Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01774:Ralgds'

154056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ralgds

Ensembl Gene

ENSMUSG00000026821

Gene Name

ral guanine nucleotide dissociation stimulator

Synonyms

RalGDS, Gnds, Rgds

Accession Numbers

Ncbi RefSeq: NM_001145835.1, NM_001145836.1, NM_009058.2, NM_001145834.1; MGI:107485

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

28513125-28553081 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 28550542 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 88 (Q88*)

Ref Sequence

ENSEMBL: ENSMUSP00000118966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028170] [ENSMUST00000100241] [ENSMUST00000113893] [ENSMUST00000140704]

Predicted Effect

probably null
Transcript: ENSMUST00000028170
AA Change: Q788*

SMART Domains

Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: Q788*

Domain	Start	End	E-Value	Type
RasGEFN	56	194	4.02e-37	SMART
low complexity region	239	285	N/A	INTRINSIC
RasGEF	320	587	5.28e-118	SMART
low complexity region	613	626	N/A	INTRINSIC
low complexity region	646	655	N/A	INTRINSIC
low complexity region	683	712	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
RA	736	823	6.51e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000100241
AA Change: Q843*

SMART Domains

Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: Q843*

Domain	Start	End	E-Value	Type
RasGEFN	111	249	4.02e-37	SMART
low complexity region	294	340	N/A	INTRINSIC
RasGEF	375	642	5.28e-118	SMART
low complexity region	668	681	N/A	INTRINSIC
low complexity region	701	710	N/A	INTRINSIC
low complexity region	738	767	N/A	INTRINSIC
low complexity region	771	781	N/A	INTRINSIC
RA	791	878	6.51e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113893
AA Change: Q831*

SMART Domains

Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: Q831*

Domain	Start	End	E-Value	Type
RasGEFN	111	237	1.25e-42	SMART
low complexity region	282	328	N/A	INTRINSIC
RasGEF	363	630	5.28e-118	SMART
low complexity region	656	669	N/A	INTRINSIC
low complexity region	689	698	N/A	INTRINSIC
low complexity region	726	755	N/A	INTRINSIC
low complexity region	759	769	N/A	INTRINSIC
RA	779	866	6.51e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137513

Predicted Effect

probably null
Transcript: ENSMUST00000140704
AA Change: Q88*

SMART Domains

Protein: ENSMUSP00000118966
Gene: ENSMUSG00000026821
AA Change: Q88*

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
RA	36	123	6.51e-22	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 3574574
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous mutant mice exhibit reduced tumor incidence, size and progression to malignancy in multistage skin carcinogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(16) : Targeted(5) Gene trapped(11)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,477,835	D708G	probably damaging	Het
Abca16	T	C	7: 120,421,801		probably benign	Het
Abcc5	T	C	16: 20,378,457	D674G	probably damaging	Het
Abr	A	G	11: 76,464,299		probably benign	Het
Arfgef3	A	G	10: 18,743,615	I4T	possibly damaging	Het
Btla	A	G	16: 45,250,548	N290S	possibly damaging	Het
Catip	C	A	1: 74,368,483	R325S	probably damaging	Het
Cep120	A	G	18: 53,706,830	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,115,307	I221V	probably benign	Het
Eloc	A	T	1: 16,645,789	D37E	probably benign	Het
Fabp12	A	C	3: 10,247,694	N89K	probably benign	Het
Ficd	G	T	5: 113,739,012	R416L	probably damaging	Het
Frmd3	T	C	4: 74,187,838	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,535,236		probably benign	Het
Gatc	G	A	5: 115,341,017	Q45*	probably null	Het
Gm5414	T	C	15: 101,626,975	D225G	probably benign	Het
Itpkc	G	T	7: 27,212,370	A592E	probably benign	Het
Kl	G	T	5: 150,988,483	V566L	probably benign	Het
Lpin1	T	A	12: 16,558,476	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,385,885	Y483C	probably damaging	Het
Neb	C	T	2: 52,222,970	W67*	probably null	Het
Nrarp	T	C	2: 25,181,286	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr659	T	C	7: 104,670,942	I80T	probably benign	Het
Pacs2	T	A	12: 113,056,842	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,277	K420R	probably benign	Het
Rag2	A	G	2: 101,630,047	Y234C	probably damaging	Het
Rictor	T	C	15: 6,769,777	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,925,613	Q276*	probably null	Het
Tas2r134	C	T	2: 51,628,148	T213I	probably benign	Het
Tecpr1	A	G	5: 144,211,540	I349T	probably damaging	Het
Tnxb	T	C	17: 34,688,839	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,375,050	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,583,627	I229L	probably benign	Het
Vnn1	T	C	10: 23,900,710	Y320H	probably benign	Het
Zfp990	T	C	4: 145,536,948	V172A	probably benign	Het

