Mutagenetix > Incidental Mutation

Incidental Mutation 'R4746:Rab11fip2'

356765

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip2

Ensembl Gene

ENSMUSG00000040022

Gene Name

RAB11 family interacting protein 2 (class I)

Synonyms

nRip11, Rab11-FIP2, 4930470G04Rik, A830046J09Rik

MMRRC Submission

041968-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R4746 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59891316-59932086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59925542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 225 (A225V)

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: A225V

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

SMART Domains

Protein: ENSMUSP00000059978
Gene: ENSMUSG00000040022
AA Change: A225V

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

probably damaging
Transcript: ENSMUST00000170819
AA Change: A225V

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

SMART Domains

Protein: ENSMUSP00000133151
Gene: ENSMUSG00000040022
AA Change: A225V

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 damaging
Transcript: ENSMUST00000171986
AA Change: A83V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128813
Gene: ENSMUSG00000040022
AA Change: A83V

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	A	2: 152,282,685 (GRCm39)	S180N	probably benign	Het
Atp5f1a	G	T	18: 77,866,442 (GRCm39)	G165V	probably benign	Het
Cbfa2t2	A	C	2: 154,365,845 (GRCm39)	M352L	possibly damaging	Het
Ccser2	A	T	14: 36,631,082 (GRCm39)	D98E	probably damaging	Het
Cfap20	A	G	8: 96,148,684 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,077,210 (GRCm39)	C379S	possibly damaging	Het
Cic	G	A	7: 24,987,905 (GRCm39)	G1531E	probably damaging	Het
Ckap4	A	G	10: 84,369,384 (GRCm39)	V116A	possibly damaging	Het
Cxcl13	A	G	5: 96,107,756 (GRCm39)	K71E	probably damaging	Het
Dmxl2	A	T	9: 54,359,080 (GRCm39)	I210N	probably benign	Het
Donson	A	C	16: 91,479,125 (GRCm39)	V397G	probably damaging	Het
Dpy19l1	C	A	9: 24,361,966 (GRCm39)	V332L	probably benign	Het
Dsp	T	C	13: 38,379,080 (GRCm39)	S1343P	possibly damaging	Het
Egflam	A	G	15: 7,254,120 (GRCm39)		probably null	Het
Eif2b4	A	G	5: 31,344,997 (GRCm39)	I550T	probably damaging	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Gnb1	C	A	4: 155,627,531 (GRCm39)	A104E	probably damaging	Het
Gnptg	ATTGTTGATGATTT	AT	17: 25,454,571 (GRCm39)		probably benign	Het
Htra4	A	T	8: 25,523,713 (GRCm39)	V284E	probably damaging	Het
Igkv3-3	A	T	6: 70,664,308 (GRCm39)	D50V	probably benign	Het
Irs3	A	G	5: 137,642,209 (GRCm39)	S410P	probably benign	Het
Kif26b	C	T	1: 178,701,546 (GRCm39)	Q642*	probably null	Het
Klhl11	A	T	11: 100,355,176 (GRCm39)	M215K	probably benign	Het
Lamc3	A	G	2: 31,795,626 (GRCm39)	N337S	possibly damaging	Het
Lrrc55	G	A	2: 85,026,514 (GRCm39)	A170V	probably damaging	Het
Marchf3	A	T	18: 56,909,144 (GRCm39)	W214R	probably damaging	Het
Megf11	A	C	9: 64,416,027 (GRCm39)	T79P	probably damaging	Het
Mia3	A	G	1: 183,126,663 (GRCm39)	V26A	possibly damaging	Het
Myrf	A	G	19: 10,195,955 (GRCm39)	F353S	probably damaging	Het
Obscn	A	G	11: 58,970,634 (GRCm39)		probably null	Het
Ocstamp	T	C	2: 165,238,208 (GRCm39)	K352R	probably benign	Het
Or2t35	A	T	14: 14,407,359 (GRCm38)	I46F	probably benign	Het
Or8b12	G	T	9: 37,657,453 (GRCm39)	V8L	probably benign	Het
Osbpl3	T	C	6: 50,305,654 (GRCm39)	N434S	probably damaging	Het
Pign	A	C	1: 105,512,749 (GRCm39)	L645V	probably benign	Het
Polr1has	A	T	17: 37,275,765 (GRCm39)	I116L	probably benign	Het
Polr2a	A	G	11: 69,626,500 (GRCm39)	S1540P	probably benign	Het
Ppp2r3c	A	T	12: 55,349,420 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,082,236 (GRCm39)	V414A	possibly damaging	Het
Pyroxd2	G	A	19: 42,740,839 (GRCm39)	R22*	probably null	Het
Ranbp2	C	T	10: 58,328,492 (GRCm39)	A2836V	probably damaging	Het
Rimklb	G	A	6: 122,449,591 (GRCm39)	R28*	probably null	Het
Scyl3	G	A	1: 163,776,820 (GRCm39)	R404Q	probably damaging	Het
Slc9a8	A	T	2: 167,283,090 (GRCm39)	K79*	probably null	Het
Sowaha	A	T	11: 53,370,163 (GRCm39)		probably null	Het
Tnk1	A	G	11: 69,745,992 (GRCm39)	V311A	probably damaging	Het
Tnrc6a	T	A	7: 122,789,220 (GRCm39)	S1680T	probably damaging	Het
Tpp1	T	C	7: 105,398,158 (GRCm39)	Y335C	probably damaging	Het
Ttc39b	A	G	4: 83,162,340 (GRCm39)	V308A	probably benign	Het
Ttll3	A	C	6: 113,384,353 (GRCm39)	Q557P	probably damaging	Het
Ulk3	G	A	9: 57,500,201 (GRCm39)	A266T	probably benign	Het
Wfdc6b	C	A	2: 164,459,353 (GRCm39)	C138*	probably null	Het

