Mutagenetix > Incidental Mutation

Incidental Mutation 'R3416:Ralgapa1'

266811

Institutional Source

Beutler Lab

Gene Symbol

Ralgapa1

Ensembl Gene

ENSMUSG00000021027

Gene Name

Ral GTPase activating protein, alpha subunit 1

Synonyms

Garnl1, 4930400K19Rik, 2310003F20Rik, Tulip1

MMRRC Submission

040634-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R3416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55602896-55821167 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 55770613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085385] [ENSMUST00000110687] [ENSMUST00000219432] [ENSMUST00000220367] [ENSMUST00000226244]

AlphaFold

Q6GYP7

Predicted Effect

probably benign
Transcript: ENSMUST00000085385

SMART Domains

Protein: ENSMUSP00000082503
Gene: ENSMUSG00000021027

Domain	Start	End	E-Value	Type
low complexity region	644	651	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	894	915	N/A	INTRINSIC
low complexity region	1386	1395	N/A	INTRINSIC
low complexity region	1784	1798	N/A	INTRINSIC
Pfam:Rap_GAP	1824	2003	7.4e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110687

SMART Domains

Protein: ENSMUSP00000106315
Gene: ENSMUSG00000021027

Domain	Start	End	E-Value	Type
low complexity region	644	651	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	894	915	N/A	INTRINSIC
low complexity region	1386	1395	N/A	INTRINSIC
low complexity region	1784	1798	N/A	INTRINSIC
Pfam:Rap_GAP	1824	2001	1.9e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219542

Predicted Effect

probably benign
Transcript: ENSMUST00000220367

Predicted Effect

probably benign
Transcript: ENSMUST00000226244

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (33/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009L16Rik	T	C	10: 83,759,632		probably null	Het
Abi1	T	C	2: 23,040,002	S22G	probably damaging	Het
Adgrl2	T	C	3: 148,859,329	Y201C	probably damaging	Het
Adnp2	T	C	18: 80,128,158	E1012G	possibly damaging	Het
Azin1	A	T	15: 38,493,546	S278T	possibly damaging	Het
Crocc	G	A	4: 141,046,447	T103I	possibly damaging	Het
Cyb561d2	A	G	9: 107,540,126	L142P	probably damaging	Het
Cyhr1	A	T	15: 76,658,715		probably null	Het
Cyp4f39	T	C	17: 32,489,742	V421A	possibly damaging	Het
Fryl	T	C	5: 73,108,074	Q510R	possibly damaging	Het
Gfra1	T	C	19: 58,267,112	Y301C	probably damaging	Het
Igsf9b	G	A	9: 27,309,478	V47I	possibly damaging	Het
Klhl42	G	A	6: 147,107,880	V406M	probably damaging	Het
Mfsd13a	C	T	19: 46,371,992	R328C	probably damaging	Het
Mycs	C	T	X: 5,468,756	S90N	possibly damaging	Het
Olfr508	G	A	7: 108,630,018	V9I	possibly damaging	Het
Pcdha8	A	T	18: 36,992,630	Q55L	probably benign	Het
Pkhd1l1	A	G	15: 44,547,364	T2756A	probably damaging	Het
Prl8a8	A	T	13: 27,511,549	C71S	probably damaging	Het
Rtl4	C	T	X: 145,119,905	Q108*	probably null	Het
Scn4a	A	T	11: 106,330,413	S807T	probably benign	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Smg1	G	C	7: 118,148,853		probably benign	Het
Spata1	A	T	3: 146,487,508		probably benign	Het
Strbp	C	G	2: 37,590,725	R610T	possibly damaging	Het
Susd5	A	G	9: 114,095,658	D203G	possibly damaging	Het
Tas2r124	A	T	6: 132,755,638	R303S	probably benign	Het
Tgm3	G	A	2: 130,047,772	V629M	possibly damaging	Het
Tha1	T	C	11: 117,873,200	D67G	possibly damaging	Het
Vmn2r120	T	A	17: 57,509,241	I705F	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zan	T	A	5: 137,435,720	E2250D	unknown	Het
Zfp560	A	T	9: 20,347,678	Y629*	probably null	Het

