Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Rab11fip3'

557609

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip3

Ensembl Gene

ENSMUSG00000037098

Gene Name

RAB11 family interacting protein 3 (class II)

Synonyms

D030060O14Rik, Rab11-FIP3

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25989036-26069409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26069090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 30 (D30Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120691] [ENSMUST00000122103]

AlphaFold

Q8CHD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120691
AA Change: D30Y

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098
AA Change: D30Y

Domain	Start	End	E-Value	Type
internal_repeat_1	29	130	3.12e-31	PROSPERO
internal_repeat_1	144	294	3.12e-31	PROSPERO
EFh	500	528	3.03e-1	SMART
EFh	532	560	3.86e1	SMART
low complexity region	739	751	N/A	INTRINSIC
low complexity region	916	936	N/A	INTRINSIC
Blast:BRLZ	938	988	2e-11	BLAST
Pfam:RBD-FIP	1007	1047	4.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122103
AA Change: D30Y

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098
AA Change: D30Y

Domain	Start	End	E-Value	Type
internal_repeat_1	29	130	2.03e-32	PROSPERO
internal_repeat_1	144	294	2.03e-32	PROSPERO
EFh	500	528	3.03e-1	SMART
EFh	532	560	3.86e1	SMART
low complexity region	784	796	N/A	INTRINSIC
low complexity region	961	981	N/A	INTRINSIC
Blast:BRLZ	983	1033	2e-11	BLAST
Pfam:RBD-FIP	1052	1092	4.9e-18	PFAM

Meta Mutation Damage Score

0.1608

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788 (GRCm38)	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142 (GRCm38)	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373 (GRCm38)	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946 (GRCm38)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615 (GRCm38)	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053 (GRCm38)	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208 (GRCm38)	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877 (GRCm38)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278 (GRCm38)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399 (GRCm38)	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412 (GRCm38)	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341 (GRCm38)		probably null	Het
Ctf2	T	A	7: 127,719,304 (GRCm38)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395 (GRCm38)	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625 (GRCm38)	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372 (GRCm38)	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915 (GRCm38)	S40T	unknown	Het
Emg1	T	C	6: 124,705,749 (GRCm38)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043 (GRCm38)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980 (GRCm38)	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861 (GRCm38)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408 (GRCm38)	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190 (GRCm38)	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342 (GRCm38)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010 (GRCm38)	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415 (GRCm38)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719 (GRCm38)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778 (GRCm38)	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640 (GRCm38)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696 (GRCm38)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709 (GRCm38)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489 (GRCm38)	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785 (GRCm38)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454 (GRCm38)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467 (GRCm38)	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872 (GRCm38)	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771 (GRCm38)	A131V	probably benign	Het
Neb	A	T	2: 52,271,592 (GRCm38)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720 (GRCm38)	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046 (GRCm38)	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649 (GRCm38)	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935 (GRCm38)	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905 (GRCm38)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663 (GRCm38)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214 (GRCm38)	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525 (GRCm38)	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112 (GRCm38)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363 (GRCm38)	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627 (GRCm38)	T886S	probably benign	Het
Rassf10	A	T	7: 112,954,500 (GRCm38)	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433 (GRCm38)	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441 (GRCm38)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732 (GRCm38)	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076 (GRCm38)	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162 (GRCm38)	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547 (GRCm38)	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383 (GRCm38)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245 (GRCm38)		probably benign	Het
Spats1	T	A	17: 45,449,169 (GRCm38)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603 (GRCm38)	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955 (GRCm38)	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581 (GRCm38)	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859 (GRCm38)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746 (GRCm38)	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920 (GRCm38)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536 (GRCm38)	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244 (GRCm38)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280 (GRCm38)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130 (GRCm38)	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616 (GRCm38)	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083 (GRCm38)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441 (GRCm38)	L173P	probably benign	Het

