Incidental Mutation 'IGL01553:Tfrc'
| ID |
90634 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tfrc
|
| Ensembl Gene |
ENSMUSG00000022797 |
| Gene Name |
transferrin receptor |
| Synonyms |
Mtvr1, E430033M20Rik, Trfr, p90, 2610028K12Rik, CD71, Mtvr-1, TfR1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32427738-32451612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32447403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 673
(V673A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023486]
[ENSMUST00000120680]
|
| AlphaFold |
Q62351 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023486
AA Change: V673A
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: V673A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
Pfam:PA
|
229 |
348 |
1.1e-12 |
PFAM |
|
Pfam:Peptidase_M28
|
390 |
597 |
1e-13 |
PFAM |
|
Pfam:TFR_dimer
|
640 |
753 |
3.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120680
|
| SMART Domains |
Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
Pfam:PA
|
225 |
349 |
9.2e-11 |
PFAM |
|
Pfam:Peptidase_M28
|
403 |
502 |
3.5e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231912
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Mice that are deficient in this receptor show impaired erythroid development and abnormal iron homeostasis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c13 |
T |
A |
13: 4,244,774 (GRCm39) |
H117Q |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,943,944 (GRCm39) |
N188S |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,519,393 (GRCm39) |
I561N |
probably damaging |
Het |
| Bsph2 |
G |
T |
7: 13,290,645 (GRCm39) |
T78K |
probably damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,048,063 (GRCm39) |
Y776H |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,753,072 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
C |
T |
13: 49,618,252 (GRCm39) |
V218M |
probably damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,899,082 (GRCm39) |
S94G |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,833,803 (GRCm39) |
Y1839* |
probably null |
Het |
| Gabra6 |
T |
A |
11: 42,206,023 (GRCm39) |
T278S |
probably damaging |
Het |
| Galnt11 |
G |
A |
5: 25,452,718 (GRCm39) |
D77N |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,808,279 (GRCm39) |
D171G |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,408,199 (GRCm39) |
N655S |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,234,024 (GRCm39) |
I786N |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,386,956 (GRCm39) |
Q976* |
probably null |
Het |
| Mbtd1 |
T |
A |
11: 93,814,040 (GRCm39) |
C228S |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,776,415 (GRCm39) |
L46P |
probably damaging |
Het |
| Niban3 |
G |
T |
8: 72,055,546 (GRCm39) |
A319S |
possibly damaging |
Het |
| Nup133 |
A |
G |
8: 124,642,063 (GRCm39) |
V800A |
possibly damaging |
Het |
| Or5h23 |
G |
T |
16: 58,906,685 (GRCm39) |
H54N |
probably benign |
Het |
| Prkca |
C |
T |
11: 107,948,660 (GRCm39) |
G110R |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,375,566 (GRCm39) |
M565K |
probably damaging |
Het |
| Scgn |
T |
C |
13: 24,143,662 (GRCm39) |
Q77R |
probably benign |
Het |
| Serpinb6b |
T |
C |
13: 33,158,931 (GRCm39) |
L44P |
probably damaging |
Het |
| Tsfm |
G |
A |
10: 126,864,259 (GRCm39) |
T152M |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,047,897 (GRCm39) |
C1803S |
probably benign |
Het |
|
| Other mutations in Tfrc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Tfrc
|
APN |
16 |
32,443,646 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01667:Tfrc
|
APN |
16 |
32,443,261 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01761:Tfrc
|
APN |
16 |
32,447,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Tfrc
|
APN |
16 |
32,440,004 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02093:Tfrc
|
APN |
16 |
32,449,012 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02401:Tfrc
|
APN |
16 |
32,435,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02548:Tfrc
|
APN |
16 |
32,443,640 (GRCm39) |
nonsense |
probably null |
|
|
IGL02715:Tfrc
|
APN |
16 |
32,443,189 (GRCm39) |
missense |
probably benign |
|
|
IGL03157:Tfrc
|
APN |
16 |
32,439,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03242:Tfrc
|
APN |
16 |
32,448,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Tfrc
|
APN |
16 |
32,443,649 (GRCm39) |
splice site |
probably null |
|
|
R0034:Tfrc
|
UTSW |
16 |
32,434,214 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0098:Tfrc
|
UTSW |
16 |
32,442,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0098:Tfrc
|
UTSW |
16 |
32,442,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0508:Tfrc
|
UTSW |
16 |
32,448,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Tfrc
|
UTSW |
16 |
32,445,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1613:Tfrc
|
UTSW |
16 |
32,442,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Tfrc
|
UTSW |
16 |
32,433,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2430:Tfrc
|
UTSW |
16 |
32,445,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3807:Tfrc
|
UTSW |
16 |
32,435,644 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4613:Tfrc
|
UTSW |
16 |
32,437,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Tfrc
|
UTSW |
16 |
32,448,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4974:Tfrc
|
UTSW |
16 |
32,437,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5138:Tfrc
|
UTSW |
16 |
32,434,027 (GRCm39) |
nonsense |
probably null |
|
|
R5668:Tfrc
|
UTSW |
16 |
32,442,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5867:Tfrc
|
UTSW |
16 |
32,439,230 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5942:Tfrc
|
UTSW |
16 |
32,445,533 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6185:Tfrc
|
UTSW |
16 |
32,437,090 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6417:Tfrc
|
UTSW |
16 |
32,449,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7453:Tfrc
|
UTSW |
16 |
32,437,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Tfrc
|
UTSW |
16 |
32,440,235 (GRCm39) |
splice site |
probably null |
|
|
R7791:Tfrc
|
UTSW |
16 |
32,437,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7792:Tfrc
|
UTSW |
16 |
32,437,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7793:Tfrc
|
UTSW |
16 |
32,437,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7830:Tfrc
|
UTSW |
16 |
32,437,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7832:Tfrc
|
UTSW |
16 |
32,437,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7943:Tfrc
|
UTSW |
16 |
32,449,039 (GRCm39) |
missense |
probably benign |
|
|
R7974:Tfrc
|
UTSW |
16 |
32,440,101 (GRCm39) |
missense |
probably null |
0.89 |
|
R7980:Tfrc
|
UTSW |
16 |
32,435,967 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8055:Tfrc
|
UTSW |
16 |
32,437,474 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8215:Tfrc
|
UTSW |
16 |
32,443,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9095:Tfrc
|
UTSW |
16 |
32,433,571 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9379:Tfrc
|
UTSW |
16 |
32,443,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9677:Tfrc
|
UTSW |
16 |
32,434,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation