Mutagenetix > Incidental Mutations

Incidental Mutation 'R5014:Ralgapb'

385411

Institutional Source

Beutler Lab

Gene Symbol

Ralgapb

Ensembl Gene

ENSMUSG00000027652

Gene Name

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

Synonyms

B230339M05Rik

MMRRC Submission

042605-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158409848-158499253 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 158495535 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1138 (R1138Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116481 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000046274
AA Change: R1456Q

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

SMART Domains

Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: R1456Q

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 damaging
Transcript: ENSMUST00000109485
AA Change: R1472Q

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

SMART Domains

Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: R1472Q

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 damaging
Transcript: ENSMUST00000109486
AA Change: R1460Q

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

SMART Domains

Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: R1460Q

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 damaging
Transcript: ENSMUST00000141497
AA Change: R1138Q

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

SMART Domains

Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: R1138Q

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

Meta Mutation Damage Score

0.7635

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,543,933	T1353A	probably benign	Het
Abca8b	A	T	11: 109,950,131	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,284,871	T517A	probably benign	Het
Blk	T	G	14: 63,379,787	N257T	probably benign	Het
Brd4	A	T	17: 32,198,398		probably benign	Het
Calr4	C	T	4: 109,235,797	Q25*	probably null	Het
Casc1	T	C	6: 145,183,266	E407G	probably damaging	Het
Cbl	T	C	9: 44,154,399		probably null	Het
Ccdc30	T	G	4: 119,393,627	H6P	possibly damaging	Het
Cd101	A	C	3: 101,003,823	Y840D	probably damaging	Het
Cd68	T	A	11: 69,665,339	N178Y	probably damaging	Het
Cep350	T	C	1: 155,928,206	T1044A	probably benign	Het
Cfap46	A	G	7: 139,627,375	V1876A	probably benign	Het
Clec2g	T	A	6: 128,948,802	M58K	probably benign	Het
Clip1	T	C	5: 123,617,730	E860G	probably damaging	Het
Col18a1	C	T	10: 77,070,960		probably null	Het
Cul7	A	G	17: 46,655,942	*650W	probably null	Het
Dkk4	C	T	8: 22,625,299	A55V	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dnase1	C	A	16: 4,039,016	Y170*	probably null	Het
Dnmt1	A	C	9: 20,912,254	I1019S	probably benign	Het
Epha6	T	A	16: 59,666,579	H1035L	probably benign	Het
Fam124b	T	C	1: 80,200,059	T408A	probably benign	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fam71f1	C	T	6: 29,326,724		probably benign	Het
Galnt7	T	C	8: 57,545,380	E305G	probably damaging	Het
Git1	T	A	11: 77,498,995	V28E	probably damaging	Het
Gm10010	C	T	6: 128,200,593		noncoding transcript	Het
Gm4956	T	C	1: 21,293,597		noncoding transcript	Het
Gpr152	T	G	19: 4,143,507	V349G	probably benign	Het
Gtsf1l	C	T	2: 163,087,192	V124I	probably damaging	Het
Gucy1b1	C	G	3: 82,046,667	G114A	probably benign	Het
Hk2	T	C	6: 82,743,955	Q166R	possibly damaging	Het
Hook2	A	G	8: 84,991,377	I44M	probably damaging	Het
Ildr1	T	A	16: 36,721,559	M222K	probably damaging	Het
Ints6	A	T	14: 62,760,191	F55Y	probably benign	Het
Kcnh1	A	G	1: 192,277,080	N314S	probably damaging	Het
Lpin3	T	C	2: 160,904,828	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,936,395		probably benign	Het
Msh2	A	T	17: 87,717,576	K627N	possibly damaging	Het
Myrip	A	G	9: 120,422,468	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,591,242	W51R	probably damaging	Het
Nfasc	A	T	1: 132,584,447		probably benign	Het
Olfr15	T	A	16: 3,839,048	I25N	probably benign	Het
Olfr281	T	C	15: 98,456,976	V222A	possibly damaging	Het
Olfr90	T	A	17: 37,085,554	I204F	probably benign	Het
P3h3	T	A	6: 124,855,236	E229V	probably damaging	Het
Ppfia2	T	A	10: 106,865,363	L837*	probably null	Het
Ppp2r1a	G	A	17: 20,958,839		probably null	Het
Rabgap1	T	A	2: 37,487,140	V328E	probably damaging	Het
Ranbp2	A	T	10: 58,464,120	Q498L	probably benign	Het
Rbx1	T	A	15: 81,470,960	C56S	probably damaging	Het
Rcan2	T	C	17: 44,017,813	F45S	probably damaging	Het
Rgs20	T	C	1: 4,910,547	Y185C	probably damaging	Het
Rorc	T	G	3: 94,391,153	L315R	probably damaging	Het
Skiv2l	A	G	17: 34,847,425	V194A	probably benign	Het
Slc13a2	T	C	11: 78,400,161	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,761,040	K62*	probably null	Het
Sox30	T	C	11: 45,991,909	S589P	probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Ssh2	T	A	11: 77,455,276	C1362*	probably null	Het
Tecta	C	T	9: 42,373,242	C849Y	probably damaging	Het
Thbs1	T	A	2: 118,120,037		probably null	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tyk2	C	T	9: 21,115,830		probably null	Het
Tyw5	C	A	1: 57,406,845		probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Wdfy4	A	T	14: 33,100,940	C1401S	probably benign	Het
Wiz	T	C	17: 32,359,366	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,014,749	E475K	unknown	Het
Zcchc11	T	C	4: 108,526,846		probably benign	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	Het
Zfp184	A	G	13: 21,958,424	D100G	probably benign	Het
Zfp990	T	A	4: 145,538,099	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892	P189L	probably damaging	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
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
R1572:Ralgapb	UTSW	2	158446199	splice site	probably benign
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
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
Z1177:Ralgapb	UTSW	2	158435555	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCTGGTCTCATGCTGATG -3'
(R):5'- ACAGGACTGTCTTGCTTTGATG -3'

Sequencing Primer
(F):5'- TCATGCTGATGTCTCTCTGAAG -3'
(R):5'- TGCTTTGATGTTAGAGCCCAC -3'

Posted On

2016-05-10