Mutagenetix > Incidental Mutation

Incidental Mutation 'R5275:Rergl'

403882

Institutional Source

Beutler Lab

Gene Symbol

Rergl

Ensembl Gene

ENSMUSG00000092164

Gene Name

RERG/RAS-like

Synonyms

EG632971

MMRRC Submission

042838-MU

Accession Numbers

Essential gene?

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

Stock #

R5275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139492973-139501976 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 139501821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131303 (fasta)

Gene Model

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

AlphaFold

B2RVE2

Predicted Effect

probably null
Transcript: ENSMUST00000170650

SMART Domains

Protein: ENSMUSP00000131303
Gene: ENSMUSG00000092164

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

Predicted Effect

probably null
Transcript: ENSMUST00000170650

SMART Domains

Protein: ENSMUSP00000131303
Gene: ENSMUSG00000092164

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

Predicted Effect

probably null
Transcript: ENSMUST00000170650

SMART Domains

Protein: ENSMUSP00000131303
Gene: ENSMUSG00000092164

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

Meta Mutation Damage Score

0.9480

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,235,659 (GRCm38)	R155H	probably benign	Het
Abcc1	C	T	16: 14,466,186 (GRCm38)	L1222F	probably damaging	Het
Alpl	T	C	4: 137,749,608 (GRCm38)	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183 (GRCm38)	H378R	probably damaging	Het
Apold1	G	T	6: 134,983,800 (GRCm38)	L72F	probably damaging	Het
Arhgef1	G	A	7: 24,919,352 (GRCm38)		probably null	Het
Atp5c1	T	C	2: 10,068,733 (GRCm38)	R10G	possibly damaging	Het
Ccr10	C	T	11: 101,174,285 (GRCm38)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204 (GRCm38)	H42Q	possibly damaging	Het
Chd6	A	G	2: 160,969,363 (GRCm38)	L1440P	probably benign	Het
Clca3a2	A	G	3: 144,813,579 (GRCm38)	S279P	probably damaging	Het
Cma1	A	T	14: 55,941,700 (GRCm38)	I233N	probably damaging	Het
Dnajc16	T	C	4: 141,767,928 (GRCm38)	E493G	possibly damaging	Het
Dst	T	C	1: 34,180,148 (GRCm38)	S1890P	probably benign	Het
Ears2	T	C	7: 122,048,198 (GRCm38)	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661 (GRCm38)	P273L	possibly damaging	Het
Fryl	T	C	5: 73,112,791 (GRCm38)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889 (GRCm38)		noncoding transcript	Het
Gm38100	A	G	1: 175,920,770 (GRCm38)	H134R	probably benign	Het
Gm5117	T	A	8: 31,739,567 (GRCm38)		noncoding transcript	Het
Gm8882	T	G	6: 132,361,877 (GRCm38)	Q126P	unknown	Het
Gm8909	T	C	17: 36,161,675 (GRCm38)		probably null	Het
Lmtk3	G	A	7: 45,791,298 (GRCm38)	D243N	probably damaging	Het
Lsm7	T	C	10: 80,854,620 (GRCm38)	E32G	probably damaging	Het
Olfr1309	T	A	2: 111,983,829 (GRCm38)	I82F	probably damaging	Het
Olfr1344	A	T	7: 6,440,016 (GRCm38)	T39S	probably benign	Het
Olfr728	T	A	14: 50,140,496 (GRCm38)	I48F	probably benign	Het
Opa1	C	T	16: 29,611,579 (GRCm38)	T451I	probably damaging	Het
Pcdh12	T	A	18: 38,284,101 (GRCm38)		probably benign	Het
Perm1	T	C	4: 156,217,518 (GRCm38)	L173P	probably benign	Het
Plvap	T	C	8: 71,511,670 (GRCm38)	Q16R	probably benign	Het
Ppan	T	A	9: 20,889,773 (GRCm38)	Y115*	probably null	Het
Prl7d1	A	T	13: 27,709,247 (GRCm38)	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478 (GRCm38)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,386,359 (GRCm38)	I195V	probably benign	Het
Ptpn20	A	G	14: 33,631,192 (GRCm38)	H296R	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003 (GRCm38)		probably null	Het
Scfd1	A	T	12: 51,415,589 (GRCm38)	H409L	probably benign	Het
Serpina3c	T	C	12: 104,148,378 (GRCm38)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817 (GRCm38)	F190S	probably damaging	Het
Slc24a5	C	T	2: 125,085,861 (GRCm38)	T360I	probably benign	Het
Snx6	T	C	12: 54,784,022 (GRCm38)	H51R	probably damaging	Het
Sorl1	A	T	9: 42,030,902 (GRCm38)	V1009D	probably benign	Het
Tdh	T	C	14: 63,496,109 (GRCm38)	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,051,912 (GRCm38)	L1255*	probably null	Het
Tlk1	C	T	2: 70,752,205 (GRCm38)		probably benign	Het
Tnc	G	A	4: 63,964,730 (GRCm38)	Q1885*	probably null	Het
Vcl	T	C	14: 21,010,078 (GRCm38)	V595A	probably damaging	Het
Vmn1r84	A	T	7: 12,361,814 (GRCm38)	N305K	probably benign	Het
Zbtb2	T	C	10: 4,368,508 (GRCm38)	K506R	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
R4629:Rergl	UTSW	6	139,501,852 (GRCm38)	missense	probably damaging	1.00
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'- ATTTCAGGCAATCACACGGC -3'
(R):5'- AGAGGATTATGAATGGGACTTCTG -3'

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

Posted On

2016-07-22