Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Ltf'

663856

Institutional Source

Beutler Lab

Gene Symbol

Ltf

Ensembl Gene

ENSMUSG00000032496

Gene Name

lactotransferrin

Synonyms

lactoferrin, Lf

MMRRC Submission

068594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110848360-110871834 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 110860192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 538 (K538*)

Ref Sequence

ENSEMBL: ENSMUSP00000035077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035077] [ENSMUST00000196209] [ENSMUST00000198884]

AlphaFold

P08071

Predicted Effect

probably null
Transcript: ENSMUST00000035077
AA Change: K538*

SMART Domains

Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: K538*

Domain	Start	End	E-Value	Type
TR_FER	24	362	1.48e-209	SMART
TR_FER	363	696	4.68e-212	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196209

SMART Domains

Protein: ENSMUSP00000143731
Gene: ENSMUSG00000032496

Domain	Start	End	E-Value	Type
Pfam:Transferrin	13	78	3.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198152

Predicted Effect

probably benign
Transcript: ENSMUST00000198884

SMART Domains

Protein: ENSMUSP00000142432
Gene: ENSMUSG00000032496

Domain	Start	End	E-Value	Type
TR_FER	1	95	4.3e-5	SMART

Predicted Effect

silent
Transcript: ENSMUST00000199313

Predicted Effect

silent
Transcript: ENSMUST00000199815

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and grossly normal and exhibit only minor alterations in iron homeostasis. Mice homozygous for a different knock-out allele show increased susceptibility to inflammation-induced colorectal dysplasia along with increased cell proliferation and decreased apoptosis in colonic tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,813 (GRCm39)	I278N	probably damaging	Het
Adcy9	A	G	16: 4,129,492 (GRCm39)	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,748,574 (GRCm39)	V468I	possibly damaging	Het
Ahnak	A	C	19: 8,987,509 (GRCm39)	K2931T	probably damaging	Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Birc6	G	A	17: 74,955,135 (GRCm39)	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccm2l	A	T	2: 152,909,695 (GRCm39)	I16F	probably benign	Het
Cep72	G	A	13: 74,198,303 (GRCm39)	S359F	possibly damaging	Het
Col1a1	A	G	11: 94,838,100 (GRCm39)	N844S	unknown	Het
Col7a1	C	T	9: 108,796,730 (GRCm39)	P1623S	possibly damaging	Het
Crybg1	T	C	10: 43,880,838 (GRCm39)	K117E	probably benign	Het
Csmd3	A	G	15: 47,845,402 (GRCm39)	C54R		Het
Dlg1	A	G	16: 31,600,648 (GRCm39)	T211A	probably benign	Het
Emc1	C	A	4: 139,097,279 (GRCm39)	H724N	possibly damaging	Het
Epg5	A	C	18: 78,008,223 (GRCm39)	N784H	probably benign	Het
Epg5	T	A	18: 78,008,225 (GRCm39)	N784K	probably benign	Het
Epg5	A	T	18: 78,008,224 (GRCm39)	N784I	possibly damaging	Het
Erc2	A	G	14: 27,802,145 (GRCm39)	E771G	possibly damaging	Het
Exo1	T	C	1: 175,719,678 (GRCm39)	V241A	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,140,127 (GRCm39)	M529K	probably damaging	Het
