Incidental Mutation 'R4931:Trf'
| ID |
380576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trf
|
| Ensembl Gene |
ENSMUSG00000032554 |
| Gene Name |
transferrin |
| Synonyms |
HP, Tfn |
| MMRRC Submission |
042532-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4931 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103086075-103107485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 103105247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 22
(D22Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035158]
[ENSMUST00000112645]
[ENSMUST00000126359]
[ENSMUST00000164377]
[ENSMUST00000165296]
[ENSMUST00000166836]
|
| AlphaFold |
Q921I1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035158
AA Change: D22Y
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: D22Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
TR_FER
|
25 |
352 |
5.04e-194 |
SMART |
|
TR_FER
|
360 |
686 |
8.64e-193 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112645
AA Change: D22Y
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: D22Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
TR_FER
|
25 |
352 |
5.04e-194 |
SMART |
|
TR_FER
|
360 |
686 |
8.64e-193 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126359
AA Change: D19Y
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120472
Gene: ENSMUSG00000032554
AA Change: D19Y
| Domain | Start | End | E-Value | Type |
|---|
|
TR_FER
|
22 |
237 |
2.25e-77 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164377
AA Change: D22Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128647
Gene: ENSMUSG00000032554
AA Change: D22Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Transferrin
|
25 |
72 |
6.6e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165296
AA Change: D22Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129013
Gene: ENSMUSG00000032554
AA Change: D22Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
TR_FER
|
25 |
171 |
5.58e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166836
AA Change: D22Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: D22Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
TR_FER
|
25 |
338 |
4.98e-175 |
SMART |
|
TR_FER
|
346 |
672 |
8.64e-193 |
SMART |
|
Pfam:Arf
|
758 |
928 |
1.5e-15 |
PFAM |
|
Pfam:SRPRB
|
769 |
948 |
1.4e-73 |
PFAM |
|
Pfam:MMR_HSR1
|
773 |
888 |
7.8e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.3426 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
95% (78/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit refractory iron-deficient, hypochromic, microcytic anemia with iron-loading in the liver, pancreas, heart and brain. Mutants usually die by two weeks of age. Heterozygotes show minor increases in iron stores. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
G |
3: 145,643,875 (GRCm39) |
D21G |
probably benign |
Het |
| 4930562C15Rik |
T |
C |
16: 4,678,910 (GRCm39) |
L68P |
possibly damaging |
Het |
| Ache |
A |
G |
5: 137,290,176 (GRCm39) |
I414V |
probably benign |
Het |
| Acy1 |
G |
A |
9: 106,310,390 (GRCm39) |
H308Y |
probably damaging |
Het |
| Aldh1b1 |
A |
C |
4: 45,803,661 (GRCm39) |
I400L |
probably benign |
Het |
| Ankrd40 |
T |
A |
11: 94,225,647 (GRCm39) |
L226Q |
probably benign |
Het |
| B3gnt9 |
T |
C |
8: 105,980,876 (GRCm39) |
T171A |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,977,134 (GRCm39) |
Y289C |
probably damaging |
Het |
| Cd209f |
A |
T |
8: 4,153,688 (GRCm39) |
I187N |
probably damaging |
Het |
| Cers6 |
T |
G |
2: 68,935,456 (GRCm39) |
S319A |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,670,665 (GRCm39) |
S364P |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,884,258 (GRCm39) |
S317P |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,908,774 (GRCm39) |
V1129A |
probably benign |
Het |
| Dhx9 |
G |
A |
1: 153,348,419 (GRCm39) |
P302L |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,583,793 (GRCm39) |
F496L |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,127,236 (GRCm39) |
N147S |
probably benign |
Het |
| Dytn |
T |
G |
1: 63,672,837 (GRCm39) |
E522A |
probably benign |
Het |
| E130114P18Rik |
T |
C |
4: 97,608,524 (GRCm39) |
D27G |
unknown |
Het |
| Egf |
A |
G |
3: 129,505,117 (GRCm39) |
F118S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,082,128 (GRCm39) |
F73L |
probably damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,474,240 (GRCm39) |
E237G |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,214,165 (GRCm39) |
E664G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,526,895 (GRCm39) |
S373T |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,784,699 (GRCm39) |
F894Y |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,372,050 (GRCm39) |
E496G |
unknown |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,588 (GRCm39) |
K465E |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,031,297 (GRCm39) |
T459A |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,803,797 (GRCm39) |
I64F |
probably damaging |
Het |
| Itgb2l |
T |
A |
16: 96,238,649 (GRCm39) |
N50I |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,962,531 (GRCm39) |
I478T |
probably damaging |
Het |
| Krt31 |
G |
A |
11: 99,940,983 (GRCm39) |
T109I |
probably benign |
Het |
| Ltbr |
G |
T |
6: 125,284,437 (GRCm39) |
|
probably null |
Het |
| Magel2 |
A |
G |
7: 62,030,372 (GRCm39) |
D1092G |
unknown |
Het |
| Minar1 |
T |
C |
9: 89,483,705 (GRCm39) |
H564R |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,401,024 (GRCm39) |
N231K |
probably damaging |
Het |
| Mpnd |
T |
G |
17: 56,319,362 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,014,226 (GRCm39) |
L340F |
probably benign |
Het |
| Nanog |
G |
A |
6: 122,684,865 (GRCm39) |
A17T |
possibly damaging |
Het |
| Ndufa9 |
G |
T |
6: 126,813,283 (GRCm39) |
A181E |
probably damaging |
Het |
| Or52z14 |
T |
G |
7: 103,253,581 (GRCm39) |
L240R |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,048,858 (GRCm39) |
