Incidental Mutation 'R8840:Meltf'
ID |
674385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meltf
|
Ensembl Gene |
ENSMUSG00000022780 |
Gene Name |
melanotransferrin |
Synonyms |
MTf, melanotransferrin, Mfi2, CD228 |
MMRRC Submission |
068668-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8840 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
31697628-31717838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31716020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 733
(L733P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023464]
|
AlphaFold |
Q9R0R1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023464
AA Change: L733P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023464 Gene: ENSMUSG00000022780 AA Change: L733P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (46/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc4 |
G |
A |
5: 53,016,473 (GRCm39) |
D484N |
probably damaging |
Het |
Antxr2 |
T |
A |
5: 98,152,769 (GRCm39) |
L109F |
probably damaging |
Het |
Arhgap9 |
A |
G |
10: 127,161,009 (GRCm39) |
T179A |
possibly damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,733,845 (GRCm39) |
I359F |
|
Het |
Btnl1 |
A |
G |
17: 34,604,577 (GRCm39) |
T453A |
probably benign |
Het |
Bub1 |
T |
C |
2: 127,649,927 (GRCm39) |
I644V |
probably benign |
Het |
Ccdc163 |
T |
A |
4: 116,567,483 (GRCm39) |
|
probably null |
Het |
Ccdc8 |
T |
A |
7: 16,728,642 (GRCm39) |
F44I |
probably damaging |
Het |
Ccz1 |
T |
C |
5: 143,940,982 (GRCm39) |
I191V |
probably damaging |
Het |
Cldn1 |
T |
C |
16: 26,190,286 (GRCm39) |
K31E |
possibly damaging |
Het |
Ctr9 |
A |
G |
7: 110,642,237 (GRCm39) |
D321G |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,309,139 (GRCm39) |
N1871D |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,607,005 (GRCm39) |
I2103V |
probably benign |
Het |
Dscaml1 |
A |
G |
9: 45,634,718 (GRCm39) |
E1211G |
probably damaging |
Het |
Eppk1 |
T |
A |
15: 75,994,094 (GRCm39) |
D929V |
probably benign |
Het |
Fam151a |
T |
C |
4: 106,602,819 (GRCm39) |
V246A |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,821,606 (GRCm39) |
I5780V |
probably benign |
Het |
Gart |
A |
T |
16: 91,433,010 (GRCm39) |
M313K |
probably benign |
Het |
Gnl1 |
T |
G |
17: 36,293,486 (GRCm39) |
L224V |
probably damaging |
Het |
Hectd3 |
T |
C |
4: 116,855,604 (GRCm39) |
V368A |
probably benign |
Het |
Ibsp |
C |
T |
5: 104,458,006 (GRCm39) |
A181V |
probably benign |
Het |
Kdm1a |
T |
C |
4: 136,287,716 (GRCm39) |
E421G |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,721,016 (GRCm39) |
Y3831N |
unknown |
Het |
Nod2 |
T |
C |
8: 89,399,379 (GRCm39) |
F898L |
probably benign |
Het |
Npr3 |
A |
T |
15: 11,905,329 (GRCm39) |
Y133N |
probably damaging |
Het |
Or8g29-ps1 |
G |
A |
9: 39,201,018 (GRCm39) |
T56I |
unknown |
Het |
Pkd1l3 |
T |
C |
8: 110,349,842 (GRCm39) |
V229A |
unknown |
Het |
Pramel25 |
C |
A |
4: 143,521,638 (GRCm39) |
T418K |
probably damaging |
Het |
Primpol |
A |
T |
8: 47,046,731 (GRCm39) |
F188L |
probably damaging |
Het |
Rbm15 |
A |
G |
3: 107,240,305 (GRCm39) |
V31A |
probably benign |
Het |
Robo2 |
T |
A |
16: 73,782,570 (GRCm39) |
D322V |
probably damaging |
Het |
Rpl3l |
A |
G |
17: 24,952,711 (GRCm39) |
N114S |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,429,177 (GRCm39) |
D412G |
probably benign |
Het |
Sbno2 |
A |
G |
10: 79,893,360 (GRCm39) |
S1314P |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,867,313 (GRCm39) |
D770G |
probably damaging |
Het |
Skint7 |
T |
C |
4: 111,845,183 (GRCm39) |
F332L |
probably benign |
Het |
Spaca6 |
A |
T |
17: 18,051,365 (GRCm39) |
I34F |
possibly damaging |
Het |
Suclg2 |
T |
A |
6: 95,546,615 (GRCm39) |
E287V |
probably damaging |
Het |
Trhr2 |
T |
C |
8: 123,085,621 (GRCm39) |
Y121C |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,606,371 (GRCm39) |
D18146A |
probably damaging |
Het |
Wdr3 |
G |
A |
3: 100,057,253 (GRCm39) |
T450I |
probably damaging |
Het |
Xab2 |
A |
G |
8: 3,663,254 (GRCm39) |
F470L |
probably benign |
Het |
Ythdc2 |
A |
G |
18: 44,993,691 (GRCm39) |
H912R |
probably damaging |
Het |
Zfp64 |
A |
T |
2: 168,768,635 (GRCm39) |
S326T |
probably benign |
Het |
Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
probably damaging |
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 |
|
R6629:Meltf
|
UTSW |
16 |
31,703,894 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GTACACAGAAATAGCGCTGCC -3'
(R):5'- GGGAAGACTTGGCCTTAACAATC -3'
Sequencing Primer
(F):5'- CTGCCTGTGTGTGATCACCAAG -3'
(R):5'- TGGGTTAGAATCGCACCTCG -3'
|
Posted On |
2021-07-15 |