Incidental Mutation 'IGL02572:Flvcr1'
ID299066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flvcr1
Ensembl Gene ENSMUSG00000066595
Gene Namefeline leukemia virus subgroup C cellular receptor 1
SynonymsMfsd7b, 9630055N22Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02572
Quality Score
Status
Chromosome1
Chromosomal Location191005847-191026158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 191025646 bp
ZygosityHeterozygous
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]
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: 85,725,171 N92S probably damaging Het
Abca2 T C 2: 25,433,317 L99P possibly damaging Het
Adam19 T A 11: 46,131,721 Y500* probably null Het
Amy1 A T 3: 113,565,073 probably benign Het
Aox3 T C 1: 58,158,367 I624T probably damaging Het
Atad3a C T 4: 155,753,584 D244N possibly damaging Het
Atp5j2 C A 5: 145,187,237 Het
Bbof1 G A 12: 84,428,365 D443N probably damaging Het
BC017158 A T 7: 128,290,580 probably benign Het
Bod1l G A 5: 41,821,230 Q914* probably null Het
C330011M18Rik A G 8: 84,066,579 probably benign Het
Cgref1 A G 5: 30,933,567 V301A probably benign Het
Coa6 T C 8: 126,422,741 Y19H probably damaging Het
Cop1 T A 1: 159,308,878 Het
Dmrta1 T C 4: 89,691,558 S252P probably benign Het
Dnaaf5 T G 5: 139,184,629 S484A probably benign Het
Dspp A T 5: 104,177,069 S433C probably damaging Het
Efcab5 G A 11: 77,137,888 R206* probably null Het
Epop A T 11: 97,628,201 S361T probably benign Het
Fat3 T A 9: 15,960,506 T3530S probably benign Het
Fsip2 T G 2: 82,992,003 S6027A probably benign Het
Galnt14 A G 17: 73,535,267 L209P probably damaging Het
Hif3a C A 7: 17,050,588 R25L probably null Het
Hsf5 A G 11: 87,631,695 probably benign Het
Il22ra2 A T 10: 19,626,744 T104S probably benign Het
Klrk1 A G 6: 129,615,353 S138P probably damaging Het
Lrp5 G T 19: 3,614,283 Q815K probably benign Het
Morn4 A G 19: 42,076,447 probably benign Het
Nlrp14 T A 7: 107,182,722 Y375* probably null Het
Nsd1 T A 13: 55,296,130 M1714K probably damaging Het
Olfr171 T A 16: 19,625,098 M1L probably benign Het
Olfr259 G A 2: 87,108,366 T7I possibly damaging Het
Olfr806 T A 10: 129,738,866 D17V possibly damaging Het
Pappa2 C T 1: 158,851,216 A877T probably benign Het
Pcsk2 G A 2: 143,690,342 A137T probably damaging Het
Piezo1 A G 8: 122,485,305 V2054A probably benign Het
Rad52 A G 6: 119,915,227 Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sbno1 A G 5: 124,381,677 Het
Scrn1 C T 6: 54,512,201 D312N probably benign Het
Sin3b A G 8: 72,744,481 Q352R probably benign Het
Slc25a28 A G 19: 43,664,446 Y259H probably damaging Het
Sppl2a T C 2: 126,926,296 M151V probably benign Het
Srrm1 G A 4: 135,325,104 Het
Stra8 G A 6: 34,939,159 D280N probably damaging Het
Thbs2 A T 17: 14,677,013 D744E possibly damaging Het
Tiparp A G 3: 65,531,889 T27A probably benign Het
Tmem38a T C 8: 72,579,974 F99S probably damaging Het
Tmod3 T C 9: 75,509,385 T222A probably benign Het
Tnn A G 1: 160,086,107 I1272T probably damaging Het
Tnpo1 A T 13: 98,849,159 I829N probably damaging Het
Trpm5 A T 7: 143,087,876 probably benign Het
Ttn A G 2: 76,767,871 V19566A probably damaging Het
V1ra8 A G 6: 90,203,058 D81G probably damaging Het
Zdhhc20 A G 14: 57,890,107 V25A probably benign Het
Other mutations in Flvcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Flvcr1 APN 1 191015489 nonsense probably null
IGL01089:Flvcr1 APN 1 191013390 missense probably damaging 0.98
IGL03248:Flvcr1 APN 1 191025742 missense probably damaging 1.00
R0009:Flvcr1 UTSW 1 191008191 missense probably benign
R0122:Flvcr1 UTSW 1 191021226 missense possibly damaging 0.79
R0363:Flvcr1 UTSW 1 191012254 splice site probably benign
R0417:Flvcr1 UTSW 1 191011219 missense probably benign 0.05
R0718:Flvcr1 UTSW 1 191025582 missense probably damaging 1.00
R1061:Flvcr1 UTSW 1 191008173 missense probably benign 0.01
R1815:Flvcr1 UTSW 1 191025380 missense probably damaging 1.00
R2029:Flvcr1 UTSW 1 191021156 missense probably benign 0.01
R4590:Flvcr1 UTSW 1 191012146 missense probably benign 0.05
R4766:Flvcr1 UTSW 1 191021106 missense probably benign 0.00
R4889:Flvcr1 UTSW 1 191025567 missense probably damaging 1.00
R4976:Flvcr1 UTSW 1 191025495 missense probably damaging 1.00
R5434:Flvcr1 UTSW 1 191026009 missense probably benign 0.07
R5508:Flvcr1 UTSW 1 191025459 missense probably damaging 1.00
R5930:Flvcr1 UTSW 1 191009551 missense probably damaging 1.00
R6698:Flvcr1 UTSW 1 191025732 missense probably damaging 1.00
R6927:Flvcr1 UTSW 1 191025664 missense possibly damaging 0.66
X0064:Flvcr1 UTSW 1 191025447 missense probably benign 0.08
Posted On2015-04-16