Mutagenetix > Incidental Mutation

Incidental Mutation 'R1572:Ralgapb'

170820

Institutional Source

Beutler Lab

Gene Symbol

Ralgapb

Ensembl Gene

ENSMUSG00000027652

Gene Name

Ral GTPase activating protein, beta subunit (non-catalytic)

Synonyms

B230339M05Rik

MMRRC Submission

039611-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1572 (G1)

Quality Score

137

Status

Validated

Chromosome

Chromosomal Location

158409848-158499253 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 158446199 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046274] [ENSMUST00000109485] [ENSMUST00000109486] [ENSMUST00000141497]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046274

SMART Domains

Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652

Domain	Start	End	E-Value	Type
low complexity region	166	178	N/A	INTRINSIC
low complexity region	610	625	N/A	INTRINSIC
low complexity region	775	788	N/A	INTRINSIC
low complexity region	910	920	N/A	INTRINSIC
low complexity region	1086	1097	N/A	INTRINSIC
low complexity region	1309	1321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109485

SMART Domains

Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652

Domain	Start	End	E-Value	Type
low complexity region	166	178	N/A	INTRINSIC
low complexity region	622	637	N/A	INTRINSIC
low complexity region	791	804	N/A	INTRINSIC
low complexity region	926	936	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1325	1337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109486

SMART Domains

Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652

Domain	Start	End	E-Value	Type
low complexity region	166	178	N/A	INTRINSIC
low complexity region	610	625	N/A	INTRINSIC
low complexity region	779	792	N/A	INTRINSIC
low complexity region	914	924	N/A	INTRINSIC
low complexity region	1090	1101	N/A	INTRINSIC
low complexity region	1313	1325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141497

SMART Domains

Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652

Domain	Start	End	E-Value	Type
low complexity region	288	303	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC
low complexity region	768	779	N/A	INTRINSIC
low complexity region	991	1003	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173137

