Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03168:Erfe'

411721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erfe

Ensembl Gene

ENSMUSG00000047443

Gene Name

erythroferrone

Synonyms

Fam132b, myonectin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03168

Quality Score

Status

Chromosome

Chromosomal Location

91294152-91301939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 91299164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 302 (N302K)

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: N302K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084073
Gene: ENSMUSG00000047443
AA Change: N302K

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: N27K

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	T	C	13: 4,486,280 (GRCm39)	V29A	probably benign	Het
Ankk1	C	A	9: 49,327,068 (GRCm39)	A704S	possibly damaging	Het
Aph1c	G	A	9: 66,740,619 (GRCm39)		probably benign	Het
Arglu1	T	A	8: 8,733,960 (GRCm39)	I119L	probably benign	Het
Brwd1	A	T	16: 95,818,877 (GRCm39)	S1318R	possibly damaging	Het
Calhm4	C	T	10: 33,917,552 (GRCm39)	V300I	probably benign	Het
Chd3	A	G	11: 69,239,741 (GRCm39)		probably benign	Het
Colq	T	C	14: 31,246,377 (GRCm39)	Y445C	probably damaging	Het
Cyp2a4	A	T	7: 26,012,975 (GRCm39)		probably benign	Het
Cyp2j7	C	T	4: 96,118,274 (GRCm39)	M106I	probably benign	Het
Fggy	A	T	4: 95,815,046 (GRCm39)		probably benign	Het
Gata3	A	G	2: 9,873,625 (GRCm39)	Y290H	probably damaging	Het
Grik4	T	C	9: 42,582,539 (GRCm39)	T136A	probably damaging	Het
Hc	G	T	2: 34,914,210 (GRCm39)	N832K	probably benign	Het
Jhy	A	T	9: 40,828,848 (GRCm39)	S353T	possibly damaging	Het
Krt40	T	A	11: 99,433,854 (GRCm39)	Q44L	possibly damaging	Het
Ksr2	T	C	5: 117,886,846 (GRCm39)	F794S	probably damaging	Het
Or2l13	A	T	16: 19,305,969 (GRCm39)	H127L	probably benign	Het
Or2n1e	A	C	17: 38,585,682 (GRCm39)	S7R	probably damaging	Het
Or4p7	A	G	2: 88,221,938 (GRCm39)	M116V	probably damaging	Het
Or5ac16	A	G	16: 59,022,610 (GRCm39)	Y60H	probably damaging	Het
Or5t9	A	G	2: 86,659,607 (GRCm39)	I170M	possibly damaging	Het
Or8b1c	A	G	9: 38,384,315 (GRCm39)	T91A	probably benign	Het
Pcdhb17	A	G	18: 37,618,825 (GRCm39)	E205G	probably benign	Het
Pon3	A	T	6: 5,256,177 (GRCm39)	I17K	possibly damaging	Het
Prkd2	A	G	7: 16,584,188 (GRCm39)	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,652,030 (GRCm39)	I3806V	probably benign	Het
Qpct	C	A	17: 79,359,753 (GRCm39)	A20E	unknown	Het
Rap1a	A	G	3: 105,657,587 (GRCm39)	S11P	probably damaging	Het
Rnf145	C	A	11: 44,445,985 (GRCm39)	T273K	probably damaging	Het
Speg	T	C	1: 75,364,831 (GRCm39)	I298T	probably damaging	Het
Syt6	G	A	3: 103,494,943 (GRCm39)	V303M	probably damaging	Het
Tpr	A	G	1: 150,284,508 (GRCm39)	I324M	probably benign	Het
Uggt2	A	G	14: 119,315,080 (GRCm39)	F330L	probably damaging	Het
Unc45a	A	T	7: 79,982,881 (GRCm39)	L348Q	probably damaging	Het
Vmn1r17	T	A	6: 57,337,583 (GRCm39)	I212F	probably benign	Het
Vmn2r68	A	C	7: 84,870,972 (GRCm39)	N770K	probably damaging	Het
Zfhx3	T	C	8: 109,673,132 (GRCm39)	V1394A	probably damaging	Het

Other mutations in Erfe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6710:Erfe	UTSW	1	91,300,128 (GRCm39)	missense	probably damaging	1.00
R6921:Erfe	UTSW	1	91,298,054 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02