Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03288:Rac3'

415803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rac3

Ensembl Gene

ENSMUSG00000018012

Gene Name

Rac family small GTPase 3

Synonyms

Rac1B

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

IGL03288

Quality Score

Status

Chromosome

Chromosomal Location

120612296-120614795 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120614092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 118 (T118M)

Ref Sequence

ENSEMBL: ENSMUSP00000119523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026139] [ENSMUST00000026144] [ENSMUST00000106148] [ENSMUST00000142229] [ENSMUST00000145781]

AlphaFold

P60764

Predicted Effect

probably benign
Transcript: ENSMUST00000018156
AA Change: T125M

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012
AA Change: T125M

Domain	Start	End	E-Value	Type
RHO	6	179	8.8e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026139

SMART Domains

Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	4e-11	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	645	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026144

SMART Domains

Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450

Domain	Start	End	E-Value	Type
Pfam:adh_short	8	195	8.9e-51	PFAM
Pfam:KR	9	175	7.1e-9	PFAM
Pfam:Epimerase	10	227	2.3e-7	PFAM
Pfam:adh_short_C2	14	242	6.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106148

SMART Domains

Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450

Domain	Start	End	E-Value	Type
Pfam:adh_short	8	151	2.1e-22	PFAM
Pfam:KR	9	151	4.7e-7	PFAM
Pfam:NAD_binding_10	11	182	3.9e-9	PFAM
Pfam:adh_short_C2	14	150	2.2e-8	PFAM
Pfam:adh_short_C2	157	234	4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134322

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142229
AA Change: T118M

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012
AA Change: T118M

Domain	Start	End	E-Value	Type
RHO	6	172	3.19e-127	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150225

Predicted Effect

probably benign
Transcript: ENSMUST00000145781

SMART Domains

Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	1e-10	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	399	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

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 GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null mice display decreased stride length and impaired thermal nociception, but have improved motor learning and retention of motor behaviors and normal brain morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,761,959 (GRCm39)	K1589R	probably benign	Het
Armc3	T	C	2: 19,240,293 (GRCm39)	F17L	probably damaging	Het
Ccdc17	T	A	4: 116,456,626 (GRCm39)	L465H	probably damaging	Het
Cdh9	A	T	15: 16,856,135 (GRCm39)	D725V	probably damaging	Het
Cert1	T	A	13: 96,770,700 (GRCm39)	D536E	probably benign	Het
Chl1	C	T	6: 103,652,058 (GRCm39)	R309C	probably damaging	Het
Dbt	T	A	3: 116,341,847 (GRCm39)	*483K	probably null	Het
Ddx46	A	G	13: 55,785,907 (GRCm39)	D29G	unknown	Het
Des	T	C	1: 75,338,985 (GRCm39)	I222T	possibly damaging	Het
Dnah8	A	G	17: 30,891,323 (GRCm39)	N776S	probably benign	Het
Fbn1	A	T	2: 125,145,103 (GRCm39)	L2712Q	probably benign	Het
Glb1l3	A	C	9: 26,729,601 (GRCm39)	V622G	probably damaging	Het
Grin2a	T	C	16: 9,487,704 (GRCm39)	D398G	possibly damaging	Het
Itgb3	T	C	11: 104,524,293 (GRCm39)	M143T	probably damaging	Het
Lama2	G	A	10: 27,245,047 (GRCm39)	R245C	probably damaging	Het
Lgals9	G	A	11: 78,875,626 (GRCm39)	A6V	probably benign	Het
Lman2l	A	T	1: 36,482,628 (GRCm39)	Y83N	probably damaging	Het
Lrp2	T	A	2: 69,256,383 (GRCm39)	T4586S	probably benign	Het
Med10	T	C	13: 69,963,816 (GRCm39)		probably benign	Het
Myo18b	A	C	5: 112,937,863 (GRCm39)	L1754R	probably damaging	Het
Myom2	T	C	8: 15,172,679 (GRCm39)	L1202S	probably damaging	Het
Nav3	T	C	10: 109,594,878 (GRCm39)	E1441G	probably damaging	Het
Nme8	T	C	13: 19,880,776 (GRCm39)	E60G	possibly damaging	Het
Npffr2	G	T	5: 89,731,020 (GRCm39)	A317S	probably damaging	Het
Nrxn2	A	G	19: 6,540,726 (GRCm39)	D893G	probably damaging	Het
Nup153	T	C	13: 46,858,681 (GRCm39)	E410G	possibly damaging	Het
Or11h7	T	C	14: 50,890,832 (GRCm39)	I46T	possibly damaging	Het
Or7e178	A	G	9: 20,247,207 (GRCm39)		probably null	Het
Pcdhb10	A	G	18: 37,546,358 (GRCm39)	D478G	probably damaging	Het
Phf13	T	C	4: 152,076,826 (GRCm39)	D122G	possibly damaging	Het
Pkhd1	A	T	1: 20,271,243 (GRCm39)	H3103Q	probably benign	Het
Prr11	A	C	11: 86,987,787 (GRCm39)		probably null	Het
Rad54b	T	C	4: 11,569,833 (GRCm39)	S50P	possibly damaging	Het
Rp1	T	C	1: 4,419,747 (GRCm39)	Q455R	possibly damaging	Het
Semp2l1	T	A	1: 32,584,841 (GRCm39)	E356D	probably benign	Het
Sorl1	T	C	9: 41,944,858 (GRCm39)		probably benign	Het
Spink5	A	T	18: 44,147,827 (GRCm39)	I858F	possibly damaging	Het
Stxbp5	A	T	10: 9,742,447 (GRCm39)		probably null	Het
Svep1	A	C	4: 58,116,532 (GRCm39)	V906G	probably benign	Het
Tlr4	A	G	4: 66,757,990 (GRCm39)	E261G	probably damaging	Het
Zfp704	C	T	3: 9,504,951 (GRCm39)		probably benign	Het
Zfyve9	A	T	4: 108,580,996 (GRCm39)		probably benign	Het

Other mutations in Rac3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0462:Rac3	UTSW	11	120,613,684 (GRCm39)	missense	probably damaging	0.98
R1852:Rac3	UTSW	11	120,614,320 (GRCm39)	missense	possibly damaging	0.89
R1909:Rac3	UTSW	11	120,614,163 (GRCm39)	missense	probably benign	0.00
R5167:Rac3	UTSW	11	120,613,421 (GRCm39)	missense	probably null	0.98
R7117:Rac3	UTSW	11	120,614,343 (GRCm39)	nonsense	probably null
R8064:Rac3	UTSW	11	120,614,401 (GRCm39)	missense	probably benign	0.00
R8903:Rac3	UTSW	11	120,614,071 (GRCm39)	missense	probably damaging	0.99
R9700:Rac3	UTSW	11	120,613,399 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02