Mutagenetix > Incidental Mutation

Incidental Mutation 'R9214:Meltf'

699094

Institutional Source

Beutler Lab

Gene Symbol

Meltf

Ensembl Gene

ENSMUSG00000022780

Gene Name

melanotransferrin

Synonyms

MTf, melanotransferrin, Mfi2, CD228

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31697628-31717838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31697763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 7 (T7A)

Ref Sequence

ENSEMBL: ENSMUSP00000023464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023464] [ENSMUST00000115205]

AlphaFold

Q9R0R1

Predicted Effect

probably benign
Transcript: ENSMUST00000023464
AA Change: T7A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023464
Gene: ENSMUSG00000022780
AA Change: T7A

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 benign
Transcript: ENSMUST00000115205

SMART Domains

Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770

Domain	Start	End	E-Value	Type
L27	7	67	7.33e-12	SMART
MAGUK_N_PEST	106	223	6.07e-57	SMART
PDZ	232	311	5.98e-22	SMART
PDZ	327	406	1.94e-21	SMART
PDZ	474	547	1.84e-22	SMART
low complexity region	567	575	N/A	INTRINSIC
SH3	584	650	1.27e-9	SMART
GuKc	714	893	1.54e-75	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,890,653 (GRCm39)	D352G	probably benign	Het
Abi1	A	T	2: 22,831,989 (GRCm39)	Y447*	probably null	Het
Acot1	A	G	12: 84,064,189 (GRCm39)	Y124C		Het
Adgrf4	T	C	17: 42,978,704 (GRCm39)	N213S	possibly damaging	Het
Alg9	T	A	9: 50,717,545 (GRCm39)	Y443N	probably damaging	Het
Bhlhe22	A	G	3: 18,109,024 (GRCm39)	T25A	probably benign	Het
Bpifa1	C	A	2: 153,985,789 (GRCm39)	P35T	unknown	Het
Btbd16	T	C	7: 130,381,437 (GRCm39)		probably null	Het
Ccdc187	G	T	2: 26,183,409 (GRCm39)	T197K	probably benign	Het
Cd209b	A	G	8: 3,968,771 (GRCm39)	V295A	probably benign	Het
Cdcp3	C	T	7: 130,824,481 (GRCm39)	S192L	possibly damaging	Het
Clrn2	G	T	5: 45,617,518 (GRCm39)	A130S	probably benign	Het
Cnrip1	A	G	11: 17,004,740 (GRCm39)	T97A	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cyfip1	T	A	7: 55,523,273 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,286,119 (GRCm39)	S278P	probably benign	Het
Dnah12	A	C	14: 26,445,060 (GRCm39)	E654D	probably benign	Het
Efcab7	T	C	4: 99,735,437 (GRCm39)	S154P	probably damaging	Het
Emcn	T	C	3: 137,047,029 (GRCm39)	F10S	probably damaging	Het
Fhip2a	A	G	19: 57,373,756 (GRCm39)	H672R	probably damaging	Het
Flg2	G	T	3: 93,110,884 (GRCm39)	A971S	unknown	Het
Gli2	A	T	1: 118,795,791 (GRCm39)	H121Q	probably damaging	Het
Gm3633	A	G	14: 42,460,359 (GRCm39)		probably benign	Het
Golga2	T	C	2: 32,195,822 (GRCm39)	L846P	probably damaging	Het
Golga7b	A	T	19: 42,255,440 (GRCm39)	I106F	probably damaging	Het
Hltf	T	C	3: 20,140,280 (GRCm39)	S460P	probably benign	Het
Hyal5	A	G	6: 24,876,403 (GRCm39)	Y92C	probably damaging	Het
Kif19b	G	A	5: 140,468,257 (GRCm39)	R649Q	probably benign	Het
Mapk1	T	A	16: 16,853,549 (GRCm39)	C84S	probably benign	Het
Marchf10	A	G	11: 105,281,100 (GRCm39)	V395A	probably benign	Het
Mfhas1	T	A	8: 36,057,730 (GRCm39)	V735D	probably damaging	Het
Mia2	G	T	12: 59,223,150 (GRCm39)	R486L	possibly damaging	Het
Mmp20	T	C	9: 7,628,327 (GRCm39)	L25P	probably benign	Het
Mprip	C	T	11: 59,650,901 (GRCm39)	T1535I	possibly damaging	Het
Mrpl9	T	A	3: 94,355,126 (GRCm39)	S233T	possibly damaging	Het
Muc21	T	A	17: 35,931,838 (GRCm39)	S783C	unknown	Het
Nckap5	A	C	1: 125,942,376 (GRCm39)	V1576G	probably benign	Het
Ntng1	T	C	3: 109,841,921 (GRCm39)	Y284C	probably damaging	Het
Numa1	T	A	7: 101,650,139 (GRCm39)	V1290D	probably damaging	Het
Or52l1	T	G	7: 104,829,587 (GRCm39)	Y326S	probably benign	Het
Pcdhgc4	A	T	18: 37,950,264 (GRCm39)	D560V	probably damaging	Het
Pla2g1b	A	G	5: 115,610,107 (GRCm39)	K84E	possibly damaging	Het
Pramel16	T	C	4: 143,675,750 (GRCm39)	I359V	probably benign	Het
Prrt4	C	T	6: 29,170,767 (GRCm39)	A562T	possibly damaging	Het
Rab6a	T	C	7: 100,275,786 (GRCm39)	F33S	probably damaging	Het
Rgs11	A	G	17: 26,427,260 (GRCm39)	Y397C	probably damaging	Het
Rnf43	A	T	11: 87,622,111 (GRCm39)	H277L	probably benign	Het
Ryr1	A	G	7: 28,785,187 (GRCm39)	S1842P	possibly damaging	Het
Slc25a34	C	T	4: 141,350,641 (GRCm39)	A123T	probably damaging	Het
Smoc2	A	G	17: 14,556,839 (GRCm39)	Y96C	probably damaging	Het
Sqle	A	G	15: 59,194,765 (GRCm39)	E267G	probably benign	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stx6	T	A	1: 155,067,210 (GRCm39)	N133K	probably benign	Het
Taf7l2	T	C	10: 115,948,903 (GRCm39)	T208A	probably benign	Het
Thoc5	A	T	11: 4,864,303 (GRCm39)	Q320L	probably benign	Het
Tmc4	G	C	7: 3,670,497 (GRCm39)	C531W	probably damaging	Het
Tmigd1	A	G	11: 76,801,031 (GRCm39)	T173A	probably damaging	Het
Tpp2	A	C	1: 44,031,514 (GRCm39)	M1111L	probably benign	Het
Ttc21a	T	C	9: 119,772,941 (GRCm39)	V206A	probably benign	Het
Ulk1	A	T	5: 110,936,663 (GRCm39)	V758E	possibly damaging	Het
Vdr	T	A	15: 97,767,600 (GRCm39)	H130L	probably benign	Het
Vps13b	A	G	15: 35,623,892 (GRCm39)	T1270A	probably damaging	Het
Zc3h13	A	G	14: 75,560,991 (GRCm39)	D527G	unknown	Het
Zfp512	C	T	5: 31,637,434 (GRCm39)	R508W	probably damaging	Het
Zfp606	A	G	7: 12,215,026 (GRCm39)	T85A	unknown	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
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
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'- AGAAAGCCAAGGCCATGCTG -3'
(R):5'- AGGATTGCCTGCATCCTGTC -3'

Sequencing Primer
(F):5'- CTGGTCAGCCTAGGTGTTCAG -3'
(R):5'- CCTGACATCTGGCATGATTTTTCGAG -3'

Posted On

2022-02-07