Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03377:Ralgps1'

420517

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, RALGEF2, 5830418G11Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03377

Quality Score

Status

Chromosome

Chromosomal Location

33023429-33261498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33062473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 267 (Y267H)

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: Y250H

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

SMART Domains

Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: Y250H

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: Y267H

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

SMART Domains

Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: Y267H

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 damaging
Transcript: ENSMUST00000113165
AA Change: Y267H

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

SMART Domains

Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: Y267H

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: Y267H

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

SMART Domains

Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: Y267H

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,096,256 (GRCm39)	I489L	probably benign	Het
Acox3	T	C	5: 35,751,676 (GRCm39)	L237P	probably damaging	Het
Ahi1	T	G	10: 20,893,903 (GRCm39)	I878S	possibly damaging	Het
Alox15	T	A	11: 70,240,488 (GRCm39)	Y231F	probably damaging	Het
Asxl1	A	T	2: 153,238,700 (GRCm39)	K342M	probably damaging	Het
Atl2	T	C	17: 80,172,519 (GRCm39)	I150M	probably damaging	Het
Bag6	T	C	17: 35,363,958 (GRCm39)	Y822H	probably damaging	Het
Ccdc171	T	C	4: 83,581,754 (GRCm39)	Y628H	probably damaging	Het
Ceacam5	T	A	7: 17,449,056 (GRCm39)	Y141N	probably benign	Het
Ces1a	A	G	8: 93,766,116 (GRCm39)	V166A	probably damaging	Het
Chrdl2	G	A	7: 99,671,259 (GRCm39)	A126T	probably benign	Het
Cyp2d26	T	C	15: 82,674,755 (GRCm39)	E409G	possibly damaging	Het
Dicer1	T	C	12: 104,678,456 (GRCm39)	I621V	probably damaging	Het
Enpp1	T	A	10: 24,536,181 (GRCm39)		probably null	Het
Epha2	T	A	4: 141,049,723 (GRCm39)	S776R	probably benign	Het
Fam107b	A	T	2: 3,779,481 (GRCm39)	E52V	probably damaging	Het
Fam169a	A	G	13: 97,228,381 (GRCm39)	N18S	probably benign	Het
Fbxw21	A	T	9: 108,968,597 (GRCm39)	F460I	probably benign	Het
Fgfr2	A	T	7: 129,800,247 (GRCm39)	I329N	probably damaging	Het
Fndc7	T	C	3: 108,783,848 (GRCm39)	S254G	probably benign	Het
Glis1	T	G	4: 107,489,478 (GRCm39)	H688Q	probably damaging	Het
Grip1	A	G	10: 119,890,937 (GRCm39)	E898G	probably damaging	Het
Gtf2a1l	T	A	17: 89,019,021 (GRCm39)	D368E	probably benign	Het
Gucy1a1	T	A	3: 82,013,322 (GRCm39)	H440L	probably damaging	Het
H2-M10.5	A	T	17: 37,084,377 (GRCm39)	D113V	probably benign	Het
Hook2	G	T	8: 85,727,964 (GRCm39)	E554*	probably null	Het
Itpr2	T	A	6: 146,231,256 (GRCm39)	T1135S	probably benign	Het
Itpr2	A	C	6: 146,231,213 (GRCm39)	V1182G	probably damaging	Het
Kdm4c	T	C	4: 74,189,492 (GRCm39)	I69T	possibly damaging	Het
Klhl31	A	T	9: 77,558,345 (GRCm39)	K354*	probably null	Het
Krt222	T	A	11: 99,127,339 (GRCm39)	K159*	probably null	Het
Loxhd1	A	G	18: 77,529,369 (GRCm39)	E2004G	possibly damaging	Het
Man2a2	A	T	7: 80,008,800 (GRCm39)		probably null	Het
Med24	A	G	11: 98,595,962 (GRCm39)	F963L	possibly damaging	Het
Mphosph8	A	G	14: 56,930,943 (GRCm39)	E744G	probably damaging	Het
Mypn	A	G	10: 63,028,644 (GRCm39)	S140P	probably benign	Het
Npc1	A	G	18: 12,344,878 (GRCm39)	F331L	probably benign	Het
Obscn	C	A	11: 58,890,699 (GRCm39)	G1798W	probably damaging	Het
Or5d18	A	T	2: 87,864,589 (GRCm39)	V298D	probably damaging	Het
Patj	C	T	4: 98,353,341 (GRCm39)	P110L	probably damaging	Het
Pkhd1l1	T	G	15: 44,347,747 (GRCm39)		probably null	Het
Prdm5	A	G	6: 65,836,457 (GRCm39)	H256R	possibly damaging	Het
Rfpl4	T	G	7: 5,113,464 (GRCm39)	Y239S	probably damaging	Het
Rnpepl1	A	T	1: 92,846,953 (GRCm39)	M592L	probably benign	Het
Serpinc1	A	T	1: 160,821,012 (GRCm39)	H32L	probably damaging	Het
Skint5	T	A	4: 113,620,735 (GRCm39)	T660S	unknown	Het
Slc26a2	T	C	18: 61,331,658 (GRCm39)	N591S	probably damaging	Het
Slc9b2	C	T	3: 135,042,119 (GRCm39)	A466V	probably damaging	Het
Slco1a5	T	A	6: 142,180,492 (GRCm39)	T637S	probably benign	Het
Snx25	A	G	8: 46,533,338 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,259,594 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,817 (GRCm39)	M207V	possibly damaging	Het
Wdcp	T	G	12: 4,900,691 (GRCm39)	Y182*	probably null	Het
Zc3h13	A	G	14: 75,531,416 (GRCm39)	T105A	possibly damaging	Het
Zfp933	T	C	4: 147,913,168 (GRCm39)	K30R	possibly damaging	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
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
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

Posted On

2016-08-02