMBL: ENSMUSP00000145402 (fasta)

Gene Model

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

AlphaFold

Q8R361

Predicted Effect

probably benign
Transcript: ENSMUST00000060837

SMART Domains

Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343

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: E843G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: E843G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204504

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 97,906,922 (GRCm39)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,068,857 (GRCm39)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,792,466 (GRCm39)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,255,042 (GRCm39)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,687,490 (GRCm39)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,664,070 (GRCm39)	S738G	probably benign	Het
Arid5b	C	A	10: 67,934,391 (GRCm39)	G504*	probably null	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,899,154 (GRCm39)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,248,930 (GRCm39)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,532,605 (GRCm39)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,703,100 (GRCm39)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,982,492 (GRCm39)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,244,896 (GRCm39)	E55G	probably damaging	Het
Efcab3	C	T	11: 104,734,034 (GRCm39)	R2027*	probably null	Het
Fam13a	A	G	6: 58,930,484 (GRCm39)	V476A	probably damaging	Het
Fem1b	A	T	9: 62,704,293 (GRCm39)	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489 (GRCm39)	V466I	probably benign	Het
Gm20671	A	T	5: 32,977,991 (GRCm39)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 186,957,711 (GRCm39)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,465,880 (GRCm39)	T450A	probably benign	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Krit1	T	G	5: 3,886,857 (GRCm39)	M702R	probably benign	Het
Krt34	T	C	11: 99,929,316 (GRCm39)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,612,376 (GRCm39)	N376K	possibly damaging	Het
Myo15a	A	G	11: 60,368,959 (GRCm39)	E573G	probably damaging	Het
Or11j4	T	A	14: 50,630,857 (GRCm39)	F215I	possibly damaging	Het
Or1af1	A	T	2: 37,109,834 (GRCm39)	D111V	probably damaging	Het
Or1e31	A	T	11: 73,690,145 (GRCm39)	L146Q	possibly damaging	Het
Or2y17	A	G	11: 49,231,694 (GRCm39)	S112G	probably benign	Het
Or4c119	T	A	2: 88,986,715 (GRCm39)	K268I	probably damaging	Het
Or56b2	T	A	7: 104,337,378 (GRCm39)	V52E	possibly damaging	Het
Phf20	A	T	2: 156,115,606 (GRCm39)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Pold3	A	G	7: 99,737,312 (GRCm39)	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,630,505 (GRCm39)		probably null	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Rai14	T	C	15: 10,575,062 (GRCm39)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,599,823 (GRCm39)	C268S	probably null	Het
Slc6a13	T	A	6: 121,311,798 (GRCm39)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,338,492 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,232,581 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,527,966 (GRCm39)	V1408I	probably benign	Het
Suclg1	T	C	6: 73,241,229 (GRCm39)	I183T	probably damaging	Het
Syne1	T	C	10: 5,205,475 (GRCm39)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,706,361 (GRCm39)	R121*	probably null	Het
Tdpoz2	C	T	3: 93,559,643 (GRCm39)	V110I	probably benign	Het
Ubn2	A	G	6: 38,467,649 (GRCm39)	T788A	probably benign	Het
Unc13c	T	A	9: 73,641,729 (GRCm39)	I1255F	probably damaging	Het
Usp44	G	T	10: 93,682,375 (GRCm39)	R275I	probably damaging	Het
Uspl1	A	G	5: 149,151,844 (GRCm39)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	possibly damaging	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
R5116:Rab11fip5	UTSW	6	85,325,789 (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
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'- TCCTCCTTAGACTCTTGGGG -3'
(R):5'- TCAGATGACACTCCTGGAGG -3'

Sequencing Primer
(F):5'- GGGACCAATGGCCAATGCAC -3'
(R):5'- TCCTGGAGGCCGAGATGAG -3'

Posted On

2018-04-27