Other mutations in Rab11fip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Rab11fip3	APN	17	25,991,809 (GRCm38)	splice site	probably benign
IGL00420:Rab11fip3	APN	17	26,067,625 (GRCm38)	missense	probably benign	0.20
IGL01291:Rab11fip3	APN	17	26,016,113 (GRCm38)	missense	probably damaging	0.99
IGL01473:Rab11fip3	APN	17	26,068,735 (GRCm38)	missense	possibly damaging	0.53
IGL01687:Rab11fip3	APN	17	26,067,982 (GRCm38)	missense	probably damaging	0.97
IGL01764:Rab11fip3	APN	17	26,068,693 (GRCm38)	missense	probably benign	0.02
IGL01977:Rab11fip3	APN	17	26,068,003 (GRCm38)	missense	possibly damaging	0.72
IGL02140:Rab11fip3	APN	17	26,067,892 (GRCm38)	missense	probably benign	0.33
IGL02434:Rab11fip3	APN	17	26,068,835 (GRCm38)	missense	possibly damaging	0.85
IGL02549:Rab11fip3	APN	17	25,994,320 (GRCm38)	missense	probably damaging	0.96
IGL02889:Rab11fip3	APN	17	26,067,679 (GRCm38)	missense	possibly damaging	0.84
IGL02953:Rab11fip3	APN	17	26,067,679 (GRCm38)	missense	possibly damaging	0.84
ANU05:Rab11fip3	UTSW	17	26,016,113 (GRCm38)	missense	probably damaging	0.99
R0193:Rab11fip3	UTSW	17	25,990,999 (GRCm38)	missense	probably damaging	0.99
R0388:Rab11fip3	UTSW	17	26,069,072 (GRCm38)	missense	probably benign	0.33
R0543:Rab11fip3	UTSW	17	25,994,225 (GRCm38)	missense	probably damaging	1.00
R0678:Rab11fip3	UTSW	17	26,068,847 (GRCm38)	missense	probably benign	0.00
R1283:Rab11fip3	UTSW	17	26,004,554 (GRCm38)	missense	probably damaging	1.00
R1473:Rab11fip3	UTSW	17	25,991,322 (GRCm38)	missense	probably damaging	1.00
R1625:Rab11fip3	UTSW	17	26,068,891 (GRCm38)	missense	possibly damaging	0.72
R1973:Rab11fip3	UTSW	17	26,024,391 (GRCm38)	missense	probably damaging	0.97
R2160:Rab11fip3	UTSW	17	26,069,054 (GRCm38)	missense	probably benign	0.33
R2197:Rab11fip3	UTSW	17	26,068,178 (GRCm38)	missense	probably benign
R2382:Rab11fip3	UTSW	17	25,990,867 (GRCm38)	nonsense	probably null
R3028:Rab11fip3	UTSW	17	26,015,942 (GRCm38)	critical splice donor site	probably null
R3797:Rab11fip3	UTSW	17	26,068,526 (GRCm38)	missense	possibly damaging	0.73
R4012:Rab11fip3	UTSW	17	26,068,028 (GRCm38)	frame shift	probably null
R4064:Rab11fip3	UTSW	17	26,024,394 (GRCm38)	missense	probably damaging	0.97
R4478:Rab11fip3	UTSW	17	26,016,083 (GRCm38)	missense	probably damaging	1.00
R4527:Rab11fip3	UTSW	17	26,036,657 (GRCm38)	missense	probably damaging	1.00
R4565:Rab11fip3	UTSW	17	26,068,706 (GRCm38)	missense	possibly damaging	0.73
R5048:Rab11fip3	UTSW	17	26,067,580 (GRCm38)	critical splice donor site	probably null
R5138:Rab11fip3	UTSW	17	25,991,026 (GRCm38)	missense	probably benign	0.32
R5317:Rab11fip3	UTSW	17	26,068,078 (GRCm38)	missense	possibly damaging	0.72
R5453:Rab11fip3	UTSW	17	25,992,581 (GRCm38)	critical splice donor site	probably null
R5495:Rab11fip3	UTSW	17	26,016,143 (GRCm38)	missense	probably damaging	0.99
R5525:Rab11fip3	UTSW	17	25,991,295 (GRCm38)	missense	probably damaging	1.00
R5654:Rab11fip3	UTSW	17	26,016,064 (GRCm38)	missense	probably damaging	1.00
R5716:Rab11fip3	UTSW	17	26,036,664 (GRCm38)	missense	probably damaging	1.00
R5818:Rab11fip3	UTSW	17	26,016,116 (GRCm38)	missense	probably damaging	1.00
R6044:Rab11fip3	UTSW	17	26,067,869 (GRCm38)	missense	possibly damaging	0.93
R6716:Rab11fip3	UTSW	17	25,991,057 (GRCm38)	missense	probably damaging	1.00
R6785:Rab11fip3	UTSW	17	25,991,718 (GRCm38)	missense	probably damaging	0.99
R7390:Rab11fip3	UTSW	17	26,068,152 (GRCm38)	missense	possibly damaging	0.81
R7447:Rab11fip3	UTSW	17	26,068,874 (GRCm38)	missense	possibly damaging	0.66
R7836:Rab11fip3	UTSW	17	26,068,258 (GRCm38)	missense	possibly damaging	0.82
R7981:Rab11fip3	UTSW	17	25,997,989 (GRCm38)	missense	probably damaging	0.98
R8008:Rab11fip3	UTSW	17	26,067,982 (GRCm38)	missense	probably damaging	0.97
R8887:Rab11fip3	UTSW	17	26,067,953 (GRCm38)	missense	possibly damaging	0.83
R8962:Rab11fip3	UTSW	17	26,012,033 (GRCm38)	missense	probably damaging	1.00
R9250:Rab11fip3	UTSW	17	26,018,245 (GRCm38)	missense	unknown
R9329:Rab11fip3	UTSW	17	26,012,058 (GRCm38)	missense	probably benign	0.15
R9506:Rab11fip3	UTSW	17	25,994,276 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGACAGGATTCATCGGG -3'
(R):5'- TTACATCATCCGGACTGTGCC -3'

Sequencing Primer
(F):5'- ACAGGATTCATCGGGCTCCTG -3'
(R):5'- ACTGTGCCGCTGCCATG -3'

Posted On

2019-06-26