Mutagenetix > Incidental Mutation

Incidental Mutation 'R1331:Ralgapb'

156175

Institutional Source

Beutler Lab

Gene Symbol

Ralgapb

Ensembl Gene

ENSMUSG00000027652

Gene Name

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

Synonyms

B230339M05Rik

MMRRC Submission

039396-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158251768-158341173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158272453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 169 (F169S)

Ref Sequence

ENSEMBL: ENSMUSP00000105112 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000046274
AA Change: F169S

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

SMART Domains

Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: F169S

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: F169S

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

SMART Domains

Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: F169S

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: F169S

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

SMART Domains

Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: F169S

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

noncoding transcript
Transcript: ENSMUST00000143394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173137

Meta Mutation Damage Score

0.9228

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 93.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,773,202 (GRCm39)		probably null	Het
Acat1	T	C	9: 53,496,183 (GRCm39)	D318G	probably benign	Het
Ahdc1	T	C	4: 132,791,002 (GRCm39)	F748L	probably benign	Het
Alkbh8	T	A	9: 3,347,916 (GRCm39)		probably null	Het
Arhgef26	A	G	3: 62,247,449 (GRCm39)	T178A	probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Ccdc180	T	C	4: 45,909,359 (GRCm39)	V509A	possibly damaging	Het
Ccdc39	T	C	3: 33,869,634 (GRCm39)	E731G	probably benign	Het
Cenpf	A	G	1: 189,374,998 (GRCm39)	V2931A	probably damaging	Het
Cobl	A	T	11: 12,325,853 (GRCm39)	N207K	probably damaging	Het
Col14a1	T	A	15: 55,273,584 (GRCm39)	W718R	unknown	Het
Dnah7a	A	G	1: 53,507,828 (GRCm39)	I3081T	probably damaging	Het
Dync1h1	T	C	12: 110,615,698 (GRCm39)	V2977A	probably damaging	Het
Ephb4	A	G	5: 137,364,796 (GRCm39)		probably benign	Het
Eri3	T	C	4: 117,422,104 (GRCm39)		probably benign	Het
Fbxo24	A	G	5: 137,617,891 (GRCm39)	V291A	probably damaging	Het
Glra1	A	C	11: 55,405,896 (GRCm39)	S282A	probably benign	Het
Gm7589	C	A	9: 59,053,325 (GRCm39)		noncoding transcript	Het
H6pd	T	C	4: 150,066,872 (GRCm39)	N505D	probably benign	Het
Hdlbp	T	A	1: 93,348,853 (GRCm39)	N566Y	probably damaging	Het
Hsp90aa1	C	A	12: 110,659,254 (GRCm39)	K514N	probably damaging	Het
Impdh1	A	T	6: 29,206,477 (GRCm39)	V120D	probably damaging	Het
Katnip	A	G	7: 125,465,627 (GRCm39)	T1360A	probably benign	Het
Loxhd1	C	T	18: 77,490,632 (GRCm39)	P1411S	possibly damaging	Het
Lpl	A	G	8: 69,349,281 (GRCm39)	E269G	probably damaging	Het
Map1a	G	T	2: 121,136,701 (GRCm39)	E2268*	probably null	Het
Mark1	T	C	1: 184,660,245 (GRCm39)	E137G	probably damaging	Het
Mki67	A	T	7: 135,300,005 (GRCm39)	S1676R	possibly damaging	Het
Mogat2	T	C	7: 98,872,722 (GRCm39)	Y154C	possibly damaging	Het
Myo18a	C	G	11: 77,732,405 (GRCm39)	I859M	probably benign	Het
Myo7a	A	G	7: 97,756,215 (GRCm39)	V39A	probably benign	Het
Nedd4	T	A	9: 72,584,668 (GRCm39)	I123N	probably damaging	Het
Obscn	A	G	11: 58,977,754 (GRCm39)	V1966A	probably benign	Het
Or7g33	T	C	9: 19,448,842 (GRCm39)	N128S	probably benign	Het
Orc3	T	G	4: 34,599,748 (GRCm39)	N77T	probably benign	Het
Penk	A	G	4: 4,134,287 (GRCm39)	M120T	probably benign	Het
Phf7	G	A	14: 30,962,362 (GRCm39)	Q148*	probably null	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Pkhd1l1	C	T	15: 44,452,993 (GRCm39)	R3973C	probably damaging	Het
Polq	C	T	16: 36,862,109 (GRCm39)	T264M	probably damaging	Het
Ptprb	A	T	10: 116,203,437 (GRCm39)	T2070S	probably damaging	Het
Rapgef5	G	T	12: 117,685,084 (GRCm39)	A278S	probably benign	Het
Ripor2	G	T	13: 24,861,824 (GRCm39)	E203*	probably null	Het
Setx	T	C	2: 29,069,698 (GRCm39)	L2501P	probably benign	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Slc35b1	T	A	11: 95,276,689 (GRCm39)	V56D	probably damaging	Het
Slc45a4	C	T	15: 73,458,596 (GRCm39)	D326N	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stat4	T	A	1: 52,053,086 (GRCm39)	V89D	probably benign	Het
Tek	T	A	4: 94,627,943 (GRCm39)		probably benign	Het
Tert	T	A	13: 73,796,473 (GRCm39)	F1068Y	probably damaging	Het
Trim33	T	A	3: 103,217,670 (GRCm39)	I205K	probably damaging	Het
Vmn1r212	A	T	13: 23,067,562 (GRCm39)	I257K	probably benign	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
IGL02993:Ralgapb	APN	2	158,279,314 (GRCm39)	missense	possibly damaging	0.90
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTGTCACTGGACCACTGTTCTAC -3'
(R):5'- cccccaacCCATGTTGTATCTTTCC -3'

Sequencing Primer
(F):5'- CTGGACCACTGTTCTACATCAGTAAG -3'
(R):5'- CCAACCGAAAAATTGTTTGTCAAC -3'

Posted On

2014-02-11