Incidental Mutation 'R8055:Tfrc'
| ID |
619342 |
| 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 |
067492-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32427738-32451612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32437474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 277
(N277K)
|
| 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: N277K
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: N277K
| 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 |
possibly damaging
Transcript: ENSMUST00000120680
AA Change: N277K
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: N277K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
C |
A |
3: 92,336,139 (GRCm39) |
G188W |
unknown |
Het |
| Ahcyl1 |
A |
T |
3: 107,576,047 (GRCm39) |
D353E |
probably benign |
Het |
| Alk |
G |
T |
17: 72,206,252 (GRCm39) |
P1033T |
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,556,565 (GRCm39) |
C20F |
probably benign |
Het |
| BC049715 |
A |
G |
6: 136,816,913 (GRCm39) |
N51S |
possibly damaging |
Het |
| Ccser1 |
G |
A |
6: 61,290,757 (GRCm39) |
V480M |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,244,905 (GRCm39) |
N1184D |
probably benign |
Het |
| Cers6 |
C |
T |
2: 68,777,625 (GRCm39) |
R111W |
probably damaging |
Het |
| Clybl |
T |
A |
14: 122,615,273 (GRCm39) |
D204E |
probably damaging |
Het |
| Cxcl13 |
T |
C |
5: 96,107,763 (GRCm39) |
V73A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,037,032 (GRCm39) |
N593S |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,069,168 (GRCm39) |
N47K |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,636,015 (GRCm39) |
T46A |
probably benign |
Het |
| Gm15217 |
T |
C |
14: 46,616,911 (GRCm39) |
|
probably benign |
Het |
| Gnb5 |
G |
T |
9: 75,250,826 (GRCm39) |
A317S |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,722 (GRCm39) |
V304A |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,633,424 (GRCm39) |
C209* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,732,378 (GRCm39) |
N2646K |
unknown |
Het |
| Krt14 |
C |
G |
11: 100,095,584 (GRCm39) |
V274L |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,612,186 (GRCm39) |
D1277V |
unknown |
Het |
| Myo9a |
A |
T |
9: 59,814,743 (GRCm39) |
E2226D |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,120,255 (GRCm39) |
V631A |
possibly damaging |
Het |
| Piezo2 |
G |
A |
18: 63,175,882 (GRCm39) |
S1833L |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,359 (GRCm39) |
V203A |
probably benign |
Het |
| Primpol |
T |
C |
8: 47,032,197 (GRCm39) |
D459G |
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,634,749 (GRCm39) |
R3631S |
probably benign |
Het |
| Rbbp8nl |
T |
C |
2: 179,920,001 (GRCm39) |
T558A |
probably benign |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,997,724 (GRCm39) |
R566Q |
probably damaging |
Het |
| Rhbdf2 |
A |
C |
11: 116,498,191 (GRCm39) |
S3A |
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,595,284 (GRCm39) |
I1319N |
probably benign |
Het |
| Sbno2 |
T |
A |
10: 79,905,265 (GRCm39) |
I206F |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,149,845 (GRCm39) |
V944A |
probably damaging |
Het |
| Scube1 |
C |
T |
15: 83,543,226 (GRCm39) |
|
probably null |
Het |
| Slc22a20 |
G |
A |
19: 6,021,439 (GRCm39) |
A521V |
probably benign |
Het |
| Slc6a4 |
C |
A |
11: 76,901,424 (GRCm39) |
T53K |
probably benign |
Het |
| Snapc2 |
G |
A |
8: 4,304,322 (GRCm39) |
R75Q |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,884,351 (GRCm39) |
K662I |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,298,438 (GRCm39) |
S55P |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,173,753 (GRCm39) |
V1503D |
possibly damaging |
Het |
| Tlx3 |
A |
T |
11: 33,151,283 (GRCm39) |
V291E |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,747,327 (GRCm39) |
H101Q |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,495,343 (GRCm39) |
D70E |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,803,924 (GRCm39) |
G1938C |
probably damaging |
Het |
| Tubg1 |
T |
C |
11: 101,014,828 (GRCm39) |
L190P |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,541 (GRCm39) |
S641C |
possibly damaging |
Het |
| Wnt8b |
A |
G |
19: 44,481,952 (GRCm39) |
|
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 |
|
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 |
|
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'- CAGACGTACCTGAATGCTTTC -3'
(R):5'- AAGCATTCTCAGCAACTGCC -3'
Sequencing Primer
(F):5'- AGACGTACCTGAATGCTTTCCCTTAC -3'
(R):5'- AACTGCCTTCTTACTTCCTGCTAAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation