Incidental Mutation 'R7764:Meltf'
ID |
598147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meltf
|
Ensembl Gene |
ENSMUSG00000022780 |
Gene Name |
melanotransferrin |
Synonyms |
MTf, melanotransferrin, Mfi2, CD228 |
MMRRC Submission |
045820-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7764 (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 31699085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 65
(Q65R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023464]
|
AlphaFold |
Q9R0R1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023464
AA Change: Q65R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000023464 Gene: ENSMUSG00000022780 AA Change: Q65R
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 |
|
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 |
Abcf3 |
T |
G |
16: 20,368,040 (GRCm39) |
L93V |
probably benign |
Het |
Adss2 |
A |
C |
1: 177,591,827 (GRCm39) |
M452R |
probably damaging |
Het |
Aldh3b1 |
T |
A |
19: 3,971,563 (GRCm39) |
K102* |
probably null |
Het |
Ccdc162 |
A |
T |
10: 41,566,109 (GRCm39) |
V78D |
possibly damaging |
Het |
Ccr3 |
T |
C |
9: 123,829,451 (GRCm39) |
V262A |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,890 (GRCm39) |
|
probably null |
Het |
Cdyl |
A |
T |
13: 36,000,126 (GRCm39) |
T136S |
possibly damaging |
Het |
Chd2 |
T |
C |
7: 73,121,567 (GRCm39) |
D1015G |
probably null |
Het |
Cntn2 |
C |
A |
1: 132,450,101 (GRCm39) |
A598S |
probably benign |
Het |
Cxxc4 |
G |
T |
3: 133,945,856 (GRCm39) |
G146C |
unknown |
Het |
Dnah2 |
G |
A |
11: 69,348,984 (GRCm39) |
T2501I |
probably benign |
Het |
Dock8 |
T |
A |
19: 25,074,899 (GRCm39) |
I471N |
probably benign |
Het |
Eaf2 |
A |
G |
16: 36,645,045 (GRCm39) |
V59A |
probably damaging |
Het |
Egflam |
T |
A |
15: 7,347,736 (GRCm39) |
I65F |
probably damaging |
Het |
Exoc3l |
A |
G |
8: 106,017,333 (GRCm39) |
V577A |
possibly damaging |
Het |
Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
Fosb |
T |
C |
7: 19,038,971 (GRCm39) |
D271G |
possibly damaging |
Het |
Frmd4b |
A |
G |
6: 97,272,891 (GRCm39) |
Y834H |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,811,252 (GRCm39) |
S2524P |
possibly damaging |
Het |
Gbp3 |
A |
G |
3: 142,271,024 (GRCm39) |
T143A |
probably benign |
Het |
Grk2 |
A |
T |
19: 4,337,391 (GRCm39) |
L632Q |
probably damaging |
Het |
Hars1 |
A |
T |
18: 36,903,237 (GRCm39) |
D364E |
probably damaging |
Het |
Hsd17b4 |
G |
T |
18: 50,279,482 (GRCm39) |
G154* |
probably null |
Het |
Kif5c |
T |
C |
2: 49,617,973 (GRCm39) |
|
probably null |
Het |
Kif5c |
T |
C |
2: 49,639,339 (GRCm39) |
L800P |
probably damaging |
Het |
Krt19 |
T |
C |
11: 100,032,218 (GRCm39) |
N282S |
probably benign |
Het |
Med23 |
T |
G |
10: 24,785,818 (GRCm39) |
|
probably null |
Het |
Mms22l |
T |
C |
4: 24,598,842 (GRCm39) |
S1106P |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,655,242 (GRCm39) |
T733A |
probably damaging |
Het |
Mul1 |
G |
A |
4: 138,162,080 (GRCm39) |
G4S |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Mylk |
G |
T |
16: 34,742,553 (GRCm39) |
V1022L |
probably benign |
Het |
Ncald |
G |
T |
15: 37,397,454 (GRCm39) |
N75K |
probably damaging |
Het |
Nfib |
A |
G |
4: 82,238,731 (GRCm39) |
S492P |
possibly damaging |
Het |
Notch2 |
A |
T |
3: 98,050,304 (GRCm39) |
I1860F |
probably damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,111 (GRCm39) |
I281T |
probably benign |
Het |
Oxr1 |
T |
C |
15: 41,683,263 (GRCm39) |
S298P |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,190,082 (GRCm39) |
D2818G |
probably benign |
Het |
Pmpcb |
G |
A |
5: 21,948,450 (GRCm39) |
A244T |
probably damaging |
Het |
Poln |
A |
G |
5: 34,274,151 (GRCm39) |
|
probably null |
Het |
Polr1a |
G |
A |
6: 71,930,054 (GRCm39) |
V914M |
probably damaging |
Het |
Rab15 |
A |
C |
12: 76,851,215 (GRCm39) |
|
probably null |
Het |
Rasgrf1 |
G |
T |
9: 89,876,747 (GRCm39) |
S704I |
possibly damaging |
Het |
Rsf1 |
GGCGGCGG |
GGCGGCGGGCGCGGCGG |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
Sart1 |
C |
A |
19: 5,438,613 (GRCm39) |
G15W |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,919,242 (GRCm39) |
*1666W |
probably null |
Het |
Setd1b |
G |
C |
5: 123,284,622 (GRCm39) |
R184P |
unknown |
Het |
Sfxn2 |
A |
T |
19: 46,574,179 (GRCm39) |
N123I |
probably damaging |
Het |
Slc22a3 |
A |
G |
17: 12,677,383 (GRCm39) |
W262R |
probably damaging |
Het |
Slc38a10 |
A |
G |
11: 119,995,905 (GRCm39) |
L1064P |
probably damaging |
Het |
Sorcs2 |
A |
T |
5: 36,181,416 (GRCm39) |
S1077R |
possibly damaging |
Het |
Them7 |
G |
T |
2: 105,128,171 (GRCm39) |
E51* |
probably null |
Het |
Ubc |
A |
G |
5: 125,465,133 (GRCm39) |
S65P |
possibly damaging |
Het |
Ubqln3 |
A |
T |
7: 103,790,443 (GRCm39) |
M549K |
possibly damaging |
Het |
Vmn1r222 |
A |
G |
13: 23,416,529 (GRCm39) |
L228P |
probably damaging |
Het |
Vmn2r60 |
A |
G |
7: 41,844,535 (GRCm39) |
T633A |
probably damaging |
Het |
Zfp382 |
T |
C |
7: 29,832,700 (GRCm39) |
V117A |
probably benign |
Het |
Zic1 |
C |
T |
9: 91,247,745 (GRCm39) |
|
probably benign |
Het |
Zmym4 |
A |
T |
4: 126,819,409 (GRCm39) |
F165I |
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 |
|
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 |
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'- TGTGAGGAAATGCTGTCCTGC -3'
(R):5'- TGGTGCCCATCTAAAACTTCAG -3'
Sequencing Primer
(F):5'- GAAATGCTGTCCTGCCCCAC -3'
(R):5'- TCCCACTTGGCAGGAAAAAGTC -3'
|
Posted On |
2019-11-26 |