Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02993:Ralgapb'

407021

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02993

Quality Score

Status

Chromosome

Chromosomal Location

158251768-158341173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158279314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 133 (N133K)

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: N445K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: N445K

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: N445K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: N445K

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: N445K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: N445K

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: N133K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: N133K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	C	3: 121,567,659 (GRCm39)	I434S	probably benign	Het
Actr2	C	T	11: 20,022,514 (GRCm39)	R319Q	probably damaging	Het
Atp13a5	G	T	16: 29,112,322 (GRCm39)	Y606*	probably null	Het
Baiap3	C	T	17: 25,469,056 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,227,396 (GRCm39)	Y8C	probably benign	Het
Ces1g	T	A	8: 94,043,707 (GRCm39)	M411L	probably benign	Het
Chd6	A	G	2: 160,894,304 (GRCm39)		probably benign	Het
Cyp2d40	C	A	15: 82,645,722 (GRCm39)	K94N	probably benign	Het
Ddx51	T	C	5: 110,803,487 (GRCm39)	V323A	possibly damaging	Het
Dock1	G	A	7: 134,346,027 (GRCm39)	V190I	probably benign	Het
Evc2	A	G	5: 37,576,501 (GRCm39)	T1042A	probably benign	Het
Fat4	T	A	3: 39,011,304 (GRCm39)	S2135T	probably damaging	Het
Gpat2	T	C	2: 127,269,486 (GRCm39)	F46S	probably damaging	Het
Klhl38	T	A	15: 58,185,851 (GRCm39)	K293*	probably null	Het
Map4k4	T	C	1: 40,053,348 (GRCm39)	I916T	probably damaging	Het
Nrap	T	A	19: 56,333,965 (GRCm39)	K964M	probably damaging	Het
Osbpl5	T	C	7: 143,253,071 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,302,236 (GRCm39)	Q260R	probably benign	Het
Scart2	A	G	7: 139,876,486 (GRCm39)	T537A	probably benign	Het
Slfn9	T	C	11: 82,872,022 (GRCm39)	S905G	probably benign	Het
Spata31g1	T	C	4: 42,971,719 (GRCm39)	Y351H	probably damaging	Het
Ssh2	C	T	11: 77,344,370 (GRCm39)	T785I	probably damaging	Het
Stk16	C	A	1: 75,189,648 (GRCm39)	Q69K	probably damaging	Het
Stk36	T	C	1: 74,661,446 (GRCm39)	L491P	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tcp11	T	C	17: 28,289,490 (GRCm39)	N194D	probably damaging	Het
Trio	C	A	15: 27,830,325 (GRCm39)		probably benign	Het
Ugt2b1	A	G	5: 87,069,850 (GRCm39)	V297A	possibly damaging	Het
Ugt2b5	T	G	5: 87,285,091 (GRCm39)	H282P	probably damaging	Het
Usp53	A	G	3: 122,727,492 (GRCm39)	M1030T	probably damaging	Het
Vmn1r234	T	A	17: 21,449,965 (GRCm39)	I293N	probably damaging	Het
Vmn2r57	T	A	7: 41,077,498 (GRCm39)	T223S	probably benign	Het
Wdr20	G	T	12: 110,760,742 (GRCm39)	E543*	probably null	Het
Zbtb25	T	A	12: 76,396,191 (GRCm39)	N344Y	probably damaging	Het
Zcchc2	T	C	1: 105,957,898 (GRCm39)	F790L	probably damaging	Het

