Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Meltf'

391056

Institutional Source

Beutler Lab

Gene Symbol

Meltf

Ensembl Gene

ENSMUSG00000022780

Gene Name

melanotransferrin

Synonyms

MTf, CD228, melanotransferrin, Mfi2

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31878810-31899020 bp(+) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 31887603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023464 (fasta)

Gene Model

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

AlphaFold

Q9R0R1

Predicted Effect

probably null
Transcript: ENSMUST00000023464

SMART Domains

Protein: ENSMUSP00000023464
Gene: ENSMUSG00000022780

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

Predicted Effect

probably null
Transcript: ENSMUST00000023464

SMART Domains

Protein: ENSMUSP00000023464
Gene: ENSMUSG00000022780

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,242,625	Y222C	probably damaging	Het
Adprhl2	A	G	4: 126,318,445	S94P	probably damaging	Het
Atp11b	A	G	3: 35,809,361	E202G	probably benign	Het
Cacna1d	G	T	14: 30,114,244	S849*	probably null	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,504,745	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,817,547		probably benign	Het
Cfap44	G	A	16: 44,420,204		probably null	Het
Col17a1	C	A	19: 47,685,550	E13*	probably null	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dennd6b	A	G	15: 89,187,350	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,422,231	Y638D	probably benign	Het
Epb41	G	A	4: 132,007,435		probably benign	Het
Esp31	A	T	17: 38,644,609	I48L	possibly damaging	Het
Fat3	T	C	9: 15,996,858	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,219,133	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262	E1792*	probably null	Het
Fzd2	G	A	11: 102,604,807	G26R	probably damaging	Het
Gm11677	T	A	11: 111,725,438		noncoding transcript	Het
Gm7137	A	T	10: 77,788,071		probably benign	Het
Hnrnpr	A	G	4: 136,336,337	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,485	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,463,928		probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Muc6	T	C	7: 141,644,224	D1213G	probably benign	Het
Ncam1	A	C	9: 49,798,695	F12C	probably benign	Het
Nfxl1	A	T	5: 72,556,239	D120E	probably benign	Het
Nrg1	T	C	8: 31,824,559	Q142R	probably damaging	Het
Olfr132	G	A	17: 38,130,541	S217F	probably damaging	Het
Olfr180	T	C	16: 58,916,072	T190A	probably benign	Het
Olfr250	C	A	9: 38,367,924	T116K	probably damaging	Het
Olfr347	T	G	2: 36,734,999	L226R	possibly damaging	Het
Olfr466	C	A	13: 65,152,929	A235D	possibly damaging	Het
Olfr684	T	C	7: 105,157,148	N178S	probably damaging	Het
Olfr948	C	A	9: 39,318,664	V317L	probably benign	Het
Olfr95	A	G	17: 37,211,667	L62P	probably damaging	Het
Padi2	G	T	4: 140,932,121	V246L	probably benign	Het
Pgghg	C	T	7: 140,942,542	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,112,758	N1117S	probably benign	Het
Plch1	G	T	3: 63,722,781	T534K	probably damaging	Het
Poc1a	G	T	9: 106,349,813		probably benign	Het
Polr3c	T	C	3: 96,723,517	I196V	probably benign	Het
Prph	A	T	15: 99,055,232		probably benign	Het
Ptprg	C	A	14: 12,037,387	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,704,014	I183N	probably damaging	Het
Rundc1	T	C	11: 101,425,537	L145P	probably benign	Het
Slc26a3	A	G	12: 31,470,965	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,659,191	E2G	possibly damaging	Het
Slc9a5	G	T	8: 105,355,858	V252L	probably benign	Het
Smim26	C	T	2: 144,595,123	T64M	probably benign	Het
Socs4	C	T	14: 47,290,132	R175*	probably null	Het
Srebf2	T	C	15: 82,182,050	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,659,742	S115T	probably damaging	Het
Tenm2	T	C	11: 36,207,080	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,676,329	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,167,457	V300A	probably benign	Het
Tle6	T	A	10: 81,594,238	N332I	possibly damaging	Het
Tle6	C	A	10: 81,595,957	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,224,207	V36M	probably damaging	Het
Tns2	T	C	15: 102,107,860	I211T	possibly damaging	Het
Trp63	A	G	16: 25,882,594	N379D	probably damaging	Het
Trpc2	T	C	7: 102,089,109	W433R	probably damaging	Het
Tyw1	T	A	5: 130,277,086	L350Q	probably benign	Het
Usf3	T	C	16: 44,212,707	L76P	probably damaging	Het
Vmn2r79	T	C	7: 87,002,215	L274P	probably damaging	Het

