Incidental Mutation 'R5692:Trf'
| ID |
443738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trf
|
| Ensembl Gene |
ENSMUSG00000032554 |
| Gene Name |
transferrin |
| Synonyms |
HP, Tfn |
| MMRRC Submission |
043179-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5692 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103086075-103107485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103103324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 110
(Y110C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035158]
[ENSMUST00000112645]
[ENSMUST00000126359]
[ENSMUST00000164377]
[ENSMUST00000165296]
[ENSMUST00000166836]
[ENSMUST00000170904]
|
| AlphaFold |
Q921I1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035158
AA Change: Y113C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: Y113C
| 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 |
noncoding transcript
Transcript: ENSMUST00000112503
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112645
AA Change: Y113C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: Y113C
| 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: Y110C
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120472
Gene: ENSMUSG00000032554
AA Change: Y110C
| Domain | Start | End | E-Value | Type |
|---|
|
TR_FER
|
22 |
237 |
2.25e-77 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164377
|
| SMART Domains |
Protein: ENSMUSP00000128647
Gene: ENSMUSG00000032554
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Transferrin
|
25 |
72 |
6.6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165296
AA Change: Y113C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129013
Gene: ENSMUSG00000032554
AA Change: Y113C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
TR_FER
|
25 |
171 |
5.58e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166836
AA Change: Y113C
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: Y113C
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170904
|
| SMART Domains |
Protein: ENSMUSP00000128390
Gene: ENSMUSG00000032554
| Domain | Start | End | E-Value | Type |
|---|
|
TR_FER
|
15 |
275 |
7.6e-139 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
G |
A |
9: 8,221,991 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy10 |
A |
G |
1: 165,342,875 (GRCm39) |
N247S |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,248,862 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
A |
G |
7: 44,797,223 (GRCm39) |
V168A |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap26 |
T |
A |
18: 39,254,945 (GRCm39) |
V274E |
probably damaging |
Het |
| Clec4d |
T |
C |
6: 123,245,104 (GRCm39) |
|
probably null |
Het |
| Dennd4b |
T |
C |
3: 90,185,090 (GRCm39) |
Y1166H |
probably damaging |
Het |
| Egln3 |
T |
C |
12: 54,227,447 (GRCm39) |
|
probably null |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,690,768 (GRCm39) |
M434L |
probably benign |
Het |
| Gfm1 |
T |
G |
3: 67,342,955 (GRCm39) |
M163R |
probably damaging |
Het |
| Isg15 |
A |
T |
4: 156,284,279 (GRCm39) |
L83Q |
probably damaging |
Het |
| Ly9 |
GCCTTTGGGGGACAATTCC |
GCC |
1: 171,432,755 (GRCm39) |
|
probably null |
Het |
| Med1 |
G |
T |
11: 98,047,206 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
T |
A |
11: 105,227,468 (GRCm39) |
V567D |
probably damaging |
Het |
| Nnmt |
G |
T |
9: 48,514,780 (GRCm39) |
T79K |
probably benign |
Het |
| Opn1sw |
G |
A |
6: 29,379,840 (GRCm39) |
|
probably benign |
Het |
| Optc |
G |
T |
1: 133,828,714 (GRCm39) |
|
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,685,980 (GRCm39) |
P816S |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,502 (GRCm39) |
S245P |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,445,288 (GRCm39) |
F2445L |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,778,652 (GRCm39) |
N721S |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
| Sulf2 |
C |
A |
2: 165,923,426 (GRCm39) |
A598S |
probably benign |
Het |
| Tph2 |
A |
T |
10: 115,020,732 (GRCm39) |
D21E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,628,202 (GRCm39) |
E14653K |
possibly damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,485,724 (GRCm39) |
I590T |
possibly damaging |
Het |
| Zfp607b |
G |
T |
7: 27,402,889 (GRCm39) |
K448N |
probably benign |
Het |
| Zfp689 |
T |
C |
7: 127,048,071 (GRCm39) |
|
probably benign |
Het |
| Zfp709 |
C |
T |
8: 72,643,999 (GRCm39) |
P476L |
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 |
|
|
R4931:Trf
|
UTSW |
9 |
103,105,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- GCCCCAGCAGTACAGGATATTC -3'
(R):5'- TTTGTTTTCCCGGATGGACC -3'
Sequencing Primer
(F):5'- TAGAAATGGCGGCTTACCTTTC -3'
(R):5'- CCGGATGGACCATCTGTCTTTAAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation