Mutagenetix > Incidental Mutations

Incidental Mutation 'R0051:Frrs1'

64274

Institutional Source

Beutler Lab

Gene Symbol

Frrs1

Ensembl Gene

ENSMUSG00000033386

Gene Name

ferric-chelate reductase 1

Synonyms

Sdfr2

MMRRC Submission

038345-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R0051 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

116859464-116908177 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 116885297 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143546 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040260

SMART Domains

Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386

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 benign
Transcript: ENSMUST00000195905

SMART Domains

Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386

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

1x: 99.2%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

100% (64/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,579,101		noncoding transcript	Het
Abr	T	A	11: 76,472,502	Q163L	probably benign	Het
AI314180	A	G	4: 58,832,729	L877S	probably damaging	Het
Ankrd11	C	A	8: 122,889,742	C2457F	probably damaging	Het
Anks3	G	C	16: 4,947,749	T163S	probably benign	Het
Cacna1d	G	A	14: 30,111,095	P908S	probably damaging	Het
Ccdc146	C	A	5: 21,316,904	R374L	possibly damaging	Het
Cdc45	G	T	16: 18,794,774	A348E	probably damaging	Het
Cfap46	A	G	7: 139,676,035	C300R	probably damaging	Het
Coq2	T	C	5: 100,663,685	N146S	probably benign	Het
Dalrd3	T	C	9: 108,572,215	V120A	possibly damaging	Het
Dcp2	T	A	18: 44,405,374		probably benign	Het
Ddx39	A	G	8: 83,720,622	K137R	possibly damaging	Het
Diaph3	A	G	14: 87,037,454		probably null	Het
Dmbt1	G	T	7: 131,119,496	R1668L	possibly damaging	Het
Dnah7a	T	G	1: 53,521,086		probably benign	Het
Dpp7	A	G	2: 25,356,095	Y49H	possibly damaging	Het
Drd5	A	G	5: 38,320,614	S317G	probably benign	Het
Ecsit	C	T	9: 22,076,288	V152I	probably benign	Het
Emc1	T	A	4: 139,375,163	M923K	possibly damaging	Het
Fam102a	G	A	2: 32,558,053	R58Q	possibly damaging	Het
Fcrl6	A	T	1: 172,598,753	L159Q	probably benign	Het
Hspd1	A	G	1: 55,082,046		probably benign	Het
Impg2	T	A	16: 56,258,048	S458T	probably damaging	Het
Klf17	T	C	4: 117,760,392	Y256C	probably damaging	Het
Lnx2	A	G	5: 147,029,353	F319L	probably damaging	Het
Mafg	G	T	11: 120,629,604	R57S	probably damaging	Het
Med13l	T	A	5: 118,742,655	W1271R	probably damaging	Het
Mrgprb1	A	G	7: 48,447,214	S24P	probably benign	Het
Mtrf1l	T	C	10: 5,813,384	E315G	probably damaging	Het
Naip1	T	C	13: 100,411,001	E1239G	probably damaging	Het
Ncaph2	T	C	15: 89,369,664	S320P	probably damaging	Het
Nek11	A	G	9: 105,218,539		probably benign	Het
Nlrp2	A	T	7: 5,322,334		probably benign	Het
Odf3	C	A	7: 140,850,221		probably benign	Het
Rbm26	A	C	14: 105,152,540	V216G	possibly damaging	Het
Rnf115	A	G	3: 96,785,022	D178G	probably damaging	Het
Rtel1	C	T	2: 181,350,656	Q424*	probably null	Het
Rwdd4a	A	G	8: 47,537,365		probably benign	Het
Ryr3	T	C	2: 112,869,075	D890G	probably damaging	Het
Scarb1	C	A	5: 125,281,100		probably null	Het
Serpina10	A	G	12: 103,626,897		probably benign	Het
Slc12a5	T	A	2: 164,986,663	W508R	probably damaging	Het
Slc43a2	T	C	11: 75,562,850	C225R	probably damaging	Het
Slc6a9	T	C	4: 117,864,859	F440L	probably damaging	Het
Stac3	G	A	10: 127,508,148	R305H	probably damaging	Het
Stk32b	A	G	5: 37,459,596		probably benign	Het
Syna	A	T	5: 134,559,543	L184H	probably damaging	Het
Tmprss7	T	C	16: 45,673,939	N401S	probably damaging	Het
Yeats2	T	A	16: 20,193,724	Y557*	probably null	Het
Zcchc11	T	G	4: 108,527,004	S1089R	probably damaging	Het
Zfp352	T	C	4: 90,224,285	S221P	probably damaging	Het
Zfp575	A	G	7: 24,586,087	V43A	probably benign	Het
Zfp775	A	G	6: 48,620,772	T527A	probably benign	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
IGL01924:Frrs1	APN	3	116885239	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
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
X0063:Frrs1	UTSW	3	116902422	missense	possibly damaging	0.67
Z1177:Frrs1	UTSW	3	116881818	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTCAGTGCCTTCGAGTGTGGGAAC -3'
(R):5'- ACTTGGCACACAGGAACGTAAGTC -3'

Sequencing Primer
(F):5'- CAAGAAGTTCTGTGTCAGGAGTC -3'
(R):5'- GCAGCCTGCTCTTAGAAATAACTG -3'

Posted On

2013-08-06