Other mutations in Ralgds

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Ralgds	APN	2	28552218	missense	probably damaging	1.00
IGL02747:Ralgds	APN	2	28548110	unclassified	probably benign
IGL03135:Ralgds	APN	2	28549088	missense	probably damaging	0.99
PIT4458001:Ralgds	UTSW	2	28542474	missense	probably damaging	1.00
PIT4531001:Ralgds	UTSW	2	28545214	nonsense	probably null
R0049:Ralgds	UTSW	2	28542379	synonymous	silent
R0052:Ralgds	UTSW	2	28544388	critical splice donor site	probably null
R0052:Ralgds	UTSW	2	28544388	critical splice donor site	probably null
R0285:Ralgds	UTSW	2	28550569	splice site	probably null
R0665:Ralgds	UTSW	2	28545206	missense	probably damaging	0.98
R0718:Ralgds	UTSW	2	28549116	missense	probably benign	0.37
R1755:Ralgds	UTSW	2	28550546	missense	probably damaging	0.99
R1966:Ralgds	UTSW	2	28545875	missense	probably damaging	0.96
R2873:Ralgds	UTSW	2	28548769	splice site	probably null
R2874:Ralgds	UTSW	2	28548769	splice site	probably null
R4082:Ralgds	UTSW	2	28552271	utr 3 prime	probably benign
R4342:Ralgds	UTSW	2	28552095	missense	probably damaging	1.00
R4344:Ralgds	UTSW	2	28552095	missense	probably damaging	1.00
R4647:Ralgds	UTSW	2	28545520	critical splice donor site	probably null
R4738:Ralgds	UTSW	2	28545416	missense	probably damaging	1.00
R4762:Ralgds	UTSW	2	28552152	missense	probably damaging	0.97
R5027:Ralgds	UTSW	2	28552090	critical splice acceptor site	probably null
R5320:Ralgds	UTSW	2	28545212	missense	probably damaging	1.00
R5738:Ralgds	UTSW	2	28542526	intron	probably benign
R5969:Ralgds	UTSW	2	28542414	missense	probably damaging	1.00
R6014:Ralgds	UTSW	2	28543661	missense	probably damaging	0.97
R6136:Ralgds	UTSW	2	28550565	critical splice donor site	probably null
R6137:Ralgds	UTSW	2	28547588	missense	probably damaging	0.99
R6583:Ralgds	UTSW	2	28533644	missense	probably damaging	0.99
R6618:Ralgds	UTSW	2	28550511	missense	probably benign	0.09
R6801:Ralgds	UTSW	2	28548436	missense	probably damaging	1.00
R7046:Ralgds	UTSW	2	28540729	missense	probably damaging	1.00
R7095:Ralgds	UTSW	2	28549308	missense	possibly damaging	0.83
R7276:Ralgds	UTSW	2	28545872	missense	probably damaging	1.00
R7399:Ralgds	UTSW	2	28543655	missense	possibly damaging	0.95
R7446:Ralgds	UTSW	2	28545889	missense	probably damaging	0.99
R7560:Ralgds	UTSW	2	28547595	missense	probably damaging	1.00
R8384:Ralgds	UTSW	2	28547170	missense	probably damaging	1.00
X0028:Ralgds	UTSW	2	28548699	missense	probably damaging	1.00

Posted On

2014-02-04