Other mutations in Ralgapb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Ralgapb	APN	2	158,262,776 (GRCm39)	missense	probably damaging	1.00
IGL00534:Ralgapb	APN	2	158,272,420 (GRCm39)	missense	possibly damaging	0.72
IGL01362:Ralgapb	APN	2	158,277,385 (GRCm39)	missense	probably damaging	1.00
IGL01653:Ralgapb	APN	2	158,304,079 (GRCm39)	missense	possibly damaging	0.94
IGL01704:Ralgapb	APN	2	158,262,795 (GRCm39)	missense	possibly damaging	0.92
IGL02000:Ralgapb	APN	2	158,296,034 (GRCm39)	splice site	probably benign
IGL02169:Ralgapb	APN	2	158,268,124 (GRCm39)	missense	probably damaging	1.00
IGL02516:Ralgapb	APN	2	158,307,735 (GRCm39)	splice site	probably benign
IGL02548:Ralgapb	APN	2	158,286,585 (GRCm39)	missense	probably damaging	0.97
IGL02550:Ralgapb	APN	2	158,290,331 (GRCm39)	missense	probably damaging	1.00
IGL02653:Ralgapb	APN	2	158,285,229 (GRCm39)	missense	probably damaging	1.00
IGL02744:Ralgapb	APN	2	158,288,071 (GRCm39)	missense	probably damaging	1.00
IGL02804:Ralgapb	APN	2	158,268,204 (GRCm39)	missense	possibly damaging	0.78
IGL02937:Ralgapb	APN	2	158,334,936 (GRCm39)	splice site	probably null
IGL03154:Ralgapb	APN	2	158,274,786 (GRCm39)	missense	probably damaging	1.00
IGL03204:Ralgapb	APN	2	158,307,832 (GRCm39)	missense	possibly damaging	0.67
IGL03347:Ralgapb	APN	2	158,307,880 (GRCm39)	missense	possibly damaging	0.67
Chacha	UTSW	2	158,334,372 (GRCm39)	missense	probably damaging	0.99
Gato	UTSW	2	158,286,540 (GRCm39)	missense	probably damaging	1.00
Kibble	UTSW	2	158,279,060 (GRCm39)	missense	probably damaging	1.00
ralston	UTSW	2	158,296,197 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Ralgapb	UTSW	2	158,272,342 (GRCm39)	missense	probably benign	0.34
R0037:Ralgapb	UTSW	2	158,279,331 (GRCm39)	missense	probably damaging	1.00
R0037:Ralgapb	UTSW	2	158,279,331 (GRCm39)	missense	probably damaging	1.00
R0077:Ralgapb	UTSW	2	158,315,169 (GRCm39)	missense	probably damaging	1.00
R0581:Ralgapb	UTSW	2	158,334,881 (GRCm39)	missense	probably benign
R0629:Ralgapb	UTSW	2	158,281,467 (GRCm39)	missense	probably damaging	1.00
R0839:Ralgapb	UTSW	2	158,315,203 (GRCm39)	critical splice donor site	probably null
R1331:Ralgapb	UTSW	2	158,272,453 (GRCm39)	missense	probably damaging	1.00
R1468:Ralgapb	UTSW	2	158,304,173 (GRCm39)	missense	possibly damaging	0.95
R1468:Ralgapb	UTSW	2	158,304,173 (GRCm39)	missense	possibly damaging	0.95
R1540:Ralgapb	UTSW	2	158,307,746 (GRCm39)	missense	probably benign	0.00
R1572:Ralgapb	UTSW	2	158,288,119 (GRCm39)	splice site	probably benign
R1628:Ralgapb	UTSW	2	158,272,383 (GRCm39)	missense	probably benign	0.04
R1718:Ralgapb	UTSW	2	158,285,200 (GRCm39)	nonsense	probably null
R1777:Ralgapb	UTSW	2	158,304,115 (GRCm39)	missense	probably damaging	1.00
R1822:Ralgapb	UTSW	2	158,334,372 (GRCm39)	missense	probably damaging	0.99
R1903:Ralgapb	UTSW	2	158,337,483 (GRCm39)	missense	probably benign	0.04
R1909:Ralgapb	UTSW	2	158,286,595 (GRCm39)	missense	probably damaging	1.00
R2157:Ralgapb	UTSW	2	158,279,392 (GRCm39)	missense	probably benign	0.15
R4524:Ralgapb	UTSW	2	158,279,226 (GRCm39)	missense	probably benign	0.00
R4946:Ralgapb	UTSW	2	158,282,887 (GRCm39)	missense	probably damaging	1.00
R4975:Ralgapb	UTSW	2	158,277,428 (GRCm39)	missense	possibly damaging	0.66
