Mutagenetix > Incidental Mutation

Incidental Mutation 'R7636:Rab11fip2'

589990

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

045722-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R7636 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59891316-59932086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59931317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 39 (I39K)

Ref Sequence

ENSEMBL: ENSMUSP00000059978 (fasta)

Gene Model

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

AlphaFold

G3XA57

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051996
AA Change: I39K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059978
Gene: ENSMUSG00000040022
AA Change: I39K

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: I39K

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

SMART Domains

Protein: ENSMUSP00000133151
Gene: ENSMUSG00000040022
AA Change: I39K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	C	T	16: 16,935,701 (GRCm39)	E199K	possibly damaging	Het
Akap13	C	A	7: 75,259,621 (GRCm39)	N748K	probably benign	Het
Aldh16a1	G	T	7: 44,796,955 (GRCm39)	P58T	unknown	Het
Amhr2	T	A	15: 102,360,893 (GRCm39)	C343S	probably damaging	Het
Ankrd17	A	T	5: 90,380,239 (GRCm39)	M2483K	possibly damaging	Het
Ano3	A	T	2: 110,513,048 (GRCm39)	L649*	probably null	Het
Apob	T	C	12: 8,059,516 (GRCm39)	I2666T	possibly damaging	Het
C1ql3	A	T	2: 13,015,621 (GRCm39)	V13E	probably benign	Het
Casp12	A	G	9: 5,358,344 (GRCm39)	I384V	probably benign	Het
Cimip2a	A	T	2: 25,108,832 (GRCm39)	H7L	probably damaging	Het
Clcn1	A	T	6: 42,268,268 (GRCm39)	K147*	probably null	Het
Ctnna1	T	A	18: 35,356,526 (GRCm39)	N398K	possibly damaging	Het
Dcdc2a	A	T	13: 25,286,605 (GRCm39)	K176M	probably damaging	Het
Depdc5	T	A	5: 33,075,327 (GRCm39)	S502T	probably benign	Het
Fam83e	G	A	7: 45,376,450 (GRCm39)	D388N	probably damaging	Het
Fbxl15	G	A	19: 46,317,614 (GRCm39)	E99K	probably benign	Het
Fbxw2	T	C	2: 34,702,956 (GRCm39)	T186A	probably benign	Het
Frem2	T	A	3: 53,560,668 (GRCm39)	M1280L	probably benign	Het
Gbgt1	T	A	2: 28,395,326 (GRCm39)	D321E	probably damaging	Het
Gsdmc2	T	A	15: 63,700,041 (GRCm39)	T244S	probably benign	Het
Heatr5a	C	A	12: 51,934,979 (GRCm39)	G1675W	probably damaging	Het
Heatr5a	G	A	12: 51,999,341 (GRCm39)	L287F	probably damaging	Het
Hfm1	C	A	5: 107,065,332 (GRCm39)	A116S	probably benign	Het
Insr	A	G	8: 3,308,709 (GRCm39)	I109T	probably damaging	Het
Itga4	A	G	2: 79,144,176 (GRCm39)	I688V	probably benign	Het
Lipe	A	G	7: 25,088,042 (GRCm39)	M49T	probably benign	Het
Lrriq3	A	G	3: 154,893,787 (GRCm39)	Y496C	probably damaging	Het
Lyst	T	C	13: 13,791,332 (GRCm39)		probably null	Het
Megf10	T	A	18: 57,410,061 (GRCm39)	I614N	possibly damaging	Het
Mkx	A	G	18: 7,000,630 (GRCm39)	I104T	possibly damaging	Het
Mrgpra4	C	A	7: 47,630,721 (GRCm39)	L293F	possibly damaging	Het
Olfm2	A	G	9: 20,579,593 (GRCm39)	V386A	possibly damaging	Het
Or2w3b	A	T	11: 58,623,273 (GRCm39)	N239K	possibly damaging	Het
Or4a15	A	T	2: 89,193,583 (GRCm39)	Y63*	probably null	Het
Or52s6	C	A	7: 103,092,040 (GRCm39)	D97Y	probably damaging	Het
Pkd2l1	G	T	19: 44,179,870 (GRCm39)	D113E	possibly damaging	Het
Rab1b	A	T	19: 5,150,810 (GRCm39)	V99E	probably damaging	Het
Rad54l2	A	T	9: 106,597,586 (GRCm39)	L140Q	probably damaging	Het
Repin1	T	C	6: 48,573,299 (GRCm39)	F76S	probably benign	Het
Robo1	A	G	16: 72,360,615 (GRCm39)	D9G		Het
Scn3a	A	G	2: 65,328,033 (GRCm39)	L819P	probably damaging	Het
Scn7a	A	T	2: 66,574,172 (GRCm39)	N150K	possibly damaging	Het
Sh2d3c	T	C	2: 32,615,023 (GRCm39)	S38P	probably benign	Het
Sin3b	A	T	8: 73,474,362 (GRCm39)	K549*	probably null	Het
Sorl1	A	G	9: 42,003,630 (GRCm39)	F222S	possibly damaging	Het
Spata31h1	T	A	10: 82,130,973 (GRCm39)	D679V	probably benign	Het
Tmem147	A	T	7: 30,427,726 (GRCm39)		probably null	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem179	C	T	12: 112,477,177 (GRCm39)		probably null	Het
Tubg2	A	T	11: 101,050,913 (GRCm39)	I213F	probably damaging	Het
Zfhx3	T	C	8: 109,673,441 (GRCm39)	I1497T	probably benign	Het
Zfp128	A	T	7: 12,624,039 (GRCm39)	M136L	probably benign	Het
Zzz3	G	A	3: 152,133,289 (GRCm39)	A116T	probably benign	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
R4746:Rab11fip2	UTSW	19	59,925,542 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTTATCCAGTCCCACCAGG -3'
(R):5'- TGCTCTTAAGGATGCAGTGATC -3'

Sequencing Primer
(F):5'- CAGGGACCTGTGCATCACTATAAG -3'
(R):5'- TCTTAAGGATGCAGTGATCAGGGTAC -3'

Posted On

2019-10-24