Mutagenetix > Incidental Mutation

Incidental Mutation 'R4629:Rergl'

349036

Institutional Source

Beutler Lab

Gene Symbol

Rergl

Ensembl Gene

ENSMUSG00000092164

Gene Name

RERG/RAS-like

Synonyms

EG632971

MMRRC Submission

041894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139492973-139501976 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139501852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 8 (V8A)

Ref Sequence

ENSEMBL: ENSMUSP00000131303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170650]

AlphaFold

B2RVE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000170650
AA Change: V8A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131303
Gene: ENSMUSG00000092164
AA Change: V8A

Domain	Start	End	E-Value	Type
Pfam:Ras	5	173	7.7e-30	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,279,351		noncoding transcript	Het
Abca6	T	C	11: 110,230,549		probably null	Het
Adam22	A	G	5: 8,232,663	S111P	possibly damaging	Het
Adamts18	C	T	8: 113,773,168	W371*	probably null	Het
Akr1c13	G	T	13: 4,197,870	V214F	probably damaging	Het
Alg10b	C	T	15: 90,227,745	A264V	probably benign	Het
Angpt1	T	A	15: 42,438,400	Y404F	probably benign	Het
Apol7c	A	G	15: 77,526,395	F117S	probably damaging	Het
Asic5	T	A	3: 82,006,504	Y162N	probably damaging	Het
Cacna2d2	A	T	9: 107,527,322	E1104V	probably damaging	Het
Cad	G	A	5: 31,070,295	V1263I	probably damaging	Het
Cdc20	T	C	4: 118,433,564	E413G	probably damaging	Het
Cfap46	A	T	7: 139,680,927	L85Q	probably damaging	Het
Cnot6l	A	G	5: 96,077,211	V541A	probably benign	Het
Cubn	T	A	2: 13,313,979		probably null	Het
Cx3cr1	T	C	9: 120,051,664	N224S	probably damaging	Het
Fam98c	T	C	7: 29,155,268	T49A	possibly damaging	Het
Fez2	C	T	17: 78,402,754	S202N	probably benign	Het
Fras1	A	G	5: 96,776,734	N3678S	probably benign	Het
Glyr1	A	G	16: 5,037,043	V57A	possibly damaging	Het
Gm5617	T	A	9: 48,495,887	L107Q	possibly damaging	Het
Gpnmb	A	G	6: 49,051,060	D401G	possibly damaging	Het
Gtpbp6	C	A	5: 110,106,908	V100L	possibly damaging	Het
Gucy1a1	A	G	3: 82,097,624	V618A	probably damaging	Het
H6pd	A	T	4: 149,996,346	M14K	probably benign	Het
Hectd4	A	G	5: 121,297,203	M993V	probably benign	Het
Kat14	A	G	2: 144,404,220		probably benign	Het
Kctd21	A	G	7: 97,347,575	D85G	probably damaging	Het
Kera	A	G	10: 97,609,631	N284S	probably benign	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lama1	A	G	17: 67,805,360		probably null	Het
Lgr6	T	C	1: 135,104,932	Y70C	probably damaging	Het
Lipg	T	A	18: 74,948,036	K325*	probably null	Het
Lrrc43	T	C	5: 123,499,520	L250P	probably damaging	Het
Lyz1	C	T	10: 117,291,136	R65H	probably benign	Het
March10	T	A	11: 105,389,838	L540F	probably benign	Het
Maz	G	T	7: 127,025,347	H334N	possibly damaging	Het
Myh1	A	G	11: 67,209,293	K646R	probably benign	Het
Nf2	A	T	11: 4,848,915	V24E	probably damaging	Het
Nup210l	C	T	3: 90,190,874	R1378*	probably null	Het
Nup210l	T	C	3: 90,167,875	S831P	probably benign	Het
Olfr45	T	A	7: 140,691,378	S158T	probably benign	Het
Orc5	G	T	5: 22,548,005	F10L	probably benign	Het
Palb2	A	C	7: 122,127,966	I227S	possibly damaging	Het
Pate3	A	T	9: 35,646,157	C68S	probably damaging	Het
Pcdha12	T	A	18: 37,021,873	N548K	probably damaging	Het
Prdm10	C	T	9: 31,337,316	Q345*	probably null	Het
Ptx4	A	T	17: 25,122,763	N71Y	probably damaging	Het
Rab42	C	T	4: 132,303,237	R34Q	probably benign	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Rpia	A	G	6: 70,766,594	M291T	possibly damaging	Het
Rplp0	G	A	5: 115,561,423		probably null	Het
Rrp12	A	T	19: 41,883,516	I443N	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Saxo1	T	C	4: 86,487,827	Y45C	probably damaging	Het
Sec24a	A	T	11: 51,721,813		probably null	Het
Setdb2	A	G	14: 59,409,359	V585A	probably benign	Het
Sik1	T	C	17: 31,849,607	E347G	probably benign	Het
Srbd1	T	C	17: 86,120,672	T378A	probably damaging	Het
Tacr1	A	G	6: 82,403,880	T91A	probably benign	Het
Tas2r135	T	A	6: 42,406,226	M233K	probably benign	Het
Tfg	A	T	16: 56,712,676	M40K	probably damaging	Het
Tmem35b	C	T	4: 127,129,003	P133S	probably benign	Het
Tmtc2	A	T	10: 105,303,650	S672T	probably benign	Het
Trpv3	A	T	11: 73,281,789	K253N	probably damaging	Het
Ube2c	A	G	2: 164,772,173	N143S	possibly damaging	Het
Unc13a	A	G	8: 71,653,453	M669T	possibly damaging	Het
Vmn1r61	T	A	7: 5,611,250	I22F	probably benign	Het
Vmn2r26	A	T	6: 124,061,191	Q575L	possibly damaging	Het
Vmn2r81	A	T	10: 79,267,442	E156D	probably damaging	Het
Vwa3a	T	A	7: 120,793,375	N812K	probably benign	Het
Wasl	T	C	6: 24,637,681	R71G	probably damaging	Het
Wdfy4	A	T	14: 33,102,558	N1301K	probably damaging	Het
Zfp72	A	G	13: 74,372,393	C189R	probably damaging	Het
Zfp827	G	A	8: 79,060,382	R59Q	probably damaging	Het

