Mutagenetix > Incidental Mutation

Incidental Mutation 'R6710:Erfe'

529087

Institutional Source

Beutler Lab

Gene Symbol

Erfe

Ensembl Gene

ENSMUSG00000047443

Gene Name

erythroferrone

Synonyms

Fam132b, myonectin

MMRRC Submission

044828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91294152-91301939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91300128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 318 (D318G)

Ref Sequence

ENSEMBL: ENSMUSP00000084073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027534] [ENSMUST00000086861] [ENSMUST00000187306] [ENSMUST00000187678] [ENSMUST00000190747]

AlphaFold

Q6PGN1

Predicted Effect

probably benign
Transcript: ENSMUST00000027534

SMART Domains

Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309

Domain	Start	End	E-Value	Type
Blast:PP2C_SIG	26	64	4e-12	BLAST
PP2Cc	94	388	4.47e-93	SMART
PP2C_SIG	128	390	9.82e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086861
AA Change: D318G

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

SMART Domains

Protein: ENSMUSP00000084073
Gene: ENSMUSG00000047443
AA Change: D318G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	40	58	N/A	INTRINSIC
low complexity region	85	113	N/A	INTRINSIC
low complexity region	170	180	N/A	INTRINSIC
Blast:TNF	200	337	3e-25	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185886

Predicted Effect

probably benign
Transcript: ENSMUST00000187049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187105

Predicted Effect

probably benign
Transcript: ENSMUST00000187231

Predicted Effect

probably benign
Transcript: ENSMUST00000187306

SMART Domains

Protein: ENSMUSP00000139834
Gene: ENSMUSG00000026309

Domain	Start	End	E-Value	Type
Blast:PP2Cc	7	73	2e-24	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000190998
AA Change: D43G

Predicted Effect

probably benign
Transcript: ENSMUST00000187678

Predicted Effect

probably benign
Transcript: ENSMUST00000190747

SMART Domains

Protein: ENSMUSP00000140905
Gene: ENSMUSG00000026309

Domain	Start	End	E-Value	Type
PP2Cc	1	164	7.3e-27	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice exhibit a delay in recovery from blood loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	G	T	10: 87,061,923 (GRCm39)	E124D	probably benign	Het
Aph1c	T	C	9: 66,741,802 (GRCm39)	T27A	probably benign	Het
Ash2l	T	C	8: 26,309,740 (GRCm39)	I507V	possibly damaging	Het
Cela2a	C	A	4: 141,549,554 (GRCm39)	A74S	probably damaging	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Drc1	A	G	5: 30,520,429 (GRCm39)	D590G	possibly damaging	Het
Epn1	A	G	7: 5,100,303 (GRCm39)	E472G	probably damaging	Het
Ifnar2	T	C	16: 91,190,771 (GRCm39)	C227R	probably damaging	Het
Marchf11	A	G	15: 26,387,949 (GRCm39)	Y268C	probably damaging	Het
Muc16	A	T	9: 18,553,366 (GRCm39)	I4309N	possibly damaging	Het
Nit2	A	G	16: 56,980,493 (GRCm39)	V95A	possibly damaging	Het
Nup205	T	G	6: 35,224,308 (GRCm39)	I2049S	probably benign	Het
Or2h1	T	G	17: 37,404,638 (GRCm39)	I43L	probably damaging	Het
Or7e175	C	T	9: 20,049,378 (GRCm39)	A322V	probably benign	Het
Pcdhb17	T	C	18: 37,618,452 (GRCm39)	S81P	probably damaging	Het
Plcg2	A	G	8: 118,284,086 (GRCm39)	I128V	probably benign	Het
Sem1	C	A	6: 6,578,497 (GRCm39)	E20*	probably null	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Tmem26	T	C	10: 68,559,884 (GRCm39)	L52P	probably damaging	Het
Utp3	T	C	5: 88,703,823 (GRCm39)	Y451H	probably damaging	Het
Vmn2r103	T	A	17: 20,032,239 (GRCm39)	I671N	probably damaging	Het
Zbtb39	T	A	10: 127,579,505 (GRCm39)	I693N	probably damaging	Het
Zfp174	A	G	16: 3,665,921 (GRCm39)	E62G	probably damaging	Het

Other mutations in Erfe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03168:Erfe	APN	1	91,299,164 (GRCm39)	missense	probably damaging	0.99
IGL03247:Erfe	APN	1	91,298,147 (GRCm39)	missense	probably benign	0.14
R5118:Erfe	UTSW	1	91,298,438 (GRCm39)	critical splice donor site	probably null
R6921:Erfe	UTSW	1	91,298,054 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGTTTGAATGCGAGACTACC -3'
(R):5'- TCTGCAGGAATACAGTGGCTATG -3'

Sequencing Primer
(F):5'- CAAACATTGCCTCTGGACTAAGATG -3'
(R):5'- ACAGTGGCTATGGTAAGAGGTATTGC -3'

Posted On

2018-07-24