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, RALGEF2, 5830418G11Rik

MMRRC Submission

038811-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R0622 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

33023429-33261498 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 33064459 bp (GRCm39)

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: 30,565,664 (GRCm39)	M243K	probably benign	Het
Ap1b1	A	G	11: 4,987,707 (GRCm39)	M744V	probably damaging	Het
Ccdc152	T	C	15: 3,327,660 (GRCm39)	N39S	probably damaging	Het
Cd163	G	A	6: 124,294,311 (GRCm39)	V490M	probably damaging	Het
Col6a5	G	T	9: 105,803,051 (GRCm39)	H1305N	unknown	Het
Cpb1	C	A	3: 20,303,982 (GRCm39)	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,412,656 (GRCm39)	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,721,547 (GRCm39)	F83L	probably damaging	Het
Dsg4	T	A	18: 20,582,845 (GRCm39)	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,211,736 (GRCm39)	D15G	probably damaging	Het
F3	A	T	3: 121,518,668 (GRCm39)	D44V	probably damaging	Het
Fat2	A	T	11: 55,173,954 (GRCm39)	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,220,944 (GRCm39)	D650G	possibly damaging	Het
Gramd4	T	A	15: 85,975,590 (GRCm39)	F36I	probably damaging	Het
Grm7	G	A	6: 111,335,457 (GRCm39)	A623T	probably damaging	Het
Gys1	A	T	7: 45,089,419 (GRCm39)	T193S	probably damaging	Het
Hectd4	A	G	5: 121,486,688 (GRCm39)	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,540,239 (GRCm39)	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,667,633 (GRCm39)		probably null	Het
Klhl29	A	G	12: 5,131,224 (GRCm39)	L852P	probably damaging	Het
Lrch1	T	C	14: 75,033,491 (GRCm39)	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,618,563 (GRCm39)		probably null	Het
Mcpt4	C	A	14: 56,298,119 (GRCm39)	R144L	probably benign	Het
Mia2	C	T	12: 59,178,364 (GRCm39)	R12W	probably damaging	Het
Mrps5	A	G	2: 127,436,451 (GRCm39)	K116R	probably benign	Het
Myrf	G	A	19: 10,200,816 (GRCm39)	P286S	probably damaging	Het
Nanp	A	G	2: 150,881,164 (GRCm39)	M28T	probably benign	Het
Neb	T	C	2: 52,102,963 (GRCm39)	I4472V	probably benign	Het
Nfix	A	C	8: 85,453,111 (GRCm39)	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,771,832 (GRCm39)	R849Q	probably benign	Het
Nup210l	G	A	3: 90,075,047 (GRCm39)	V786M	probably damaging	Het
Or2t44	T	C	11: 58,677,167 (GRCm39)	S36P	probably damaging	Het
Or52ad1	A	G	7: 102,996,064 (GRCm39)	S24P	probably damaging	Het
Or6z5	T	C	7: 6,477,598 (GRCm39)	I163T	possibly damaging	Het
Or8c20	A	G	9: 38,260,667 (GRCm39)	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,783,452 (GRCm39)	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,627,149 (GRCm39)	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,490,701 (GRCm39)	E116G	probably damaging	Het
Polq	T	C	16: 36,881,355 (GRCm39)	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,036,414 (GRCm39)	R423H	probably damaging	Het
Pramel29	T	C	4: 143,939,583 (GRCm39)		probably benign	Het
Prkag2	T	C	5: 25,074,247 (GRCm39)	N246S	probably damaging	Het
Proser1	A	G	3: 53,385,281 (GRCm39)	S388G	probably benign	Het
Rfx2	T	C	17: 57,084,071 (GRCm39)	D657G	probably damaging	Het
Ryr3	A	G	2: 112,492,900 (GRCm39)	F3724S	probably damaging	Het
Sh2d5	T	C	4: 137,986,539 (GRCm39)	S421P	probably damaging	Het
Slc34a1	C	A	13: 23,996,594 (GRCm39)	T33K	probably damaging	Het
St8sia5	A	G	18: 77,333,809 (GRCm39)	T156A	probably damaging	Het
Stk32c	T	C	7: 138,768,026 (GRCm39)	D85G	probably benign	Het
Tnks	A	G	8: 35,407,976 (GRCm39)	S251P	probably damaging	Het
Tnxb	T	A	17: 34,937,703 (GRCm39)	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,393,378 (GRCm39)	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Wasf3	A	G	5: 146,403,602 (GRCm39)		probably null	Het
Wdr90	C	T	17: 26,074,632 (GRCm39)	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,485,310 (GRCm39)	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123 (GRCm39)	Q140*	probably null	Het
Zfp677	C	T	17: 21,617,962 (GRCm39)	L340F	probably benign	Het