Other mutations in Rergl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Rergl	APN	6	139,493,258 (GRCm38)	nonsense	probably null
IGL01542:Rergl	APN	6	139,493,498 (GRCm38)	critical splice acceptor site	probably null
IGL01761:Rergl	APN	6	139,501,865 (GRCm38)	missense	probably damaging	0.96
IGL02236:Rergl	APN	6	139,494,920 (GRCm38)	missense	probably benign	0.25
IGL02507:Rergl	APN	6	139,493,353 (GRCm38)	missense	probably damaging	1.00
IGL02523:Rergl	APN	6	139,496,460 (GRCm38)	splice site	probably benign
R0518:Rergl	UTSW	6	139,496,526 (GRCm38)	missense	probably damaging	1.00
R0521:Rergl	UTSW	6	139,496,526 (GRCm38)	missense	probably damaging	1.00
R2086:Rergl	UTSW	6	139,494,834 (GRCm38)	missense	probably benign
R5275:Rergl	UTSW	6	139,501,821 (GRCm38)	critical splice donor site	probably null
R6364:Rergl	UTSW	6	139,500,748 (GRCm38)	missense	probably damaging	1.00
R7175:Rergl	UTSW	6	139,496,535 (GRCm38)	missense	probably benign	0.01
R8808:Rergl	UTSW	6	139,501,867 (GRCm38)	missense	probably benign	0.18
R9033:Rergl	UTSW	6	139,494,902 (GRCm38)	missense	probably damaging	1.00
R9403:Rergl	UTSW	6	139,494,854 (GRCm38)	missense	possibly damaging	0.79
R9803:Rergl	UTSW	6	139,500,763 (GRCm38)	missense	probably damaging	1.00
Z1088:Rergl	UTSW	6	139,493,426 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCCAGAAGATTGAAAATGC -3'
(R):5'- AGAGGATTATGAATGGGACTTCTG -3'

Sequencing Primer
(F):5'- CCCAGAAGATTGAAAATGCATACAG -3'
(R):5'- CTGTTGAAATGTACCAAAAGCAAACG -3'

Posted On

2015-10-08