Fhad1	T	C	4: 141,646,134 (GRCm39)	E276G	probably benign	Het
Frem1	G	A	4: 82,889,015 (GRCm39)	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,568,078 (GRCm39)	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,229,117 (GRCm39)	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,785,510 (GRCm39)	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,749,867 (GRCm39)	Y516F	unknown	Het
Hdac5	A	T	11: 102,109,280 (GRCm39)	I38N	probably benign	Het
Hectd4	T	A	5: 121,501,838 (GRCm39)	C4190*	probably null	Het
Helb	A	T	10: 119,925,412 (GRCm39)	D988E	probably benign	Het
Herc6	C	T	6: 57,639,359 (GRCm39)	S909L	probably damaging	Het
Ice1	A	T	13: 70,751,010 (GRCm39)	V1692E	probably damaging	Het
Ino80	A	G	2: 119,237,389 (GRCm39)	Y1107H	probably benign	Het
Kif9	A	T	9: 110,330,724 (GRCm39)	Y350F	probably benign	Het
Lct	T	A	1: 128,221,534 (GRCm39)	T1570S	probably benign	Het
Lias	T	A	5: 65,557,193 (GRCm39)	N203K	probably benign	Het
Lrrtm4	A	G	6: 79,999,092 (GRCm39)	N168S	probably damaging	Het
Lysmd4	A	G	7: 66,875,787 (GRCm39)	D150G	probably benign	Het
Magi2	A	G	5: 20,739,462 (GRCm39)	D572G	probably benign	Het
Meiob	T	C	17: 25,047,008 (GRCm39)		probably null	Het
Ncor2	T	C	5: 125,115,964 (GRCm39)	Y130C		Het
Ntmt2	T	A	1: 163,544,738 (GRCm39)	T82S	probably benign	Het
Ofcc1	A	G	13: 40,409,072 (GRCm39)	S118P	probably benign	Het
Or10g3	A	G	14: 52,610,420 (GRCm39)	F30S	probably benign	Het
Or2t45	A	G	11: 58,669,213 (GRCm39)	T87A	probably benign	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Parp14	A	T	16: 35,677,181 (GRCm39)	M929K	probably benign	Het
Pcdh8	T	C	14: 80,006,229 (GRCm39)	E778G	probably benign	Het
Pgls	T	C	8: 72,047,838 (GRCm39)	V211A	probably benign	Het
Pkd2	T	A	5: 104,637,151 (GRCm39)	M588K	probably damaging	Het
Pms1	T	C	1: 53,231,269 (GRCm39)	N860S	probably benign	Het
Psg19	C	T	7: 18,530,888 (GRCm39)	V89M	probably benign	Het
Reln	T	C	5: 22,147,672 (GRCm39)	H2426R	probably benign	Het
Ripor2	T	A	13: 24,885,050 (GRCm39)	N428K	possibly damaging	Het
Slc12a4	C	T	8: 106,676,285 (GRCm39)		probably null	Het
Slc25a3	T	C	10: 90,952,960 (GRCm39)	I314V	probably benign	Het
Slc29a1	C	A	17: 45,900,688 (GRCm39)	V125F	probably benign	Het
Slc9a5	T	A	8: 106,085,981 (GRCm39)	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Smg7	T	C	1: 152,719,129 (GRCm39)	D874G	probably damaging	Het
Spef2	T	A	15: 9,729,723 (GRCm39)	K132*	probably null	Het
Tap1	A	G	17: 34,412,133 (GRCm39)	K446R	probably benign	Het
Tcam1	A	T	11: 106,176,443 (GRCm39)	T390S	possibly damaging	Het
Tnik	A	G	3: 28,666,057 (GRCm39)	N687D	probably damaging	Het
Trim42	T	C	9: 97,251,852 (GRCm39)	R16G	possibly damaging	Het
Vcp	A	C	4: 42,984,658 (GRCm39)	L411W	probably damaging	Het
Vma21-ps	C	A	4: 52,496,973 (GRCm39)	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,903,452 (GRCm39)	T109A	probably benign	Het
Vmn2r67	C	T	7: 84,801,450 (GRCm39)	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 19,044,021 (GRCm39)	T366A	probably benign	Het
Zfp804a	A	G	2: 82,066,190 (GRCm39)	K54E	probably damaging	Het