Other mutations in Ralgps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Ralgps1	APN	2	33,027,694 (GRCm39)	makesense	probably null
IGL00780:Ralgps1	APN	2	33,163,639 (GRCm39)	missense	probably damaging	1.00
IGL00951:Ralgps1	APN	2	33,163,614 (GRCm39)	missense	probably damaging	1.00
IGL01358:Ralgps1	APN	2	33,033,061 (GRCm39)	missense	possibly damaging	0.62
IGL02346:Ralgps1	APN	2	33,047,782 (GRCm39)	critical splice donor site	probably null
IGL02481:Ralgps1	APN	2	33,230,741 (GRCm39)	missense	probably benign	0.04
IGL03281:Ralgps1	APN	2	33,062,428 (GRCm39)	critical splice donor site	probably null
IGL03284:Ralgps1	APN	2	33,036,577 (GRCm39)	splice site	probably benign
IGL03377:Ralgps1	APN	2	33,062,473 (GRCm39)	missense	probably damaging	1.00
R0007:Ralgps1	UTSW	2	33,033,401 (GRCm39)	missense	probably damaging	0.97
R0029:Ralgps1	UTSW	2	33,031,031 (GRCm39)	missense	probably benign
R0309:Ralgps1	UTSW	2	33,047,935 (GRCm39)	missense	probably benign
R0320:Ralgps1	UTSW	2	33,031,027 (GRCm39)	missense	possibly damaging	0.59
R1277:Ralgps1	UTSW	2	33,064,437 (GRCm39)	missense	possibly damaging	0.51
R1797:Ralgps1	UTSW	2	33,230,723 (GRCm39)	critical splice donor site	probably null
R2921:Ralgps1	UTSW	2	33,033,082 (GRCm39)	missense	probably damaging	0.99
R3123:Ralgps1	UTSW	2	33,048,968 (GRCm39)	missense	possibly damaging	0.81
R3124:Ralgps1	UTSW	2	33,048,968 (GRCm39)	missense	possibly damaging	0.81
R4741:Ralgps1	UTSW	2	33,226,599 (GRCm39)	missense	probably benign	0.00
R4894:Ralgps1	UTSW	2	33,033,115 (GRCm39)	missense	possibly damaging	0.71
R5148:Ralgps1	UTSW	2	33,048,999 (GRCm39)	missense	probably damaging	1.00
R5255:Ralgps1	UTSW	2	33,166,171 (GRCm39)	missense	probably damaging	1.00
R5877:Ralgps1	UTSW	2	33,133,640 (GRCm39)	unclassified	probably benign
R6330:Ralgps1	UTSW	2	33,064,455 (GRCm39)	missense	probably damaging	1.00
R6908:Ralgps1	UTSW	2	33,033,112 (GRCm39)	missense	probably benign	0.17
R7252:Ralgps1	UTSW	2	33,058,200 (GRCm39)	missense	probably benign	0.12
R7299:Ralgps1	UTSW	2	33,047,885 (GRCm39)	missense	probably benign
R7366:Ralgps1	UTSW	2	33,214,700 (GRCm39)	missense	possibly damaging	0.88
R7973:Ralgps1	UTSW	2	33,036,651 (GRCm39)	missense	probably damaging	1.00
R8422:Ralgps1	UTSW	2	33,062,442 (GRCm39)	missense	possibly damaging	0.81
R8513:Ralgps1	UTSW	2	33,226,626 (GRCm39)	missense	probably damaging	1.00
R8710:Ralgps1	UTSW	2	33,035,433 (GRCm39)	missense	probably damaging	0.98
R8733:Ralgps1	UTSW	2	33,174,836 (GRCm39)	critical splice donor site	probably null
R8841:Ralgps1	UTSW	2	33,045,329 (GRCm39)	missense	probably benign
R9261:Ralgps1	UTSW	2	33,226,571 (GRCm39)	missense	probably damaging	1.00
R9728:Ralgps1	UTSW	2	33,163,626 (GRCm39)	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