Incidental Mutation 'R0098:Tfrc'
| ID |
16330 |
| 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 |
038384-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0098 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32427738-32451612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32442244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 490
(V490F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023486]
[ENSMUST00000120680]
|
| AlphaFold |
Q62351 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023486
AA Change: V490F
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: V490F
| 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 damaging
Transcript: ENSMUST00000120680
AA Change: V490F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: V490F
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 90.4%
- 3x: 88.1%
- 10x: 82.9%
- 20x: 75.6%
|
| Validation Efficiency |
93% (78/84) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
A |
T |
17: 36,207,309 (GRCm39) |
|
probably benign |
Het |
| Acad9 |
T |
C |
3: 36,127,689 (GRCm39) |
I97T |
probably damaging |
Het |
| Adam32 |
T |
A |
8: 25,404,405 (GRCm39) |
Y200F |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,007,284 (GRCm39) |
N976S |
possibly damaging |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,982 (GRCm39) |
L342S |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,598,056 (GRCm39) |
H72Q |
possibly damaging |
Het |
| Ankrd10 |
T |
C |
8: 11,662,560 (GRCm39) |
H391R |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,465,390 (GRCm39) |
V2151A |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,429,869 (GRCm39) |
D389G |
probably benign |
Het |
| Atp10b |
A |
T |
11: 43,080,431 (GRCm39) |
S236C |
probably benign |
Het |
| B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
| Bcl9l |
C |
T |
9: 44,416,914 (GRCm39) |
P251S |
probably benign |
Het |
| Cdhr5 |
C |
A |
7: 140,849,781 (GRCm39) |
G331W |
probably damaging |
Het |
| Cmklr1 |
T |
C |
5: 113,752,531 (GRCm39) |
T157A |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,646,949 (GRCm39) |
E246D |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,595,385 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,909,792 (GRCm39) |
L1078P |
probably damaging |
Het |
| Cyp20a1 |
G |
T |
1: 60,426,413 (GRCm39) |
E452* |
probably null |
Het |
| Emb |
T |
C |
13: 117,404,034 (GRCm39) |
V262A |
probably damaging |
Het |
| Ephb1 |
C |
T |
9: 101,918,339 (GRCm39) |
R390H |
probably damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,696 (GRCm39) |
L556S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,189,431 (GRCm39) |
T1196A |
probably damaging |
Het |
| Fbf1 |
A |
T |
11: 116,038,945 (GRCm39) |
|
probably null |
Het |
| Gid8 |
T |
A |
2: 180,356,528 (GRCm39) |
I55N |
possibly damaging |
Het |
| Hexa |
T |
C |
9: 59,465,383 (GRCm39) |
Y213H |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,863,989 (GRCm39) |
K234E |
probably damaging |
Het |
| Ighv1-58 |
C |
T |
12: 115,275,919 (GRCm39) |
G73E |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,795,989 (GRCm39) |
I1262K |
possibly damaging |
Het |
| Lrp1 |
C |
T |
10: 127,388,607 (GRCm39) |
V3281I |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,305,756 (GRCm39) |
D2935G |
probably damaging |
Het |
| Lypd6 |
T |
A |
2: 50,080,792 (GRCm39) |
V160E |
probably benign |
Het |
| Muc19 |
C |
T |
15: 91,777,101 (GRCm39) |
|
noncoding transcript |
Het |
| Nrxn3 |
A |
G |
12: 89,226,971 (GRCm39) |
D202G |
probably damaging |
Het |
| Nxn |
A |
T |
11: 76,169,420 (GRCm39) |
|
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,026 (GRCm39) |
I216K |
probably benign |
Het |
| Palld |
C |
A |
8: 61,978,120 (GRCm39) |
G890V |
probably damaging |
Het |
| Pcx |
C |
A |
19: 4,651,775 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,639,441 (GRCm39) |
S416P |
unknown |
Het |
| Ppa2 |
C |
T |
3: 133,076,234 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,888 (GRCm39) |
I254M |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
| Rd3 |
A |
G |
1: 191,717,261 (GRCm39) |
M244V |
probably benign |
Het |
| Rfx5 |
T |
A |
3: 94,865,679 (GRCm39) |
V326E |
probably damaging |
Het |
| Rgs3 |
G |
C |
4: 62,544,143 (GRCm39) |
R305P |
probably damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,970 (GRCm39) |
Y173H |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,731,376 (GRCm39) |
N645D |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,302,446 (GRCm39) |
V657A |
possibly damaging |
Het |
| Serpina3n |
T |
A |
12: 104,379,777 (GRCm39) |
V390E |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,962,709 (GRCm39) |
Y141C |
unknown |
Het |
| Smg1 |
A |
T |
7: 117,744,690 (GRCm39) |
M3154K |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,175,418 (GRCm39) |
L996P |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,343,784 (GRCm39) |
S53G |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,619,188 (GRCm39) |
Y1262H |
possibly damaging |
Het |
| Ttc3 |
A |
T |
16: 94,191,124 (GRCm39) |
H222L |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,393 (GRCm39) |
|
probably benign |
Het |
| Unk |
A |
G |
11: 115,940,995 (GRCm39) |
Y252C |
probably damaging |
Het |
| Vwc2l |
A |
G |
1: 70,768,290 (GRCm39) |
Y71C |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,834 (GRCm39) |
L184* |
probably null |
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 |
|
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 |
2013-01-20 |
Incidental Mutation