Mutagenetix > Incidental Mutations

Incidental Mutation 'R6137:Ralgds'

526348

Institutional Source

Beutler Lab

Gene Symbol

Ralgds

Ensembl Gene

ENSMUSG00000026821

Gene Name

ral guanine nucleotide dissociation stimulator

Synonyms

RalGDS, Gnds, Rgds

MMRRC Submission

044284-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 #

R6137 (G1)

Quality Score

78.0075

Status

Validated

Chromosome

Chromosomal Location

28513125-28553081 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28547588 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 514 (M514L)

Ref Sequence

ENSEMBL: ENSMUSP00000028170 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028170
AA Change: M514L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: M514L

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: M569L

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: M569L

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: M557L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: M557L

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092M07Rik	A	T	19: 8,740,784	D6V	probably damaging	Het
2310057M21Rik	G	T	7: 131,357,613	H165Q	probably damaging	Het
Akap13	T	A	7: 75,677,416	F721Y	probably damaging	Het
Akap6	A	T	12: 53,140,354	D1517V	probably damaging	Het
Amigo3	T	A	9: 108,053,728	S117T	probably damaging	Het
Atf7ip2	T	A	16: 10,201,411	N34K	probably damaging	Het
Cacnb1	A	C	11: 98,005,782	V351G	probably damaging	Het
Casp9	T	A	4: 141,805,349		probably null	Het
Ccdc51	C	T	9: 109,089,415	T24I	probably benign	Het
Cdh23	T	A	10: 60,434,512	Y618F	probably damaging	Het
Chd1	T	A	17: 15,758,688	W1271R	probably damaging	Het
Dars	T	C	1: 128,368,439	T386A	probably benign	Het
Dchs1	T	A	7: 105,765,106	D834V	probably damaging	Het
Dgkd	T	A	1: 87,936,381	V933E	possibly damaging	Het
Dnah17	A	G	11: 118,025,654	F4203S	probably damaging	Het
Fancm	T	C	12: 65,130,382	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,008,669	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,276,222	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,559,206	S237P	probably damaging	Het
Frem3	T	C	8: 80,615,047	I1323T	probably benign	Het
Grin2a	A	G	16: 9,653,449	F652L	probably benign	Het
Grin2b	T	A	6: 135,923,458	M142L	possibly damaging	Het
Helz	A	G	11: 107,619,060	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,859,295	Y69H	probably benign	Het
Il17ra	A	G	6: 120,475,582	N242S	probably benign	Het
Immp1l	G	C	2: 105,964,208	G117A	probably damaging	Het
Itm2c	T	C	1: 85,894,692	V10A	probably benign	Het
Kif1b	T	C	4: 149,238,426	K679E	possibly damaging	Het
Kng1	T	C	16: 23,074,645	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,166,153	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,598,793	F621S	probably damaging	Het
Lpl	T	A	8: 68,892,747	D134E	probably damaging	Het
Lypd3	T	C	7: 24,640,494	Y329H	probably benign	Het
Mettl13	T	C	1: 162,535,886	D225G	probably benign	Het
Myo7b	A	G	18: 31,999,974	F441L	probably damaging	Het
Nnt	T	A	13: 119,336,328	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,191,851	M144K	probably damaging	Het
Olfr1040	A	G	2: 86,145,969	V255A	probably benign	Het
Olfr1347	T	C	7: 6,488,845	T3A	probably benign	Het
Olfr325	A	T	11: 58,581,068	M75L	probably benign	Het
Pappa2	A	T	1: 158,871,543	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,238,888	I155V	probably benign	Het
Ptgs2	T	A	1: 150,100,993	N24K	probably benign	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,569,005	V254D	probably damaging	Het
Selenot	A	T	3: 58,585,284	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,850,851	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,542,724	V10A	probably benign	Het
Spem2	G	T	11: 69,816,696	S481*	probably null	Het
Styk1	C	T	6: 131,311,016	G128D	probably damaging	Het
Tmc6	A	T	11: 117,776,328	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,574,835		probably null	Het
Tnpo3	A	G	6: 29,555,268	V772A	probably benign	Het
Topaz1	T	C	9: 122,797,756	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,216,055	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,849,016	I129T	probably benign	Het
Wwc2	A	T	8: 47,856,263	M828K	unknown	Het
Zfp236	A	T	18: 82,671,794	S187T	possibly 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
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'- AGCAAAGGTTCTTGAGCTGC -3'
(R):5'- CCACATGCTGTCTGACCTTG -3'

Sequencing Primer
(F):5'- CAAAGGTTCTTGAGCTGCTCTAAG -3'
(R):5'- ATGCATGTCTAGTTTGGCCAAC -3'

Posted On

2018-06-25