Mutagenetix > Incidental Mutations

Incidental Mutation 'R4741:Ralgps1'

358061

Institutional Source

Beutler Lab

Gene Symbol

Ralgps1

Ensembl Gene

ENSMUSG00000038831

Gene Name

Ral GEF with PH domain and SH3 binding motif 1

Synonyms

RALGPS1A, 5830418G11Rik, RALGEF2

MMRRC Submission

042026-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R4741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33133417-33371486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33336587 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 31 (S31G)

Ref Sequence

ENSEMBL: ENSMUSP00000118363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042615] [ENSMUST00000091039] [ENSMUST00000113165] [ENSMUST00000131298]

Predicted Effect

probably benign
Transcript: ENSMUST00000042615
AA Change: S31G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: S31G

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
RasGEF	46	273	4.59e-86	SMART
low complexity region	286	301	N/A	INTRINSIC
PH	372	485	1.87e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091039
AA Change: S31G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: S31G

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
RasGEF	46	290	7.54e-105	SMART
low complexity region	303	318	N/A	INTRINSIC
low complexity region	397	411	N/A	INTRINSIC
PH	460	573	1.87e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113164

SMART Domains

Protein: ENSMUSP00000108789
Gene: ENSMUSG00000038831

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
RasGEF	46	242	1.49e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113165
AA Change: S31G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: S31G

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
RasGEF	46	290	7.54e-105	SMART
low complexity region	303	318	N/A	INTRINSIC
low complexity region	397	411	N/A	INTRINSIC
PH	459	572	1.87e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131298
AA Change: S31G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: S31G

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
RasGEF	46	290	7.54e-105	SMART
low complexity region	303	318	N/A	INTRINSIC
PH	390	503	1.87e-13	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

MGI Phenotype

NO_PHENOTYPE,When fed a high-fat diet, mice homozygous for a knock-out allele show decreased weight gain, reduced adipocity, a lower respiratory quotient, reduced inflammation in adipose tissues, enhanced glucose tolerance, and increased insulin sensitivity in both skeletal muscle and liver relative to controls.

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,942,375	T1079A	probably damaging	Het
Angptl2	T	C	2: 33,246,188	Y462H	probably benign	Het
Arhgef12	A	G	9: 42,972,153	I1360T	possibly damaging	Het
Armc10	T	G	5: 21,651,836	L111R	probably damaging	Het
Atm	T	C	9: 53,453,607	K2628E	probably benign	Het
Best3	A	T	10: 117,023,996	N387I	probably benign	Het
Brpf3	T	C	17: 28,817,784	F721S	possibly damaging	Het
Cacna1c	A	G	6: 118,613,310	S1411P	probably damaging	Het
Cldn8	G	A	16: 88,562,408	H210Y	probably benign	Het
Clip2	T	A	5: 134,516,269	T344S	probably benign	Het
Csmd1	A	C	8: 15,910,447	W3323G	probably damaging	Het
Doc2a	A	T	7: 126,851,445	T298S	possibly damaging	Het
Dpp9	T	C	17: 56,205,286	N234S	probably benign	Het
Dtx2	C	T	5: 136,026,517	R353C	probably benign	Het
Epm2aip1	A	G	9: 111,272,613	H218R	probably benign	Het
F2rl1	G	A	13: 95,514,143	T77M	probably damaging	Het
Fsd2	A	G	7: 81,551,895		probably null	Het
Grin2a	T	C	16: 9,663,512	Y475C	probably damaging	Het
H2-Ob	T	A	17: 34,242,571	S95T	possibly damaging	Het
Hddc3	A	G	7: 80,345,716	T160A	probably benign	Het
Hp	A	T	8: 109,575,472	C281*	probably null	Het
Ighg1	T	C	12: 113,326,558		probably benign	Het
Ints7	A	G	1: 191,619,635	I819V	probably benign	Het
Jam2	G	A	16: 84,812,952	V151M	probably damaging	Het
Jmjd1c	A	G	10: 67,224,939	I737V	possibly damaging	Het
Krt74	C	T	15: 101,761,441		noncoding transcript	Het
Lnpep	T	C	17: 17,571,658	Y407C	probably damaging	Het
Lrp4	T	G	2: 91,511,567	C1842G	probably damaging	Het
Mug2	T	A	6: 122,079,613	N1172K	probably benign	Het
Npy6r	A	T	18: 44,275,724	T71S	probably damaging	Het
Nsd3	A	T	8: 25,673,366	I591F	probably damaging	Het
Oog2	A	C	4: 144,195,145	E208D	possibly damaging	Het
Otogl	A	G	10: 107,779,260	I1928T	probably benign	Het
Papss1	T	C	3: 131,619,099	L418P	probably damaging	Het
Pcdhb13	T	A	18: 37,443,518	D316E	probably benign	Het
Pcdhgb2	T	A	18: 37,691,684		probably null	Het
Ptcd3	T	A	6: 71,902,949	L108F	probably damaging	Het
Rnf225	A	T	7: 12,927,930	H12L	probably benign	Het
Ryr3	T	A	2: 112,803,268	M2047L	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Serpinb3b	G	T	1: 107,154,470	Q355K	probably benign	Het
Slc8a2	T	A	7: 16,134,308	F155Y	probably damaging	Het
Taf1c	A	G	8: 119,603,395		probably benign	Het
Tln2	A	G	9: 67,386,555		probably null	Het
Tmpo	A	G	10: 91,162,644	V427A	probably benign	Het
Vmn1r17	A	T	6: 57,361,352	Y9*	probably null	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfand5	C	T	19: 21,276,481	T16I	probably damaging	Het
Zfp352	A	T	4: 90,224,940	K439M	possibly damaging	Het
Zfp786	G	A	6: 47,820,691	H438Y	probably damaging	Het
Zfp808	T	A	13: 62,171,949	C331S	probably damaging	Het

