Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01504:Frrs1'

88983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frrs1

Ensembl Gene

ENSMUSG00000033386

Gene Name

ferric-chelate reductase 1

Synonyms

Sdfr2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

IGL01504

Quality Score

Status

Chromosome

Chromosomal Location

116653212-116701363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 116694307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 76 (Q76K)

Ref Sequence

ENSEMBL: ENSMUSP00000142793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040260] [ENSMUST00000195905] [ENSMUST00000199030]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040260
AA Change: Q460K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: Q460K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Reeler	32	155	1.1e-34	PFAM
low complexity region	171	184	N/A	INTRINSIC
DoH	242	331	7.72e-9	SMART
B561	372	501	1.87e-42	SMART
transmembrane domain	514	536	N/A	INTRINSIC
transmembrane domain	570	589	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195905
AA Change: Q460K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: Q460K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Reeler	31	156	4.6e-40	PFAM
low complexity region	171	184	N/A	INTRINSIC
DoH	242	331	7.72e-9	SMART
B561	372	501	1.87e-42	SMART
transmembrane domain	514	536	N/A	INTRINSIC
transmembrane domain	570	589	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197323

Predicted Effect

probably damaging
Transcript: ENSMUST00000199030
AA Change: Q76K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142793
Gene: ENSMUSG00000033386
AA Change: Q76K

Domain	Start	End	E-Value	Type
B561	1	99	1.5e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199584

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,284,231 (GRCm39)	I326N	probably damaging	Het
Acot6	G	A	12: 84,156,176 (GRCm39)	V375M	probably benign	Het
Als2cl	G	A	9: 110,718,351 (GRCm39)	R364Q	probably benign	Het
Cpa1	A	T	6: 30,640,720 (GRCm39)	T121S	probably benign	Het
Ctnnbl1	A	G	2: 157,660,036 (GRCm39)		probably benign	Het
Gja10	T	A	4: 32,602,375 (GRCm39)	D3V	probably damaging	Het
Insyn2a	T	A	7: 134,519,669 (GRCm39)	Q287L	probably benign	Het
Krt76	T	C	15: 101,796,608 (GRCm39)	E400G	probably damaging	Het
Mdm1	A	G	10: 117,982,505 (GRCm39)	T47A	probably damaging	Het
Ncf2	A	G	1: 152,709,080 (GRCm39)	K336R	probably benign	Het
Ndrg4	C	A	8: 96,432,894 (GRCm39)	L34I	probably damaging	Het
Phf20l1	T	A	15: 66,469,540 (GRCm39)	H148Q	possibly damaging	Het
Rhobtb1	A	G	10: 69,085,528 (GRCm39)	H89R	probably damaging	Het
Sult1e1	T	C	5: 87,724,160 (GRCm39)	N266D	probably damaging	Het
Sult2a2	T	C	7: 13,472,189 (GRCm39)	S129P	probably damaging	Het
Trank1	A	G	9: 111,202,612 (GRCm39)	E1659G	probably damaging	Het
Trpa1	T	G	1: 14,952,443 (GRCm39)	I863L	possibly damaging	Het
Vmn1r177	C	T	7: 23,565,835 (GRCm39)	V14M	probably damaging	Het
Vmn2r14	A	T	5: 109,369,285 (GRCm39)	M96K	probably benign	Het
Zp1	C	T	19: 10,896,375 (GRCm39)	V117M	probably damaging	Het

