Incidental Mutation 'IGL02401:Tfrc'
ID |
291888 |
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 # |
IGL02401
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
32427738-32451612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 32435999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 225
(S225R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023486]
[ENSMUST00000120680]
[ENSMUST00000124243]
|
AlphaFold |
Q62351 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023486
AA Change: S225R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023486 Gene: ENSMUSG00000022797 AA Change: S225R
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 damaging
Transcript: ENSMUST00000120680
AA Change: S225R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113028 Gene: ENSMUSG00000022797 AA Change: S225R
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 |
probably benign
Transcript: ENSMUST00000124243
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155929
|
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 |
Arhgef18 |
C |
T |
8: 3,487,078 (GRCm39) |
R266C |
probably damaging |
Het |
Asb11 |
A |
T |
X: 163,241,753 (GRCm39) |
|
probably benign |
Het |
Cnot1 |
G |
A |
8: 96,482,761 (GRCm39) |
T764M |
possibly damaging |
Het |
Galns |
A |
G |
8: 123,331,938 (GRCm39) |
M59T |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
Gm9312 |
A |
C |
12: 24,302,106 (GRCm39) |
|
noncoding transcript |
Het |
Lama3 |
T |
C |
18: 12,690,784 (GRCm39) |
F1268S |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,643,585 (GRCm39) |
C1347R |
probably damaging |
Het |
Lrrfip1 |
T |
C |
1: 91,042,650 (GRCm39) |
S352P |
probably benign |
Het |
Mcfd2 |
T |
C |
17: 87,564,592 (GRCm39) |
T97A |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,929,983 (GRCm39) |
N23S |
possibly damaging |
Het |
Nr1i3 |
A |
T |
1: 171,043,942 (GRCm39) |
|
probably benign |
Het |
Or4c10b |
T |
C |
2: 89,711,797 (GRCm39) |
F209S |
probably damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,651 (GRCm39) |
P26L |
probably damaging |
Het |
Orm2 |
A |
C |
4: 63,281,568 (GRCm39) |
I100L |
probably benign |
Het |
Pbsn |
A |
G |
X: 76,886,129 (GRCm39) |
M126T |
probably benign |
Het |
Rpgr |
G |
T |
X: 10,024,956 (GRCm39) |
T1026K |
possibly damaging |
Het |
Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
Shq1 |
T |
C |
6: 100,625,208 (GRCm39) |
Y217C |
probably damaging |
Het |
Slc17a8 |
A |
T |
10: 89,412,522 (GRCm39) |
|
probably null |
Het |
Slc6a19 |
A |
G |
13: 73,848,709 (GRCm39) |
I15T |
probably damaging |
Het |
Smarcd3 |
A |
T |
5: 24,798,717 (GRCm39) |
V335E |
probably damaging |
Het |
Sugp2 |
A |
G |
8: 70,695,821 (GRCm39) |
T265A |
possibly damaging |
Het |
Vsig10l |
T |
A |
7: 43,113,468 (GRCm39) |
L140Q |
probably damaging |
Het |
Zbtb46 |
T |
A |
2: 181,065,245 (GRCm39) |
T302S |
probably benign |
Het |
Znhit1 |
T |
C |
5: 137,011,513 (GRCm39) |
Y105C |
probably damaging |
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 |
|
IGL01553:Tfrc
|
APN |
16 |
32,447,403 (GRCm39) |
missense |
probably benign |
0.07 |
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 |
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 |
2015-04-16 |