Incidental Mutation 'R6629:Meltf'
ID |
525012 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meltf
|
Ensembl Gene |
ENSMUSG00000022780 |
Gene Name |
melanotransferrin |
Synonyms |
MTf, melanotransferrin, Mfi2, CD228 |
MMRRC Submission |
044751-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6629 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
31697628-31717838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31703894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 207
(Y207C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023464]
|
AlphaFold |
Q9R0R1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023464
AA Change: Y207C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023464 Gene: ENSMUSG00000022780 AA Change: Y207C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
TR_FER
|
23 |
364 |
2.62e-183 |
SMART |
TR_FER
|
366 |
719 |
4.23e-178 |
SMART |
low complexity region
|
721 |
734 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9609 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
97% (38/39) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, exhibit no physical defects, and develop normally with no detectable alterations in iron metabolism. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn3 |
A |
T |
12: 101,903,665 (GRCm39) |
M180K |
probably benign |
Het |
Bnip2 |
G |
T |
9: 69,909,393 (GRCm39) |
R236L |
probably null |
Het |
Boc |
T |
C |
16: 44,312,724 (GRCm39) |
D582G |
probably benign |
Het |
Cacul1 |
T |
C |
19: 60,568,805 (GRCm39) |
S118G |
probably benign |
Het |
Ccdc192 |
T |
C |
18: 57,863,852 (GRCm39) |
S219P |
possibly damaging |
Het |
Cpa2 |
A |
T |
6: 30,554,193 (GRCm39) |
D271V |
probably damaging |
Het |
Cubn |
G |
A |
2: 13,435,683 (GRCm39) |
T1091M |
probably damaging |
Het |
Dlgap2 |
A |
G |
8: 14,881,465 (GRCm39) |
T846A |
probably benign |
Het |
Eif5 |
G |
T |
12: 111,510,042 (GRCm39) |
A329S |
probably damaging |
Het |
Fam136b-ps |
G |
A |
15: 31,276,962 (GRCm39) |
|
probably benign |
Het |
Gnrhr |
A |
G |
5: 86,330,168 (GRCm39) |
V284A |
probably benign |
Het |
Grin3a |
A |
G |
4: 49,844,991 (GRCm39) |
S31P |
probably damaging |
Het |
Hectd2 |
T |
C |
19: 36,592,938 (GRCm39) |
L701P |
probably damaging |
Het |
Hook1 |
C |
T |
4: 95,889,507 (GRCm39) |
T241I |
probably benign |
Het |
Kif5a |
A |
G |
10: 127,084,123 (GRCm39) |
V52A |
probably damaging |
Het |
Lasp1 |
T |
A |
11: 97,697,722 (GRCm39) |
Y11* |
probably null |
Het |
Mllt3 |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,504 (GRCm39) |
|
probably benign |
Het |
Nek1 |
A |
G |
8: 61,507,367 (GRCm39) |
|
probably null |
Het |
Notch2 |
C |
A |
3: 98,028,197 (GRCm39) |
N969K |
possibly damaging |
Het |
Or4c116 |
T |
A |
2: 88,942,506 (GRCm39) |
M117L |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,617,851 (GRCm39) |
G135R |
probably benign |
Het |
Pla2g4f |
A |
T |
2: 120,138,723 (GRCm39) |
L242Q |
probably damaging |
Het |
Plcxd2 |
T |
G |
16: 45,785,470 (GRCm39) |
T312P |
probably damaging |
Het |
Prpf4 |
G |
A |
4: 62,336,097 (GRCm39) |
V275I |
possibly damaging |
Het |
Prpf8 |
G |
A |
11: 75,386,252 (GRCm39) |
|
probably null |
Het |
Pxn |
T |
C |
5: 115,692,121 (GRCm39) |
L401P |
probably damaging |
Het |
Rab44 |
A |
T |
17: 29,354,754 (GRCm39) |
|
probably benign |
Het |
Rfx6 |
C |
A |
10: 51,601,586 (GRCm39) |
T669K |
probably benign |
Het |
Rgs16 |
A |
G |
1: 153,619,420 (GRCm39) |
N142S |
probably damaging |
Het |
Rhobtb1 |
A |
G |
10: 69,106,146 (GRCm39) |
E237G |
possibly damaging |
Het |
Rsbn1 |
A |
C |
3: 103,835,757 (GRCm39) |
D265A |
probably damaging |
Het |
Rufy4 |
A |
G |
1: 74,171,526 (GRCm39) |
|
probably null |
Het |
Slc4a1 |
C |
A |
11: 102,252,048 (GRCm39) |
E19* |
probably null |
Het |
Tctn1 |
A |
G |
5: 122,380,731 (GRCm39) |
S526P |
probably damaging |
Het |
Tspear |
A |
T |
10: 77,706,343 (GRCm39) |
H371L |
probably benign |
Het |
Vmn1r34 |
A |
T |
6: 66,614,499 (GRCm39) |
F80I |
probably benign |
Het |
Wdr75 |
G |
A |
1: 45,851,216 (GRCm39) |
S264N |
probably damaging |
Het |
