Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Frrs1'

376953

Institutional Source

Beutler Lab

Gene Symbol

Frrs1

Ensembl Gene

ENSMUSG00000033386

Gene Name

ferric-chelate reductase 1

Synonyms

Sdfr2

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

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

Stock #

R4887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116653212-116701363 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 116696065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 124 (*124W)

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: E528G

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: E528G

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: E528G

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: E528G

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 null
Transcript: ENSMUST00000199030
AA Change: *124W

SMART Domains

Protein: ENSMUSP00000142793
Gene: ENSMUSG00000033386
AA Change: *124W

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	C	1: 138,779,903 (GRCm39)	Y116*	probably null	Het
Abtb3	C	T	10: 85,223,242 (GRCm39)	T17M	unknown	Het
Acer3	T	C	7: 97,906,908 (GRCm39)	T91A	possibly damaging	Het
Acsbg3	A	T	17: 57,183,324 (GRCm39)	I22F	possibly damaging	Het
Adam12	T	C	7: 133,774,550 (GRCm39)	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,223,822 (GRCm39)	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,330,374 (GRCm39)	V98I	probably benign	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Alpk1	C	T	3: 127,467,124 (GRCm39)	G1052R	probably damaging	Het
Anln	A	T	9: 22,291,484 (GRCm39)	S115T	possibly damaging	Het
Apob	T	A	12: 8,063,099 (GRCm39)	N3827K	probably damaging	Het
Aqr	G	A	2: 113,980,990 (GRCm39)	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,231,617 (GRCm39)	S123G	probably damaging	Het
Arvcf	C	T	16: 18,216,863 (GRCm39)	R333*	probably null	Het
Brca2	T	A	5: 150,480,402 (GRCm39)	L2724Q	probably damaging	Het
C2cd6	T	A	1: 59,133,893 (GRCm39)	T43S	probably benign	Het
Cacna1h	A	G	17: 25,596,261 (GRCm39)	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,858 (GRCm39)	I26F	possibly damaging	Het
Card10	A	T	15: 78,665,724 (GRCm39)	V673E	possibly damaging	Het
Catspere2	A	G	1: 177,931,515 (GRCm39)	Y478C	unknown	Het
Ccar1	A	G	10: 62,588,997 (GRCm39)	S829P	unknown	Het
Ccdc121	A	G	5: 31,643,596 (GRCm39)	I109V	probably benign	Het
Cdc42bpa	T	C	1: 179,972,200 (GRCm39)	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,220,257 (GRCm39)	C267Y	probably benign	Het
Cep68	G	A	11: 20,189,239 (GRCm39)	T591M	probably benign	Het
Chil4	T	C	3: 106,111,460 (GRCm39)	K218R	probably benign	Het
Cldn14	G	T	16: 93,716,747 (GRCm39)	T33K	possibly damaging	Het
Copa	T	A	1: 171,919,843 (GRCm39)	C140S	probably benign	Het
Coq6	T	C	12: 84,419,070 (GRCm39)	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,521,816 (GRCm39)	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,474,093 (GRCm39)	S414A	probably benign	Het
Dpm1	T	C	2: 168,059,679 (GRCm39)	N139S	probably benign	Het
Dpp7	T	A	2: 25,242,770 (GRCm39)		probably null	Het
Ednrb	T	C	14: 104,057,447 (GRCm39)	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Fam135a	G	A	1: 24,063,334 (GRCm39)	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866 (GRCm39)	T275A	probably benign	Het
Fbn1	T	A	2: 125,151,694 (GRCm39)	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,409,527 (GRCm39)	S587P	unknown	Het
Foxr2	A	G	X: 151,913,312 (GRCm39)	Q61R	probably damaging	Het
Gm7535	T	A	17: 18,131,333 (GRCm39)		probably benign	Het
H4c1	T	C	13: 23,944,935 (GRCm39)	D69G	probably damaging	Het
Herc3	T	C	6: 58,864,484 (GRCm39)	V706A	probably damaging	Het
