Incidental Mutation 'IGL02942:Meltf'
ID |
364544 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Meltf
|
Ensembl Gene |
ENSMUSG00000022780 |
Gene Name |
melanotransferrin |
Synonyms |
MTf, melanotransferrin, Mfi2, CD228 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02942
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
31697628-31717838 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 31709596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 432
(Y432*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023464]
|
AlphaFold |
Q9R0R1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023464
AA Change: Y432*
|
SMART Domains |
Protein: ENSMUSP00000023464 Gene: ENSMUSG00000022780 AA Change: Y432*
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 |
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
C |
15: 91,033,378 (GRCm39) |
D679E |
probably damaging |
Het |
Adh6a |
A |
T |
3: 138,030,642 (GRCm39) |
D88V |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,809,707 (GRCm39) |
V1123I |
probably damaging |
Het |
Apba1 |
T |
C |
19: 23,922,335 (GRCm39) |
V801A |
possibly damaging |
Het |
Bcl2a1a |
C |
T |
9: 88,839,095 (GRCm39) |
|
probably benign |
Het |
Brd8 |
A |
G |
18: 34,743,680 (GRCm39) |
V215A |
possibly damaging |
Het |
Cdk17 |
G |
A |
10: 93,074,830 (GRCm39) |
V454I |
probably benign |
Het |
Chd5 |
G |
A |
4: 152,470,182 (GRCm39) |
G1876D |
probably damaging |
Het |
Clec4g |
T |
C |
8: 3,768,356 (GRCm39) |
E125G |
probably damaging |
Het |
Col24a1 |
G |
A |
3: 145,247,420 (GRCm39) |
G1602D |
probably damaging |
Het |
Depdc7 |
A |
C |
2: 104,558,439 (GRCm39) |
L194R |
probably damaging |
Het |
Dgke |
T |
G |
11: 88,946,195 (GRCm39) |
N202H |
probably benign |
Het |
Dkk2 |
T |
A |
3: 131,883,798 (GRCm39) |
C233S |
probably damaging |
Het |
Dmpk |
A |
C |
7: 18,826,166 (GRCm39) |
D542A |
probably damaging |
Het |
Epb41l4a |
G |
A |
18: 34,007,254 (GRCm39) |
R246W |
probably damaging |
Het |
Frmpd1 |
A |
T |
4: 45,285,493 (GRCm39) |
Q1438L |
probably damaging |
Het |
Gcgr |
A |
G |
11: 120,427,643 (GRCm39) |
|
probably null |
Het |
Gm10295 |
T |
C |
7: 71,000,250 (GRCm39) |
K110R |
unknown |
Het |
Ifrd1 |
A |
G |
12: 40,267,375 (GRCm39) |
|
probably null |
Het |
Inpp5f |
A |
G |
7: 128,296,624 (GRCm39) |
T365A |
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,559,383 (GRCm39) |
K551R |
probably benign |
Het |
Lama2 |
A |
T |
10: 26,917,216 (GRCm39) |
N2236K |
probably damaging |
Het |
Larp7 |
A |
T |
3: 127,337,844 (GRCm39) |
I405N |
possibly damaging |
Het |
Mst1r |
C |
A |
9: 107,790,352 (GRCm39) |
T655K |
possibly damaging |
Het |
Myh1 |
C |
T |
11: 67,093,308 (GRCm39) |
P133L |
probably damaging |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Or52r1c |
A |
T |
7: 102,735,405 (GRCm39) |
M222L |
probably benign |
Het |
Or5b102 |
A |
T |
19: 13,041,552 (GRCm39) |
Q259L |
probably benign |
Het |
Or6a2 |
A |
G |
7: 106,600,561 (GRCm39) |
S169P |
possibly damaging |
Het |
Pfkl |
A |
T |
10: 77,835,967 (GRCm39) |
|
probably null |
Het |
Plekhb2 |
T |
C |
1: 34,916,073 (GRCm39) |
M204T |
probably damaging |
Het |
Ptp4a2 |
G |
A |
4: 129,738,986 (GRCm39) |
|
probably null |
Het |
Rtp4 |
A |
G |
16: 23,431,704 (GRCm39) |
T79A |
probably benign |
Het |
Senp3 |
T |
C |
11: 69,568,815 (GRCm39) |
D410G |
probably benign |
Het |
Slc16a5 |
T |
C |
11: 115,360,176 (GRCm39) |
F120L |
possibly damaging |
Het |
Snrpe |
T |
C |
1: 133,536,669 (GRCm39) |
E37G |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,463,875 (GRCm39) |
T192A |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,668,960 (GRCm39) |
H742L |
possibly damaging |
Het |
Syt12 |
T |
C |
19: 4,497,858 (GRCm39) |
S375G |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,657 (GRCm39) |
L265P |
probably benign |
Het |
Tcp10a |
T |
A |
17: 7,597,318 (GRCm39) |
D158E |
probably damaging |
Het |
Tesk2 |
A |
T |
4: 116,629,017 (GRCm39) |
H122L |
probably damaging |
Het |
Tut7 |
T |
G |
13: 59,959,335 (GRCm39) |
N378H |
probably damaging |
Het |
Unc93b1 |
T |
A |
19: 3,998,686 (GRCm39) |
M535K |
probably damaging |
Het |
Vangl1 |
C |
A |
3: 102,091,347 (GRCm39) |
R246S |
probably damaging |
Het |
Xpo5 |
C |
T |
17: 46,519,059 (GRCm39) |
T166I |
probably damaging |
Het |
Zmiz2 |
T |
C |
11: 6,349,500 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2015-12-18 |