Mutagenetix > Incidental Mutation

Incidental Mutation 'R7165:Frrs1'

557854

Institutional Source

Beutler Lab

Gene Symbol

Frrs1

Ensembl Gene

ENSMUSG00000033386

Gene Name

ferric-chelate reductase 1

Synonyms

Sdfr2

MMRRC Submission

045262-MU

Accession Numbers

Essential gene?

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

Stock #

R7165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116653212-116701363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116671920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 6 (I6N)

Ref Sequence

ENSEMBL: ENSMUSP00000039487 (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: I6N

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: I6N

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: I6N

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: I6N

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: I6N

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143546
Gene: ENSMUSG00000033386
AA Change: I6N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (79/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	C	A	2: 127,965,028 (GRCm39)	A624E	probably benign	Het
Adnp	A	G	2: 168,024,287 (GRCm39)	S1003P	probably benign	Het
Akap8l	T	C	17: 32,557,386 (GRCm39)	D75G	probably damaging	Het
Ap4e1	A	T	2: 126,905,238 (GRCm39)	T970S	possibly damaging	Het
Asb3	T	A	11: 30,979,029 (GRCm39)	N106K	probably damaging	Het
Atp1a3	T	C	7: 24,678,390 (GRCm39)	I988V	probably benign	Het
Camta1	A	G	4: 151,169,157 (GRCm39)	L198S	possibly damaging	Het
Ccdc77	A	G	6: 120,327,193 (GRCm39)	L84P	probably damaging	Het
Ccne1	C	T	7: 37,798,726 (GRCm39)	A298T	probably damaging	Het
Cdc42bpb	T	A	12: 111,287,951 (GRCm39)	E532V	probably damaging	Het
Clasp2	G	A	9: 113,615,467 (GRCm39)		probably null	Het
Cntnap5b	C	A	1: 100,003,887 (GRCm39)	T289N	possibly damaging	Het
Dcun1d4	A	G	5: 73,648,538 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,100 (GRCm39)	T2296A	probably benign	Het
Dnaja4	A	T	9: 54,616,516 (GRCm39)	Q173L	probably damaging	Het
Dync2h1	G	A	9: 7,050,479 (GRCm39)	A3190V	probably benign	Het
Fscn1	T	C	5: 142,957,801 (GRCm39)	V477A	probably benign	Het
Fsip2	G	A	2: 82,811,541 (GRCm39)	G2620E	possibly damaging	Het
Glp1r	C	T	17: 31,128,297 (GRCm39)	A92V	probably benign	Het
Gpr137b	A	T	13: 13,542,205 (GRCm39)	M204K	probably damaging	Het
Gstm1	A	G	3: 107,923,693 (GRCm39)	V104A	probably benign	Het
Gtf2e1	A	T	16: 37,356,228 (GRCm39)	N101K	probably damaging	Het
Igsf9b	T	C	9: 27,245,536 (GRCm39)	F1168L	probably benign	Het
Itpr2	A	T	6: 146,195,589 (GRCm39)	V1629E	probably damaging	Het
Kat14	A	G	2: 144,235,918 (GRCm39)	T428A	probably benign	Het
Kif21b	T	C	1: 136,077,186 (GRCm39)	Y403H	probably damaging	Het
Lpcat1	G	C	13: 73,662,649 (GRCm39)	A533P	probably benign	Het
Lrp2	A	T	2: 69,336,917 (GRCm39)	I1285N	probably damaging	Het
Mboat1	A	T	13: 30,408,398 (GRCm39)	Y187F	probably damaging	Het
Mkx	T	C	18: 7,002,525 (GRCm39)	N7S	probably damaging	Het
Mrps27	A	T	13: 99,551,307 (GRCm39)	T357S	possibly damaging	Het
Muc21	A	G	17: 35,932,870 (GRCm39)	S439P	unknown	Het
Naa35	A	G	13: 59,733,997 (GRCm39)	D9G	probably benign	Het
Ncoa4	T	A	14: 31,897,940 (GRCm39)	N253K	probably damaging	Het
