Incidental Mutation 'IGL02715:Tfrc'
| ID |
304713 |
| 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 # |
IGL02715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32427738-32451612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32443189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 494
(T494A)
|
| 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: T494A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: T494A
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,089,714 (GRCm39) |
I57V |
probably damaging |
Het |
| Abce1 |
T |
A |
8: 80,416,990 (GRCm39) |
E340D |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Aig1 |
A |
G |
10: 13,744,360 (GRCm39) |
|
probably null |
Het |
| Atpsckmt |
A |
G |
15: 31,606,149 (GRCm39) |
T36A |
probably benign |
Het |
| Brd3 |
C |
A |
2: 27,344,495 (GRCm39) |
A412S |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,511,158 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,504,893 (GRCm39) |
E147G |
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,671,374 (GRCm39) |
|
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,323 (GRCm39) |
L151P |
probably damaging |
Het |
| Col11a1 |
G |
T |
3: 113,923,058 (GRCm39) |
M7I |
probably benign |
Het |
| Cstdc4 |
T |
C |
16: 36,008,315 (GRCm39) |
I67T |
possibly damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,542,469 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
G |
13: 98,932,843 (GRCm39) |
M53T |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,962,222 (GRCm39) |
Y236H |
possibly damaging |
Het |
| G6bos |
A |
G |
17: 35,284,537 (GRCm39) |
|
probably null |
Het |
| Gramd1a |
C |
T |
7: 30,835,279 (GRCm39) |
G436D |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,131 (GRCm39) |
Y1243C |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,505 (GRCm39) |
D523G |
probably benign |
Het |
| Lrrc2 |
A |
C |
9: 110,799,182 (GRCm39) |
D177A |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,848,905 (GRCm39) |
|
probably null |
Het |
| Mrgpra6 |
A |
T |
7: 46,838,396 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,184,365 (GRCm39) |
|
probably benign |
Het |
| Myzap |
C |
A |
9: 71,422,397 (GRCm39) |
E392* |
probably null |
Het |
| Ndst3 |
G |
A |
3: 123,340,410 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,201,296 (GRCm39) |
P130H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,971,137 (GRCm39) |
T2526A |
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,479,947 (GRCm39) |
I206F |
probably benign |
Het |
| Pcnt |
C |
A |
10: 76,204,556 (GRCm39) |
|
probably benign |
Het |
| Pfpl |
T |
A |
19: 12,407,145 (GRCm39) |
C465* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,353,458 (GRCm39) |
C680S |
probably damaging |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,604 (GRCm39) |
G793V |
unknown |
Het |
| Prss27 |
A |
T |
17: 24,263,953 (GRCm39) |
D213V |
possibly damaging |
Het |
| Sh2d5 |
T |
C |
4: 137,984,018 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,851,549 (GRCm39) |
D193G |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,868,588 (GRCm39) |
V66A |
probably benign |
Het |
| Synpr |
T |
C |
14: 13,608,618 (GRCm38) |
S133P |
probably damaging |
Het |
| Tagln3 |
T |
C |
16: 45,544,588 (GRCm39) |
N28D |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,333,512 (GRCm39) |
I77T |
possibly damaging |
Het |
| Tmem42 |
C |
A |
9: 122,851,295 (GRCm39) |
T86N |
probably damaging |
Het |
| Ttc8 |
T |
A |
12: 98,910,179 (GRCm39) |
|
probably benign |
Het |
| Tub |
G |
A |
7: 108,628,517 (GRCm39) |
V342I |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,014,218 (GRCm39) |
I337F |
probably damaging |
Het |
| Xkr7 |
A |
G |
2: 152,896,277 (GRCm39) |
E377G |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,819,542 (GRCm39) |
G260D |
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 |
|
IGL02401:Tfrc
|
APN |
16 |
32,435,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02548:Tfrc
|
APN |
16 |
32,443,640 (GRCm39) |
nonsense |
probably null |
|
|
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 |
Incidental Mutation