Mutagenetix > Incidental Mutation

Incidental Mutation 'R7849:Rab4a'

606815

Institutional Source

Beutler Lab

Gene Symbol

Rab4a

Ensembl Gene

ENSMUSG00000019478

Gene Name

RAB4A, member RAS oncogene family

Synonyms

Rab4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7849 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124532724-124562026 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 124532876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000113401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117702] [ENSMUST00000118535] [ENSMUST00000127664]

AlphaFold

P56371

Predicted Effect

probably null
Transcript: ENSMUST00000117702
AA Change: M1K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113401
Gene: ENSMUSG00000019478
AA Change: M1K

Domain	Start	End	E-Value	Type
RAB	14	177	1.17e-102	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118535
AA Change: M1K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113886
Gene: ENSMUSG00000019478
AA Change: M1K

Domain	Start	End	E-Value	Type
RAB	14	177	1.17e-102	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	C	1: 89,558,141 (GRCm39)	V143A	probably damaging	Het
Agmo	A	G	12: 37,292,044 (GRCm39)	R2G	probably benign	Het
Alms1	A	T	6: 85,598,479 (GRCm39)	I1102L	possibly damaging	Het
Ankrd13a	T	C	5: 114,929,343 (GRCm39)	I140T	possibly damaging	Het
Arhgef10l	T	A	4: 140,311,245 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,092,345 (GRCm39)	H967Q	possibly damaging	Het
B3galnt2	A	T	13: 14,169,077 (GRCm39)	N370I	probably benign	Het
Bltp1	T	A	3: 37,080,477 (GRCm39)	I325N		Het
Cacna1e	C	T	1: 154,509,464 (GRCm39)	D264N	probably damaging	Het
Ccdc112	A	T	18: 46,429,390 (GRCm39)	Y103N	probably benign	Het
Ccdc68	A	C	18: 70,080,246 (GRCm39)	E197A	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cntn3	T	C	6: 102,242,392 (GRCm39)	M418V	probably benign	Het
Cpne4	T	A	9: 104,563,718 (GRCm39)	C32S	probably damaging	Het
Csf2rb2	A	T	15: 78,168,621 (GRCm39)	S845T	probably benign	Het
Ctnnd2	T	G	15: 31,027,733 (GRCm39)	V1219G	probably damaging	Het
Cyp4f14	G	A	17: 33,128,325 (GRCm39)	A230V	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,094,214 (GRCm39)	C2897S	probably benign	Het
Elavl2	T	A	4: 91,260,280 (GRCm39)		probably benign	Het
Elp1	A	T	4: 56,758,968 (GRCm39)	S1191T	possibly damaging	Het
Fam135a	T	C	1: 24,083,331 (GRCm39)	E298G	probably damaging	Het
Fbn1	A	T	2: 125,151,405 (GRCm39)	I2534N	probably damaging	Het
Fibin	A	G	2: 110,192,825 (GRCm39)	S106P	probably damaging	Het
Fndc3a	C	T	14: 72,802,100 (GRCm39)	V568M	probably benign	Het
Frem2	A	G	3: 53,479,795 (GRCm39)	F1966S	probably damaging	Het
Gata4	T	G	14: 63,442,174 (GRCm39)	E216A	possibly damaging	Het
Gmps	T	A	3: 63,922,984 (GRCm39)	V649E	probably benign	Het
Golga4	A	T	9: 118,388,379 (GRCm39)	N1834Y	possibly damaging	Het
Gpr89	A	T	3: 96,778,806 (GRCm39)	Y422*	probably null	Het
Gzmc	A	T	14: 56,469,829 (GRCm39)	F157Y	probably benign	Het
Hdhd2	A	G	18: 77,052,962 (GRCm39)	D204G	probably damaging	Het
Hspa4	T	G	11: 53,171,530 (GRCm39)	T225P	possibly damaging	Het
Klhl30	T	A	1: 91,287,059 (GRCm39)	D448E	probably benign	Het
Kptn	A	G	7: 15,853,966 (GRCm39)	Y28C	probably damaging	Het
Krt10	A	T	11: 99,278,432 (GRCm39)	N242K	probably damaging	Het
Krt6b	A	T	15: 101,587,009 (GRCm39)	N254K	probably damaging	Het
Lama5	G	T	2: 179,843,605 (GRCm39)	D447E	probably damaging	Het
Lgr6	T	C	1: 134,915,419 (GRCm39)	Y720C	probably damaging	Het
Macf1	G	C	4: 123,301,392 (GRCm39)	P1037A	probably benign	Het
Map3k19	C	T	1: 127,751,383 (GRCm39)	G656D	probably benign	Het
Mroh7	A	C	4: 106,578,287 (GRCm39)	N130K	probably benign	Het
Muc16	T	C	9: 18,551,801 (GRCm39)	T4831A	probably benign	Het
Nfkb1	A	T	3: 135,291,173 (GRCm39)	L533H		Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or4x11	A	G	2: 89,867,626 (GRCm39)	Y121C	probably damaging	Het
Or51k1	C	A	7: 103,661,510 (GRCm39)	R133L	possibly damaging	Het
Or5m3b	G	A	2: 85,871,949 (GRCm39)	V97I	probably benign	Het
Or8a1	A	G	9: 37,642,003 (GRCm39)	I92T	probably damaging	Het
Or8g2b	A	G	9: 39,751,618 (GRCm39)	D296G	possibly damaging	Het
Otub1	T	C	19: 7,177,425 (GRCm39)	D74G	probably damaging	Het
Oxct2b	A	G	4: 123,010,680 (GRCm39)	E200G	probably damaging	Het
Pcdh1	T	C	18: 38,322,662 (GRCm39)	D1057G	probably benign	Het
Pkd1	T	A	17: 24,805,174 (GRCm39)	V3242E	probably damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Pla2g4e	T	A	2: 120,015,803 (GRCm39)	D247V	probably benign	Het
Pole	T	A	5: 110,480,414 (GRCm39)	M1995K	probably benign	Het
Ppargc1a	T	C	5: 51,705,855 (GRCm39)	E76G	probably benign	Het
Pten	G	T	19: 32,777,396 (GRCm39)	R130L	probably damaging	Het
Ptprj	A	T	2: 90,274,804 (GRCm39)	V1186D	probably damaging	Het
Rapgef3	C	A	15: 97,656,271 (GRCm39)		probably null	Het
Rarb	C	A	14: 16,548,473 (GRCm38)	V83F	probably damaging	Het
Rgs22	A	T	15: 36,099,858 (GRCm39)	F410I	probably damaging	Het
Rhpn2	A	C	7: 35,080,912 (GRCm39)	E459A	probably benign	Het
Rims4	A	T	2: 163,705,974 (GRCm39)	L220Q	probably damaging	Het
Robo2	T	C	16: 73,770,132 (GRCm39)	T531A	possibly damaging	Het
Sbf2	T	C	7: 109,971,717 (GRCm39)	H839R	probably damaging	Het
Setbp1	T	C	18: 78,900,068 (GRCm39)	R1200G	probably benign	Het
Slc12a8	C	A	16: 33,444,930 (GRCm39)	P275T	probably damaging	Het
Slc23a1	G	T	18: 35,757,554 (GRCm39)	T239N	probably benign	Het
Slc37a3	T	A	6: 39,341,517 (GRCm39)	T40S	possibly damaging	Het
Speer4c1	T	C	5: 15,915,925 (GRCm39)		probably null	Het
Tet1	A	T	10: 62,655,252 (GRCm39)	H1556Q	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,325 (GRCm39)	D454E	probably damaging	Het
Timd6	T	A	11: 46,468,058 (GRCm39)	I44K	not run	Het
Tmem123	A	T	9: 7,790,890 (GRCm39)	M64L	probably benign	Het
Tmem62	A	T	2: 120,814,853 (GRCm39)	H172L	probably benign	Het
Trim15	T	G	17: 37,177,764 (GRCm39)	Y77S	probably benign	Het
Trim37	T	A	11: 87,092,270 (GRCm39)	V693E	possibly damaging	Het
Trim65	A	G	11: 116,017,082 (GRCm39)	L460S	probably damaging	Het
Ttc39a	T	C	4: 109,279,687 (GRCm39)	V109A	probably benign	Het
Ttc7	A	G	17: 87,600,374 (GRCm39)	M163V	probably null	Het
Vps13b	T	C	15: 35,423,378 (GRCm39)	S233P	probably damaging	Het
Vwf	T	C	6: 125,633,766 (GRCm39)	L2084P		Het
Wasl	A	G	6: 24,633,922 (GRCm39)	V114A	possibly damaging	Het
Wdr5	A	G	2: 27,409,463 (GRCm39)	S62G	probably damaging	Het
Wfdc11	G	T	2: 164,507,445 (GRCm39)	S4*	probably null	Het
Wfikkn2	C	A	11: 94,129,810 (GRCm39)	M110I	probably benign	Het
Wiz	T	G	17: 32,576,760 (GRCm39)	E588A	probably benign	Het
Xylt1	A	G	7: 117,255,891 (GRCm39)	H821R	probably benign	Het
Zbtb7c	A	T	18: 76,278,772 (GRCm39)	H410L	probably benign	Het
Zc3h18	T	A	8: 123,110,710 (GRCm39)	D186E	probably damaging	Het
Zfp687	G	T	3: 94,917,673 (GRCm39)	L700I	possibly damaging	Het
Zmym2	T	A	14: 57,184,020 (GRCm39)	M994K	probably benign	Het

Other mutations in Rab4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Rab4a	APN	8	124,554,153 (GRCm39)	missense	probably damaging	1.00
IGL02553:Rab4a	APN	8	124,550,561 (GRCm39)	missense	probably benign	0.35
R0049:Rab4a	UTSW	8	124,554,081 (GRCm39)	missense	probably damaging	0.99
R0049:Rab4a	UTSW	8	124,554,081 (GRCm39)	missense	probably damaging	0.99
R0613:Rab4a	UTSW	8	124,550,574 (GRCm39)	missense	possibly damaging	0.83
R1828:Rab4a	UTSW	8	124,550,565 (GRCm39)	missense	probably damaging	1.00
R4572:Rab4a	UTSW	8	124,560,799 (GRCm39)	missense	probably benign	0.29
R4694:Rab4a	UTSW	8	124,555,769 (GRCm39)	missense	probably damaging	1.00
R5288:Rab4a	UTSW	8	124,554,113 (GRCm39)	missense	probably benign	0.02
R6994:Rab4a	UTSW	8	124,557,105 (GRCm39)	missense	probably damaging	0.99
R7129:Rab4a	UTSW	8	124,554,069 (GRCm39)	missense	probably benign	0.03
R8073:Rab4a	UTSW	8	124,554,135 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- AGGAGCCTCCAACCATTTCTC -3'
(R):5'- ATTCTCAGGATCCCAGCTGC -3'

Sequencing Primer
(F):5'- TTCCTCCTGCGACCCCG -3'
(R):5'- GGATCCCAGCTGCTGACATTACTAG -3'

Posted On

2019-12-20