Neb	A	G	2: 52,160,318 (GRCm39)	Y2232H	probably damaging	Het
Nlk	G	A	11: 78,481,793 (GRCm39)	Q223*	probably null	Het
Npas2	T	A	1: 39,331,798 (GRCm39)	I71N	possibly damaging	Het
Nup107	T	A	10: 117,609,267 (GRCm39)	Q364L	probably damaging	Het
Or8g17	T	A	9: 38,934,566 (GRCm39)		probably benign	Het
Otof	C	T	5: 30,532,964 (GRCm39)	G1593S	probably damaging	Het
Panx3	G	T	9: 37,575,381 (GRCm39)	H160Q	probably damaging	Het
Pappa	T	A	4: 65,180,110 (GRCm39)	H990Q	probably damaging	Het
Pax4	G	A	6: 28,446,136 (GRCm39)	P119L	probably damaging	Het
Pcdhb20	T	A	18: 37,638,123 (GRCm39)	D216E	probably damaging	Het
Pcdhgb8	T	A	18: 37,896,231 (GRCm39)	S434T	possibly damaging	Het
Pf4	T	C	5: 90,920,448 (GRCm39)	V3A	probably benign	Het
Phf24	T	C	4: 42,938,325 (GRCm39)	S229P	probably benign	Het
Plcd3	A	G	11: 102,970,439 (GRCm39)	F200S	probably damaging	Het
Ppp1r16a	A	G	15: 76,575,104 (GRCm39)	H4R	probably damaging	Het
Pramel15	A	G	4: 144,099,389 (GRCm39)	C459R	probably damaging	Het
Prdm10	A	G	9: 31,227,738 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,667,474 (GRCm39)		probably null	Het
Prkg1	T	A	19: 30,562,599 (GRCm39)	H550L	probably damaging	Het
Prrc2c	G	T	1: 162,501,086 (GRCm39)	T2809N	possibly damaging	Het
Ptx3	A	G	3: 66,132,391 (GRCm39)	E304G	probably benign	Het
Ralgps2	A	G	1: 156,655,818 (GRCm39)	F369L	probably benign	Het
Rasgrp1	G	A	2: 117,168,885 (GRCm39)	T31I	probably benign	Het
Rbsn	A	T	6: 92,168,315 (GRCm39)	M373K	probably benign	Het
Rnf168	C	G	16: 32,101,179 (GRCm39)	R120G	probably benign	Het
Rp1	A	G	1: 4,420,140 (GRCm39)	I324T	probably damaging	Het
Samd11	T	C	4: 156,336,747 (GRCm39)	S31G	probably benign	Het
Sart3	A	T	5: 113,884,056 (GRCm39)	L652Q	probably benign	Het
Scrn2	A	G	11: 96,924,634 (GRCm39)	E421G	probably benign	Het
Sik2	A	T	9: 50,828,397 (GRCm39)	L215Q	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,534,639 (GRCm39)	K3632M	probably damaging	Het
Swt1	A	T	1: 151,264,428 (GRCm39)	D695E	probably damaging	Het
Tead3	T	A	17: 28,552,228 (GRCm39)	M357L	probably benign	Het
Tgfbi	A	T	13: 56,775,829 (GRCm39)	T292S	probably damaging	Het
Tmc7	T	C	7: 118,155,157 (GRCm39)	H247R	probably benign	Het
Trmt10b	T	A	4: 45,308,549 (GRCm39)	D236E	probably damaging	Het
Tshz1	C	A	18: 84,034,052 (GRCm39)	V119L	probably damaging	Het
Ttn	A	C	2: 76,658,258 (GRCm39)	V12374G	unknown	Het
Tubgcp2	A	G	7: 139,585,274 (GRCm39)	Y484H	probably damaging	Het
Ubr4	G	C	4: 139,177,824 (GRCm39)	A1947P		Het
Uggt1	A	C	1: 36,194,188 (GRCm39)	V1350G	probably benign	Het
Vmn1r173	A	T	7: 23,402,076 (GRCm39)	M104L	probably benign	Het
Xirp1	A	T	9: 119,848,113 (GRCm39)	C257S	probably damaging	Het
Zfyve26	A	G	12: 79,327,179 (GRCm39)	S724P	probably damaging	Het
Zmpste24	A	T	4: 120,940,091 (GRCm39)	L185Q	probably null	Het
Zpld1	G	A	16: 55,052,594 (GRCm39)	A340V	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
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
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
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'- CTTGCTGAAGTCTCACAGTTGG -3'
(R):5'- AGCACTCATACCTTTGATCTGG -3'

Sequencing Primer
(F):5'- GGTAAACCAGCTTTAGATCAGGTACC -3'
(R):5'- GTCTCCAGGTTTGAACGTCGTC -3'

Posted On

2019-06-26