Mutagenetix > Incidental Mutation

Incidental Mutation 'R0622:Ralgps1'

58705

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

038811-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R0622 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

33133417-33371486 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 33174447 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 238 (R238*)

Ref Sequence

ENSEMBL: ENSMUSP00000118363 (fasta)

Gene Model

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

AlphaFold

A2AR50

Predicted Effect

probably null
Transcript: ENSMUST00000042615
AA Change: R221*

SMART Domains

Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: R221*

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 null
Transcript: ENSMUST00000091039
AA Change: R238*

SMART Domains

Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: R238*

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 null
Transcript: ENSMUST00000113165
AA Change: R238*

SMART Domains

Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: R238*

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 null
Transcript: ENSMUST00000131298
AA Change: R238*

SMART Domains

Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: R238*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139288

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	T	A	13: 30,381,681	M243K	probably benign	Het
Ap1b1	A	G	11: 5,037,707	M744V	probably damaging	Het
C87977	T	C	4: 144,213,013		probably benign	Het
Ccdc152	T	C	15: 3,298,178	N39S	probably damaging	Het
Cd163	G	A	6: 124,317,352	V490M	probably damaging	Het
Col6a5	G	T	9: 105,925,852	H1305N	unknown	Het
Cpb1	C	A	3: 20,249,818	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,763,449	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,994,236	F83L	probably damaging	Het
Dsg4	T	A	18: 20,449,788	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,327,536	D15G	probably damaging	Het
F3	A	T	3: 121,725,019	D44V	probably damaging	Het
Fat2	A	T	11: 55,283,128	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,379,024	D650G	possibly damaging	Het
Gramd4	T	A	15: 86,091,389	F36I	probably damaging	Het
Grm7	G	A	6: 111,358,496	A623T	probably damaging	Het
Gys1	A	T	7: 45,439,995	T193S	probably damaging	Het
Hectd4	A	G	5: 121,348,625	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,573,980	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,837,289		probably null	Het
Klhl29	A	G	12: 5,081,224	L852P	probably damaging	Het
Lrch1	T	C	14: 74,796,051	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,728,551		probably null	Het
Mcpt4	C	A	14: 56,060,662	R144L	probably benign	Het
Mia2	C	T	12: 59,131,578	R12W	probably damaging	Het
Mrps5	A	G	2: 127,594,531	K116R	probably benign	Het
Myrf	G	A	19: 10,223,452	P286S	probably damaging	Het
Nanp	A	G	2: 151,039,244	M28T	probably benign	Het
Neb	T	C	2: 52,212,951	I4472V	probably benign	Het
Nfix	A	C	8: 84,726,482	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,953,968	R849Q	probably benign	Het
Nup210l	G	A	3: 90,167,740	V786M	probably damaging	Het
Olfr1346	T	C	7: 6,474,599	I163T	possibly damaging	Het
Olfr314	T	C	11: 58,786,341	S36P	probably damaging	Het
Olfr600	A	G	7: 103,346,857	S24P	probably damaging	Het
Olfr898	A	G	9: 38,349,371	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,806,518	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,715,852	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,436,552	E116G	probably damaging	Het
Polq	T	C	16: 37,060,993	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,125,119	R423H	probably damaging	Het
Prkag2	T	C	5: 24,869,249	N246S	probably damaging	Het
Proser1	A	G	3: 53,477,860	S388G	probably benign	Het
Rfx2	T	C	17: 56,777,071	D657G	probably damaging	Het
Ryr3	A	G	2: 112,662,555	F3724S	probably damaging	Het
Sh2d5	T	C	4: 138,259,228	S421P	probably damaging	Het
Slc17a2	C	A	13: 23,812,611	T33K	probably damaging	Het
St8sia5	A	G	18: 77,246,113	T156A	probably damaging	Het
Stk32c	T	C	7: 139,188,110	D85G	probably benign	Het
Tnks	A	G	8: 34,940,822	S251P	probably damaging	Het
Tnxb	T	A	17: 34,718,729	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,346,604	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 12,041,388	F30L	probably benign	Het
Wasf3	A	G	5: 146,466,792		probably null	Het
Wdr90	C	T	17: 25,855,658	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,601,107	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123	Q140*	probably null	Het
Zfp677	C	T	17: 21,397,700	L340F	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GGACGTGCCACTCACTAGACAATC -3'
(R):5'- TTTATGCCTTCGTGCCCAGGAGAC -3'

Sequencing Primer
(F):5'- CAAGTTGTTCCGCATGTACCTAAG -3'
(R):5'- TGCCCAGGAGACTGTTTAAC -3'

Posted On

2013-07-11