Hivep3	A	G	4: 119,980,131 (GRCm39)	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,233,946 (GRCm39)	I382V	probably benign	Het
Ints1	G	T	5: 139,756,911 (GRCm39)	T467N	possibly damaging	Het
Iqca1	G	A	1: 89,973,423 (GRCm39)	T783M	probably damaging	Het
Kng1	A	G	16: 22,886,448 (GRCm39)	K131R	possibly damaging	Het
Krt35	T	C	11: 99,983,956 (GRCm39)	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 101,943,881 (GRCm39)	C64R	probably damaging	Het
Lilrb4b	C	T	10: 51,360,616 (GRCm39)	A272V	possibly damaging	Het
Lrrc37	T	C	11: 103,505,698 (GRCm39)	H2090R	probably benign	Het
Ltn1	A	T	16: 87,195,697 (GRCm39)	C1276*	probably null	Het
Matn1	G	A	4: 130,679,425 (GRCm39)	A360T	probably benign	Het
Minpp1	G	A	19: 32,475,784 (GRCm39)	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904 (GRCm39)	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,195,616 (GRCm39)		probably benign	Het
Ms4a2	A	G	19: 11,595,793 (GRCm39)	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,013,913 (GRCm39)	Y235*	probably null	Het
Myh4	G	T	11: 67,131,880 (GRCm39)	W113C	probably damaging	Het
Nav2	T	A	7: 49,198,182 (GRCm39)	C1270*	probably null	Het
Ncoa5	A	G	2: 164,844,070 (GRCm39)	L111P	probably damaging	Het
Nup107	T	C	10: 117,606,383 (GRCm39)	Y453C	probably damaging	Het
Oca2	C	T	7: 55,980,106 (GRCm39)	Q604*	probably null	Het
Or13a19	T	C	7: 139,903,014 (GRCm39)	M134T	probably benign	Het
Or13p5	A	C	4: 118,591,885 (GRCm39)	H53P	probably benign	Het
Or14j10	A	T	17: 37,934,782 (GRCm39)	V248D	probably damaging	Het
Or5p58	T	A	7: 107,694,303 (GRCm39)	N158I	probably benign	Het
Or8g33	T	C	9: 39,337,531 (GRCm39)	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,416,668 (GRCm39)	G514V	possibly damaging	Het
Pik3cb	A	T	9: 98,983,381 (GRCm39)	C76S	probably damaging	Het
Plk1	T	C	7: 121,767,828 (GRCm39)	V411A	probably damaging	Het
Pole	C	T	5: 110,472,619 (GRCm39)	P1600L	probably damaging	Het
Prr36	T	C	8: 4,260,881 (GRCm39)	T979A	probably benign	Het
Rdh7	T	A	10: 127,721,590 (GRCm39)	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,842,835 (GRCm39)	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,530,891 (GRCm39)	S947T	probably benign	Het
Rtl1	A	G	12: 109,558,138 (GRCm39)	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,841,708 (GRCm39)	M279I	probably damaging	Het
Siae	T	C	9: 37,539,096 (GRCm39)	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,113,148 (GRCm39)	V364I	probably benign	Het
Sltm	G	T	9: 70,496,260 (GRCm39)	V932F	probably damaging	Het
Smad1	A	G	8: 80,076,381 (GRCm39)	L279P	probably damaging	Het
Spag17	G	T	3: 99,958,147 (GRCm39)	G935V	probably damaging	Het
Srgap3	A	G	6: 112,723,895 (GRCm39)	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,684,844 (GRCm39)	I519V	probably benign	Het
Syt16	A	T	12: 74,176,160 (GRCm39)	I10F	probably damaging	Het
Trim43b	C	G	9: 88,973,365 (GRCm39)	G123R	probably damaging	Het
Ubr3	T	C	2: 69,843,475 (GRCm39)	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,227,639 (GRCm39)	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,380,985 (GRCm39)	W303R	probably benign	Het
Wdr93	T	C	7: 79,435,522 (GRCm39)	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,224,478 (GRCm39)	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776 (GRCm39)	C394Y	possibly 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
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
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
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'- GACCAAATAATCTTAGCCCTAAAGAT -3'
(R):5'- TGCGAGCTCACAGGCACA -3'

Sequencing Primer
(F):5'- TACATATGCATCCCTAGAGCTGGG -3'
(R):5'- TCACTGAACTTCAAGCTGGG -3'

Posted On

2016-03-17