Mutagenetix > Incidental Mutation

Incidental Mutation 'R2086:Rergl'

229991

Institutional Source

Beutler Lab

Gene Symbol

Rergl

Ensembl Gene

ENSMUSG00000092164

Gene Name

RERG/RAS-like

Synonyms

EG632971

MMRRC Submission

040091-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139492973-139501976 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139494834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 106 (T106A)

Ref Sequence

ENSEMBL: ENSMUSP00000131303 (fasta)

Gene Model

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

AlphaFold

B2RVE2

Predicted Effect

probably benign
Transcript: ENSMUST00000170650
AA Change: T106A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131303
Gene: ENSMUSG00000092164
AA Change: T106A

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

Meta Mutation Damage Score

0.1184

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,595 (GRCm38)	M53T	unknown	Het
Abcb11	T	A	2: 69,259,476 (GRCm38)		probably benign	Het
Acap2	C	G	16: 31,110,945 (GRCm38)	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,228,012 (GRCm38)	R302G	probably damaging	Het
Aoc1l1	A	G	6: 48,977,602 (GRCm38)	E558G	probably damaging	Het
Ap2b1	T	G	11: 83,351,118 (GRCm38)	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,352,298 (GRCm38)	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,757,852 (GRCm38)	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,550,067 (GRCm38)	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,316,782 (GRCm38)	V37D	probably damaging	Het
Cacna1d	T	C	14: 30,047,357 (GRCm38)	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,109,411 (GRCm38)	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,203 (GRCm38)	E256G	probably damaging	Het
Cd5	A	G	19: 10,723,256 (GRCm38)	S295P	probably benign	Het
Cenpb	T	C	2: 131,178,597 (GRCm38)		probably benign	Het
Cntnap3	A	G	13: 64,794,262 (GRCm38)	M218T	possibly damaging	Het
Colec11	C	T	12: 28,594,787 (GRCm38)	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098 (GRCm38)		probably benign	Het
Csnk2a1	A	G	2: 152,254,281 (GRCm38)	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,312,308 (GRCm38)	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,743,659 (GRCm38)	Q98L	probably null	Het
Dnah11	G	T	12: 118,113,871 (GRCm38)	Q1296K	possibly damaging	Het
Edc4	T	A	8: 105,888,002 (GRCm38)	D105E	probably damaging	Het
Eid2b	C	T	7: 28,277,773 (GRCm38)		probably benign	Het
Exoc1	A	T	5: 76,532,846 (GRCm38)	K28*	probably null	Het
Fam114a1	A	G	5: 64,980,059 (GRCm38)	D115G	probably benign	Het
Fam151a	A	T	4: 106,735,563 (GRCm38)		probably null	Het
Gc	T	C	5: 89,438,342 (GRCm38)	Y313C	probably damaging	Het
Gdpd1	A	G	11: 87,035,268 (GRCm38)	Y284H	probably benign	Het
Gm21957	T	A	7: 125,219,706 (GRCm38)		noncoding transcript	Het
Golm1	G	A	13: 59,645,185 (GRCm38)	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281 (GRCm38)	V813A	probably damaging	Het
Itih1	C	T	14: 30,937,843 (GRCm38)	A279T	probably damaging	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lama1	T	C	17: 67,817,623 (GRCm38)	C2893R	probably damaging	Het
Lama3	T	A	18: 12,524,830 (GRCm38)	N334K	probably benign	Het
Loxhd1	A	G	18: 77,384,946 (GRCm38)	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,398,385 (GRCm38)	K316R	probably benign	Het
Mapre3	A	C	5: 30,863,202 (GRCm38)		probably null	Het
Mgam	T	A	6: 40,761,028 (GRCm38)		probably null	Het
Mical2	A	C	7: 112,318,603 (GRCm38)	H389P	probably benign	Het
Mtmr2	A	G	9: 13,799,952 (GRCm38)	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,634,071 (GRCm38)	L1309F	probably benign	Het
Nid2	G	A	14: 19,778,043 (GRCm38)	G516S	probably benign	Het
Nodal	A	T	10: 61,423,298 (GRCm38)	E171D	possibly damaging	Het
Notch2	T	C	3: 98,102,367 (GRCm38)	S537P	probably damaging	Het
Obox6	A	G	7: 15,833,607 (GRCm38)	L305S	probably damaging	Het
Obscn	T	C	11: 59,078,256 (GRCm38)	D2715G	probably damaging	Het
Or4k1	T	A	14: 50,140,123 (GRCm38)	N172I	probably damaging	Het
Or5g26	A	C	2: 85,663,746 (GRCm38)	S229R	probably benign	Het
Pcca	T	C	14: 122,686,115 (GRCm38)	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,380,471 (GRCm38)	S407P	probably damaging	Het
Plekha5	C	A	6: 140,570,318 (GRCm38)		probably null	Het
Ptdss1	A	G	13: 66,953,555 (GRCm38)	N72S	probably benign	Het
Ptprs	T	C	17: 56,454,984 (GRCm38)	I43V	probably null	Het
Pygm	G	A	19: 6,391,481 (GRCm38)		probably null	Het
Rab7	C	T	6: 88,012,318 (GRCm38)	V57I	probably benign	Het
Rasl10a	A	G	11: 5,059,431 (GRCm38)		probably null	Het
Rnf17	T	G	14: 56,483,380 (GRCm38)	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,593,967 (GRCm38)	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,872,969 (GRCm38)	M1V	probably null	Het
Rps6ka5	T	C	12: 100,619,615 (GRCm38)	T140A	possibly damaging	Het
Sbno2	T	A	10: 80,057,856 (GRCm38)	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,675,262 (GRCm38)	I68N	probably damaging	Het
Slc35a5	A	G	16: 45,144,265 (GRCm38)	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,760,946 (GRCm38)	S93W	probably damaging	Het
Slc49a3	C	T	5: 108,445,621 (GRCm38)	R117H	probably damaging	Het
Smc1b	A	G	15: 85,121,851 (GRCm38)		probably benign	Het
Spag1	T	C	15: 36,227,141 (GRCm38)	L648P	probably damaging	Het
Tagap1	T	C	17: 6,956,703 (GRCm38)	D198G	probably benign	Het
Tedc2	T	C	17: 24,217,900 (GRCm38)	E287G	probably damaging	Het
Tjp1	C	A	7: 65,312,921 (GRCm38)	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446 (GRCm38)		probably benign	Het
Ttc38	T	A	15: 85,838,727 (GRCm38)	D125E	probably benign	Het
Uggt1	C	T	1: 36,192,414 (GRCm38)	R490Q	probably null	Het
Uroc1	T	G	6: 90,344,114 (GRCm38)	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,777,193 (GRCm38)	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,676,687 (GRCm38)	L99V	probably damaging	Het
Vps13c	C	T	9: 67,950,289 (GRCm38)	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830 (GRCm38)	L932P	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
R4629:Rergl	UTSW	6	139,501,852 (GRCm38)	missense	probably damaging	1.00
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'- CTGCTCGTGAGTGTCATGTTAAC -3'
(R):5'- TGCGATCACTAAACTTTGTGC -3'

Sequencing Primer
(F):5'- GTCAGCCAGGGTATAAAGCATTCTC -3'
(R):5'- GCGATCACTAAACTTTGTGCATTTGG -3'

Posted On

2014-09-18