Incidental Mutation 'R6964:Meltf'
| ID |
541911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meltf
|
| Ensembl Gene |
ENSMUSG00000022780 |
| Gene Name |
melanotransferrin |
| Synonyms |
MTf, melanotransferrin, Mfi2, CD228 |
| MMRRC Submission |
045074-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6964 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
31697628-31717838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31698980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 30
(D30G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023464]
|
| AlphaFold |
Q9R0R1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023464
AA Change: D30G
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023464
Gene: ENSMUSG00000022780
AA Change: D30G
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,866,959 (GRCm39) |
Y334* |
probably null |
Het |
| Abcc2 |
A |
C |
19: 43,786,515 (GRCm39) |
I116L |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,559,148 (GRCm39) |
Y313N |
possibly damaging |
Het |
| Adamts17 |
A |
G |
7: 66,654,101 (GRCm39) |
T444A |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,075,091 (GRCm39) |
I153V |
probably damaging |
Het |
| Ambra1 |
C |
T |
2: 91,747,761 (GRCm39) |
Q1046* |
probably null |
Het |
| Ap1g2 |
A |
T |
14: 55,336,722 (GRCm39) |
V750D |
possibly damaging |
Het |
| Bcl7a |
T |
C |
5: 123,507,519 (GRCm39) |
|
probably null |
Het |
| C4bp |
A |
T |
1: 130,585,009 (GRCm39) |
L9Q |
probably damaging |
Het |
| Cadps2 |
A |
C |
6: 23,583,458 (GRCm39) |
V344G |
probably damaging |
Het |
| Car7 |
A |
G |
8: 105,270,213 (GRCm39) |
D15G |
possibly damaging |
Het |
| Cep126 |
G |
C |
9: 8,112,101 (GRCm39) |
H157Q |
probably null |
Het |
| Chst11 |
C |
T |
10: 83,027,215 (GRCm39) |
T214I |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,200,317 (GRCm39) |
R526* |
probably null |
Het |
| Cul1 |
A |
G |
6: 47,493,443 (GRCm39) |
T445A |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,454,206 (GRCm39) |
V363A |
possibly damaging |
Het |
| Dock10 |
T |
A |
1: 80,481,365 (GRCm39) |
|
probably benign |
Het |
| Donson |
A |
G |
16: 91,478,107 (GRCm39) |
Y465H |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,135,685 (GRCm39) |
A118V |
probably benign |
Het |
| Fam47e |
A |
T |
5: 92,713,911 (GRCm39) |
Q180L |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,496,982 (GRCm39) |
C4156G |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,702,599 (GRCm39) |
I441K |
probably damaging |
Het |
| Frmd4b |
C |
T |
6: 97,282,158 (GRCm39) |
R510Q |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,946,415 (GRCm39) |
A71V |
probably damaging |
Het |
| Gfap |
G |
A |
11: 102,787,783 (GRCm39) |
A54V |
possibly damaging |
Het |
| Gjc3 |
C |
T |
5: 137,955,759 (GRCm39) |
M175I |
probably benign |
Het |
| Gm10645 |
C |
T |
8: 83,892,581 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
G |
A |
7: 30,357,040 (GRCm39) |
P464S |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,872,221 (GRCm39) |
I2584F |
probably damaging |
Het |
| Mak |
T |
A |
13: 41,186,067 (GRCm39) |
I534L |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,777 (GRCm39) |
D159G |
probably benign |
Het |
| Mcat |
A |
G |
15: 83,432,132 (GRCm39) |
|
probably benign |
Het |
| Ntng2 |
T |
A |
2: 29,087,041 (GRCm39) |
Y452F |
probably benign |
Het |
| Or10ag60 |
T |
C |
2: 87,437,957 (GRCm39) |
L75P |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,333 (GRCm39) |
I246F |
probably benign |
Het |
| Or5b118 |
T |
A |
19: 13,448,725 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p53 |
A |
T |
7: 107,532,966 (GRCm39) |
I80L |
probably benign |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pianp |
T |
A |
6: 124,976,353 (GRCm39) |
V54D |
possibly damaging |
Het |
| Ptprn |
T |
C |
1: 75,237,293 (GRCm39) |
D103G |
possibly damaging |
Het |
| Rhcg |
A |
G |
7: 79,250,279 (GRCm39) |
V268A |
probably benign |
Het |
| Rhoj |
T |
A |
12: 75,422,163 (GRCm39) |
Y74N |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,225,697 (GRCm39) |
S235P |
probably benign |
Het |
| Snx13 |
A |
C |
12: 35,169,788 (GRCm39) |
T578P |
possibly damaging |
Het |
| Star |
T |
A |
8: 26,301,851 (GRCm39) |
H227Q |
probably benign |
Het |
| Stau2 |
A |
C |
1: 16,460,229 (GRCm39) |
M204R |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,568 (GRCm39) |
Y43C |
probably damaging |
Het |
| Syt8 |
A |
G |
7: 141,993,158 (GRCm39) |
E21G |
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,535,500 (GRCm39) |
V156A |
probably damaging |
Het |
| Tmem106b |
C |
T |
6: 13,082,422 (GRCm39) |
T199M |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,835,373 (GRCm39) |
T1583A |
probably damaging |
Het |
| Tom1 |
G |
A |
8: 75,778,593 (GRCm39) |
V87I |
probably null |
Het |
| Treml4 |
G |
T |
17: 48,579,847 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,544,457 (GRCm39) |
K32843R |
probably damaging |
Het |
| Wdr95 |
T |
G |
5: 149,505,315 (GRCm39) |
C223W |
probably damaging |
Het |
| Wipi1 |
C |
T |
11: 109,494,590 (GRCm39) |
R81Q |
probably benign |
Het |
| Zc3h7a |
G |
A |
16: 10,967,088 (GRCm39) |
T568I |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,615,643 (GRCm39) |
I228N |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,223,519 (GRCm39) |
V10E |
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 |
|
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'- CTAGGTTATGAGCCACCCATCTG -3'
(R):5'- TGCATTCCTCCTGAGTCAGAG -3'
Sequencing Primer
(F):5'- CGAGTCCGTAGCACCGATTC -3'
(R):5'- GAGTCAGAGCCCTCTTGTCTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation