Incidental Mutation 'R3423:Meltf'
ID |
267135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meltf
|
Ensembl Gene |
ENSMUSG00000022780 |
Gene Name |
melanotransferrin |
Synonyms |
MTf, melanotransferrin, Mfi2, CD228 |
MMRRC Submission |
040641-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3423 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
31697628-31717838 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 31715343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 679
(R679*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023464]
|
AlphaFold |
Q9R0R1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023464
AA Change: R679*
|
SMART Domains |
Protein: ENSMUSP00000023464 Gene: ENSMUSG00000022780 AA Change: R679*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (38/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8 |
A |
G |
17: 32,535,429 (GRCm39) |
F195S |
possibly damaging |
Het |
Aldh3a1 |
G |
A |
11: 61,106,362 (GRCm39) |
A246T |
probably damaging |
Het |
Caskin1 |
T |
A |
17: 24,718,539 (GRCm39) |
N331K |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,491,562 (GRCm39) |
S644N |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
Cyp4a12a |
A |
C |
4: 115,184,471 (GRCm39) |
K282T |
probably benign |
Het |
Dtnb |
C |
T |
12: 3,641,962 (GRCm39) |
R42* |
probably null |
Het |
Dyrk3 |
A |
G |
1: 131,057,219 (GRCm39) |
I318T |
probably damaging |
Het |
Fhip2b |
G |
A |
14: 70,824,025 (GRCm39) |
T535M |
probably damaging |
Het |
Gm11110 |
T |
C |
17: 57,410,435 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
Igfn1 |
A |
G |
1: 135,926,379 (GRCm39) |
S24P |
probably benign |
Het |
Inpp4b |
A |
G |
8: 82,678,890 (GRCm39) |
M307V |
possibly damaging |
Het |
Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
Kmt2a |
A |
C |
9: 44,731,394 (GRCm39) |
|
probably benign |
Het |
Limk1 |
A |
G |
5: 134,701,523 (GRCm39) |
|
probably null |
Het |
Lrrc14 |
T |
A |
15: 76,597,318 (GRCm39) |
|
probably null |
Het |
Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Mug2 |
T |
C |
6: 122,024,465 (GRCm39) |
|
probably benign |
Het |
Myo15a |
G |
A |
11: 60,401,126 (GRCm39) |
|
probably null |
Het |
Nup98 |
T |
C |
7: 101,834,084 (GRCm39) |
T293A |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,957,504 (GRCm39) |
Y278F |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,761 (GRCm39) |
D184V |
probably benign |
Het |
Phactr4 |
A |
C |
4: 132,097,058 (GRCm39) |
D496E |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,341,140 (GRCm39) |
|
probably null |
Het |
Ptprq |
C |
T |
10: 107,418,337 (GRCm39) |
A1680T |
probably damaging |
Het |
Retnlb |
T |
A |
16: 48,639,008 (GRCm39) |
C70S |
probably damaging |
Het |
Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,650,327 (GRCm39) |
N865D |
probably damaging |
Het |
Sp9 |
G |
A |
2: 73,104,315 (GRCm39) |
A290T |
probably benign |
Het |
Spg11 |
C |
T |
2: 121,901,534 (GRCm39) |
V1469I |
probably benign |
Het |
Unc13c |
G |
T |
9: 73,837,935 (GRCm39) |
A972D |
possibly damaging |
Het |
Vwa3a |
T |
C |
7: 120,398,334 (GRCm39) |
L945P |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTTCCACTGAGAGACTTG -3'
(R):5'- GGATACCCTTCAATGTCCTCAG -3'
Sequencing Primer
(F):5'- ACTTGGGGCCCTGAAATG -3'
(R):5'- CACCCCTGTGATTATGGGG -3'
|
Posted On |
2015-02-18 |