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 92.9%
20x: 80.7%

Validation Efficiency

97% (130/134)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	G	A	9: 50,740,673	T85M	probably damaging	Het
5430419D17Rik	T	A	7: 131,244,831	Y777*	probably null	Het
Actn1	A	G	12: 80,172,957		probably benign	Het
Afap1l1	A	T	18: 61,737,499	S603T	probably damaging	Het
Ahcy	T	C	2: 155,068,931	Y39C	probably benign	Het
Ankmy2	T	C	12: 36,186,942		probably null	Het
Anxa13	A	T	15: 58,348,807		noncoding transcript	Het
Aoc1	T	C	6: 48,905,786	S221P	possibly damaging	Het
Arhgef10	C	A	8: 14,991,211	A770D	possibly damaging	Het
Arhgef19	A	G	4: 141,254,754	D707G	probably benign	Het
Arhgef3	G	A	14: 27,401,735	R444H	probably damaging	Het
Asphd1	T	C	7: 126,949,099	I11V	probably benign	Het
Atp2b1	A	G	10: 98,994,675	M333V	probably benign	Het
BC051665	T	C	13: 60,785,027	Y40C	probably damaging	Het
Ccdc87	T	A	19: 4,840,313	S278T	probably benign	Het
Chaf1b	G	A	16: 93,901,230	G463D	possibly damaging	Het
Chrna4	T	C	2: 181,029,307	T219A	possibly damaging	Het
Clcnkb	T	G	4: 141,407,095	T584P	possibly damaging	Het
Clptm1l	T	C	13: 73,607,747	S161P	probably benign	Het
Cmya5	T	C	13: 93,094,269	E1437G	possibly damaging	Het
Col13a1	A	T	10: 61,866,426		probably null	Het
Col3a1	T	C	1: 45,345,968	S82P	possibly damaging	Het
Cpeb3	A	T	19: 37,139,082	M383K	probably benign	Het
Cr2	T	A	1: 195,163,314	H111L	probably damaging	Het
Cttnbp2	T	C	6: 18,375,975	S1522G	possibly damaging	Het
Cul3	T	C	1: 80,282,789	D281G	possibly damaging	Het
Cyp2c70	T	G	19: 40,183,982	K72T	probably benign	Het
Cyp39a1	A	T	17: 43,680,129	I110F	probably damaging	Het
Cyp46a1	T	A	12: 108,351,939	M203K	probably null	Het
Cyp8b1	A	T	9: 121,914,958	V436D	possibly damaging	Het
Ddx17	T	C	15: 79,538,565	D324G	probably damaging	Het
Dopey2	A	G	16: 93,770,153	N1274S	probably damaging	Het
Dscaml1	G	A	9: 45,721,333	V1166I	probably benign	Het
Dsp	T	C	13: 38,195,738	V1554A	probably damaging	Het
Dusp27	C	T	1: 166,099,455	V863M	possibly damaging	Het
Efr3a	T	A	15: 65,854,792		probably null	Het
Egfem1	A	T	3: 29,648,271	N223I	probably benign	Het
Egr2	T	C	10: 67,539,975	S147P	probably damaging	Het
Elmo3	A	G	8: 105,308,301	T408A	probably benign	Het
Flnb	A	G	14: 7,883,908	D378G	probably damaging	Het
Foxj2	T	A	6: 122,833,261	M193K	probably benign	Het
Gm6327	A	G	16: 12,760,156		noncoding transcript	Het
Gm7694	T	C	1: 170,302,766	H21R	probably benign	Het
Gpr107	A	G	2: 31,167,025	D43G	probably damaging	Het
Grid2	T	A	6: 64,429,694	Y679*	probably null	Het
Grin2c	G	A	11: 115,256,074	P432S	possibly damaging	Het
H2-M10.1	A	G	17: 36,325,733	F60L	possibly damaging	Het
Hectd4	A	G	5: 121,301,878	D1147G	possibly damaging	Het
Idua	G	T	5: 108,680,589	A223S	probably benign	Het
Ifi206	T	C	1: 173,486,853	Q7R	probably benign	Het
Itgad	T	A	7: 128,203,234	V986E	probably damaging	Het
Itsn2	G	A	12: 4,650,044	R670H	probably benign	Het
Kdm4a	T	C	4: 118,138,949	E961G	possibly damaging	Het
Klra5	T	A	6: 129,906,622	I91L	probably damaging	Het
