Mutagenetix > Incidental Mutations

Incidental Mutation 'R1966:Ralgds'

218908

Institutional Source

Beutler Lab

Gene Symbol

Ralgds

Ensembl Gene

ENSMUSG00000026821

Gene Name

ral guanine nucleotide dissociation stimulator

Synonyms

RalGDS, Gnds, Rgds

MMRRC Submission

039979-MU

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: 0.134) question?

Stock #

R1966 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28513125-28553081 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28545875 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 504 (V504E)

Ref Sequence

ENSEMBL: ENSMUSP00000097812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028170] [ENSMUST00000100241] [ENSMUST00000113893] [ENSMUST00000135803] [ENSMUST00000140704]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028170
AA Change: V449E

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: V449E

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 damaging
Transcript: ENSMUST00000100241
AA Change: V504E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: V504E

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 benign
Transcript: ENSMUST00000113893
AA Change: V492E

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: V492E

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

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

probably benign
Transcript: ENSMUST00000137215

SMART Domains

Protein: ENSMUSP00000116215
Gene: ENSMUSG00000026821

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137513

Predicted Effect

probably benign
Transcript: ENSMUST00000140704

SMART Domains

Protein: ENSMUSP00000118966
Gene: ENSMUSG00000026821

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146217

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	A	G	16: 8,830,581	E41G	possibly damaging	Het
2410002F23Rik	T	A	7: 44,251,226	V185E	probably benign	Het
Abca1	A	C	4: 53,050,409	V1608G	probably damaging	Het
Ap2b1	T	C	11: 83,346,895	I557T	probably benign	Het
Arhgef15	G	T	11: 68,954,675	P117Q	probably damaging	Het
Arhgef39	T	C	4: 43,496,710	S335G	probably benign	Het
Blm	A	T	7: 80,513,186	F139Y	possibly damaging	Het
Cacna2d1	C	T	5: 16,333,785	R581*	probably null	Het
Cadps	C	A	14: 12,822,450	E97*	probably null	Het
Cavin2	T	A	1: 51,289,642	L86Q	probably damaging	Het
Ccdc136	A	G	6: 29,418,092	E787G	probably damaging	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cdh23	T	C	10: 60,323,582	Y2138C	probably damaging	Het
Cdk12	T	A	11: 98,204,090	Y241*	probably null	Het
Clcn4	T	A	7: 7,284,185	*688L	probably null	Het
Cntnap1	T	C	11: 101,180,386	V375A	possibly damaging	Het
Coq5	T	A	5: 115,294,831		probably null	Het
Cyp4b1	A	G	4: 115,625,879	I405T	probably benign	Het
Det1	T	C	7: 78,843,218	Y346C	probably damaging	Het
Enpp3	A	T	10: 24,807,491	V276E	probably damaging	Het
Epb41l2	G	A	10: 25,441,768	R61Q	probably benign	Het
Fam76b	G	A	9: 13,828,066		probably null	Het
Fbxo45	A	T	16: 32,233,230	D238E	probably benign	Het
Fnip2	G	A	3: 79,493,472	T314I	probably benign	Het
Fsip2	T	C	2: 82,992,780	S6286P	possibly damaging	Het
Gbf1	T	C	19: 46,271,564	F999L	probably damaging	Het
Gm14139	T	A	2: 150,191,907	D49E	probably benign	Het
Gnao1	C	A	8: 93,944,199	T102K	probably benign	Het
Gpatch2	T	A	1: 187,322,301	D76E	probably damaging	Het
Gpd1l	A	G	9: 114,914,394	I146T	probably benign	Het
Grik2	A	T	10: 49,355,909	H508Q	probably damaging	Het
Hk3	A	T	13: 55,014,455	F112Y	probably damaging	Het
Hmcn2	T	G	2: 31,389,329	I1781S	probably damaging	Het
Inhba	A	T	13: 16,026,636	K261M	probably damaging	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kcna2	T	C	3: 107,104,630	S176P	probably damaging	Het
Kcnj3	A	T	2: 55,437,331	Q44L	probably damaging	Het
Kcns1	G	T	2: 164,168,535	F101L	probably damaging	Het
Kdm5b	T	A	1: 134,613,873		probably null	Het
Klhl14	C	T	18: 21,554,673	G564D	probably damaging	Het
Klhl18	A	T	9: 110,476,590	V2E	probably benign	Het
Klhl6	T	C	16: 19,982,822	E61G	probably damaging	Het
Krt1	T	C	15: 101,848,992	D261G	probably benign	Het
Lama5	C	A	2: 180,188,352	C1896F	probably damaging	Het
Lrba	A	G	3: 86,605,868		probably null	Het
Lrch3	A	G	16: 32,914,385	T82A	possibly damaging	Het
Maml3	C	G	3: 52,104,139	G2A	unknown	Het
Mapkap1	T	A	2: 34,518,679	N34K	probably damaging	Het
Muc13	A	T	16: 33,814,539	I488F	probably damaging	Het
Muc5ac	A	G	7: 141,803,376	D1129G	possibly damaging	Het
Nacc1	A	T	8: 84,676,381	N288K	probably damaging	Het
Nek1	T	G	8: 61,016,296	I129R	probably damaging	Het
Nf1	T	A	11: 79,411,564	S319R	possibly damaging	Het
Nle1	C	T	11: 82,901,788	G432D	probably damaging	Het
Nol4l	A	G	2: 153,529,455	V103A	probably benign	Het
Oca2	A	G	7: 56,414,467	I737V	probably damaging	Het
Olfr1270	T	C	2: 90,149,404	S201G	probably damaging	Het
Olfr231	G	T	1: 174,117,251	S255*	probably null	Het
Olfr346	G	A	2: 36,688,784	V261I	probably benign	Het
Olfr358	A	T	2: 37,004,948	F222Y	possibly damaging	Het
Olfr630	G	T	7: 103,755,168	T139K	probably damaging	Het
Olfr655	A	G	7: 104,596,801	C127R	probably damaging	Het
Olfr750	T	A	14: 51,071,157	I79F	probably damaging	Het
Orc1	T	A	4: 108,612,217	I746N	probably damaging	Het
Pbxip1	A	G	3: 89,445,488	D147G	probably damaging	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plin5	T	A	17: 56,112,186	D412V	probably damaging	Het
Plxna2	A	T	1: 194,644,700	Y314F	possibly damaging	Het
Ppid	A	T	3: 79,602,299	K308*	probably null	Het
Prss38	T	C	11: 59,373,484	Y219C	probably damaging	Het
Ptx3	C	T	3: 66,224,621	R188C	probably damaging	Het
Rere	T	C	4: 150,616,873	Y1237H	probably damaging	Het
Rpp30	C	T	19: 36,089,149	S94L	probably damaging	Het
Rrp15	C	T	1: 186,736,205	V205I	possibly damaging	Het
Scpep1	A	G	11: 88,952,414	W73R	probably damaging	Het
Sec23ip	A	G	7: 128,755,353	H376R	probably damaging	Het
Serping1	G	T	2: 84,765,728	T454K	probably damaging	Het
Shtn1	T	G	19: 58,975,038	Y615S	probably benign	Het
Slc20a2	C	A	8: 22,545,537	P184T	probably damaging	Het
Slc22a29	C	A	19: 8,218,408	R89L	probably damaging	Het
Slc2a2	A	G	3: 28,719,485	Q313R	probably damaging	Het
Tas2r122	A	T	6: 132,711,194	Y245*	probably null	Het
Ticrr	C	A	7: 79,694,735	C1449*	probably null	Het
Tmem181a	T	C	17: 6,303,226	V412A	probably benign	Het
Tmtc4	T	A	14: 122,927,599	E616V	probably benign	Het
Tnrc6b	A	G	15: 80,880,439	K714R	probably damaging	Het
Trpm8	T	A	1: 88,332,748		probably null	Het
Ubr2	T	C	17: 46,954,919	T1163A	probably benign	Het
Ubr4	A	G	4: 139,451,244		probably null	Het
Ulk2	A	T	11: 61,819,471		probably null	Het
Ulk4	T	A	9: 121,257,116	M350L	probably benign	Het
Vmn1r185	T	C	7: 26,611,531	E183G	probably benign	Het
Vmn1r76	T	A	7: 11,930,514	I223F	probably damaging	Het
Wdr27	T	C	17: 14,934,599	T19A	possibly damaging	Het
Wdr59	T	G	8: 111,450,903	T973P	possibly damaging	Het
Wnk2	A	G	13: 49,039,011	S664P	probably damaging	Het
Zfp120	A	T	2: 150,117,398	C335S	probably damaging	Het
Zfp30	C	A	7: 29,792,452	Q44K	probably benign	Het
Zfp541	T	C	7: 16,079,071	S550P	probably benign	Het
Zw10	C	A	9: 49,068,833	N421K	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
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
X0028:Ralgds	UTSW	2	28548699	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTAAGTATCTCGTGCTTGCAC -3'
(R):5'- TGGAAGTTGGCCAAAAGCTTTC -3'

Sequencing Primer
(F):5'- TCGTGCTTGCACACAGC -3'
(R):5'- TTGGCCAAAAGCTTTCAGTGAG -3'

Posted On

2014-08-25