Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01653:Ralgapb'

102889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ralgapb

Ensembl Gene

ENSMUSG00000027652

Gene Name

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

Synonyms

B230339M05Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01653

Quality Score

Status

Chromosome

Chromosomal Location

158409848-158499253 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158462159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 613 (S613T)

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

possibly damaging
Transcript: ENSMUST00000046274
AA Change: S931T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: S931T

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

possibly damaging
Transcript: ENSMUST00000109485
AA Change: S947T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: S947T

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

possibly damaging
Transcript: ENSMUST00000109486
AA Change: S935T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: S935T

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

possibly damaging
Transcript: ENSMUST00000141497
AA Change: S613T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: S613T

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: ENSMUST00000150420

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,446,974	D119G	probably damaging	Het
5430403G16Rik	A	C	5: 109,677,316	Y89*	probably null	Het
Apol7c	A	G	15: 77,526,300	C149R	probably damaging	Het
Arfgef1	G	A	1: 10,159,908	R1235*	probably null	Het
Bpifb4	A	G	2: 153,944,783	D285G	probably damaging	Het
Cep192	T	A	18: 67,852,972	H1682Q	possibly damaging	Het
Cerk	G	T	15: 86,149,351	Y290*	probably null	Het
Cyld	A	T	8: 88,741,370	I544F	probably damaging	Het
Dcp1a	T	C	14: 30,505,571	S134P	possibly damaging	Het
Epha6	A	C	16: 59,839,303	N817K	probably benign	Het
Ephb4	A	G	5: 137,365,741		probably benign	Het
Fcgr3	A	T	1: 171,059,280	L25Q	probably damaging	Het
Heatr3	A	G	8: 88,144,617	I83V	probably benign	Het
Hormad1	T	A	3: 95,578,297	N265K	possibly damaging	Het
Kpna1	A	G	16: 36,020,192	T201A	probably benign	Het
Krt6b	T	A	15: 101,679,114	T182S	probably damaging	Het
Macc1	A	G	12: 119,450,353	K755E	probably damaging	Het
Med12l	C	T	3: 59,261,893	T1568M	probably damaging	Het
Muc4	G	T	16: 32,761,348		probably null	Het
Myt1l	T	C	12: 29,910,771	S1028P	unknown	Het
Nhlrc2	C	T	19: 56,570,850	R256C	probably benign	Het
Olfr1230	T	A	2: 89,297,127	T48S	probably benign	Het
Olfr1441	G	A	19: 12,422,372	R21H	probably benign	Het
Pfkfb4	G	A	9: 108,999,134	R79H	probably damaging	Het
Piezo2	T	C	18: 63,182,833		probably benign	Het
Pramel5	C	T	4: 144,273,859	R49H	probably benign	Het
Ryr1	T	C	7: 29,078,597	E2158G	probably damaging	Het
Scgb2b19	T	A	7: 33,279,728	Y43F	probably damaging	Het
Slc17a6	A	G	7: 51,668,022	T468A	possibly damaging	Het
Slc36a1	A	G	11: 55,228,321	D374G	possibly damaging	Het
Wdtc1	T	C	4: 133,295,232	D601G	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
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
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
Z1177:Ralgapb	UTSW	2	158435555	missense	probably benign	0.00

Posted On

2014-01-21