Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00780:Ralgps1'

13741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ralgps1

Ensembl Gene

ENSMUSG00000038831

Gene Name

Ral GEF with PH domain and SH3 binding motif 1

Synonyms

RALGPS1A, 5830418G11Rik, RALGEF2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

33133417-33371486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33273627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 139 (H139Q)

Ref Sequence

ENSEMBL: ENSMUSP00000118363 (fasta)

Gene Model

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

AlphaFold

A2AR50

Predicted Effect

probably damaging
Transcript: ENSMUST00000042615
AA Change: H122Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: H122Q

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 damaging
Transcript: ENSMUST00000091039
AA Change: H139Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: H139Q

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 damaging
Transcript: ENSMUST00000113165
AA Change: H139Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: H139Q

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 damaging
Transcript: ENSMUST00000131298
AA Change: H139Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: H139Q

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,422,367	T355A	probably damaging	Het
Abi3bp	A	G	16: 56,602,805	D440G	probably null	Het
Acvrl1	T	A	15: 101,137,367	F258Y	probably damaging	Het
Ano1	A	G	7: 144,655,630	S278P	probably damaging	Het
AW146154	T	C	7: 41,480,459	Y411C	probably damaging	Het
Blnk	T	A	19: 40,934,446	K412M	probably benign	Het
Clpb	C	T	7: 101,778,608	R387*	probably null	Het
Dach1	A	T	14: 97,901,422	N528K	possibly damaging	Het
Dag1	A	T	9: 108,209,619	W108R	probably damaging	Het
Fbn2	T	C	18: 58,095,988	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,549,249	D394G	possibly damaging	Het
Gaa	T	A	11: 119,274,291		probably null	Het
Gpr158	A	T	2: 21,826,818	K910*	probably null	Het
Grb14	G	A	2: 64,914,718	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,479,221	D264G	probably benign	Het
Heatr3	A	G	8: 88,170,940	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,569,564	N407S	probably damaging	Het
Htr2a	A	T	14: 74,706,205	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,884,975	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,311,051	T2598I	probably benign	Het
Lcorl	T	C	5: 45,747,295	N137S	probably damaging	Het
Lef1	T	C	3: 131,193,130	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,281,077		probably benign	Het
Med15	G	A	16: 17,653,487	T642I	probably damaging	Het
Nasp	C	A	4: 116,603,999	E274*	probably null	Het
Nup210l	A	T	3: 90,190,849		probably benign	Het
Pgghg	T	C	7: 140,945,351		probably null	Het
Plpp1	A	G	13: 112,851,506	I54M	probably damaging	Het
Poldip3	C	T	15: 83,138,479	G35R	probably damaging	Het
Ppig	A	T	2: 69,732,924	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,680,371	T999K	probably damaging	Het
Rad9b	T	C	5: 122,344,247	I142V	probably benign	Het
Rdh16f2	T	C	10: 127,875,092		probably null	Het
Sema3d	G	A	5: 12,524,326	R265Q	probably damaging	Het
Svs1	A	G	6: 48,987,739	D227G	probably damaging	Het
Tdp1	T	C	12: 99,893,648	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,841,856	D145V	probably benign	Het
Trpc4	C	T	3: 54,302,175	P654S	probably damaging	Het
Yy1	T	G	12: 108,815,537	I376S	probably damaging	Het
Zfp773	T	A	7: 7,133,114	Q161L	probably benign	Het

Other mutations in Ralgps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Ralgps1	APN	2	33137682	makesense	probably null
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
R6908:Ralgps1	UTSW	2	33143100	missense	probably benign	0.17
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
R7973:Ralgps1	UTSW	2	33146639	missense	probably damaging	1.00
R8422:Ralgps1	UTSW	2	33172430	missense	possibly damaging	0.81
R8513:Ralgps1	UTSW	2	33336614	missense	probably damaging	1.00
R8710:Ralgps1	UTSW	2	33145421	missense	probably damaging	0.98
R8733:Ralgps1	UTSW	2	33284824	critical splice donor site	probably null
R8841:Ralgps1	UTSW	2	33155317	missense	probably benign
R9261:Ralgps1	UTSW	2	33336559	missense	probably damaging	1.00
R9728:Ralgps1	UTSW	2	33273614	missense	probably damaging	0.99

Posted On

2012-12-06