Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01811:Meltf'

154271

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) question?

Stock #

IGL01811

Quality Score

Status

Chromosome

Chromosomal Location

31697628-31717838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31707803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 397 (C397R)

Ref Sequence

ENSEMBL: ENSMUSP00000023464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023464]

AlphaFold

Q9R0R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023464
AA Change: C397R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023464
Gene: ENSMUSG00000022780
AA Change: C397R

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	G	A	13: 95,488,080 (GRCm39)	T689I	probably benign	Het
Ap1m2	A	G	9: 21,210,600 (GRCm39)	V343A	probably benign	Het
Ccbe1	A	G	18: 66,199,798 (GRCm39)		probably null	Het
Cd1d1	T	C	3: 86,903,895 (GRCm39)	I204V	possibly damaging	Het
Cpeb3	G	A	19: 37,022,008 (GRCm39)	R613C	probably damaging	Het
Dock9	A	T	14: 121,796,440 (GRCm39)	F1821I	probably damaging	Het
Dst	A	T	1: 34,203,173 (GRCm39)	Q694L	probably damaging	Het
Kansl1l	A	G	1: 66,762,462 (GRCm39)	S802P	probably damaging	Het
Myo1d	A	T	11: 80,583,823 (GRCm39)	V63D	probably damaging	Het
Or4c101	C	T	2: 88,390,409 (GRCm39)	L199F	probably benign	Het
Pycr1	T	A	11: 120,532,092 (GRCm39)	S225C	probably benign	Het
Tbc1d9	T	A	8: 83,960,307 (GRCm39)	C187S	probably damaging	Het
Tnfrsf21	A	C	17: 43,348,504 (GRCm39)	I39L	probably benign	Het
Tnn	T	C	1: 159,934,705 (GRCm39)	D972G	probably damaging	Het

Other mutations in Meltf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-02-04