Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Frrs1'

180228

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: 0.151) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

116859464-116908177 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116885239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 237 (G237R)

Ref Sequence

ENSEMBL: ENSMUSP00000143255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040260] [ENSMUST00000195905] [ENSMUST00000199626]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040260
AA Change: G237R

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

SMART Domains

Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: G237R

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

probably damaging
Transcript: ENSMUST00000195905
AA Change: G237R

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

SMART Domains

Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: G237R

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

probably benign
Transcript: ENSMUST00000199626

SMART Domains

Protein: ENSMUSP00000143546
Gene: ENSMUSG00000033386

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,223,986		probably benign	Het
Adamts13	A	G	2: 26,996,583	E938G	possibly damaging	Het
Aox2	C	T	1: 58,287,743	T167I	possibly damaging	Het
Apba3	G	T	10: 81,273,073	A557S	probably benign	Het
Atad2b	T	C	12: 5,034,093	L1382P	probably damaging	Het
Atrn	C	T	2: 130,935,565	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,166,761	S88G	probably benign	Het
Baz2b	T	C	2: 59,935,271	K887E	probably damaging	Het
Ccdc162	A	C	10: 41,569,887	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,317,453		probably benign	Het
Chit1	A	G	1: 134,149,410	D317G	probably benign	Het
Chrnb1	A	T	11: 69,795,019		probably benign	Het
Cobl	G	T	11: 12,254,596	T620K	probably benign	Het
Creld1	T	C	6: 113,483,960	F20L	probably benign	Het
Csmd2	A	T	4: 128,559,947	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,372,629	D259G	probably benign	Het
Dbnl	A	G	11: 5,797,142	Y224C	probably damaging	Het
Det1	A	T	7: 78,843,823	C144*	probably null	Het
Fbxo47	G	T	11: 97,856,160	A360D	probably damaging	Het
Gatsl2	T	C	5: 134,135,602	F134S	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm4788	G	A	1: 139,739,206	L444F	probably damaging	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Gria2	T	C	3: 80,710,331	T372A	probably benign	Het
Hmcn2	A	T	2: 31,398,917	Q2246L	probably benign	Het
Ide	T	C	19: 37,272,164	M930V	unknown	Het
Kdm5a	T	C	6: 120,394,255		probably null	Het
Khnyn	A	G	14: 55,894,969	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,244,186	F209L	possibly damaging	Het
Med13	C	A	11: 86,308,696		probably benign	Het
Myom2	A	G	8: 15,069,685	E147G	probably benign	Het
Myrip	T	A	9: 120,388,264	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,631,414	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,320,830	C247*	probably null	Het
Nup54	G	A	5: 92,424,435	P252L	probably benign	Het
Olfr610	A	G	7: 103,506,796	I50T	possibly damaging	Het
Otoa	C	A	7: 121,105,968	N244K	probably damaging	Het
Pbrm1	G	A	14: 31,082,604	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,898,427	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,270,304	L233H	probably damaging	Het
Sec24c	T	A	14: 20,689,689	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,404,825		probably null	Het
Slitrk1	G	A	14: 108,911,239	A680V	probably benign	Het
Smpd1	C	T	7: 105,555,448	S178L	probably benign	Het
Spindoc	A	G	19: 7,382,677	L42P	probably damaging	Het
Tenm4	A	G	7: 96,895,212	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,839,194	A18E	probably damaging	Het
Tmem213	A	T	6: 38,109,438	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,430,343	I102L	probably benign	Het
Trip11	T	G	12: 101,886,884	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385	R1056*	probably null	Het
Wdr27	T	G	17: 14,917,226	K433N	probably damaging	Het
Wls	C	A	3: 159,901,443	S189*	probably null	Het
Yeats2	A	G	16: 20,206,167	N706D	probably damaging	Het
Zbp1	A	G	2: 173,212,254	V158A	probably benign	Het
Zfp595	G	T	13: 67,317,783	H139N	possibly damaging	Het

