Incidental Mutation 'IGL02572:Flvcr1'
ID 299066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flvcr1
Ensembl Gene ENSMUSG00000066595
Gene Name feline leukemia virus subgroup C cellular receptor 1
Synonyms 9630055N22Rik, Mfsd7b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02572
Quality Score
Status
Chromosome 1
Chromosomal Location 190738044-190758355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 190757843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 108 (Y108H)
Ref Sequence ENSEMBL: ENSMUSP00000141985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085635] [ENSMUST00000191946] [ENSMUST00000192666]
AlphaFold B2RXV4
Predicted Effect probably damaging
Transcript: ENSMUST00000085635
AA Change: Y150H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: Y150H

DomainStartEndE-ValueType
low complexity region 40 68 N/A INTRINSIC
Pfam:MFS_1 100 483 1.5e-28 PFAM
transmembrane domain 498 517 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181050
SMART Domains Protein: ENSMUSP00000138069
Gene: ENSMUSG00000097845

DomainStartEndE-ValueType
low complexity region 97 106 N/A INTRINSIC
low complexity region 170 188 N/A INTRINSIC
low complexity region 246 265 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191946
AA Change: Y150H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141578
Gene: ENSMUSG00000066595
AA Change: Y150H

DomainStartEndE-ValueType
low complexity region 40 68 N/A INTRINSIC
Pfam:MFS_1 96 243 2.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192407
Predicted Effect probably damaging
Transcript: ENSMUST00000192666
AA Change: Y108H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141985
Gene: ENSMUSG00000066595
AA Change: Y108H