R5014:Ralgapb	UTSW	2	158,337,455 (GRCm39)	missense	probably damaging	1.00
R5165:Ralgapb	UTSW	2	158,307,832 (GRCm39)	missense	possibly damaging	0.67
R5465:Ralgapb	UTSW	2	158,290,325 (GRCm39)	missense	possibly damaging	0.81
R5526:Ralgapb	UTSW	2	158,274,705 (GRCm39)	missense	probably damaging	1.00
R5566:Ralgapb	UTSW	2	158,336,630 (GRCm39)	missense	possibly damaging	0.90
R5949:Ralgapb	UTSW	2	158,296,179 (GRCm39)	missense	probably damaging	1.00
R6140:Ralgapb	UTSW	2	158,298,492 (GRCm39)	missense	probably damaging	1.00
R6175:Ralgapb	UTSW	2	158,288,075 (GRCm39)	missense	probably damaging	1.00
R6192:Ralgapb	UTSW	2	158,291,367 (GRCm39)	splice site	probably null
R6364:Ralgapb	UTSW	2	158,304,029 (GRCm39)	missense	probably damaging	1.00
R6458:Ralgapb	UTSW	2	158,286,540 (GRCm39)	missense	probably damaging	1.00
R6746:Ralgapb	UTSW	2	158,318,056 (GRCm39)	missense	probably damaging	1.00
R6782:Ralgapb	UTSW	2	158,278,486 (GRCm39)	missense	probably damaging	0.99
R6788:Ralgapb	UTSW	2	158,278,486 (GRCm39)	missense	probably damaging	0.99
R7017:Ralgapb	UTSW	2	158,290,257 (GRCm39)	missense	probably benign	0.19
R7108:Ralgapb	UTSW	2	158,336,582 (GRCm39)	missense	probably damaging	1.00
R7108:Ralgapb	UTSW	2	158,334,380 (GRCm39)	missense	probably damaging	0.98
R7236:Ralgapb	UTSW	2	158,282,747 (GRCm39)	missense	probably benign	0.34
R7454:Ralgapb	UTSW	2	158,274,822 (GRCm39)	missense	possibly damaging	0.94
R7485:Ralgapb	UTSW	2	158,285,275 (GRCm39)	missense	probably benign	0.35
R7595:Ralgapb	UTSW	2	158,268,085 (GRCm39)	missense	possibly damaging	0.91
R7615:Ralgapb	UTSW	2	158,292,190 (GRCm39)	missense	probably damaging	0.99
R7728:Ralgapb	UTSW	2	158,324,423 (GRCm39)	critical splice donor site	probably null
R7913:Ralgapb	UTSW	2	158,307,859 (GRCm39)	missense	probably damaging	1.00
R7953:Ralgapb	UTSW	2	158,307,803 (GRCm39)	missense	probably benign	0.10
R8245:Ralgapb	UTSW	2	158,285,256 (GRCm39)	missense	probably damaging	0.96
R8337:Ralgapb	UTSW	2	158,292,192 (GRCm39)	missense	probably benign	0.11
R8363:Ralgapb	UTSW	2	158,268,119 (GRCm39)	missense	probably damaging	1.00
R8429:Ralgapb	UTSW	2	158,268,217 (GRCm39)	missense	probably damaging	1.00
R8673:Ralgapb	UTSW	2	158,292,133 (GRCm39)	missense	probably damaging	1.00
R8955:Ralgapb	UTSW	2	158,337,389 (GRCm39)	missense	probably damaging	1.00
R8955:Ralgapb	UTSW	2	158,279,264 (GRCm39)	missense	probably benign	0.05
R8992:Ralgapb	UTSW	2	158,296,197 (GRCm39)	missense	probably damaging	1.00
R9013:Ralgapb	UTSW	2	158,279,060 (GRCm39)	missense	probably damaging	1.00
R9141:Ralgapb	UTSW	2	158,262,811 (GRCm39)	missense	possibly damaging	0.80
R9166:Ralgapb	UTSW	2	158,274,842 (GRCm39)	critical splice donor site	probably null
R9242:Ralgapb	UTSW	2	158,277,386 (GRCm39)	missense	probably benign	0.13
R9274:Ralgapb	UTSW	2	158,278,539 (GRCm39)	missense	probably damaging	1.00
R9354:Ralgapb	UTSW	2	158,279,313 (GRCm39)	missense	possibly damaging	0.90
R9454:Ralgapb	UTSW	2	158,315,072 (GRCm39)	missense	probably benign	0.30
R9489:Ralgapb	UTSW	2	158,268,283 (GRCm39)	missense	possibly damaging	0.89
R9490:Ralgapb	UTSW	2	158,334,350 (GRCm39)	missense	probably benign	0.29
R9510:Ralgapb	UTSW	2	158,285,856 (GRCm39)	missense	probably damaging	0.98
Z1177:Ralgapb	UTSW	2	158,277,475 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02