Kntc1	A	G	5: 123,772,113	T525A	probably damaging	Het
Lct	A	G	1: 128,294,195	F1536L	probably benign	Het
Lmod1	T	A	1: 135,363,933	D175E	probably benign	Het
Lonrf1	A	C	8: 36,233,972	D361E	probably benign	Het
Lrrc19	T	C	4: 94,638,429	Y297C	probably damaging	Het
Mast4	T	C	13: 102,736,923	E1787G	possibly damaging	Het
Mpp2	G	A	11: 102,060,548	A452V	probably benign	Het
Msh2	T	C	17: 87,718,652	V686A	possibly damaging	Het
Mthfd1	C	T	12: 76,270,419	Q15*	probably null	Het
Mtnr1b	A	T	9: 15,863,142	I207N	probably damaging	Het
Nid2	A	G	14: 19,805,412	T1207A	probably benign	Het
Nin	A	T	12: 70,038,750	V1569D	probably damaging	Het
Nov	T	A	15: 54,749,252	M219K	possibly damaging	Het
Nrcam	T	A	12: 44,537,364		probably benign	Het
Nsd1	T	A	13: 55,246,969	H897Q	probably damaging	Het
Olfr102	A	T	17: 37,313,480	N301K	probably benign	Het
Olfr1364	T	A	13: 21,574,310	I49F	possibly damaging	Het
Olfr77	G	T	9: 19,920,912	K234N	probably benign	Het
Olfr979	A	G	9: 40,001,194	F11S	probably benign	Het
Paip1	T	C	13: 119,451,784		probably benign	Het
Pcnx3	G	A	19: 5,685,347	R484*	probably null	Het
Pdxk	A	G	10: 78,447,980	Y127H	probably damaging	Het
Phf20	T	A	2: 156,287,834	V442E	probably benign	Het
Phlpp1	G	A	1: 106,392,789	D1505N	probably damaging	Het
Pkhd1	T	C	1: 20,347,440	T2496A	probably benign	Het
Pkhd1l1	A	G	15: 44,543,473	T2369A	probably benign	Het
Plod2	T	A	9: 92,603,067		probably benign	Het
Pnpla7	T	A	2: 25,015,251	M617K	possibly damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prkch	T	A	12: 73,649,357		probably null	Het
Prr12	G	A	7: 45,028,800	H1974Y	unknown	Het
Prr16	A	G	18: 51,302,970	I174V	probably benign	Het
Prss45	A	T	9: 110,838,429	T39S	probably benign	Het
Pum1	T	A	4: 130,718,204	D161E	probably damaging	Het
Rad51ap2	A	G	12: 11,457,112	D345G	probably damaging	Het
Rasgrp3	A	G	17: 75,500,734	H262R	possibly damaging	Het
Rnf213	T	A	11: 119,436,611	I1809N	probably damaging	Het
Ryr1	A	G	7: 29,062,191	L3177P	probably damaging	Het
Scyl2	C	A	10: 89,650,956	R230L	probably damaging	Het
Sfxn2	T	C	19: 46,582,476		probably benign	Het
Slc18b1	T	C	10: 23,798,741		probably benign	Het
Spata31d1d	T	C	13: 59,728,191	H510R	probably benign	Het
Stab1	A	T	14: 31,150,823	N1109K	probably damaging	Het
Sult3a2	A	G	10: 33,781,977	S47P	probably damaging	Het
Tenm3	T	C	8: 48,228,993	N2518S	possibly damaging	Het
Tex21	G	T	12: 76,206,891	P416Q	probably benign	Het
Tex38	T	C	4: 115,780,306	N100S	probably benign	Het
Thsd4	A	C	9: 60,394,553		probably benign	Het
Ticrr	T	C	7: 79,681,824	V723A	probably damaging	Het
Tmprss15	A	G	16: 79,090,829	V30A	probably benign	Het
Uba3	A	G	6: 97,185,337		probably benign	Het
Ubr1	T	C	2: 120,935,319		probably benign	Het
Uchl4	A	T	9: 64,235,731	I165L	probably benign	Het
Vmn2r112	A	T	17: 22,603,144	T268S	possibly damaging	Het
Wfdc3	T	C	2: 164,744,194		probably benign	Het
Zfp282	T	A	6: 47,892,867	L282Q	probably damaging	Het
Zfp422	A	T	6: 116,626,784	C85S	probably damaging	Het
Zfp790	A	T	7: 29,828,139	Q83L	probably benign	Het