Other mutations in Ltf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Ltf	APN	9	110,851,950 (GRCm39)	splice site	probably null
IGL01068:Ltf	APN	9	110,864,880 (GRCm39)	splice site	probably null
IGL01311:Ltf	APN	9	110,860,080 (GRCm39)	unclassified	probably benign
IGL01629:Ltf	APN	9	110,864,874 (GRCm39)	missense	probably damaging	1.00
IGL01765:Ltf	APN	9	110,851,085 (GRCm39)	missense	possibly damaging	0.86
IGL02376:Ltf	APN	9	110,858,692 (GRCm39)	missense	probably benign	0.01
IGL02429:Ltf	APN	9	110,855,193 (GRCm39)	missense	possibly damaging	0.87
IGL02947:Ltf	APN	9	110,868,015 (GRCm39)	missense	probably benign	0.01
IGL03025:Ltf	APN	9	110,854,169 (GRCm39)	missense	possibly damaging	0.93
R0041:Ltf	UTSW	9	110,858,636 (GRCm39)	missense	possibly damaging	0.92
R0364:Ltf	UTSW	9	110,854,235 (GRCm39)	missense	probably benign	0.19
R0718:Ltf	UTSW	9	110,869,447 (GRCm39)	missense	probably benign	0.01
R1899:Ltf	UTSW	9	110,851,913 (GRCm39)	missense	possibly damaging	0.84
R1900:Ltf	UTSW	9	110,851,913 (GRCm39)	missense	possibly damaging	0.84
R2964:Ltf	UTSW	9	110,857,540 (GRCm39)	missense	possibly damaging	0.81
R2965:Ltf	UTSW	9	110,857,540 (GRCm39)	missense	possibly damaging	0.81
R2966:Ltf	UTSW	9	110,857,540 (GRCm39)	missense	possibly damaging	0.81
R3051:Ltf	UTSW	9	110,853,590 (GRCm39)	missense	probably benign	0.00
R3122:Ltf	UTSW	9	110,851,968 (GRCm39)	missense	probably damaging	1.00
R4427:Ltf	UTSW	9	110,852,672 (GRCm39)	missense	probably damaging	1.00
R4597:Ltf	UTSW	9	110,852,001 (GRCm39)	missense	probably damaging	1.00
R4604:Ltf	UTSW	9	110,851,409 (GRCm39)	missense	probably damaging	0.99
R4827:Ltf	UTSW	9	110,856,445 (GRCm39)	unclassified	probably benign
R4849:Ltf	UTSW	9	110,855,058 (GRCm39)	missense	probably benign	0.00
R5389:Ltf	UTSW	9	110,858,719 (GRCm39)	missense	possibly damaging	0.50
R5677:Ltf	UTSW	9	110,849,980 (GRCm39)	start codon destroyed	probably null	0.01
R6419:Ltf	UTSW	9	110,860,090 (GRCm39)	missense	possibly damaging	0.67
R6891:Ltf	UTSW	9	110,854,181 (GRCm39)	missense	probably benign	0.13
R7032:Ltf	UTSW	9	110,855,198 (GRCm39)	critical splice donor site	probably null
R7090:Ltf	UTSW	9	110,855,048 (GRCm39)	missense	probably benign	0.00
R7352:Ltf	UTSW	9	110,857,518 (GRCm39)	missense	probably benign
R7656:Ltf	UTSW	9	110,853,462 (GRCm39)	nonsense	probably null
R7857:Ltf	UTSW	9	110,851,444 (GRCm39)	missense	probably benign	0.00
R8798:Ltf	UTSW	9	110,852,828 (GRCm39)	unclassified	probably benign
R8802:Ltf	UTSW	9	110,850,018 (GRCm39)	missense	probably benign	0.00
R9158:Ltf	UTSW	9	110,868,003 (GRCm39)	missense	probably damaging	1.00
R9450:Ltf	UTSW	9	110,851,064 (GRCm39)	missense	probably damaging	1.00
R9772:Ltf	UTSW	9	110,869,425 (GRCm39)	missense	unknown
Z1177:Ltf	UTSW	9	110,853,461 (GRCm39)	missense	probably damaging	0.98
Z1177:Ltf	UTSW	9	110,850,073 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGTACTGAGCTGACATCATGC -3'
(R):5'- AACCTCTACTCTCTGGGGTG -3'

Sequencing Primer
(F):5'- CTATGCCATCTGCTGGGTAAAGAC -3'
(R):5'- GCTGGGTATGATAGGAGGCTC -3'

Posted On

2021-03-08