Other mutations in Rab11fip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02883:Rab11fip2	APN	19	59,895,430 (GRCm39)	missense	probably damaging	1.00
R0081:Rab11fip2	UTSW	19	59,895,567 (GRCm39)	missense	possibly damaging	0.87
R0466:Rab11fip2	UTSW	19	59,894,675 (GRCm39)	missense	possibly damaging	0.90
R1690:Rab11fip2	UTSW	19	59,925,732 (GRCm39)	missense	probably damaging	1.00
R1718:Rab11fip2	UTSW	19	59,924,081 (GRCm39)	missense	probably damaging	1.00
R1884:Rab11fip2	UTSW	19	59,925,762 (GRCm39)	missense	probably damaging	1.00
R4196:Rab11fip2	UTSW	19	59,924,213 (GRCm39)	missense	probably damaging	1.00
R4680:Rab11fip2	UTSW	19	59,924,452 (GRCm39)	missense	probably benign	0.00
R4934:Rab11fip2	UTSW	19	59,924,290 (GRCm39)	missense	probably damaging	1.00
R5032:Rab11fip2	UTSW	19	59,925,799 (GRCm39)	missense	probably damaging	1.00
R5721:Rab11fip2	UTSW	19	59,924,042 (GRCm39)	missense	probably damaging	1.00
R6294:Rab11fip2	UTSW	19	59,925,531 (GRCm39)	missense	probably damaging	1.00
R6602:Rab11fip2	UTSW	19	59,931,288 (GRCm39)	missense	probably damaging	1.00
R6694:Rab11fip2	UTSW	19	59,925,707 (GRCm39)	missense	probably damaging	1.00
R6752:Rab11fip2	UTSW	19	59,895,475 (GRCm39)	missense	probably damaging	1.00
R6850:Rab11fip2	UTSW	19	59,925,441 (GRCm39)	missense	possibly damaging	0.58
R7350:Rab11fip2	UTSW	19	59,925,853 (GRCm39)	missense	probably benign	0.00
R7636:Rab11fip2	UTSW	19	59,931,317 (GRCm39)	missense	possibly damaging	0.72
R7875:Rab11fip2	UTSW	19	59,925,655 (GRCm39)	missense	possibly damaging	0.91
R8252:Rab11fip2	UTSW	19	59,925,422 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGTACTCAAACAATCAATGACTGG -3'
(R):5'- CAAGACGAGATCACCTTTTGC -3'

Sequencing Primer
(F):5'- CAATGACTGGCTTTAGAAACACTAC -3'
(R):5'- ACGGGGTGTTTTCTGATAC -3'

Posted On

2015-11-11