Mutagenetix > Incidental Mutations

Incidental Mutation 'R7399:Ralgds'

574002

Institutional Source

Beutler Lab

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: 0.206) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28513125-28553081 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28543655 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 229 (Q229P)

Ref Sequence

ENSEMBL: ENSMUSP00000097812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028170] [ENSMUST00000100241] [ENSMUST00000113893] [ENSMUST00000135803]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028170
AA Change: Q174P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: Q174P

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

possibly damaging
Transcript: ENSMUST00000100241
AA Change: Q229P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: Q229P

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

possibly damaging
Transcript: ENSMUST00000113893
AA Change: Q217P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: Q217P

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

probably benign
Transcript: ENSMUST00000135803

SMART Domains

Protein: ENSMUSP00000115092
Gene: ENSMUSG00000026821

Domain	Start	End	E-Value	Type
RasGEFN	56	127	2.47e-3	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116215
Gene: ENSMUSG00000026821
AA Change: S76R

Domain	Start	End	E-Value	Type
RasGEFN	1	107	5.55e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466		probably null	Het
Arfgef1	T	A	1: 10,180,897	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
C87499	C	A	4: 88,627,965	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483	H639N	probably damaging	Het
Dnah11	T	G	12: 118,027,477	T2385P	probably benign	Het
Dnah11	T	C	12: 118,125,785	E1182G	probably damaging	Het
Dok7	T	C	5: 35,066,471	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Hnmt	T	A	2: 24,003,880	T201S	probably benign	Het
Jup	G	T	11: 100,378,351	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090	D239N		Het
Mgam	T	A	6: 40,666,854	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557		probably benign	Het
Olfr996	A	G	2: 85,579,296	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232		probably null	Het
Ptprf	C	T	4: 118,226,523	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148	V467I	probably benign	Het
Recql	T	C	6: 142,374,884	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286		probably null	Het
Scn5a	A	T	9: 119,486,530	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068	C538S	probably benign	Het
Spert	A	G	14: 75,592,637	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647		probably null	Het
Strip2	T	A	6: 29,927,613	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657		probably benign	Het
Vmn1r42	T	C	6: 89,845,513	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503		probably null	Het
Wdfy4	A	C	14: 33,068,906	V2188G		Het
Zfp623	T	C	15: 75,947,398	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053	V536L	probably damaging	Het

Other mutations in Ralgds

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Ralgds	APN	2	28552218	missense	probably damaging	1.00
IGL01774:Ralgds	APN	2	28550542	nonsense	probably null
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
R7446:Ralgds	UTSW	2	28545889	missense	probably damaging	0.99
R7560:Ralgds	UTSW	2	28547595	missense	probably damaging	1.00
X0028:Ralgds	UTSW	2	28548699	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCTAGTTACTTGGACAGCC -3'
(R):5'- ACAAGATGGTATCCCAGACTCTG -3'

Sequencing Primer
(F):5'- ACTTGTGGGTGGAGGCACAC -3'
(R):5'- GGTGTACTACCTACTGGGCC -3'

Posted On

2019-09-13