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
Pfam:MFS_1 54 198 3.1e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit runting, cardiomegaly and splenomegaly, lack definitive erythropoiesis, develop severe hyperchromic macrocytic anemia and reticulocytopenia, and show craniofacial and limb defects and intrauterine lethality modulated by genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,652,892 (GRCm39) N92S probably damaging Het
Abca2 T C 2: 25,323,329 (GRCm39) L99P possibly damaging Het
Adam19 T A 11: 46,022,548 (GRCm39) Y500* probably null Het
Amy1 A T 3: 113,358,722 (GRCm39) probably benign Het
Aox3 T C 1: 58,197,526 (GRCm39) I624T probably damaging Het
Atad3a C T 4: 155,838,041 (GRCm39) D244N possibly damaging Het
Atp5mf C A 5: 145,124,047 (GRCm39) probably benign Het
Bbof1 G A 12: 84,475,139 (GRCm39) D443N probably damaging Het
Bod1l G A 5: 41,978,573 (GRCm39) Q914* probably null Het
C330011M18Rik A G 8: 84,793,208 (GRCm39) probably benign Het
Cgref1 A G 5: 31,090,911 (GRCm39) V301A probably benign Het
Coa6 T C 8: 127,149,480 (GRCm39) Y19H probably damaging Het
Cop1 T A 1: 159,136,448 (GRCm39) probably benign Het
Dmrta1 T C 4: 89,579,795 (GRCm39) S252P probably benign Het
Dnaaf5 T G 5: 139,170,384 (GRCm39) S484A probably benign Het
Dspp A T 5: 104,324,935 (GRCm39) S433C probably damaging Het
Efcab5 G A 11: 77,028,714 (GRCm39) R206* probably null Het
Epop A T 11: 97,519,027 (GRCm39) S361T probably benign Het
Fat3 T A 9: 15,871,802 (GRCm39) T3530S probably benign Het
Fsip2 T G 2: 82,822,347 (GRCm39) S6027A probably benign Het
Galnt14 A G 17: 73,842,262 (GRCm39) L209P probably damaging Het
Hif3a C A 7: 16,784,513 (GRCm39) R25L probably null Het
Hsf5 A G 11: 87,522,521 (GRCm39) probably benign Het
Il22ra2 A T 10: 19,502,492 (GRCm39) T104S probably benign Het
Klrk1 A G 6: 129,592,316 (GRCm39) S138P probably damaging Het
Lrp5 G T 19: 3,664,283 (GRCm39) Q815K probably benign Het
Morn4 A G 19: 42,064,886 (GRCm39) probably benign Het
Nlrp14 T A 7: 106,781,929 (GRCm39) Y375* probably null Het
Nsd1 T A 13: 55,443,943 (GRCm39) M1714K probably damaging Het
Or2aj6 T A 16: 19,443,848 (GRCm39) M1L probably benign Het
Or5aq7 G A 2: 86,938,710 (GRCm39) T7I possibly damaging Het
Or6c213 T A 10: 129,574,735 (GRCm39) D17V possibly damaging Het
Pappa2 C T 1: 158,678,786 (GRCm39) A877T probably benign Het
Pcsk2 G A 2: 143,532,262 (GRCm39) A137T probably damaging Het
Piezo1 A G 8: 123,212,044 (GRCm39) V2054A probably benign Het
Rad52 A G 6: 119,892,188 (GRCm39) probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rusf1 A T 7: 127,889,752 (GRCm39) probably benign Het
Sbno1 A G 5: 124,519,740 (GRCm39) probably benign Het
Scrn1 C T 6: 54,489,186 (GRCm39) D312N probably benign Het
Sin3b A G 8: 73,471,109 (GRCm39) Q352R probably benign Het
Slc25a28 A G 19: 43,652,885 (GRCm39) Y259H probably damaging Het
Sppl2a T C 2: 126,768,216 (GRCm39) M151V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stra8 G A 6: 34,916,094 (GRCm39) D280N probably damaging Het
Thbs2 A T 17: 14,897,275 (GRCm39) D744E possibly damaging Het
Tiparp A G 3: 65,439,310 (GRCm39) T27A probably benign Het
Tmem38a T C 8: 73,333,818 (GRCm39) F99S probably damaging Het
Tmod3 T C 9: 75,416,667 (GRCm39) T222A probably benign Het
Tnn A G 1: 159,913,677 (GRCm39) I1272T probably damaging Het
Tnpo1 A T 13: 98,985,667 (GRCm39) I829N probably damaging Het
Trpm5 A T 7: 142,641,613 (GRCm39) probably benign Het
Ttn A G 2: 76,598,215 (GRCm39) V19566A probably damaging Het
V1ra8 A G 6: 90,180,040 (GRCm39) D81G probably damaging Het
Zdhhc20 A G 14: 58,127,564 (GRCm39) V25A probably benign Het
Other mutations in Flvcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Flvcr1 APN 1 190,747,686 (GRCm39) nonsense probably null
IGL01089:Flvcr1 APN 1 190,745,587 (GRCm39) missense probably damaging 0.98
IGL03248:Flvcr1 APN 1 190,757,939 (GRCm39) missense probably damaging 1.00
R0009:Flvcr1 UTSW 1 190,740,388 (GRCm39) missense probably benign
R0122:Flvcr1 UTSW 1 190,753,423 (GRCm39) missense possibly damaging 0.79
R0363:Flvcr1 UTSW 1 190,744,451 (GRCm39) splice site probably benign
R0417:Flvcr1 UTSW 1 190,743,416 (GRCm39) missense probably benign 0.05
R0718:Flvcr1 UTSW 1 190,757,779 (GRCm39) missense probably damaging 1.00
R1061:Flvcr1 UTSW 1 190,740,370 (GRCm39) missense probably benign 0.01
R1815:Flvcr1 UTSW 1 190,757,577 (GRCm39) missense probably damaging 1.00
R2029:Flvcr1 UTSW 1 190,753,353 (GRCm39) missense probably benign 0.01
R4590:Flvcr1 UTSW 1 190,744,343 (GRCm39) missense probably benign 0.05
R4766:Flvcr1 UTSW 1 190,753,303 (GRCm39) missense probably benign 0.00
R4889:Flvcr1 UTSW 1 190,757,764 (GRCm39) missense probably damaging 1.00
R4956:Flvcr1 UTSW 1 190,758,383 (GRCm39) unclassified probably benign
R4976:Flvcr1 UTSW 1 190,757,692 (GRCm39) missense probably damaging 1.00
R5434:Flvcr1 UTSW 1 190,758,206 (GRCm39) missense probably benign 0.07
R5508:Flvcr1 UTSW 1 190,757,656 (GRCm39) missense probably damaging 1.00
R5930:Flvcr1 UTSW 1 190,741,748 (GRCm39) missense probably damaging 1.00
R6698:Flvcr1 UTSW 1 190,757,929 (GRCm39) missense probably damaging 1.00
R6927:Flvcr1 UTSW 1 190,757,861 (GRCm39) missense possibly damaging 0.66
R7544:Flvcr1 UTSW 1 190,758,143 (GRCm39) missense probably damaging 0.99
R7654:Flvcr1 UTSW 1 190,743,802 (GRCm39) missense possibly damaging 0.83
R7853:Flvcr1 UTSW 1 190,757,843 (GRCm39) missense probably damaging 1.00
R8185:Flvcr1 UTSW 1 190,747,681 (GRCm39) missense probably damaging 1.00
R8387:Flvcr1 UTSW 1 190,743,731 (GRCm39) critical splice donor site probably null
R8995:Flvcr1 UTSW 1 190,743,817 (GRCm39) missense probably damaging 1.00
R9092:Flvcr1 UTSW 1 190,740,364 (GRCm39) missense
R9202:Flvcr1 UTSW 1 190,744,351 (GRCm39) missense probably benign 0.04
R9448:Flvcr1 UTSW 1 190,744,406 (GRCm39) missense possibly damaging 0.65
R9487:Flvcr1 UTSW 1 190,743,829 (GRCm39) missense possibly damaging 0.79
X0064:Flvcr1 UTSW 1 190,757,644 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16