I149F |
probably benign |
Het |
| Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
| Pramel18 |
T |
C |
4: 101,766,367 (GRCm39) |
V17A |
possibly damaging |
Het |
| Prkacb |
T |
C |
3: 146,453,732 (GRCm39) |
I211V |
possibly damaging |
Het |
| Ptpn14 |
C |
G |
1: 189,583,474 (GRCm39) |
L774V |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,492,848 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,573,028 (GRCm39) |
P391Q |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sf3b3 |
C |
T |
8: 111,542,961 (GRCm39) |
R832Q |
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,068,035 (GRCm39) |
D975G |
possibly damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,987,811 (GRCm39) |
L632P |
probably damaging |
Het |
| Spire2 |
A |
G |
8: 124,095,523 (GRCm39) |
D542G |
possibly damaging |
Het |
| Sppl3 |
A |
T |
5: 115,220,373 (GRCm39) |
Q95L |
probably damaging |
Het |
| Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
| Tcl1 |
G |
T |
12: 105,188,872 (GRCm39) |
H14N |
probably damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,555 (GRCm39) |
F70L |
probably benign |
Het |
| Tnfrsf13b |
A |
T |
11: 61,031,763 (GRCm39) |
T35S |
possibly damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,821,046 (GRCm39) |
P336L |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,136,943 (GRCm39) |
|
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,031 (GRCm39) |
I602F |
probably benign |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,541 (GRCm39) |
Y227C |
probably damaging |
Het |
| Zfp599 |
A |
T |
9: 22,169,419 (GRCm39) |
W18R |
probably damaging |
Het |
|
| Other mutations in Trf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Trf
|
APN |
9 |
103,098,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00424:Trf
|
APN |
9 |
103,104,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00793:Trf
|
APN |
9 |
103,103,342 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01139:Trf
|
APN |
9 |
103,100,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01658:Trf
|
APN |
9 |
103,104,055 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02671:Trf
|
APN |
9 |
103,089,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02996:Trf
|
APN |
9 |
103,098,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0060:Trf
|
UTSW |
9 |
103,098,121 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0060:Trf
|
UTSW |
9 |
103,098,121 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0096:Trf
|
UTSW |
9 |
103,099,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Trf
|
UTSW |
9 |
103,099,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Trf
|
UTSW |
9 |
103,104,155 (GRCm39) |
unclassified |
probably benign |
|
|
R0234:Trf
|
UTSW |
9 |
103,104,078 (GRCm39) |
splice site |
probably null |
|
|
R0234:Trf
|
UTSW |
9 |
103,104,078 (GRCm39) |
splice site |
probably null |
|
|
R0411:Trf
|
UTSW |
9 |
103,094,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Trf
|
UTSW |
9 |
103,104,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Trf
|
UTSW |
9 |
103,100,132 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1419:Trf
|
UTSW |
9 |
103,103,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Trf
|
UTSW |
9 |
103,102,335 (GRCm39) |
splice site |
probably null |
|
|
R3943:Trf
|
UTSW |
9 |
103,100,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4431:Trf
|
UTSW |
9 |
103,089,075 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4609:Trf
|
UTSW |
9 |
103,089,184 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4658:Trf
|
UTSW |
9 |
103,100,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Trf
|
UTSW |
9 |
103,105,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4925:Trf
|
UTSW |
9 |
103,096,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4929:Trf
|
UTSW |
9 |
103,105,074 (GRCm39) |
intron |
probably benign |
|
|
R5139:Trf
|
UTSW |
9 |
103,100,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5272:Trf
|
UTSW |
9 |
103,105,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5692:Trf
|
UTSW |
9 |
103,103,324 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6227:Trf
|
UTSW |
9 |
103,107,504 (GRCm39) |
start gained |
probably benign |
|
|
R6365:Trf
|
UTSW |
9 |
103,099,327 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6928:Trf
|
UTSW |
9 |
103,099,307 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7127:Trf
|
UTSW |
9 |
103,102,326 (GRCm39) |
missense |
probably benign |
|
|
R7231:Trf
|
UTSW |
9 |
103,102,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7648:Trf
|
UTSW |
9 |
103,105,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8088:Trf
|
UTSW |
9 |
103,089,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8095:Trf
|
UTSW |
9 |
103,087,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Trf
|
UTSW |
9 |
103,094,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Trf
|
UTSW |
9 |
103,094,675 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8735:Trf
|
UTSW |
9 |
103,087,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8854:Trf
|
UTSW |
9 |
103,107,529 (GRCm39) |
unclassified |
probably benign |
|
|
R9131:Trf
|
UTSW |
9 |
103,089,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9360:Trf
|
UTSW |
9 |
103,094,734 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9499:Trf
|
UTSW |
9 |
103,099,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9526:Trf
|
UTSW |
9 |
103,104,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9551:Trf
|
UTSW |
9 |
103,099,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9552:Trf
|
UTSW |
9 |
103,099,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9710:Trf
|
UTSW |
9 |
103,103,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACAAGTGAGTCAAACCAG -3'
(R):5'- TTCATCTGTTCCCAGGATCGG -3'
Sequencing Primer
(F):5'- TATAGGGGCTACCGTTCCC -3'
(R):5'- TTCCCAGGATCGGAGTGCAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation