Mutagenetix > Incidental Mutations

Incidental Mutation 'R6753:Rab22a'

530876

Institutional Source

Beutler Lab

Gene Symbol

Rab22a

Ensembl Gene

ENSMUSG00000027519

Gene Name

RAB22A, member RAS oncogene family

Synonyms

Rab22, E130120E14Rik, 3732413A17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173659760-173707343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 173701055 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 167 (A167V)

Ref Sequence

ENSEMBL: ENSMUSP00000104738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029024] [ENSMUST00000109110] [ENSMUST00000142820]

Predicted Effect

probably benign
Transcript: ENSMUST00000029024
AA Change: A174V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029024
Gene: ENSMUSG00000027519
AA Change: A174V

Domain	Start	End	E-Value	Type
RAB	6	169	1.96e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109110
AA Change: A167V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104738
Gene: ENSMUSG00000027519
AA Change: A167V

Domain	Start	End	E-Value	Type
Pfam:Arf	1	159	2.7e-8	PFAM
Pfam:Miro	7	114	4.3e-14	PFAM
Pfam:Ras	7	161	2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142820

SMART Domains

Protein: ENSMUSP00000122799
Gene: ENSMUSG00000027519

Domain	Start	End	E-Value	Type
Pfam:Ras	7	61	1.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183857

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,010,151	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Agk	T	A	6: 40,368,570		probably null	Het
Akap10	A	T	11: 61,886,777	M586K	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128	T559I	unknown	Het
Comt	T	C	16: 18,408,021	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084	I107K	probably damaging	Het
Gucy1b1	T	C	3: 82,039,747	D385G	probably null	Het
Ints1	T	A	5: 139,765,175	E824D	probably damaging	Het
Itfg1	T	C	8: 85,835,078	D142G	probably benign	Het
Jaml	A	G	9: 45,107,379	N359D	probably benign	Het
Kcnh7	T	A	2: 62,850,377	I289L	probably benign	Het
Klf12	G	A	14: 100,109,776	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,867,358	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,928,374	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798	M33I	probably benign	Het
Otog	A	C	7: 46,249,071	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 109,624,449	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100	F308I	probably damaging	Het
Rims2	A	G	15: 39,566,973	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906		probably benign	Het
Son	A	G	16: 91,657,188	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785	R1880L	probably benign	Het
Sun1	G	A	5: 139,215,259		probably null	Het
Tprn	A	G	2: 25,264,038	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377	M1K	probably null	Het
Ttn	C	A	2: 76,738,221	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527		probably null	Het
Unc13b	C	T	4: 43,239,331	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029	I483N	probably damaging	Het

Other mutations in Rab22a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Rab22a	APN	2	173688210	missense	probably damaging	1.00
IGL01889:Rab22a	APN	2	173688238	intron	probably benign
IGL03113:Rab22a	APN	2	173661472	missense	probably damaging	1.00
PIT1430001:Rab22a	UTSW	2	173695170	missense	probably benign	0.09
R0304:Rab22a	UTSW	2	173661459	missense	probably damaging	1.00
R1937:Rab22a	UTSW	2	173688211	missense	probably damaging	1.00
R2914:Rab22a	UTSW	2	173695281	missense	probably benign	0.00
R4473:Rab22a	UTSW	2	173695263	missense	probably damaging	1.00
R4474:Rab22a	UTSW	2	173695263	missense	probably damaging	1.00
R4476:Rab22a	UTSW	2	173695263	missense	probably damaging	1.00
R4559:Rab22a	UTSW	2	173661433	missense	probably damaging	1.00
R5163:Rab22a	UTSW	2	173661487	missense	probably damaging	0.99
R5934:Rab22a	UTSW	2	173661504	missense	probably damaging	1.00
R7654:Rab22a	UTSW	2	173688175	missense	probably benign	0.00
R8089:Rab22a	UTSW	2	173688220	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCATTAGGTGACTGTGGG -3'
(R):5'- GCTGCAGTCTTCCAAGAGAAC -3'

Sequencing Primer
(F):5'- TGGGTCAGGTGAAGAGGGATACTC -3'
(R):5'- AACAGCCGGTTCTCTGAGTC -3'

Posted On

2018-08-01