Mutagenetix > Incidental Mutation

Incidental Mutation 'R8429:Ralgapb'

653635

Institutional Source

Beutler Lab

Gene Symbol

Ralgapb

Ensembl Gene

ENSMUSG00000027652

Gene Name

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

Synonyms

B230339M05Rik

MMRRC Submission

067774-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

158251768-158341173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 158268217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 107 (P107S)

Ref Sequence

ENSEMBL: ENSMUSP00000105111 (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: P107S

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

SMART Domains

Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: P107S

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: P107S

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

SMART Domains

Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: P107S

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: P107S

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

SMART Domains

Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: P107S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	T	17: 48,347,875 (GRCm39)	L143*	probably null	Het
2900026A02Rik	T	C	5: 113,331,302 (GRCm39)	T971A	probably benign	Het
Abca6	A	T	11: 110,093,208 (GRCm39)	C1022S	probably benign	Het
Adgrf4	G	T	17: 42,978,340 (GRCm39)	N334K	probably benign	Het
Baz1b	A	G	5: 135,246,185 (GRCm39)	K545E	probably benign	Het
Bin3	A	G	14: 70,374,598 (GRCm39)	Y209C	probably damaging	Het
Btbd16	G	A	7: 130,397,067 (GRCm39)	A223T	probably benign	Het
C3	A	G	17: 57,529,811 (GRCm39)	V555A	probably damaging	Het
Calm3	T	A	7: 16,653,592 (GRCm39)		probably null	Het
Cct4	T	A	11: 22,946,030 (GRCm39)	L124Q	probably damaging	Het
Cenpf	C	T	1: 189,389,504 (GRCm39)	D1443N	possibly damaging	Het
Egfem1	G	A	3: 29,711,417 (GRCm39)		probably null	Het
Epha4	G	T	1: 77,366,673 (GRCm39)	Q591K	probably benign	Het
Fanci	T	C	7: 79,088,133 (GRCm39)	F929L	possibly damaging	Het
Fnip1	A	T	11: 54,366,522 (GRCm39)	D95V	possibly damaging	Het
Foxc1	A	T	13: 31,991,759 (GRCm39)	H190L	probably benign	Het
Gm45713	T	C	7: 44,785,540 (GRCm39)	S2G	unknown	Het
Grin2b	T	C	6: 135,710,914 (GRCm39)	I877M	probably damaging	Het
Hadha	T	C	5: 30,349,255 (GRCm39)	I119V	probably benign	Het
Hcar2	C	T	5: 124,003,538 (GRCm39)		probably benign	Het
Irag2	C	A	6: 145,110,949 (GRCm39)	D251E	probably damaging	Het
Krt13	A	T	11: 100,011,951 (GRCm39)	L124Q	probably damaging	Het
Larp1b	A	G	3: 40,931,662 (GRCm39)	*336W	probably null	Het
Man2c1	T	C	9: 57,038,445 (GRCm39)	L35P	probably damaging	Het
Meioc	A	T	11: 102,565,032 (GRCm39)	N160I	probably benign	Het
Mfsd2b	G	T	12: 4,916,487 (GRCm39)	Q331K	possibly damaging	Het
Mical2	T	A	7: 111,944,460 (GRCm39)	V930E	probably benign	Het
Mrgprb4	A	T	7: 47,848,173 (GRCm39)	F252I	probably benign	Het
Nars1	A	G	18: 64,634,391 (GRCm39)	Y511H	probably damaging	Het
Naxe	C	A	3: 87,965,459 (GRCm39)	S84I	probably damaging	Het
Ncam2	A	T	16: 81,386,523 (GRCm39)	D634V	probably damaging	Het
Npat	C	T	9: 53,481,909 (GRCm39)	Q1206*	probably null	Het
Nr1d2	G	A	14: 18,215,409 (GRCm38)	T201I	probably benign	Het
Nt5el	A	G	13: 105,255,296 (GRCm39)	Y459C	probably damaging	Het
Nup155	C	T	15: 8,141,904 (GRCm39)	H99Y	probably damaging	Het
Or10ag60	G	T	2: 87,437,868 (GRCm39)	L45F	probably benign	Het
Or4f4b	G	A	2: 111,313,840 (GRCm39)	V50I	possibly damaging	Het
Or5ac25	A	G	16: 59,181,990 (GRCm39)	V197A	possibly damaging	Het
Or9k2b	A	G	10: 130,016,092 (GRCm39)	V219A	possibly damaging	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Pde6a	T	A	18: 61,365,916 (GRCm39)	Y214N	probably damaging	Het
Pex7	T	C	10: 19,770,074 (GRCm39)	T145A	probably damaging	Het
Plekhj1	C	T	10: 80,632,304 (GRCm39)	S146N	probably benign	Het
Satb1	A	G	17: 52,074,978 (GRCm39)	M506T	probably damaging	Het
Sh3gl1	T	C	17: 56,325,821 (GRCm39)	N203D	possibly damaging	Het
Slc7a12	A	T	3: 14,562,342 (GRCm39)	I240F	probably benign	Het
Spata31h1	G	T	10: 82,125,301 (GRCm39)	Q2570K	possibly damaging	Het
Syt17	T	A	7: 118,033,564 (GRCm39)	Y144F	probably benign	Het
Thbd	G	T	2: 148,249,457 (GRCm39)	T137K	possibly damaging	Het
Tmem114	A	G	16: 8,230,031 (GRCm39)	F124L	probably damaging	Het
Ubtd1	G	T	19: 42,020,556 (GRCm39)		probably null	Het
Zfp458	A	G	13: 67,406,152 (GRCm39)	Y96H	possibly damaging	Het
Zfp78	T	C	7: 6,381,492 (GRCm39)	S181P	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
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
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'- TCTGGGCACTAGAAGATGTTG -3'
(R):5'- CGTTACATGACCCTGTAAGCC -3'

Sequencing Primer
(F):5'- ATGGACTGACCCTTCCAT -3'
(R):5'- ACATGACCCTGTAAGCCTATATG -3'

Posted On

2020-10-20