Incidental Mutation 'R7830:Tfrc'
| ID |
602399 |
| 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 |
045884-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7830 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32427738-32451612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32437985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 346
(K346R)
|
| 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: K346R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: K346R
| 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: K346R
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: K346R
| 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 |
|
| Meta Mutation Damage Score |
0.0907 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
C |
10: 80,442,654 (GRCm39) |
L164P |
probably damaging |
Het |
| Aldh16a1 |
A |
T |
7: 44,795,649 (GRCm39) |
L388Q |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,539,664 (GRCm39) |
N65S |
probably damaging |
Het |
| Ankrd54 |
G |
A |
15: 78,938,250 (GRCm39) |
T287I |
probably damaging |
Het |
| Bltp1 |
CCAGATTCATGTAGCA |
CCA |
3: 37,019,081 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
T |
A |
19: 40,753,801 (GRCm39) |
V108E |
possibly damaging |
Het |
| Cd200l1 |
A |
T |
16: 45,262,917 (GRCm39) |
I187N |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,469,245 (GRCm39) |
D609V |
probably damaging |
Het |
| Col6a4 |
G |
T |
9: 105,952,589 (GRCm39) |
D436E |
probably damaging |
Het |
| Cul9 |
A |
T |
17: 46,851,237 (GRCm39) |
D394E |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,523,210 (GRCm39) |
E75G |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Eif2ak2 |
C |
T |
17: 79,173,832 (GRCm39) |
G249S |
probably damaging |
Het |
| Erich4 |
A |
T |
7: 25,315,149 (GRCm39) |
M42K |
probably benign |
Het |
| Fig4 |
A |
C |
10: 41,132,462 (GRCm39) |
V448G |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,848 (GRCm39) |
D303G |
probably damaging |
Het |
| Golgb1 |
T |
G |
16: 36,719,083 (GRCm39) |
Y330D |
possibly damaging |
Het |
| Gpr146 |
C |
T |
5: 139,378,357 (GRCm39) |
A53V |
probably benign |
Het |
| Klk1b27 |
A |
C |
7: 43,705,150 (GRCm39) |
M106L |
probably benign |
Het |
| Lipc |
T |
C |
9: 70,720,183 (GRCm39) |
T190A |
probably damaging |
Het |
| Lrrc4b |
A |
G |
7: 44,111,231 (GRCm39) |
I368V |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,507,284 (GRCm39) |
Q368L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,738,057 (GRCm39) |
Y501* |
probably null |
Het |
| Neb |
T |
A |
2: 52,055,201 (GRCm39) |
H6445L |
probably benign |
Het |
| Numa1 |
T |
A |
7: 101,648,492 (GRCm39) |
M741K |
probably benign |
Het |
| Nxn |
T |
A |
11: 76,164,819 (GRCm39) |
I231F |
probably damaging |
Het |
| Or1j13 |
A |
G |
2: 36,369,392 (GRCm39) |
L250P |
probably damaging |
Het |
| Or5b116 |
T |
C |
19: 13,422,985 (GRCm39) |
L203S |
probably benign |
Het |
| Osbp2 |
A |
G |
11: 3,813,414 (GRCm39) |
S152P |
probably benign |
Het |
| P3h4 |
T |
C |
11: 100,304,869 (GRCm39) |
T173A |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,221,733 (GRCm39) |
R678S |
probably damaging |
Het |
| Pcdhb6 |
C |
A |
18: 37,469,365 (GRCm39) |
T762K |
probably benign |
Het |
| Pnrc1 |
G |
A |
4: 33,248,057 (GRCm39) |
P114L |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,574,481 (GRCm39) |
S126R |
probably damaging |
Het |
| Prl3d2 |
C |
T |
13: 27,310,000 (GRCm39) |
T155I |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,100,038 (GRCm39) |
N1847K |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,381,223 (GRCm39) |
V440E |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,404 (GRCm39) |
S913P |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,301,928 (GRCm39) |
N24S |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,031,030 (GRCm39) |
H525L |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,364,447 (GRCm39) |
Y94C |
probably damaging |
Het |
| Serpinb6a |
T |
G |
13: 34,114,030 (GRCm39) |
D120A |
probably benign |
Het |
| Sik3 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
9: 46,123,355 (GRCm39) |
|
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,547,566 (GRCm39) |
D299G |
probably benign |
Het |
| Sox1 |
G |
A |
8: 12,446,955 (GRCm39) |
A199T |
probably damaging |
Het |
| Strc |
T |
A |
2: 121,205,530 (GRCm39) |
I867F |
probably damaging |
Het |
| Usf3 |
C |
T |
16: 44,040,142 (GRCm39) |
Q1541* |
probably null |
Het |
| Wrn |
G |
A |
8: 33,759,082 (GRCm39) |
L716F |
probably damaging |
Het |
| Zfp141 |
G |
A |
7: 42,124,612 (GRCm39) |
T620I |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,814,136 (GRCm39) |
I263K |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,821,124 (GRCm39) |
E646D |
probably benign |
Het |
| Zfp970 |
G |
T |
2: 177,167,338 (GRCm39) |
C304F |
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 |
|
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 |
|
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'- GCAACTTCCTGAGTAAGTGTTAGAAC -3'
(R):5'- CACCACAGTAGGAATGCACTG -3'
Sequencing Primer
(F):5'- ATACACACCTGGCTTTCC -3'
(R):5'- TAGCCAACTGCCACTTT -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation