Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00806:Rell1'

13799

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rell1

Ensembl Gene

ENSMUSG00000047881

Gene Name

RELT-like 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL00806

Quality Score

Status

Chromosome

Chromosomal Location

63908897-63968897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63937814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 103 (E103G)

Ref Sequence

ENSEMBL: ENSMUSP00000118125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087327] [ENSMUST00000154169]

AlphaFold

Q8K2J7

Predicted Effect

probably benign
Transcript: ENSMUST00000087327

SMART Domains

Protein: ENSMUSP00000084585
Gene: ENSMUSG00000047881

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000154169
AA Change: E103G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: E103G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:RELT	59	103	1.2e-26	PFAM
low complexity region	149	168	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	A	C	8: 43,521,342	Y208D	probably damaging	Het
Birc6	T	A	17: 74,611,529	V18D	possibly damaging	Het
Copb2	T	C	9: 98,570,664	C104R	probably damaging	Het
Eif2ak4	A	G	2: 118,441,166	E76G	probably benign	Het
Flrt2	T	C	12: 95,780,529	I547T	probably damaging	Het
Golga1	A	T	2: 39,052,973	L95*	probably null	Het
Itga8	G	A	2: 12,255,966	Q224*	probably null	Het
Kcnt2	T	C	1: 140,523,211	Y693H	probably damaging	Het
Kctd4	A	T	14: 75,963,008	T140S	probably benign	Het
Lpl	T	C	8: 68,902,366	S469P	probably benign	Het
Naf1	A	G	8: 66,885,800	Q406R	probably damaging	Het
Pdgfd	A	G	9: 6,288,667	D107G	probably benign	Het
Rrm2b	C	T	15: 37,931,622	D45N	probably benign	Het
Setx	A	G	2: 29,127,026	Y47C	probably damaging	Het
Snx1	A	T	9: 66,089,585	Y462*	probably null	Het
Tek	A	T	4: 94,798,719	N158I	probably damaging	Het

Other mutations in Rell1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02374:Rell1	APN	5	63937808	missense	possibly damaging	0.94
IGL02697:Rell1	APN	5	63927011	missense	probably damaging	0.96
R0648:Rell1	UTSW	5	63924745	missense	probably benign	0.05
R1471:Rell1	UTSW	5	63936085	missense	probably damaging	1.00
R3177:Rell1	UTSW	5	63926987	critical splice donor site	probably null
R3277:Rell1	UTSW	5	63926987	critical splice donor site	probably null
R4095:Rell1	UTSW	5	63968670	missense	probably benign
R4921:Rell1	UTSW	5	63936033	missense	probably damaging	1.00
R4952:Rell1	UTSW	5	63939667	intron	probably benign
R6294:Rell1	UTSW	5	63939705	intron	probably benign
R6692:Rell1	UTSW	5	63937867	missense	probably damaging	1.00
R7297:Rell1	UTSW	5	63936075	missense	possibly damaging	0.86
R8078:Rell1	UTSW	5	63939721	intron	probably benign
R8385:Rell1	UTSW	5	63930518	nonsense	probably null
X0028:Rell1	UTSW	5	63936095	critical splice acceptor site	probably null

Posted On

2012-12-06