Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Ralgapb'

191186

Institutional Source

Beutler Lab

Gene Symbol

Ralgapb

Ensembl Gene

ENSMUSG00000027652

Gene Name

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

Synonyms

B230339M05Rik

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158409848-158499253 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 158443280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 554 (Y554*)

Ref Sequence

ENSEMBL: ENSMUSP00000105112 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000046274
AA Change: Y554*

SMART Domains

Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: Y554*

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 null
Transcript: ENSMUST00000109485
AA Change: Y566*

SMART Domains

Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: Y566*

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 null
Transcript: ENSMUST00000109486
AA Change: Y554*

SMART Domains

Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: Y554*

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: ENSMUST00000143394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173137

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,245,370		probably benign	Het
Acot3	T	G	12: 84,053,943		probably null	Het
Acox1	A	T	11: 116,174,682	C523*	probably null	Het
Adamts19	G	A	18: 58,972,825	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Apob	A	G	12: 8,016,087	K4319R	probably benign	Het
AU016765	A	C	17: 64,555,438		noncoding transcript	Het
Bpifb1	T	A	2: 154,213,983		probably null	Het
Btn2a2	A	G	13: 23,481,936	V242A	probably benign	Het
Camta1	A	G	4: 151,084,024	S1281P	probably benign	Het
Ccdc116	T	C	16: 17,141,908	K306E	probably benign	Het
Cemip	A	G	7: 83,935,658	V1350A	probably benign	Het
Clip2	A	T	5: 134,502,929	L674*	probably null	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Cyp4x1	A	G	4: 115,111,670	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,168,079	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,990,983	Y318C	probably damaging	Het
Fras1	A	T	5: 96,554,889		probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm28042	T	A	2: 120,036,391	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,928,003		probably benign	Het
Gm8909	A	G	17: 36,161,784		probably benign	Het
Gpr61	C	T	3: 108,150,380	V322M	possibly damaging	Het
Hapln3	A	G	7: 79,123,450	V15A	unknown	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klk1b4	A	G	7: 44,209,672	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,115,555	K561E	probably damaging	Het
Map3k1	A	G	13: 111,755,419	C1101R	probably benign	Het
Mcoln2	A	G	3: 146,190,474		probably benign	Het
Mfsd2b	G	A	12: 4,869,037	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,975,203	V19I	probably benign	Het
Mgme1	T	A	2: 144,272,318	D113E	probably benign	Het
Mki67	A	G	7: 135,695,494	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,831,644	I125V	probably benign	Het
Mrps9	G	A	1: 42,903,399	R339H	probably damaging	Het
Ndst1	T	C	18: 60,707,803	D269G	probably damaging	Het
Nedd9	T	C	13: 41,338,926	N30S	probably damaging	Het
Notch4	G	A	17: 34,576,763		probably benign	Het
Olfr1095	A	T	2: 86,851,187	N170K	probably benign	Het
Olfr250	A	G	9: 38,367,594	D6G	probably benign	Het
Olfr877	G	A	9: 37,855,453	V212I	probably benign	Het
Olfr995	T	C	2: 85,438,805	M118V	probably benign	Het
Papss1	C	A	3: 131,619,185	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,871,523		probably benign	Het
Rab11fip2	A	G	19: 59,935,649	F266L	probably damaging	Het
Rem2	T	C	14: 54,479,150	V240A	probably damaging	Het
Retsat	T	C	6: 72,602,671	V143A	probably benign	Het
Rnf141	G	T	7: 110,821,273	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,942,017	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,204,339	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,468,998		probably benign	Het
Smchd1	A	T	17: 71,448,833	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Speg	A	G	1: 75,421,744	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 124,898,357	V67A	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 85,071,738	E997D	probably benign	Het
Tti1	A	T	2: 158,008,224	V365E	probably benign	Het
Tulp4	A	G	17: 6,222,440	I590V	probably benign	Het
Vmn2r61	A	G	7: 42,300,697	D847G	probably benign	Het
Zfp184	A	G	13: 21,959,272	T383A	possibly damaging	Het
Zik1	T	A	7: 10,492,341	E33V	probably damaging	Het
Zik1	C	A	7: 10,492,342	E33*	probably null	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
R1572:Ralgapb	UTSW	2	158446199	splice site	probably benign
R1628:Ralgapb	UTSW	2	158430463	missense	probably benign	0.04
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'- TCAAACCCCTCAGAGGCAGTGAAG -3'
(R):5'- CATATGAGAACTGAAGGCACCCAGG -3'

Sequencing Primer
(F):5'- TGGGTATCTCATTTATAGGCACC -3'
(R):5'- CCCAGGAACTGAAAGCATTTG -3'

Posted On

2014-05-14