Other mutations in Meltf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01811:Meltf	APN	16	31888985	missense	probably damaging	1.00
IGL02942:Meltf	APN	16	31890778	nonsense	probably null
IGL03340:Meltf	APN	16	31892784	missense	probably damaging	1.00
R0734:Meltf	UTSW	16	31881958	missense	probably damaging	0.99
R1023:Meltf	UTSW	16	31884960	missense	probably damaging	1.00
R1751:Meltf	UTSW	16	31883929	missense	probably damaging	1.00
R1767:Meltf	UTSW	16	31883929	missense	probably damaging	1.00
R1851:Meltf	UTSW	16	31896577	missense	probably benign	0.00
R1900:Meltf	UTSW	16	31881969	critical splice donor site	probably null
R1993:Meltf	UTSW	16	31892622	nonsense	probably null
R3423:Meltf	UTSW	16	31896525	nonsense	probably null
R3425:Meltf	UTSW	16	31896525	nonsense	probably null
R3804:Meltf	UTSW	16	31884998	missense	probably benign	0.23
R4724:Meltf	UTSW	16	31892505	missense	probably benign	0.03
R4976:Meltf	UTSW	16	31894714	missense	probably benign	0.01
R5007:Meltf	UTSW	16	31887562	missense	possibly damaging	0.60
R5534:Meltf	UTSW	16	31890814	critical splice donor site	probably null
R5661:Meltf	UTSW	16	31881926	missense	possibly damaging	0.65
R6028:Meltf	UTSW	16	31887476	missense	possibly damaging	0.91
R6424:Meltf	UTSW	16	31880262	nonsense	probably null
R6464:Meltf	UTSW	16	31890776	missense	probably benign	0.19
R6479:Meltf	UTSW	16	31881882	missense	probably damaging	1.00
R6525:Meltf	UTSW	16	31888899	nonsense	probably null
R6629:Meltf	UTSW	16	31885076	missense	probably damaging	1.00
R6964:Meltf	UTSW	16	31880162	missense	probably benign	0.41
R7133:Meltf	UTSW	16	31892799	missense	probably damaging	1.00
R7169:Meltf	UTSW	16	31880162	missense	probably benign	0.41
R7198:Meltf	UTSW	16	31883799	missense	possibly damaging	0.61
R7212:Meltf	UTSW	16	31890814	critical splice donor site	probably null
R7246:Meltf	UTSW	16	31894862	missense	probably damaging	1.00
R7407:Meltf	UTSW	16	31894735	missense	probably damaging	1.00
R7424:Meltf	UTSW	16	31884946	missense	probably damaging	1.00
R7475:Meltf	UTSW	16	31881938	missense	probably benign	0.12
R7727:Meltf	UTSW	16	31883794	missense	probably damaging	0.99
R7764:Meltf	UTSW	16	31880267	missense	probably benign	0.01
R8220:Meltf	UTSW	16	31887415	missense	probably benign	0.01
R8840:Meltf	UTSW	16	31897202	missense	probably damaging	0.98
R8896:Meltf	UTSW	16	31890704	splice site	probably benign
R9214:Meltf	UTSW	16	31878945	missense	probably benign
R9563:Meltf	UTSW	16	31885051	missense	probably damaging	1.00
R9638:Meltf	UTSW	16	31887591	missense	possibly damaging	0.87
X0062:Meltf	UTSW	16	31880200	missense	probably damaging	1.00
Z1177:Meltf	UTSW	16	31880234	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGTCCCTGATGTCAGAGG -3'
(R):5'- AGCCAACGATCTTATGCGC -3'

Sequencing Primer
(F):5'- GTCAGAGGACTTCCAGCTACTATG -3'
(R):5'- TGTAGGAAGGGCTGCGACC -3'

Posted On

2016-06-06