Other mutations in Ralgapa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Ralgapa1	APN	12	55,722,773 (GRCm38)	missense	probably damaging	0.98
IGL00494:Ralgapa1	APN	12	55,747,185 (GRCm38)	missense	probably damaging	1.00
IGL00731:Ralgapa1	APN	12	55,702,452 (GRCm38)	missense	possibly damaging	0.94
IGL00851:Ralgapa1	APN	12	55,709,575 (GRCm38)	missense	possibly damaging	0.93
IGL01133:Ralgapa1	APN	12	55,642,359 (GRCm38)	missense	probably damaging	0.99
IGL01133:Ralgapa1	APN	12	55,642,348 (GRCm38)	missense	probably damaging	1.00
IGL01354:Ralgapa1	APN	12	55,777,316 (GRCm38)	missense	possibly damaging	0.68
IGL01514:Ralgapa1	APN	12	55,719,657 (GRCm38)	missense	probably damaging	0.97
IGL02033:Ralgapa1	APN	12	55,642,477 (GRCm38)	missense	possibly damaging	0.69
IGL02064:Ralgapa1	APN	12	55,708,077 (GRCm38)	missense	probably damaging	1.00
IGL02556:Ralgapa1	APN	12	55,642,449 (GRCm38)	missense	possibly damaging	0.80
IGL02605:Ralgapa1	APN	12	55,712,665 (GRCm38)	missense	possibly damaging	0.90
IGL02657:Ralgapa1	APN	12	55,673,507 (GRCm38)	missense	probably damaging	1.00
IGL02676:Ralgapa1	APN	12	55,676,417 (GRCm38)	missense	probably damaging	1.00
IGL02894:Ralgapa1	APN	12	55,717,069 (GRCm38)	missense	possibly damaging	0.79
IGL02944:Ralgapa1	APN	12	55,757,951 (GRCm38)	missense	probably benign	0.01
Anhydrous	UTSW	12	55,795,778 (GRCm38)	critical splice acceptor site	probably null
Aqueous	UTSW	12	55,698,854 (GRCm38)	missense	probably damaging	1.00
bantam	UTSW	12	55,722,773 (GRCm38)	critical splice donor site	probably null
Deliquescent	UTSW	12	55,782,900 (GRCm38)	splice site	probably benign
wickedwarlock	UTSW	12	55,777,292 (GRCm38)	missense	probably null	0.99
F5770:Ralgapa1	UTSW	12	55,795,653 (GRCm38)	splice site	probably benign
IGL03046:Ralgapa1	UTSW	12	55,695,157 (GRCm38)	missense	probably damaging	1.00
R0011:Ralgapa1	UTSW	12	55,786,263 (GRCm38)	missense	probably damaging	0.99
R0096:Ralgapa1	UTSW	12	55,739,505 (GRCm38)	missense	probably damaging	1.00
R0277:Ralgapa1	UTSW	12	55,677,238 (GRCm38)	missense	probably damaging	0.99
R0323:Ralgapa1	UTSW	12	55,677,238 (GRCm38)	missense	probably damaging	0.99
R0333:Ralgapa1	UTSW	12	55,782,900 (GRCm38)	splice site	probably benign
R0361:Ralgapa1	UTSW	12	55,676,569 (GRCm38)	missense	possibly damaging	0.93
R0385:Ralgapa1	UTSW	12	55,677,038 (GRCm38)	missense	probably damaging	1.00
R0386:Ralgapa1	UTSW	12	55,708,067 (GRCm38)	missense	probably benign	0.03
R0498:Ralgapa1	UTSW	12	55,689,791 (GRCm38)	missense	possibly damaging	0.66
R0552:Ralgapa1	UTSW	12	55,676,765 (GRCm38)	missense	probably benign	0.27
R0564:Ralgapa1	UTSW	12	55,782,885 (GRCm38)	missense	possibly damaging	0.84
R0611:Ralgapa1	UTSW	12	55,795,698 (GRCm38)	missense	probably damaging	0.99
R0730:Ralgapa1	UTSW	12	55,665,663 (GRCm38)	missense	probably damaging	1.00
R0741:Ralgapa1	UTSW	12	55,676,581 (GRCm38)	missense	probably damaging	0.99
R0815:Ralgapa1	UTSW	12	55,782,777 (GRCm38)	splice site	probably benign
R0815:Ralgapa1	UTSW	12	55,762,681 (GRCm38)	nonsense	probably null
R0863:Ralgapa1	UTSW	12	55,782,777 (GRCm38)	splice site	probably benign
R0863:Ralgapa1	UTSW	12	55,762,681 (GRCm38)	nonsense	probably null
R1068:Ralgapa1	UTSW	12	55,790,310 (GRCm38)	critical splice donor site	probably null
R1147:Ralgapa1	UTSW	12	55,702,480 (GRCm38)	missense	probably damaging	1.00
R1147:Ralgapa1	UTSW	12	55,702,480 (GRCm38)	missense	probably damaging	1.00
R1256:Ralgapa1	UTSW	12	55,762,661 (GRCm38)	missense	possibly damaging	0.94
R1343:Ralgapa1	UTSW	12	55,707,978 (GRCm38)	missense	probably damaging	1.00
R1378:Ralgapa1	UTSW	12	55,676,926 (GRCm38)	missense	probably damaging	1.00
R1474:Ralgapa1	UTSW	12	55,741,480 (GRCm38)	missense	probably benign	0.09
R1494:Ralgapa1	UTSW	12	55,684,524 (GRCm38)	missense	probably damaging	0.99
R1593:Ralgapa1	UTSW	12	55,770,703 (GRCm38)	missense	probably damaging	1.00
R1607:Ralgapa1	UTSW	12	55,741,536 (GRCm38)	missense	probably damaging	1.00
R1681:Ralgapa1	UTSW	12	55,762,603 (GRCm38)	missense	probably benign	0.35
R1689:Ralgapa1	UTSW	12	55,676,767 (GRCm38)	missense	possibly damaging	0.79
R1714:Ralgapa1	UTSW	12	55,642,389 (GRCm38)	missense	probably damaging	1.00
R1832:Ralgapa1	UTSW	12	55,757,967 (GRCm38)	missense	probably benign	0.03
R1870:Ralgapa1	UTSW	12	55,677,032 (GRCm38)	missense	possibly damaging	0.66
R2040:Ralgapa1	UTSW	12	55,786,322 (GRCm38)	missense	probably damaging	1.00
R2043:Ralgapa1	UTSW	12	55,677,026 (GRCm38)	missense	probably damaging	0.99
R2046:Ralgapa1	UTSW	12	55,695,160 (GRCm38)	missense	probably damaging	1.00
R2109:Ralgapa1	UTSW	12	55,776,188 (GRCm38)	missense	possibly damaging	0.90
R2114:Ralgapa1	UTSW	12	55,786,349 (GRCm38)	critical splice acceptor site	probably null
R2115:Ralgapa1	UTSW	12	55,786,349 (GRCm38)	critical splice acceptor site	probably null
R2202:Ralgapa1	UTSW	12	55,612,800 (GRCm38)	splice site	probably null
R2203:Ralgapa1	UTSW	12	55,612,800 (GRCm38)	splice site	probably null
R2233:Ralgapa1	UTSW	12	55,717,071 (GRCm38)	missense	probably benign	0.13
R2235:Ralgapa1	UTSW	12	55,717,071 (GRCm38)	missense	probably benign	0.13
R2341:Ralgapa1	UTSW	12	55,677,124 (GRCm38)	missense	possibly damaging	0.66
R2507:Ralgapa1	UTSW	12	55,718,201 (GRCm38)	missense	probably damaging	1.00
R2508:Ralgapa1	UTSW	12	55,718,201 (GRCm38)	missense	probably damaging	1.00
R2972:Ralgapa1	UTSW	12	55,820,755 (GRCm38)	missense	possibly damaging	0.61
R3160:Ralgapa1	UTSW	12	55,709,586 (GRCm38)	missense	probably damaging	1.00
R3162:Ralgapa1	UTSW	12	55,709,586 (GRCm38)	missense	probably damaging	1.00
R3401:Ralgapa1	UTSW	12	55,659,137 (GRCm38)	missense	possibly damaging	0.66
R3499:Ralgapa1	UTSW	12	55,695,143 (GRCm38)	splice site	probably benign
R3799:Ralgapa1	UTSW	12	55,659,130 (GRCm38)	missense	probably damaging	1.00
R3948:Ralgapa1	UTSW	12	55,698,767 (GRCm38)	missense	probably damaging	1.00
R4039:Ralgapa1	UTSW	12	55,795,701 (GRCm38)	missense	probably damaging	0.99
R4120:Ralgapa1	UTSW	12	55,640,644 (GRCm38)	missense	probably damaging	1.00
R4165:Ralgapa1	UTSW	12	55,640,644 (GRCm38)	missense	probably damaging	1.00
R4166:Ralgapa1	UTSW	12	55,640,644 (GRCm38)	missense	probably damaging	1.00
R4212:Ralgapa1	UTSW	12	55,739,330 (GRCm38)	critical splice donor site	probably null
R4232:Ralgapa1	UTSW	12	55,640,644 (GRCm38)	missense	probably damaging	1.00
R4233:Ralgapa1	UTSW	12	55,640,644 (GRCm38)	missense	probably damaging	1.00
R4234:Ralgapa1	UTSW	12	55,640,644 (GRCm38)	missense	probably damaging	1.00
R4235:Ralgapa1	UTSW	12	55,640,644 (GRCm38)	missense	probably damaging	1.00
R4399:Ralgapa1	UTSW	12	55,795,778 (GRCm38)	critical splice acceptor site	probably null
R4698:Ralgapa1	UTSW	12	55,677,276 (GRCm38)	splice site	probably null
R4715:Ralgapa1	UTSW	12	55,693,458 (GRCm38)	missense	probably damaging	1.00
R4755:Ralgapa1	UTSW	12	55,712,748 (GRCm38)	missense	probably damaging	1.00
R4810:Ralgapa1	UTSW	12	55,794,993 (GRCm38)	critical splice donor site	probably null
R4827:Ralgapa1	UTSW	12	55,676,437 (GRCm38)	missense	probably damaging	1.00
R4849:Ralgapa1	UTSW	12	55,698,803 (GRCm38)	missense	probably damaging	0.99
R4934:Ralgapa1	UTSW	12	55,762,574 (GRCm38)	missense	possibly damaging	0.94
R5006:Ralgapa1	UTSW	12	55,718,114 (GRCm38)	missense	probably benign	0.02
R5114:Ralgapa1	UTSW	12	55,612,723 (GRCm38)	missense	possibly damaging	0.84
R5140:Ralgapa1	UTSW	12	55,665,674 (GRCm38)	missense	probably damaging	1.00
R5140:Ralgapa1	UTSW	12	55,776,152 (GRCm38)	missense	probably damaging	1.00
R5168:Ralgapa1	UTSW	12	55,758,032 (GRCm38)	missense	probably benign	0.05
R5407:Ralgapa1	UTSW	12	55,676,797 (GRCm38)	missense	possibly damaging	0.93
R5441:Ralgapa1	UTSW	12	55,719,623 (GRCm38)	missense	probably damaging	1.00
R5473:Ralgapa1	UTSW	12	55,676,710 (GRCm38)	missense	probably benign	0.41
R5624:Ralgapa1	UTSW	12	55,612,738 (GRCm38)	missense	probably damaging	1.00
R5766:Ralgapa1	UTSW	12	55,820,766 (GRCm38)	start codon destroyed	probably null	0.99
R5826:Ralgapa1	UTSW	12	55,677,113 (GRCm38)	missense	probably damaging	1.00
R5950:Ralgapa1	UTSW	12	55,738,265 (GRCm38)	missense	possibly damaging	0.58
R5980:Ralgapa1	UTSW	12	55,770,616 (GRCm38)	splice site	probably null
R6019:Ralgapa1	UTSW	12	55,684,042 (GRCm38)	missense	possibly damaging	0.92
R6065:Ralgapa1	UTSW	12	55,757,924 (GRCm38)	critical splice donor site	probably null
R6326:Ralgapa1	UTSW	12	55,747,146 (GRCm38)	missense	probably damaging	1.00
R6355:Ralgapa1	UTSW	12	55,698,854 (GRCm38)	missense	probably damaging	1.00
R6408:Ralgapa1	UTSW	12	55,683,910 (GRCm38)	nonsense	probably null
R6448:Ralgapa1	UTSW	12	55,719,661 (GRCm38)	missense	probably benign	0.14
R6453:Ralgapa1	UTSW	12	55,738,319 (GRCm38)	missense	probably damaging	1.00
R6590:Ralgapa1	UTSW	12	55,722,773 (GRCm38)	critical splice donor site	probably null
R6690:Ralgapa1	UTSW	12	55,722,773 (GRCm38)	critical splice donor site	probably null
R6738:Ralgapa1	UTSW	12	55,762,727 (GRCm38)	missense	probably damaging	1.00
R6836:Ralgapa1	UTSW	12	55,604,273 (GRCm38)	splice site	probably null
R6936:Ralgapa1	UTSW	12	55,786,212 (GRCm38)	missense	probably damaging	0.99
R6945:Ralgapa1	UTSW	12	55,776,191 (GRCm38)	missense	possibly damaging	0.64
R7028:Ralgapa1	UTSW	12	55,758,059 (GRCm38)	missense	probably damaging	1.00
R7075:Ralgapa1	UTSW	12	55,820,723 (GRCm38)	missense	possibly damaging	0.66
