Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Ralgps1'

377464

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33023429-33261498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33033115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 498 (V498A)

Ref Sequence

ENSEMBL: ENSMUSP00000108790 (fasta)

Gene Model

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

AlphaFold

A2AR50

Predicted Effect

probably benign
Transcript: ENSMUST00000042615
AA Change: V438A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: V438A

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: V526A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: V526A

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

possibly damaging
Transcript: ENSMUST00000113165
AA Change: V498A

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: V498A

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: V456A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: V456A

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: ENSMUST00000138704

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,609,975 (GRCm39)	Y176*	probably null	Het
Akap13	T	A	7: 75,375,068 (GRCm39)	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,585,332 (GRCm39)	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,891,183 (GRCm39)		probably null	Het
Cacna1e	G	T	1: 154,364,551 (GRCm39)	S341*	probably null	Het
Camk1d	G	A	2: 5,359,539 (GRCm39)	S161L	probably damaging	Het
Cdh23	G	T	10: 60,173,630 (GRCm39)	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629 (GRCm39)	I1276N	probably damaging	Het
Clca3a1	A	G	3: 144,719,662 (GRCm39)	V436A	probably damaging	Het
Ctcfl	G	A	2: 172,959,196 (GRCm39)	P177S	probably benign	Het
Dab2ip	A	G	2: 35,620,539 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011 (GRCm39)	S495R	probably benign	Het
Espl1	A	G	15: 102,230,758 (GRCm39)		probably null	Het
Eya4	T	C	10: 22,985,753 (GRCm39)	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,565,913 (GRCm39)	T554R	probably benign	Het
Fbh1	A	T	2: 11,767,771 (GRCm39)	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,490,751 (GRCm39)	C1023R	probably damaging	Het
Helz2	G	C	2: 180,877,940 (GRCm39)	P953A	probably benign	Het
Ifi204	G	T	1: 173,587,808 (GRCm39)	S117Y	probably damaging	Het
Ift70a1	T	C	2: 75,810,088 (GRCm39)	*665W	probably null	Het
Igfn1	G	A	1: 135,882,520 (GRCm39)	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,325,634 (GRCm39)	T1101A	probably benign	Het
Ipo13	A	C	4: 117,760,638 (GRCm39)	I614S	probably damaging	Het
Ipo13	A	G	4: 117,761,687 (GRCm39)	I476T	possibly damaging	Het
Kdm2b	C	A	5: 123,079,030 (GRCm39)	E308*	probably null	Het
Klhl20	A	T	1: 160,937,102 (GRCm39)	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,030,151 (GRCm39)	F64L	probably benign	Het
Ldlrad3	C	T	2: 101,888,293 (GRCm39)	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,915,530 (GRCm39)	T161A	probably benign	Het
Lrriq1	A	T	10: 102,997,613 (GRCm39)	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,473,268 (GRCm39)	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,468,856 (GRCm39)	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877 (GRCm39)	S651A	probably damaging	Het
Or10ak13	A	T	4: 118,639,483 (GRCm39)	C100S	probably damaging	Het
Or2w6	T	C	13: 21,843,352 (GRCm39)	N47S	probably damaging	Het
Or4c109	T	C	2: 88,817,783 (GRCm39)	I254M	possibly damaging	Het
Rag2	T	C	2: 101,460,022 (GRCm39)	S111P	probably damaging	Het
Rai1	T	A	11: 60,077,572 (GRCm39)	D545E	probably damaging	Het
Rasal2	G	A	1: 157,020,374 (GRCm39)	S205L	probably damaging	Het
Rec8	T	C	14: 55,862,787 (GRCm39)	L582P	probably damaging	Het
Retn	G	A	8: 3,707,358 (GRCm39)	R106H	probably damaging	Het
Rnf112	A	G	11: 61,343,488 (GRCm39)	L116P	probably damaging	Het
Rnf213	T	C	11: 119,372,066 (GRCm39)	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,411,409 (GRCm39)	I399M	probably benign	Het
Sez6	G	T	11: 77,866,086 (GRCm39)	G738V	probably damaging	Het
Spata17	A	G	1: 186,872,643 (GRCm39)	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,849,542 (GRCm39)	V862D	probably damaging	Het
Sptb	A	G	12: 76,671,768 (GRCm39)		probably null	Het
Srpk2	C	A	5: 23,750,527 (GRCm39)	G59W	probably damaging	Het
Tyro3	T	C	2: 119,632,779 (GRCm39)	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,452,280 (GRCm39)	S108P	probably damaging	Het
Usp2	C	T	9: 43,987,125 (GRCm39)	S141L	probably benign	Het
Vamp5	T	C	6: 72,347,181 (GRCm39)	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,903,310 (GRCm39)	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,454,829 (GRCm39)	S490N	probably benign	Het
Vps39	A	T	2: 120,183,440 (GRCm39)	I10N	probably damaging	Het
Vwf	C	T	6: 125,622,897 (GRCm39)	Q1755*	probably null	Het
Wdfy4	A	T	14: 32,877,717 (GRCm39)	H82Q	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,117,843 (GRCm39)	T852A	probably benign	Het
Zfp1	T	A	8: 112,396,355 (GRCm39)	C92*	probably null	Het
Zfp1004	T	A	2: 150,033,899 (GRCm39)	C104*	probably null	Het
Zfp426	A	T	9: 20,386,369 (GRCm39)		probably benign	Het
Zfp442	C	T	2: 150,253,130 (GRCm39)		probably null	Het
Zfp74	T	C	7: 29,635,470 (GRCm39)		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
R0622:Ralgps1	UTSW	2	33,064,459 (GRCm39)	nonsense	probably null
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
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'- AAGAAGACTGGGTGCCATGC -3'
(R):5'- AAGTCTTTGCGGGGTACAG -3'

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

Posted On

2016-03-17