Other mutations in Frrs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Frrs1	APN	3	116,696,049 (GRCm39)	missense	probably damaging	1.00
IGL00792:Frrs1	APN	3	116,678,944 (GRCm39)	splice site	probably null
IGL01395:Frrs1	APN	3	116,694,654 (GRCm39)	missense	probably benign	0.02
IGL01548:Frrs1	APN	3	116,678,834 (GRCm39)	missense	probably damaging	1.00
IGL01924:Frrs1	APN	3	116,678,888 (GRCm39)	missense	probably damaging	1.00
IGL03037:Frrs1	APN	3	116,696,116 (GRCm39)	unclassified	probably benign
IGL03104:Frrs1	APN	3	116,675,431 (GRCm39)	missense	probably benign	0.00
IGL03143:Frrs1	APN	3	116,692,836 (GRCm39)	missense	probably damaging	0.99
R0023:Frrs1	UTSW	3	116,690,437 (GRCm39)	missense	probably damaging	1.00
R0023:Frrs1	UTSW	3	116,690,437 (GRCm39)	missense	probably damaging	1.00
R0051:Frrs1	UTSW	3	116,678,946 (GRCm39)	splice site	probably benign
R0051:Frrs1	UTSW	3	116,678,946 (GRCm39)	splice site	probably benign
R0107:Frrs1	UTSW	3	116,690,365 (GRCm39)	missense	probably damaging	0.97
R0138:Frrs1	UTSW	3	116,675,456 (GRCm39)	missense	possibly damaging	0.65
R0532:Frrs1	UTSW	3	116,676,813 (GRCm39)	missense	probably benign
R0646:Frrs1	UTSW	3	116,696,070 (GRCm39)	missense	possibly damaging	0.50
R1534:Frrs1	UTSW	3	116,672,057 (GRCm39)	missense	probably benign	0.14
R1596:Frrs1	UTSW	3	116,676,848 (GRCm39)	intron	probably benign
R1880:Frrs1	UTSW	3	116,690,444 (GRCm39)	critical splice donor site	probably null
R2193:Frrs1	UTSW	3	116,671,994 (GRCm39)	missense	probably damaging	1.00
R2851:Frrs1	UTSW	3	116,678,778 (GRCm39)	missense	probably benign	0.00
R3177:Frrs1	UTSW	3	116,692,873 (GRCm39)	missense	probably damaging	1.00
R3277:Frrs1	UTSW	3	116,692,873 (GRCm39)	missense	probably damaging	1.00
R3772:Frrs1	UTSW	3	116,672,036 (GRCm39)	missense	possibly damaging	0.71
R4457:Frrs1	UTSW	3	116,690,377 (GRCm39)	missense	probably benign	0.10
R4887:Frrs1	UTSW	3	116,696,065 (GRCm39)	makesense	probably null
R4957:Frrs1	UTSW	3	116,678,897 (GRCm39)	missense	probably benign	0.00
R5015:Frrs1	UTSW	3	116,672,088 (GRCm39)	missense	probably damaging	1.00
R5080:Frrs1	UTSW	3	116,696,585 (GRCm39)	missense	probably benign	0.02
R5256:Frrs1	UTSW	3	116,696,749 (GRCm39)	missense	possibly damaging	0.88
R5280:Frrs1	UTSW	3	116,674,545 (GRCm39)	missense	probably benign	0.00
R5597:Frrs1	UTSW	3	116,671,887 (GRCm39)	start gained	probably benign
R5887:Frrs1	UTSW	3	116,690,399 (GRCm39)	missense	probably benign	0.32
R6210:Frrs1	UTSW	3	116,672,080 (GRCm39)	missense	probably benign	0.19
R6268:Frrs1	UTSW	3	116,696,748 (GRCm39)	missense	probably damaging	0.98
R6378:Frrs1	UTSW	3	116,694,639 (GRCm39)	missense	possibly damaging	0.95
R7165:Frrs1	UTSW	3	116,671,920 (GRCm39)	missense	probably benign	0.18
R7220:Frrs1	UTSW	3	116,674,425 (GRCm39)	nonsense	probably null
R7301:Frrs1	UTSW	3	116,689,212 (GRCm39)	missense	possibly damaging	0.47
R7312:Frrs1	UTSW	3	116,675,426 (GRCm39)	missense	probably damaging	1.00
R7862:Frrs1	UTSW	3	116,685,529 (GRCm39)	missense	possibly damaging	0.83
R8032:Frrs1	UTSW	3	116,672,009 (GRCm39)	missense	probably benign	0.00
R8114:Frrs1	UTSW	3	116,675,425 (GRCm39)	missense	probably damaging	0.97
R8283:Frrs1	UTSW	3	116,671,952 (GRCm39)	missense	probably benign	0.01
R8353:Frrs1	UTSW	3	116,692,822 (GRCm39)	missense	possibly damaging	0.81
R8923:Frrs1	UTSW	3	116,696,070 (GRCm39)	missense	possibly damaging	0.50
R9302:Frrs1	UTSW	3	116,692,899 (GRCm39)	critical splice donor site	probably null
R9336:Frrs1	UTSW	3	116,684,582 (GRCm39)	missense	probably benign
R9455:Frrs1	UTSW	3	116,695,972 (GRCm39)	missense	possibly damaging	0.93
X0063:Frrs1	UTSW	3	116,696,071 (GRCm39)	missense	possibly damaging	0.67
Z1177:Frrs1	UTSW	3	116,675,467 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-12-03