Other mutations in Ralgps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Ralgps1	APN	2	33137682	makesense	probably null
IGL00780:Ralgps1	APN	2	33273627	missense	probably damaging	1.00
IGL00951:Ralgps1	APN	2	33273602	missense	probably damaging	1.00
IGL01358:Ralgps1	APN	2	33143049	missense	possibly damaging	0.62
IGL02346:Ralgps1	APN	2	33157770	critical splice donor site	probably null
IGL02481:Ralgps1	APN	2	33340729	missense	probably benign	0.04
IGL03281:Ralgps1	APN	2	33172416	critical splice donor site	probably null
IGL03284:Ralgps1	APN	2	33146565	splice site	probably benign
IGL03377:Ralgps1	APN	2	33172461	missense	probably damaging	1.00
R0007:Ralgps1	UTSW	2	33143389	missense	probably damaging	0.97
R0029:Ralgps1	UTSW	2	33141019	missense	probably benign
R0309:Ralgps1	UTSW	2	33157923	missense	probably benign
R0320:Ralgps1	UTSW	2	33141015	missense	possibly damaging	0.59
R0622:Ralgps1	UTSW	2	33174447	nonsense	probably null
R1277:Ralgps1	UTSW	2	33174425	missense	possibly damaging	0.51
R1797:Ralgps1	UTSW	2	33340711	critical splice donor site	probably null
R2921:Ralgps1	UTSW	2	33143070	missense	probably damaging	0.99
R3123:Ralgps1	UTSW	2	33158956	missense	possibly damaging	0.81
R3124:Ralgps1	UTSW	2	33158956	missense	possibly damaging	0.81
R4894:Ralgps1	UTSW	2	33143103	missense	possibly damaging	0.71
R5148:Ralgps1	UTSW	2	33158987	missense	probably damaging	1.00
R5255:Ralgps1	UTSW	2	33276159	missense	probably damaging	1.00
R5877:Ralgps1	UTSW	2	33243628	unclassified	probably benign
R6330:Ralgps1	UTSW	2	33174443	missense	probably damaging	1.00
R6908:Ralgps1	UTSW	2	33143100	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GCTCTCCTACTGTGTACACATG -3'
(R):5'- GTAGACACCTTTCAACATGCCC -3'

Sequencing Primer
(F):5'- ACTGTGTACACATGTGGCATTC -3'
(R):5'- GCCTTTGGTCAGAGACATAGAACTC -3'

Posted On

2015-11-11