Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:Rab11fip2'

525398

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip2

Ensembl Gene

ENSMUSG00000040022

Gene Name

RAB11 family interacting protein 2 (class I)

Synonyms

A830046J09Rik, 4930470G04Rik, Rab11-FIP2, nRip11

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59902884-59943654 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59942856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 49 (T49S)

Ref Sequence

ENSEMBL: ENSMUSP00000133151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051996] [ENSMUST00000170819] [ENSMUST00000171986]

AlphaFold

G3XA57

Predicted Effect

probably damaging
Transcript: ENSMUST00000051996
AA Change: T49S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059978
Gene: ENSMUSG00000040022
AA Change: T49S

Domain	Start	End	E-Value	Type
C2	14	117	1.75e-11	SMART
low complexity region	344	358	N/A	INTRINSIC
Pfam:RBD-FIP	452	499	3.7e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168140

Predicted Effect

probably damaging
Transcript: ENSMUST00000170819
AA Change: T49S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133151
Gene: ENSMUSG00000040022
AA Change: T49S

Domain	Start	End	E-Value	Type
C2	14	117	1.75e-11	SMART
low complexity region	344	358	N/A	INTRINSIC
Pfam:RBD-FIP	452	499	3.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171986

SMART Domains

Protein: ENSMUSP00000128813
Gene: ENSMUSG00000040022

Domain	Start	End	E-Value	Type
low complexity region	202	216	N/A	INTRINSIC
Pfam:RBD-FIP	310	357	3.9e-24	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 124,639,254	L250P	probably damaging	Het
4921539E11Rik	T	C	4: 103,255,572	H12R	probably benign	Het
Abca4	A	C	3: 122,138,501	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,450,304	N963K	probably benign	Het
Arl10	A	G	13: 54,578,937	D176G	probably damaging	Het
Btnl1	T	A	17: 34,385,748	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,615,980	T1079K	probably benign	Het
Cd163	T	A	6: 124,311,635	W342R	probably damaging	Het
Cd70	T	C	17: 57,149,562	S14G	probably benign	Het
Chil4	C	A	3: 106,210,590	K121N	probably benign	Het
Csf1r	A	G	18: 61,110,425	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,569,707		probably null	Het
D3Ertd254e	G	T	3: 36,164,855	L341F	possibly damaging	Het
Dapk1	A	T	13: 60,749,204	I746F	probably benign	Het
Erbb4	A	G	1: 68,370,503	S192P	probably damaging	Het
Exoc8	C	A	8: 124,896,411	V406L	probably damaging	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Greb1	A	T	12: 16,709,440	V652E	probably benign	Het
Ift88	A	G	14: 57,507,259	S745G	probably benign	Het
Il18bp	T	C	7: 102,016,030		probably benign	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Klk11	A	G	7: 43,774,774	S6G	probably benign	Het
Mastl	T	C	2: 23,132,677	Y678C	probably benign	Het
Msra	A	T	14: 64,123,339	H184Q	probably benign	Het
Muc16	A	C	9: 18,609,476		probably null	Het
Myo3a	T	G	2: 22,577,787	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 66,681,540		probably null	Het
Olfr463	T	C	11: 87,893,652	T91A	probably benign	Het
Olfr830	A	G	9: 18,875,849	D174G	possibly damaging	Het
Olfr867	C	T	9: 20,055,046	R139Q	probably benign	Het
Pcdhb18	A	T	18: 37,490,480	I288F	probably damaging	Het
Pitpna	T	G	11: 75,620,315	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,978,221	V81E	possibly damaging	Het
Rsl24d1	T	A	9: 73,113,510	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,219,318	N161S	probably damaging	Het
Shank1	A	G	7: 44,352,336	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,229,209	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,527,641	H207R	probably damaging	Het
Sphkap	T	A	1: 83,275,758	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,881,753		probably benign	Het
Ubqln5	T	A	7: 104,129,489	S43C	probably benign	Het
Vps13d	G	A	4: 145,103,664		probably benign	Het
Wwp1	A	T	4: 19,641,816	V413D	probably damaging	Het

Other mutations in Rab11fip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02883:Rab11fip2	APN	19	59906998	missense	probably damaging	1.00
R0081:Rab11fip2	UTSW	19	59907135	missense	possibly damaging	0.87
R0466:Rab11fip2	UTSW	19	59906243	missense	possibly damaging	0.90
R1690:Rab11fip2	UTSW	19	59937300	missense	probably damaging	1.00
R1718:Rab11fip2	UTSW	19	59935649	missense	probably damaging	1.00
R1884:Rab11fip2	UTSW	19	59937330	missense	probably damaging	1.00
R4196:Rab11fip2	UTSW	19	59935781	missense	probably damaging	1.00
R4680:Rab11fip2	UTSW	19	59936020	missense	probably benign	0.00
R4746:Rab11fip2	UTSW	19	59937110	missense	probably damaging	1.00
R4934:Rab11fip2	UTSW	19	59935858	missense	probably damaging	1.00
R5032:Rab11fip2	UTSW	19	59937367	missense	probably damaging	1.00
R5721:Rab11fip2	UTSW	19	59935610	missense	probably damaging	1.00
R6294:Rab11fip2	UTSW	19	59937099	missense	probably damaging	1.00
R6694:Rab11fip2	UTSW	19	59937275	missense	probably damaging	1.00
R6752:Rab11fip2	UTSW	19	59907043	missense	probably damaging	1.00
R6850:Rab11fip2	UTSW	19	59937009	missense	possibly damaging	0.58
R7350:Rab11fip2	UTSW	19	59937421	missense	probably benign	0.00
R7636:Rab11fip2	UTSW	19	59942885	missense	possibly damaging	0.72
R7875:Rab11fip2	UTSW	19	59937223	missense	possibly damaging	0.91
R8252:Rab11fip2	UTSW	19	59936990	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGATTGATTGCCACCTGCC -3'
(R):5'- ATGCAGTGATCAGGGTACGG -3'

Sequencing Primer
(F):5'- TTGATTGCCACCTGCCCTAAAAAC -3'
(R):5'- GCTTCTGAACTCTGCGCAG -3'

Posted On

2018-06-22