Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Frrs1'

22089

Institutional Source

Beutler Lab

Gene Symbol

Frrs1

Ensembl Gene

ENSMUSG00000033386

Gene Name

ferric-chelate reductase 1

Synonyms

Sdfr2

MMRRC Submission

038423-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116859464-116908177 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116881807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 128 (V128A)

Ref Sequence

ENSEMBL: ENSMUSP00000143255 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040260
AA Change: V128A

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: V128A

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: V128A

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: V128A

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

Meta Mutation Damage Score

0.2230

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,105,449	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,693,607	V845D	probably damaging	Het
Anxa8	T	A	14: 34,097,939	F269Y	probably benign	Het
Anxa8	T	A	14: 34,097,940	F295L	possibly damaging	Het
Aox4	C	G	1: 58,228,866	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,909,869	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843		probably benign	Het
Arhgef26	C	T	3: 62,448,259	H751Y	probably benign	Het
Asic4	A	T	1: 75,469,687	Q291L	possibly damaging	Het
Bap1	T	C	14: 31,256,724	Y31H	probably damaging	Het
Brf1	A	T	12: 112,961,139	V655D	probably damaging	Het
Cebpz	A	G	17: 78,931,391	S663P	probably benign	Het
Ces2h	A	G	8: 105,018,061	D357G	probably benign	Het
Cfap36	T	C	11: 29,244,073	T90A	probably benign	Het
Ciita	A	T	16: 10,512,270	D803V	probably damaging	Het
Clnk	C	A	5: 38,774,608		probably benign	Het
Cyp46a1	A	G	12: 108,351,211	N158S	probably damaging	Het
Cyp4f13	A	G	17: 32,941,106	I98T	possibly damaging	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Dll3	T	A	7: 28,301,321	D103V	possibly damaging	Het
Dnaic1	T	A	4: 41,629,814	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,291,062	T85S	probably benign	Het
Eif4g1	A	T	16: 20,675,345	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Fn1	T	A	1: 71,624,110	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 47,869,179	D599G	unknown	Het
Gcfc2	G	A	6: 81,949,954	D608N	probably damaging	Het
Gm1043	T	C	5: 37,192,973		probably benign	Het
Gm5148	T	C	3: 37,714,777	E98G	probably benign	Het
Gpr141	T	C	13: 19,752,258	I116V	probably benign	Het
Hic1	T	C	11: 75,167,343	N240S	probably damaging	Het
Hpx	G	A	7: 105,592,238	T322I	probably damaging	Het
Hs3st4	A	T	7: 124,397,193	M361L	probably benign	Het
Ifrd1	A	G	12: 40,207,130		probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Klk1b21	T	A	7: 44,105,895	C173S	probably damaging	Het
Krt25	A	T	11: 99,322,698	V65E	probably benign	Het
Lrrc15	A	T	16: 30,273,449	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,851,345	V550E	probably benign	Het
Macf1	A	G	4: 123,440,747	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,196,916		probably benign	Het
Mcm5	T	A	8: 75,120,880	V435D	probably damaging	Het
Mctp1	C	T	13: 76,827,712	R478C	probably damaging	Het
Med10	T	C	13: 69,811,698		probably benign	Het
Mrpl4	T	C	9: 21,008,592	Y280H	probably benign	Het
Msrb3	T	C	10: 120,851,987	E61G	probably damaging	Het
Myo1c	T	C	11: 75,661,001	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,010,151	T165S	probably damaging	Het
Myrfl	T	A	10: 116,849,233	R81W	probably damaging	Het
Neil1	T	C	9: 57,143,746		probably benign	Het
Neto2	A	G	8: 85,641,044	I357T	possibly damaging	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,153,591	S3P	probably benign	Het
Olfr652	A	T	7: 104,565,003	I261L	probably benign	Het
Plce1	T	C	19: 38,524,419	I54T	possibly damaging	Het
Prex2	A	T	1: 11,285,043		probably benign	Het
Psapl1	T	A	5: 36,204,631	V189E	probably damaging	Het
Ptdss2	T	G	7: 141,155,319		probably benign	Het
Rnf213	T	C	11: 119,416,496	C661R	probably benign	Het
Rpap1	T	C	2: 119,764,899		probably null	Het
Rrp1b	A	G	17: 32,060,452	T696A	probably benign	Het
Sacm1l	T	A	9: 123,548,917	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,377,530	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,299,684	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,568,614		probably benign	Het
Tpst1	T	A	5: 130,101,786	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,599,626	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,501,315	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,262,334	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,837,624	T616S	probably damaging	Het
Vps13a	G	A	19: 16,660,499	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,436,041	M328L	probably benign	Het
Zp2	A	G	7: 120,137,200	F340S	probably 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
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
R0051:Frrs1	UTSW	3	116885297	splice site	probably benign
R0107:Frrs1	UTSW	3	116896716	missense	probably damaging	0.97
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

Predicted Primers

PCR Primer
(F):5'- CATGCTATCACACATTCGGAGGTCAG -3'
(R):5'- GCCCCTTAAGCATCAAGTTCTGCC -3'

Sequencing Primer
(F):5'- GAAgagatcagaagataactttgtgg -3'
(R):5'- tgggagtcagaagcaggag -3'

Posted On

2013-04-12