Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01761:Rergl'

153554

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rergl

Ensembl Gene

ENSMUSG00000092164

Gene Name

RERG/RAS-like

Synonyms

EG632971

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL01761

Quality Score

Status

Chromosome

Chromosomal Location

139492973-139501976 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139501865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 4 (V4F)

Ref Sequence

ENSEMBL: ENSMUSP00000131303 (fasta)

Gene Model

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

AlphaFold

B2RVE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000170650
AA Change: V4F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131303
Gene: ENSMUSG00000092164
AA Change: V4F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	C	17: 36,978,807	T44A	probably damaging	Het
A2ml1	T	A	6: 128,546,337	Q1212L	possibly damaging	Het
A530064D06Rik	T	C	17: 48,152,959	S190G	possibly damaging	Het
AA986860	A	G	1: 130,742,722	H227R	possibly damaging	Het
Ace	C	A	11: 105,979,493	A826E	possibly damaging	Het
Amigo3	G	A	9: 108,053,402	G8D	possibly damaging	Het
Angpt1	A	T	15: 42,476,467	F283I	possibly damaging	Het
Arhgef5	T	C	6: 43,274,604	L763P	probably benign	Het
Atr	T	C	9: 95,951,448		probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
C4b	T	A	17: 34,739,938	M506L	possibly damaging	Het
Cdc25a	T	C	9: 109,891,865		probably benign	Het
Dcaf17	T	C	2: 71,056,537	S57P	probably damaging	Het
Dph5	T	A	3: 115,899,713	D93E	probably damaging	Het
Fam169a	A	G	13: 97,091,918	E33G	possibly damaging	Het
Fam193b	G	A	13: 55,549,257	T340I	probably benign	Het
Glod4	T	C	11: 76,243,602	N15D	probably benign	Het
Inpp5k	A	G	11: 75,647,677	E102G	possibly damaging	Het
Kif27	A	T	13: 58,337,645	D500E	probably benign	Het
Lmntd1	A	G	6: 145,433,722	I15T	possibly damaging	Het
Lrp2	C	T	2: 69,481,235	R2633H	possibly damaging	Het
Lrp4	G	A	2: 91,481,981		probably null	Het
Lrrc3b	A	C	14: 15,358,098	N169K	probably benign	Het
March7	T	C	2: 60,234,195	S272P	probably benign	Het
Mier2	A	G	10: 79,548,352		probably null	Het
Myo9b	G	A	8: 71,349,152	S1307N	probably damaging	Het
Olfr1220	G	T	2: 89,097,544	P128T	probably damaging	Het
Olfr494	T	G	7: 108,368,318	V276G	probably damaging	Het
Phkb	A	T	8: 86,019,064	M629L	probably benign	Het
Rgs22	A	T	15: 36,103,751	I188N	probably damaging	Het
Rgs3	G	T	4: 62,652,709		probably benign	Het
Rpl4	T	A	9: 64,174,939	V40D	probably damaging	Het
Sox4	A	T	13: 28,952,807	I72N	possibly damaging	Het
Syne1	A	C	10: 5,405,456	V375G	probably damaging	Het
Tfrc	G	T	16: 32,628,551	D662Y	probably damaging	Het
Ubqln5	T	C	7: 104,128,427	R397G	possibly damaging	Het
Unc13d	T	C	11: 116,073,869	D257G	probably damaging	Het
Vmn1r160	A	T	7: 22,871,443	N74Y	probably damaging	Het
Vmn1r168	T	A	7: 23,541,645	I309N	possibly damaging	Het
Vmn1r20	T	C	6: 57,431,740	L17P	probably damaging	Het
Wdr19	A	G	5: 65,215,820	I142V	possibly damaging	Het
Zan	A	T	5: 137,425,597	I2680N	unknown	Het
Zbtb20	T	C	16: 43,610,661	F512L	possibly damaging	Het

Other mutations in Rergl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Rergl	APN	6	139493258	nonsense	probably null
IGL01542:Rergl	APN	6	139493498	critical splice acceptor site	probably null
IGL02236:Rergl	APN	6	139494920	missense	probably benign	0.25
IGL02507:Rergl	APN	6	139493353	missense	probably damaging	1.00
IGL02523:Rergl	APN	6	139496460	splice site	probably benign
R0518:Rergl	UTSW	6	139496526	missense	probably damaging	1.00
R0521:Rergl	UTSW	6	139496526	missense	probably damaging	1.00
R2086:Rergl	UTSW	6	139494834	missense	probably benign
R4629:Rergl	UTSW	6	139501852	missense	probably damaging	1.00
R5275:Rergl	UTSW	6	139501821	critical splice donor site	probably null
R6364:Rergl	UTSW	6	139500748	missense	probably damaging	1.00
R7175:Rergl	UTSW	6	139496535	missense	probably benign	0.01
R8808:Rergl	UTSW	6	139501867	missense	probably benign	0.18
R9033:Rergl	UTSW	6	139494902	missense	probably damaging	1.00
R9403:Rergl	UTSW	6	139494854	missense	possibly damaging	0.79
R9803:Rergl	UTSW	6	139500763	missense	probably damaging	1.00
Z1088:Rergl	UTSW	6	139493426	nonsense	probably null

Posted On

2014-02-04