Other mutations in Frrs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Frrs1	APN	3	116902400	missense	probably damaging	1.00
IGL00792:Frrs1	APN	3	116885295	splice site	probably null
IGL01395:Frrs1	APN	3	116901005	missense	probably benign	0.02
IGL01504:Frrs1	APN	3	116900658	missense	probably damaging	1.00
IGL01548:Frrs1	APN	3	116885185	missense	probably damaging	1.00
IGL03037:Frrs1	APN	3	116902467	unclassified	probably benign
IGL03104:Frrs1	APN	3	116881782	missense	probably benign	0.00
IGL03143:Frrs1	APN	3	116899187	missense	probably damaging	0.99
R0023:Frrs1	UTSW	3	116896788	missense	probably damaging	1.00
R0023:Frrs1	UTSW	3	116896788	missense	probably damaging	1.00
R0051:Frrs1	UTSW	3	116885297	splice site	probably benign
R0051:Frrs1	UTSW	3	116885297	splice site	probably benign
R0107:Frrs1	UTSW	3	116896716	missense	probably damaging	0.97
R0138:Frrs1	UTSW	3	116881807	missense	possibly damaging	0.65
R0532:Frrs1	UTSW	3	116883164	missense	probably benign
R0646:Frrs1	UTSW	3	116902421	missense	possibly damaging	0.50
R1534:Frrs1	UTSW	3	116878408	missense	probably benign	0.14
R1596:Frrs1	UTSW	3	116883199	intron	probably benign
R1880:Frrs1	UTSW	3	116896795	critical splice donor site	probably null
R2193:Frrs1	UTSW	3	116878345	missense	probably damaging	1.00
R2851:Frrs1	UTSW	3	116885129	missense	probably benign	0.00
R3177:Frrs1	UTSW	3	116899224	missense	probably damaging	1.00
R3277:Frrs1	UTSW	3	116899224	missense	probably damaging	1.00
R3772:Frrs1	UTSW	3	116878387	missense	possibly damaging	0.71
R4457:Frrs1	UTSW	3	116896728	missense	probably benign	0.10
R4887:Frrs1	UTSW	3	116902416	makesense	probably null
R4957:Frrs1	UTSW	3	116885248	missense	probably benign	0.00
R5015:Frrs1	UTSW	3	116878439	missense	probably damaging	1.00
R5080:Frrs1	UTSW	3	116902936	missense	probably benign	0.02
R5256:Frrs1	UTSW	3	116903100	missense	possibly damaging	0.88
R5280:Frrs1	UTSW	3	116880896	missense	probably benign	0.00
R5597:Frrs1	UTSW	3	116878238	start gained	probably benign
R5887:Frrs1	UTSW	3	116896750	missense	probably benign	0.32
R6210:Frrs1	UTSW	3	116878431	missense	probably benign	0.19
R6268:Frrs1	UTSW	3	116903099	missense	probably damaging	0.98
R6378:Frrs1	UTSW	3	116900990	missense	possibly damaging	0.95
R7165:Frrs1	UTSW	3	116878271	missense	probably benign	0.18
R7220:Frrs1	UTSW	3	116880776	nonsense	probably null
R7301:Frrs1	UTSW	3	116895563	missense	possibly damaging	0.47
R7312:Frrs1	UTSW	3	116881777	missense	probably damaging	1.00
R7862:Frrs1	UTSW	3	116891880	missense	possibly damaging	0.83
R8032:Frrs1	UTSW	3	116878360	missense	probably benign	0.00
R8114:Frrs1	UTSW	3	116881776	missense	probably damaging	0.97
R8283:Frrs1	UTSW	3	116878303	missense	probably benign	0.01
R8353:Frrs1	UTSW	3	116899173	missense	possibly damaging	0.81
R8923:Frrs1	UTSW	3	116902421	missense	possibly damaging	0.50
R9302:Frrs1	UTSW	3	116899250	critical splice donor site	probably null
R9336:Frrs1	UTSW	3	116890933	missense	probably benign
R9455:Frrs1	UTSW	3	116902323	missense	possibly damaging	0.93
X0063:Frrs1	UTSW	3	116902422	missense	possibly damaging	0.67
Z1177:Frrs1	UTSW	3	116881818	missense	probably damaging	0.96

Posted On

2014-05-07