Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02507:Rergl'

296401

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: 0.071) question?

Stock #

IGL02507

Quality Score

Status

Chromosome

Chromosomal Location

139492973-139501976 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139493353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 159 (E159V)

Ref Sequence

ENSEMBL: ENSMUSP00000131303 (fasta)

Gene Model

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

AlphaFold

B2RVE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000170650
AA Change: E159V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131303
Gene: ENSMUSG00000092164
AA Change: E159V

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	A	11: 103,199,449	Q287L	probably damaging	Het
Abca13	A	G	11: 9,399,388	Y3654C	probably damaging	Het
Aldh1l2	A	C	10: 83,492,584	Y756*	probably null	Het
Arhgef12	T	C	9: 42,992,563	E733G	probably damaging	Het
Art5	A	T	7: 102,099,492	M1K	probably null	Het
Atp1a2	A	T	1: 172,285,771	D448E	probably damaging	Het
Atp6v1b1	C	T	6: 83,756,855	T356I	possibly damaging	Het
Celsr1	A	G	15: 85,900,688		probably benign	Het
Cep89	A	G	7: 35,435,565	Y686C	probably damaging	Het
Cgrrf1	T	A	14: 46,853,444	Y212*	probably null	Het
Chrnb1	T	C	11: 69,785,090	Y442C	probably damaging	Het
Clcn1	T	C	6: 42,307,073		probably benign	Het
Clcn7	G	A	17: 25,144,469	V40M	probably damaging	Het
Cntn1	A	G	15: 92,250,979	Y369C	possibly damaging	Het
Csmd1	T	C	8: 17,534,976		probably benign	Het
Dpy19l2	A	T	9: 24,631,267	C446S	probably benign	Het
Edem3	G	A	1: 151,811,656	E782K	probably benign	Het
Ephb3	T	A	16: 21,220,639		probably benign	Het
Fndc4	T	C	5: 31,294,746	D109G	probably damaging	Het
Fras1	T	C	5: 96,657,408	V1303A	possibly damaging	Het
Gcn1l1	T	C	5: 115,585,881	L532P	probably benign	Het
Gm5150	A	G	3: 15,963,321	L262P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,884		probably benign	Het
Krt74	A	G	15: 101,760,624		noncoding transcript	Het
Myo1a	T	C	10: 127,712,609	V375A	probably damaging	Het
Nup160	A	T	2: 90,729,735	Q1268L	probably benign	Het
Olfr1155	G	A	2: 87,942,918	R237*	probably null	Het
Olfr1290	G	A	2: 111,489,423	T245M	possibly damaging	Het
Olfr1412	T	C	1: 92,588,926	S199P	possibly damaging	Het
Olfr610	G	T	7: 103,506,718	S76*	probably null	Het
Pan3	T	C	5: 147,526,596	S497P	probably damaging	Het
Pex5	T	C	6: 124,413,305	T138A	probably benign	Het
Pik3ap1	A	G	19: 41,282,012		probably benign	Het
Ptchd4	A	T	17: 42,316,873	H75L	possibly damaging	Het
Rag2	A	T	2: 101,630,710	H455L	probably damaging	Het
Rrn3	A	G	16: 13,788,857	N109S	probably benign	Het
Scn1a	A	T	2: 66,277,813	V1523D	probably damaging	Het
Sec23a	A	G	12: 59,007,098	V38A	probably benign	Het
Slc15a2	G	A	16: 36,781,659	T92M	possibly damaging	Het
Slc2a2	A	G	3: 28,727,111	T433A	probably benign	Het
Sptan1	A	G	2: 30,016,055	D1671G	probably damaging	Het
Stab1	A	G	14: 31,139,210		probably benign	Het
Stau2	A	T	1: 16,486,069	I22N	possibly damaging	Het
Strn3	A	T	12: 51,661,627	Y123*	probably null	Het
Tmem205	A	G	9: 21,926,311	V13A	possibly damaging	Het
Trub1	G	A	19: 57,483,577		probably benign	Het
Ttn	A	G	2: 76,738,355	V27398A	possibly damaging	Het
Vill	A	G	9: 119,070,777	E343G	possibly damaging	Het
Zgpat	T	C	2: 181,366,236	F189L	probably 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
IGL01761:Rergl	APN	6	139501865	missense	probably damaging	0.96
IGL02236:Rergl	APN	6	139494920	missense	probably benign	0.25
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

2015-04-16