Incidental Mutation 'IGL03410:Tfrc'
| ID |
421780 |
| 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 # |
IGL03410
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32427738-32451612 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 32443649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023486]
[ENSMUST00000120680]
|
| AlphaFold |
Q62351 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023486
|
| SMART Domains |
Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
| 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: 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,220,728 (GRCm39) |
V409E |
probably damaging |
Het |
| 1700086D15Rik |
A |
G |
11: 65,043,393 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,914,945 (GRCm39) |
N715S |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,476,238 (GRCm39) |
A1527D |
probably damaging |
Het |
| Cmtm2a |
G |
T |
8: 105,010,501 (GRCm39) |
P133T |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,340,900 (GRCm39) |
V483A |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,715,456 (GRCm39) |
D14V |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,083,535 (GRCm39) |
I125V |
probably benign |
Het |
| Dok3 |
G |
T |
13: 55,672,044 (GRCm39) |
Y211* |
probably null |
Het |
| Fat4 |
T |
C |
3: 38,945,325 (GRCm39) |
V1406A |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,183,315 (GRCm39) |
F1790S |
possibly damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,948 (GRCm39) |
M70K |
probably damaging |
Het |
| Gulp1 |
A |
T |
1: 44,747,777 (GRCm39) |
D10V |
probably damaging |
Het |
| Hagh |
T |
C |
17: 25,079,916 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 34,956,789 (GRCm39) |
E206G |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,355 (GRCm39) |
E682G |
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,362,435 (GRCm39) |
L70P |
probably damaging |
Het |
| Igkv4-59 |
G |
T |
6: 69,415,450 (GRCm39) |
A35E |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,862,421 (GRCm39) |
V80A |
probably damaging |
Het |
| Lars2 |
G |
A |
9: 123,247,841 (GRCm39) |
A333T |
possibly damaging |
Het |
| Lrrc4 |
G |
A |
6: 28,830,515 (GRCm39) |
R367W |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,080,009 (GRCm39) |
M44K |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,986 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,952,819 (GRCm39) |
I367V |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,738,830 (GRCm39) |
L1677P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,209,717 (GRCm39) |
T246A |
probably benign |
Het |
| Nkiras1 |
A |
G |
14: 18,280,073 (GRCm38) |
R155G |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,379 (GRCm39) |
N726S |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,219,156 (GRCm39) |
T393A |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,051 (GRCm39) |
I238F |
probably damaging |
Het |
| Or4b1b |
A |
G |
2: 90,112,557 (GRCm39) |
Y121H |
probably damaging |
Het |
| Or4b1d |
G |
A |
2: 89,969,489 (GRCm39) |
|
probably benign |
Het |
| Or5m11b |
T |
A |
2: 85,805,764 (GRCm39) |
M59K |
probably damaging |
Het |
| Pcnx2 |
T |
A |
8: 126,613,779 (GRCm39) |
E557D |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,472,425 (GRCm39) |
I1563V |
probably benign |
Het |
| Pramel21 |
C |
A |
4: 143,341,851 (GRCm39) |
H93Q |
probably benign |
Het |
| Prdx3 |
T |
G |
19: 60,859,848 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,669,501 (GRCm39) |
R295K |
probably null |
Het |
| Rhbdl2 |
T |
A |
4: 123,723,463 (GRCm39) |
L289* |
probably null |
Het |
| Rnps1 |
A |
G |
17: 24,640,835 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,395,823 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,603,033 (GRCm39) |
Y4518N |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,772,436 (GRCm39) |
N296S |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,047,964 (GRCm39) |
T1308M |
probably damaging |
Het |
| Slc39a9 |
A |
G |
12: 80,691,662 (GRCm39) |
D3G |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,662,740 (GRCm39) |
E165G |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,686,776 (GRCm39) |
I48F |
probably benign |
Het |
| Stxbp3 |
C |
T |
3: 108,709,476 (GRCm39) |
C354Y |
probably damaging |
Het |
| Terb1 |
C |
A |
8: 105,199,674 (GRCm39) |
|
probably benign |
Het |
| Toporsl |
A |
C |
4: 52,611,134 (GRCm39) |
R342S |
probably benign |
Het |
| Ube2d3 |
T |
A |
3: 135,170,978 (GRCm39) |
W141R |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,910,486 (GRCm39) |
V3417L |
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 |
|
|
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation