Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL00806

Quality Score

Status

Chromosome

Chromosomal Location

64066240-64126240 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64095157 bp (GRCm39)

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: 43,974,379 (GRCm39)	Y208D	probably damaging	Het
Birc6	T	A	17: 74,918,524 (GRCm39)	V18D	possibly damaging	Het
Copb2	T	C	9: 98,452,717 (GRCm39)	C104R	probably damaging	Het
Eif2ak4	A	G	2: 118,271,647 (GRCm39)	E76G	probably benign	Het
Flrt2	T	C	12: 95,747,303 (GRCm39)	I547T	probably damaging	Het
Golga1	A	T	2: 38,942,985 (GRCm39)	L95*	probably null	Het
Itga8	G	A	2: 12,260,777 (GRCm39)	Q224*	probably null	Het
Kcnt2	T	C	1: 140,450,949 (GRCm39)	Y693H	probably damaging	Het
Kctd4	A	T	14: 76,200,448 (GRCm39)	T140S	probably benign	Het
Lpl	T	C	8: 69,355,018 (GRCm39)	S469P	probably benign	Het
Naf1	A	G	8: 67,338,452 (GRCm39)	Q406R	probably damaging	Het
Pdgfd	A	G	9: 6,288,667 (GRCm39)	D107G	probably benign	Het
Rrm2b	C	T	15: 37,931,866 (GRCm39)	D45N	probably benign	Het
Setx	A	G	2: 29,017,038 (GRCm39)	Y47C	probably damaging	Het
Snx1	A	T	9: 65,996,867 (GRCm39)	Y462*	probably null	Het
Tek	A	T	4: 94,686,956 (GRCm39)	N158I	probably damaging	Het

Other mutations in Rell1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02374:Rell1	APN	5	64,095,151 (GRCm39)	missense	possibly damaging	0.94
IGL02697:Rell1	APN	5	64,084,354 (GRCm39)	missense	probably damaging	0.96
R0648:Rell1	UTSW	5	64,082,088 (GRCm39)	missense	probably benign	0.05
R1471:Rell1	UTSW	5	64,093,428 (GRCm39)	missense	probably damaging	1.00
R3177:Rell1	UTSW	5	64,084,330 (GRCm39)	critical splice donor site	probably null
R3277:Rell1	UTSW	5	64,084,330 (GRCm39)	critical splice donor site	probably null
R4095:Rell1	UTSW	5	64,126,013 (GRCm39)	missense	probably benign
R4921:Rell1	UTSW	5	64,093,376 (GRCm39)	missense	probably damaging	1.00
R4952:Rell1	UTSW	5	64,097,010 (GRCm39)	intron	probably benign
R6294:Rell1	UTSW	5	64,097,048 (GRCm39)	intron	probably benign
R6692:Rell1	UTSW	5	64,095,210 (GRCm39)	missense	probably damaging	1.00
R7297:Rell1	UTSW	5	64,093,418 (GRCm39)	missense	possibly damaging	0.86
R8078:Rell1	UTSW	5	64,097,064 (GRCm39)	intron	probably benign
R8385:Rell1	UTSW	5	64,087,861 (GRCm39)	nonsense	probably null
R9227:Rell1	UTSW	5	64,097,105 (GRCm39)	intron	probably benign
R9230:Rell1	UTSW	5	64,097,105 (GRCm39)	intron	probably benign
X0028:Rell1	UTSW	5	64,093,438 (GRCm39)	critical splice acceptor site	probably null

Posted On

2012-12-06