Incidental Mutation 'R5867:Tfrc'
ID |
454248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tfrc
|
Ensembl Gene |
ENSMUSG00000022797 |
Gene Name |
transferrin receptor |
Synonyms |
Mtvr1, E430033M20Rik, Trfr, p90, 2610028K12Rik, CD71, Mtvr-1, TfR1 |
MMRRC Submission |
043233-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5867 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
32427738-32451612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32439230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 365
(C365S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023486]
[ENSMUST00000120680]
|
AlphaFold |
Q62351 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023486
AA Change: C365S
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000023486 Gene: ENSMUSG00000022797 AA Change: C365S
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
AA Change: C365S
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113028 Gene: ENSMUSG00000022797 AA Change: C365S
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: ENSMUST00000137901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155929
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231912
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,987,416 (GRCm39) |
V2900A |
probably damaging |
Het |
Akip1 |
A |
G |
7: 109,306,684 (GRCm39) |
H127R |
probably benign |
Het |
Alad |
A |
T |
4: 62,431,203 (GRCm39) |
Y56N |
probably damaging |
Het |
Aldoart1 |
T |
A |
4: 72,770,770 (GRCm39) |
M13L |
probably benign |
Het |
Ap1g1 |
C |
T |
8: 110,545,614 (GRCm39) |
A89V |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
Cd209b |
T |
C |
8: 3,974,246 (GRCm39) |
I89V |
possibly damaging |
Het |
Cd36 |
T |
C |
5: 17,990,733 (GRCm39) |
K469R |
probably benign |
Het |
Cdh20 |
T |
A |
1: 109,976,581 (GRCm39) |
I82N |
probably damaging |
Het |
Clmn |
G |
T |
12: 104,748,014 (GRCm39) |
P511H |
probably damaging |
Het |
Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
Cyp2a5 |
T |
C |
7: 26,542,383 (GRCm39) |
F462L |
probably benign |
Het |
Dclk2 |
A |
G |
3: 86,699,166 (GRCm39) |
*709Q |
probably null |
Het |
Drd1 |
T |
C |
13: 54,208,182 (GRCm39) |
T4A |
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,402,733 (GRCm39) |
V513I |
possibly damaging |
Het |
Fam43a |
T |
A |
16: 30,420,277 (GRCm39) |
V287E |
probably benign |
Het |
Gm5134 |
A |
G |
10: 75,844,450 (GRCm39) |
E602G |
probably benign |
Het |
Gtsf2 |
C |
T |
15: 103,348,063 (GRCm39) |
G149E |
probably benign |
Het |
Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,801,570 (GRCm39) |
T62A |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,348,954 (GRCm39) |
I662N |
possibly damaging |
Het |
Lmod3 |
A |
G |
6: 97,224,963 (GRCm39) |
V286A |
probably damaging |
Het |
Mefv |
T |
C |
16: 3,533,797 (GRCm39) |
D158G |
probably damaging |
Het |
Mff |
T |
C |
1: 82,728,327 (GRCm39) |
|
probably null |
Het |
Mfsd6l |
G |
T |
11: 68,448,036 (GRCm39) |
V296L |
possibly damaging |
Het |
Neu2 |
G |
T |
1: 87,524,478 (GRCm39) |
Q154H |
probably damaging |
Het |
Or5m3b |
A |
G |
2: 85,871,795 (GRCm39) |
I45M |
probably benign |
Het |
Pdk4 |
T |
A |
6: 5,487,452 (GRCm39) |
H266L |
probably benign |
Het |
Pdrg1 |
T |
C |
2: 152,855,975 (GRCm39) |
N40D |
probably damaging |
Het |
Pi4k2a |
T |
C |
19: 42,093,924 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
T |
A |
8: 117,781,750 (GRCm39) |
D765V |
probably damaging |
Het |
Pspc1 |
A |
T |
14: 56,999,498 (GRCm39) |
|
probably null |
Het |
Ptprm |
T |
C |
17: 67,352,976 (GRCm39) |
|
probably null |
Het |
Spata31d1d |
T |
C |
13: 59,875,054 (GRCm39) |
K827R |
possibly damaging |
Het |
Srebf2 |
T |
A |
15: 82,053,987 (GRCm39) |
F46Y |
probably damaging |
Het |
Ttc7 |
A |
G |
17: 87,629,900 (GRCm39) |
H294R |
possibly damaging |
Het |
Ubr7 |
T |
A |
12: 102,727,753 (GRCm39) |
Y92N |
probably damaging |
Het |
Vmn1r42 |
A |
C |
6: 89,821,761 (GRCm39) |
Y269* |
probably null |
Het |
Vmn2r1 |
A |
G |
3: 64,011,990 (GRCm39) |
E617G |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,889,904 (GRCm39) |
|
probably null |
Het |
Vps50 |
T |
C |
6: 3,536,965 (GRCm39) |
L312P |
probably damaging |
Het |
Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
Zcchc3 |
A |
G |
2: 152,256,444 (GRCm39) |
F85S |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,520,078 (GRCm39) |
L400P |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGTGAAGCACTGAATGACTCTTACC -3'
(R):5'- GCCAAGCTAGCATCCTTCTC -3'
Sequencing Primer
(F):5'- CTGAGAAATATCAGGCAGTAGTAGG -3'
(R):5'- CCTTCCTGCACTAGACCTATCTACAG -3'
|
Posted On |
2017-02-10 |