Mutagenetix > Incidental Mutation

Incidental Mutation 'R5255:Ralgps1'

399445

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

042826-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R5255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33133417-33371486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33276159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 126 (V126E)

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: V109E

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

SMART Domains

Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: V109E

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: V126E

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

SMART Domains

Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: V126E

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: V126E

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

SMART Domains

Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: V126E

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: V126E

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

SMART Domains

Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: V126E

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	T	17: 33,066,765	C354*	probably null	Het
Abcf1	A	T	17: 35,959,737		probably null	Het
Abr	T	A	11: 76,455,683	E434V	probably damaging	Het
Acaca	T	A	11: 84,311,307	L197Q	probably damaging	Het
Acot10	A	G	15: 20,665,932	I241T	probably benign	Het
Acp6	T	C	3: 97,167,996	V182A	probably benign	Het
Ahnak2	G	A	12: 112,773,378	T1420I	possibly damaging	Het
Akr1c6	A	T	13: 4,447,019	K153N	probably benign	Het
Ank3	T	C	10: 69,885,200	L600P	probably damaging	Het
Arhgef1	G	A	7: 24,925,022	A824T	probably damaging	Het
B230307C23Rik	T	A	16: 98,008,691	N22K	possibly damaging	Het
Btn1a1	A	G	13: 23,464,154		probably benign	Het
Cenpf	G	A	1: 189,672,627	T352I	possibly damaging	Het
Ces4a	C	A	8: 105,142,489	F185L	probably benign	Het
Clybl	A	C	14: 122,384,279	E293A	probably benign	Het
Cobl	A	G	11: 12,375,825	W217R	probably damaging	Het
D430041D05Rik	T	C	2: 104,256,600	N677S	probably benign	Het
Ddx51	C	A	5: 110,656,042	T390N	possibly damaging	Het
Drd5	T	G	5: 38,319,967	V101G	probably damaging	Het
Elmo3	C	T	8: 105,307,353	P244L	probably benign	Het
Esrrg	G	A	1: 188,146,358	R189H	probably damaging	Het
Fxr2	A	G	11: 69,643,841	T183A	probably benign	Het
Gjd4	T	C	18: 9,280,613	H155R	probably benign	Het
Hivep2	T	A	10: 14,131,267		probably null	Het
Ints10	T	C	8: 68,793,972		probably benign	Het
Kank4	T	C	4: 98,778,972	T413A	probably benign	Het
Mapkbp1	T	C	2: 120,017,254	V568A	probably damaging	Het
Mobp	A	G	9: 120,168,353		probably benign	Het
Mpst	A	G	15: 78,410,508	S147G	probably benign	Het
Myo5b	A	T	18: 74,662,670	Y559F	possibly damaging	Het
Nceh1	T	C	3: 27,183,139	I21T	probably damaging	Het
Olfr1303	T	C	2: 111,814,178	K183E	probably benign	Het
Rnls	A	G	19: 33,382,423	V115A	probably damaging	Het
Scn1a	A	T	2: 66,277,669	V1554D	probably damaging	Het
Slc16a11	T	A	11: 70,215,432	D165E	probably damaging	Het
Slc16a5	A	G	11: 115,462,675	T23A	probably benign	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc3a1	A	T	17: 85,028,453		probably null	Het
Slitrk6	A	T	14: 110,749,753	*841K	probably null	Het
Syngr1	A	G	15: 80,091,446	Y18C	possibly damaging	Het
Tarbp1	T	G	8: 126,428,970	D1343A	probably benign	Het
Vac14	T	A	8: 110,634,329	I177N	probably damaging	Het
Vmn1r218	A	T	13: 23,136,711	D76V	possibly damaging	Het
Wdr75	T	A	1: 45,799,117	I62N	probably damaging	Het
Zfp12	A	T	5: 143,240,379	I68L	probably null	Het
Zswim8	T	A	14: 20,721,651	Y1551N	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCACAGAAGGCACTAGCAG -3'
(R):5'- TTCATGTGACATTAGGCCATGC -3'

Sequencing Primer
(F):5'- AGCCAGGTAGAGCTCACATCTG -3'
(R):5'- GTGACATTAGGCCATGCTCTCAAAG -3'

Posted On

2016-07-06