Incidental Mutation 'IGL01395:Frrs1'
ID 79405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frrs1
Ensembl Gene ENSMUSG00000033386
Gene Name ferric-chelate reductase 1
Synonyms Sdfr2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01395
Quality Score
Status
Chromosome 3
Chromosomal Location 116653212-116701363 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116694654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 492 (I492V)
Ref Sequence ENSEMBL: ENSMUSP00000143255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040260] [ENSMUST00000195905] [ENSMUST00000199030]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040260
AA Change: I492V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: I492V

DomainStartEndE-ValueType
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: I492V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: I492V

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000199030
SMART Domains Protein: ENSMUSP00000142793
Gene: ENSMUSG00000033386

DomainStartEndE-ValueType
B561 1 99 1.5e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199584
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Frrs1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-11-05