Mutagenetix > Incidental Mutation

Incidental Mutation 'R3772:Frrs1'

273342

Institutional Source

Beutler Lab

Gene Symbol

Frrs1

Ensembl Gene

ENSMUSG00000033386

Gene Name

ferric-chelate reductase 1

Synonyms

Sdfr2

MMRRC Submission

040748-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R3772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116653212-116701363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 116672036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 45 (S45A)

Ref Sequence

ENSEMBL: ENSMUSP00000143546 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040260
AA Change: S45A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: S45A

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
AA Change: S45A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: S45A

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

possibly damaging
Transcript: ENSMUST00000199626
AA Change: S45A

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143546
Gene: ENSMUSG00000033386
AA Change: S45A

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

Meta Mutation Damage Score

0.2438

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,159,720 (GRCm39)		probably benign	Het
Adgrl1	A	G	8: 84,649,633 (GRCm39)	N97S	possibly damaging	Het
Aldh1a2	A	G	9: 71,160,202 (GRCm39)	D76G	probably damaging	Het
Aldh3a1	A	G	11: 61,105,431 (GRCm39)	E179G	possibly damaging	Het
Ap1g1	A	G	8: 110,564,418 (GRCm39)	D324G	probably damaging	Het
Arfgap2	A	G	2: 91,095,711 (GRCm39)	T12A	probably benign	Het
Aurka	A	G	2: 172,208,880 (GRCm39)	L85P	probably benign	Het
Birc6	T	A	17: 74,925,424 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,712,015 (GRCm39)	I403N	probably damaging	Het
Carns1	A	G	19: 4,220,915 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,932,359 (GRCm39)		probably benign	Het
Ccl2	C	T	11: 81,927,784 (GRCm39)	A76V	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Clstn2	A	G	9: 97,464,615 (GRCm39)	I180T	probably damaging	Het
Col24a1	T	C	3: 145,251,041 (GRCm39)	L1680P	probably damaging	Het
Col4a6	C	A	X: 139,955,196 (GRCm39)	G1416C	probably damaging	Het
Ctnna2	T	G	6: 76,950,752 (GRCm39)	N573T	probably damaging	Het
Cts8	G	A	13: 61,398,715 (GRCm39)		probably benign	Het
Cxcl17	A	G	7: 25,099,754 (GRCm39)		probably benign	Het
Defb18	T	C	1: 18,306,845 (GRCm39)	H37R	possibly damaging	Het
Dis3l2	T	C	1: 86,782,130 (GRCm39)	I229T	probably benign	Het
Dysf	G	A	6: 84,129,333 (GRCm39)	S1474N	possibly damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
F13a1	T	C	13: 37,082,108 (GRCm39)	K532R	probably benign	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Focad	A	C	4: 88,254,398 (GRCm39)		probably benign	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Gm5422	T	A	10: 31,124,510 (GRCm39)		noncoding transcript	Het
Gm5866	T	C	5: 52,740,088 (GRCm39)		noncoding transcript	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Iglon5	A	T	7: 43,130,037 (GRCm39)	Y42*	probably null	Het
Khdrbs2	C	T	1: 32,283,157 (GRCm39)	Q90*	probably null	Het
Krt74	T	C	15: 101,670,630 (GRCm39)		noncoding transcript	Het
Lamc2	T	A	1: 152,999,997 (GRCm39)	M1121L	probably benign	Het
Lrig1	A	G	6: 94,582,798 (GRCm39)	L1073P	probably benign	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Man2c1	C	A	9: 57,047,661 (GRCm39)		probably benign	Het
Megf10	G	A	18: 57,416,934 (GRCm39)	D768N	probably benign	Het
Mycbp2	T	C	14: 103,371,224 (GRCm39)	N4108S	possibly damaging	Het
Nid1	A	G	13: 13,651,003 (GRCm39)		probably benign	Het
Nnt	A	G	13: 119,533,488 (GRCm39)	V59A	probably damaging	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Pag1	G	A	3: 9,764,688 (GRCm39)	T155M	probably benign	Het
Pgam5	T	C	5: 110,413,459 (GRCm39)	H176R	probably damaging	Het
Pid1	T	C	1: 84,015,918 (GRCm39)	D149G	probably damaging	Het
Pkp3	G	A	7: 140,662,259 (GRCm39)	M1I	probably null	Het
Pld2	C	T	11: 70,434,949 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rab9b	T	A	X: 135,762,198 (GRCm39)	E67D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf214	T	C	9: 45,777,932 (GRCm39)	M625V	possibly damaging	Het
Rwdd2a	A	C	9: 86,456,214 (GRCm39)	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Septin10	A	T	10: 59,012,709 (GRCm39)	M303K	probably damaging	Het
Sez6l2	A	G	7: 126,558,375 (GRCm39)	E339G	probably damaging	Het
Sf3b1	C	A	1: 55,039,150 (GRCm39)		probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
St18	A	T	1: 6,914,553 (GRCm39)	K799I	probably damaging	Het
Strada	C	T	11: 106,055,648 (GRCm39)	R333Q	probably damaging	Het
Stradb	A	T	1: 59,024,544 (GRCm39)	I64L	probably benign	Het
Sun1	A	G	5: 139,224,575 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tnk2	A	G	16: 32,498,640 (GRCm39)	D651G	probably damaging	Het
Trim43c	A	T	9: 88,729,810 (GRCm39)	D417V	probably damaging	Het
Tsc22d4	T	C	5: 137,757,495 (GRCm39)	L374P	possibly damaging	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ubr4	T	C	4: 139,180,011 (GRCm39)	V262A	possibly damaging	Het
Vmn2r60	A	T	7: 41,765,980 (GRCm39)	N29I	probably benign	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	C	T	15: 88,664,990 (GRCm39)	P353S	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zwilch	A	T	9: 64,063,316 (GRCm39)	F286I	probably benign	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
IGL01504:Frrs1	APN	3	116,694,307 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGCCTTGTGTTATGAAAACTGT -3'
(R):5'- ACAAATACTGAGAGAATCTAGCCA -3'

Sequencing Primer
(F):5'- CTTGTGTTATGAAAACTGTCATGTTG -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'

Posted On

2015-03-25