Mutagenetix > Incidental Mutations

Incidental Mutation 'R6908:Ralgps1'

538848

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33133417-33371486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33143100 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 439 (Q439R)

Ref Sequence

ENSEMBL: ENSMUSP00000048451 (fasta)

Gene Model

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

PDB Structure

Crystal structure of MS0666 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000042615
AA Change: Q439R

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: Q439R

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: Q527R

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: Q527R

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

probably benign
Transcript: ENSMUST00000113165
AA Change: Q499R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: Q499R

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: Q457R

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: Q457R

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,657,305	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,448,535		probably null	Het
B3glct	T	C	5: 149,696,476		probably null	Het
Bbs9	T	G	9: 22,567,723	I154S	probably damaging	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,791,939		probably null	Het
Celf6	T	C	9: 59,603,823	V349A	probably benign	Het
Chd9	A	G	8: 90,956,416	T495A	probably benign	Het
Cxxc1	G	A	18: 74,220,559	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,859,215	V223A	probably damaging	Het
Dlc1	A	G	8: 36,937,687	F316S	probably benign	Het
Dnajc12	C	A	10: 63,397,325	Q82K	probably benign	Het
Dock8	G	A	19: 25,188,382	E1877K	probably damaging	Het
Epha3	T	G	16: 63,598,249	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,182,439	C220F	probably damaging	Het
Fryl	A	G	5: 73,022,211	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,221,032	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,534	N77D	probably benign	Het
Ints13	A	T	6: 146,555,033	D438E	probably damaging	Het
Itgb6	C	T	2: 60,650,021	V324M	probably benign	Het
Kdm7a	G	T	6: 39,144,439	L861M	possibly damaging	Het
Kirrel3	A	G	9: 35,013,401	T302A	possibly damaging	Het
Lama2	A	T	10: 27,031,196		probably null	Het
Lrp2	A	T	2: 69,472,365	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Mastl	T	C	2: 23,155,976		probably benign	Het
Mcf2l	T	C	8: 13,018,919	V1087A	probably benign	Het
Mcmdc2	C	A	1: 9,930,778		probably null	Het
Ms4a3	A	G	19: 11,638,295	I39T	probably damaging	Het
Mylk	T	G	16: 34,880,273	C495G	probably benign	Het
Myo10	A	G	15: 25,804,383	D1588G	probably damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,217,296	I460V	probably benign	Het
Nmt1	T	G	11: 103,058,254	S312A	possibly damaging	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr710	T	C	7: 106,944,632	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,791,224	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,296,524	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,152,446	I559T	probably damaging	Het
Plec	G	A	15: 76,185,881	Q806*	probably null	Het
Prss51	C	T	14: 64,096,152	A70V	probably benign	Het
Psd3	A	T	8: 67,964,177	I356K	probably benign	Het
Ptprn2	A	T	12: 116,888,888	I522F	probably benign	Het
Rab39	T	C	9: 53,706,069	D16G	probably damaging	Het
Rapgef2	A	T	3: 79,104,063	D238E	probably benign	Het
Ripor2	G	A	13: 24,706,232	G697S	probably damaging	Het
Scn11a	A	T	9: 119,792,426	F642I	probably damaging	Het
Serinc4	G	A	2: 121,453,605	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 127,021,626		probably benign	Het
Slc36a3	T	C	11: 55,149,886		probably benign	Het
Smc1b	A	G	15: 85,107,010	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,352,332	S455P	probably damaging	Het
Ttn	C	A	2: 76,889,858		probably benign	Het
Tyw5	T	C	1: 57,401,523	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,806,230	T97A	possibly 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
R4741:Ralgps1	UTSW	2	33336587	missense	probably benign	0.00
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
R7252:Ralgps1	UTSW	2	33168188	missense	probably benign	0.12
R7299:Ralgps1	UTSW	2	33157873	missense	probably benign
R7366:Ralgps1	UTSW	2	33324688	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AAGAAGACTGGGTGCCATGC -3'
(R):5'- AAGTCTTTGCGGGGTACAGAC -3'

Sequencing Primer
(F):5'- TGGGTGCCATGCAAACCTAG -3'
(R):5'- TAAGTCCTCTGAAAAGGCTGCCTG -3'

Posted On

2018-11-06