Other mutations in Ralgapb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Ralgapb	APN	2	158420856	missense	probably damaging	1.00
IGL00534:Ralgapb	APN	2	158430500	missense	possibly damaging	0.72
IGL01362:Ralgapb	APN	2	158435465	missense	probably damaging	1.00
IGL01653:Ralgapb	APN	2	158462159	missense	possibly damaging	0.94
IGL01704:Ralgapb	APN	2	158420875	missense	possibly damaging	0.92
IGL02000:Ralgapb	APN	2	158454114	splice site	probably benign
IGL02169:Ralgapb	APN	2	158426204	missense	probably damaging	1.00
IGL02516:Ralgapb	APN	2	158465815	splice site	probably benign
IGL02548:Ralgapb	APN	2	158444665	missense	probably damaging	0.97
IGL02550:Ralgapb	APN	2	158448411	missense	probably damaging	1.00
IGL02653:Ralgapb	APN	2	158443309	missense	probably damaging	1.00
IGL02744:Ralgapb	APN	2	158446151	missense	probably damaging	1.00
IGL02804:Ralgapb	APN	2	158426284	missense	possibly damaging	0.78
IGL02937:Ralgapb	APN	2	158493016	splice site	probably null
IGL02993:Ralgapb	APN	2	158437394	missense	possibly damaging	0.90
IGL03154:Ralgapb	APN	2	158432866	missense	probably damaging	1.00
IGL03204:Ralgapb	APN	2	158465912	missense	possibly damaging	0.67
IGL03347:Ralgapb	APN	2	158465960	missense	possibly damaging	0.67
Chacha	UTSW	2	158492452	missense	probably damaging	0.99
Gato	UTSW	2	158444620	missense	probably damaging	1.00
Kibble	UTSW	2	158437140	missense	probably damaging	1.00
ralston	UTSW	2	158454277	missense	probably damaging	1.00
PIT4142001:Ralgapb	UTSW	2	158430422	missense	probably benign	0.34
R0037:Ralgapb	UTSW	2	158437411	missense	probably damaging	1.00
R0037:Ralgapb	UTSW	2	158437411	missense	probably damaging	1.00
R0077:Ralgapb	UTSW	2	158473249	missense	probably damaging	1.00
R0581:Ralgapb	UTSW	2	158492961	missense	probably benign
R0629:Ralgapb	UTSW	2	158439547	missense	probably damaging	1.00
R0839:Ralgapb	UTSW	2	158473283	critical splice donor site	probably null
R1331:Ralgapb	UTSW	2	158430533	missense	probably damaging	1.00
R1468:Ralgapb	UTSW	2	158462253	missense	possibly damaging	0.95
R1468:Ralgapb	UTSW	2	158462253	missense	possibly damaging	0.95
R1540:Ralgapb	UTSW	2	158465826	missense	probably benign	0.00
R1628:Ralgapb	UTSW	2	158430463	missense	probably benign	0.04
R1718:Ralgapb	UTSW	2	158443280	nonsense	probably null
R1777:Ralgapb	UTSW	2	158462195	missense	probably damaging	1.00
R1822:Ralgapb	UTSW	2	158492452	missense	probably damaging	0.99
R1903:Ralgapb	UTSW	2	158495563	missense	probably benign	0.04
R1909:Ralgapb	UTSW	2	158444675	missense	probably damaging	1.00
R2157:Ralgapb	UTSW	2	158437472	missense	probably benign	0.15
R4524:Ralgapb	UTSW	2	158437306	missense	probably benign	0.00
R4946:Ralgapb	UTSW	2	158440967	missense	probably damaging	1.00
R4975:Ralgapb	UTSW	2	158435508	missense	possibly damaging	0.66
R5014:Ralgapb	UTSW	2	158495535	missense	probably damaging	1.00
R5165:Ralgapb	UTSW	2	158465912	missense	possibly damaging	0.67
R5465:Ralgapb	UTSW	2	158448405	missense	possibly damaging	0.81
R5526:Ralgapb	UTSW	2	158432785	missense	probably damaging	1.00
R5566:Ralgapb	UTSW	2	158494710	missense	possibly damaging	0.90
R5949:Ralgapb	UTSW	2	158454259	missense	probably damaging	1.00
R6140:Ralgapb	UTSW	2	158456572	missense	probably damaging	1.00
R6175:Ralgapb	UTSW	2	158446155	missense	probably damaging	1.00
R6192:Ralgapb	UTSW	2	158449447	splice site	probably null
R6364:Ralgapb	UTSW	2	158462109	missense	probably damaging	1.00
R6458:Ralgapb	UTSW	2	158444620	missense	probably damaging	1.00
R6746:Ralgapb	UTSW	2	158476136	missense	probably damaging	1.00
R6782:Ralgapb	UTSW	2	158436566	missense	probably damaging	0.99
R6788:Ralgapb	UTSW	2	158436566	missense	probably damaging	0.99
R7017:Ralgapb	UTSW	2	158448337	missense	probably benign	0.19
R7108:Ralgapb	UTSW	2	158492460	missense	probably damaging	0.98
R7108:Ralgapb	UTSW	2	158494662	missense	probably damaging	1.00
R7236:Ralgapb	UTSW	2	158440827	missense	probably benign	0.34
R7454:Ralgapb	UTSW	2	158432902	missense	possibly damaging	0.94
R7485:Ralgapb	UTSW	2	158443355	missense	probably benign	0.35
R7595:Ralgapb	UTSW	2	158426165	missense	possibly damaging	0.91
R7615:Ralgapb	UTSW	2	158450270	missense	probably damaging	0.99
R7728:Ralgapb	UTSW	2	158482503	critical splice donor site	probably null
R7913:Ralgapb	UTSW	2	158465939	missense	probably damaging	1.00
R7953:Ralgapb	UTSW	2	158465883	missense	probably benign	0.10
R8245:Ralgapb	UTSW	2	158443336	missense	probably damaging	0.96
R8337:Ralgapb	UTSW	2	158450272	missense	probably benign	0.11
R8363:Ralgapb	UTSW	2	158426199	missense	probably damaging	1.00
R8429:Ralgapb	UTSW	2	158426297	missense	probably damaging	1.00
R8673:Ralgapb	UTSW	2	158450213	missense	probably damaging	1.00
R8955:Ralgapb	UTSW	2	158437344	missense	probably benign	0.05
R8955:Ralgapb	UTSW	2	158495469	missense	probably damaging	1.00
R8992:Ralgapb	UTSW	2	158454277	missense	probably damaging	1.00
R9013:Ralgapb	UTSW	2	158437140	missense	probably damaging	1.00
R9141:Ralgapb	UTSW	2	158420891	missense	possibly damaging	0.80
R9166:Ralgapb	UTSW	2	158432922	critical splice donor site	probably null
R9242:Ralgapb	UTSW	2	158435466	missense	probably benign	0.13
R9274:Ralgapb	UTSW	2	158436619	missense	probably damaging	1.00
R9354:Ralgapb	UTSW	2	158437393	missense	possibly damaging	0.90
R9454:Ralgapb	UTSW	2	158473152	missense	probably benign	0.30
R9489:Ralgapb	UTSW	2	158426363	missense	possibly damaging	0.89
R9490:Ralgapb	UTSW	2	158492430	missense	probably benign	0.29
R9510:Ralgapb	UTSW	2	158443936	missense	probably damaging	0.98
Z1177:Ralgapb	UTSW	2	158435555	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGCAGCCAACCCTTACCC -3'
(R):5'- ACGAGGTGTGACAGTGCAAACC -3'

Sequencing Primer
(F):5'- gttgatagcagttcttctgcc -3'
(R):5'- ggaggcaggaagaccaag -3'

Posted On

2014-04-13