Zfp652 |
A |
T |
11: 95,654,616 (GRCm39) |
N340Y |
probably damaging |
Het |
Zp3 |
A |
G |
5: 136,016,190 (GRCm39) |
T306A |
probably benign |
Het |
|
Other mutations in Meltf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01811:Meltf
|
APN |
16 |
31,707,803 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02942:Meltf
|
APN |
16 |
31,709,596 (GRCm39) |
nonsense |
probably null |
|
IGL03340:Meltf
|
APN |
16 |
31,711,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R0734:Meltf
|
UTSW |
16 |
31,700,776 (GRCm39) |
missense |
probably damaging |
0.99 |
R1023:Meltf
|
UTSW |
16 |
31,703,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Meltf
|
UTSW |
16 |
31,702,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Meltf
|
UTSW |
16 |
31,702,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Meltf
|
UTSW |
16 |
31,715,395 (GRCm39) |
missense |
probably benign |
0.00 |
R1900:Meltf
|
UTSW |
16 |
31,700,787 (GRCm39) |
critical splice donor site |
probably null |
|
R1993:Meltf
|
UTSW |
16 |
31,711,440 (GRCm39) |
nonsense |
probably null |
|
R3423:Meltf
|
UTSW |
16 |
31,715,343 (GRCm39) |
nonsense |
probably null |
|
R3425:Meltf
|
UTSW |
16 |
31,715,343 (GRCm39) |
nonsense |
probably null |
|
R3804:Meltf
|
UTSW |
16 |
31,703,816 (GRCm39) |
missense |
probably benign |
0.23 |
R4724:Meltf
|
UTSW |
16 |
31,711,323 (GRCm39) |
missense |
probably benign |
0.03 |
R4976:Meltf
|
UTSW |
16 |
31,713,532 (GRCm39) |
missense |
probably benign |
0.01 |
R5007:Meltf
|
UTSW |
16 |
31,706,380 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5058:Meltf
|
UTSW |
16 |
31,706,421 (GRCm39) |
splice site |
probably null |
|
R5534:Meltf
|
UTSW |
16 |
31,709,632 (GRCm39) |
critical splice donor site |
probably null |
|
R5661:Meltf
|
UTSW |
16 |
31,700,744 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6028:Meltf
|
UTSW |
16 |
31,706,294 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6424:Meltf
|
UTSW |
16 |
31,699,080 (GRCm39) |
nonsense |
probably null |
|
R6464:Meltf
|
UTSW |
16 |
31,709,594 (GRCm39) |
missense |
probably benign |
0.19 |
R6479:Meltf
|
UTSW |
16 |
31,700,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R6525:Meltf
|
UTSW |
16 |
31,707,717 (GRCm39) |
nonsense |
probably null |
|
R6964:Meltf
|
UTSW |
16 |
31,698,980 (GRCm39) |
missense |
probably benign |
0.41 |
R7133:Meltf
|
UTSW |
16 |
31,711,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Meltf
|
UTSW |
16 |
31,698,980 (GRCm39) |
missense |
probably benign |
0.41 |
R7198:Meltf
|
UTSW |
16 |
31,702,617 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7212:Meltf
|
UTSW |
16 |
31,709,632 (GRCm39) |
critical splice donor site |
probably null |
|
R7246:Meltf
|
UTSW |
16 |
31,713,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R7407:Meltf
|
UTSW |
16 |
31,713,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R7424:Meltf
|
UTSW |
16 |
31,703,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R7475:Meltf
|
UTSW |
16 |
31,700,756 (GRCm39) |
missense |
probably benign |
0.12 |
R7727:Meltf
|
UTSW |
16 |
31,702,612 (GRCm39) |
missense |
probably damaging |
0.99 |
R7764:Meltf
|
UTSW |
16 |
31,699,085 (GRCm39) |
missense |
probably benign |
0.01 |
R8220:Meltf
|
UTSW |
16 |
31,706,233 (GRCm39) |
missense |
probably benign |
0.01 |
R8840:Meltf
|
UTSW |
16 |
31,716,020 (GRCm39) |
missense |
probably damaging |
0.98 |
R8896:Meltf
|
UTSW |
16 |
31,709,522 (GRCm39) |
splice site |
probably benign |
|
R9214:Meltf
|
UTSW |
16 |
31,697,763 (GRCm39) |
missense |
probably benign |
|
R9563:Meltf
|
UTSW |
16 |
31,703,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R9638:Meltf
|
UTSW |
16 |
31,706,409 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0062:Meltf
|
UTSW |
16 |
31,699,018 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Meltf
|
UTSW |
16 |
31,699,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGACTCTGAAAGGTGGAG -3'
(R):5'- AAACTCAGCCTGGCACCTTC -3'
Sequencing Primer
(F):5'- CTCTCTTGACTCTGCAGGGTG -3'
(R):5'- CCGGTTTCGTGTTTATAAACTAGC -3'
|
Posted On |
2018-06-22 |