R7076:Ralgapa1	UTSW	12	55,721,576 (GRCm38)	missense	possibly damaging	0.82
R7098:Ralgapa1	UTSW	12	55,790,310 (GRCm38)	critical splice donor site	probably null
R7231:Ralgapa1	UTSW	12	55,604,191 (GRCm38)	missense	probably damaging	1.00
R7254:Ralgapa1	UTSW	12	55,695,193 (GRCm38)	missense	probably damaging	1.00
R7326:Ralgapa1	UTSW	12	55,709,004 (GRCm38)	missense	probably damaging	1.00
R7485:Ralgapa1	UTSW	12	55,712,672 (GRCm38)	missense	probably damaging	1.00
R7580:Ralgapa1	UTSW	12	55,718,228 (GRCm38)	missense	probably benign	0.00
R7677:Ralgapa1	UTSW	12	55,659,143 (GRCm38)	missense	probably damaging	0.96
R7702:Ralgapa1	UTSW	12	55,709,556 (GRCm38)	missense	probably damaging	1.00
R7702:Ralgapa1	UTSW	12	55,709,555 (GRCm38)	missense	probably damaging	1.00
R7707:Ralgapa1	UTSW	12	55,777,292 (GRCm38)	missense	probably null	0.99
R7723:Ralgapa1	UTSW	12	55,741,513 (GRCm38)	missense	probably benign
R7763:Ralgapa1	UTSW	12	55,757,955 (GRCm38)	missense	probably benign	0.28
R7791:Ralgapa1	UTSW	12	55,741,519 (GRCm38)	missense	probably damaging	0.97
R7812:Ralgapa1	UTSW	12	55,719,628 (GRCm38)	missense	possibly damaging	0.67
R7868:Ralgapa1	UTSW	12	55,612,638 (GRCm38)	missense	probably benign	0.00
R7895:Ralgapa1	UTSW	12	55,747,149 (GRCm38)	missense	probably benign	0.44
R7896:Ralgapa1	UTSW	12	55,697,878 (GRCm38)	missense	probably benign	0.01
R8004:Ralgapa1	UTSW	12	55,702,457 (GRCm38)	missense	probably damaging	0.99
R8094:Ralgapa1	UTSW	12	55,782,846 (GRCm38)	missense	probably damaging	0.99
R8213:Ralgapa1	UTSW	12	55,722,914 (GRCm38)	missense	probably damaging	0.99
R8307:Ralgapa1	UTSW	12	55,741,523 (GRCm38)	missense	probably damaging	0.99
R8423:Ralgapa1	UTSW	12	55,659,062 (GRCm38)	missense	probably damaging	0.99
R8462:Ralgapa1	UTSW	12	55,676,518 (GRCm38)	missense	possibly damaging	0.90
R8469:Ralgapa1	UTSW	12	55,739,413 (GRCm38)	missense	probably damaging	1.00
R8675:Ralgapa1	UTSW	12	55,738,217 (GRCm38)	missense	possibly damaging	0.93
R8802:Ralgapa1	UTSW	12	55,738,316 (GRCm38)	missense	probably damaging	0.99
R8937:Ralgapa1	UTSW	12	55,702,560 (GRCm38)	missense	probably damaging	0.96
R8953:Ralgapa1	UTSW	12	55,820,761 (GRCm38)	missense	probably damaging	0.99
R8974:Ralgapa1	UTSW	12	55,677,006 (GRCm38)	missense	probably benign
R9011:Ralgapa1	UTSW	12	55,605,529 (GRCm38)	intron	probably benign
R9089:Ralgapa1	UTSW	12	55,676,566 (GRCm38)	missense	probably damaging	0.97
R9124:Ralgapa1	UTSW	12	55,735,096 (GRCm38)	missense	probably damaging	1.00
R9254:Ralgapa1	UTSW	12	55,722,798 (GRCm38)	missense	probably damaging	1.00
R9320:Ralgapa1	UTSW	12	55,709,058 (GRCm38)	missense	possibly damaging	0.59
R9379:Ralgapa1	UTSW	12	55,722,798 (GRCm38)	missense	probably damaging	1.00
R9446:Ralgapa1	UTSW	12	55,708,023 (GRCm38)	missense	probably damaging	0.97
R9684:Ralgapa1	UTSW	12	55,612,700 (GRCm38)	missense	possibly damaging	0.63
Z1176:Ralgapa1	UTSW	12	55,709,080 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAGAGCATGTGTTTAGCATGC -3'
(R):5'- AGTAGACAAGTCTGCAGAGCC -3'

Sequencing Primer
(F):5'- GCATGTGTTTAGCATGCACAAAGC -3'
(R):5'- ACAAGTCTGCAGAGCCTGAGC -3'

Posted On

2015-02-18