Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Ltf'

30240

Institutional Source

Beutler Lab

Gene Symbol

Ltf

Ensembl Gene

ENSMUSG00000032496

Gene Name

lactotransferrin

Synonyms

lactoferrin, Lf

MMRRC Submission

038570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110848360-110871834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110854235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 350 (N350I)

Ref Sequence

ENSEMBL: ENSMUSP00000035077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035077] [ENSMUST00000196122] [ENSMUST00000196209] [ENSMUST00000196777] [ENSMUST00000198884]

AlphaFold

P08071

Predicted Effect

probably benign
Transcript: ENSMUST00000035077
AA Change: N350I

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: N350I

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: ENSMUST00000196122

SMART Domains

Protein: ENSMUSP00000143234
Gene: ENSMUSG00000032496

Domain	Start	End	E-Value	Type
TR_FER	4	183	6.4e-23	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: ENSMUST00000196777

SMART Domains

Protein: ENSMUSP00000143629
Gene: ENSMUSG00000032496

Domain	Start	End	E-Value	Type
TR_FER	1	121	2.3e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197893

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

noncoding transcript
Transcript: ENSMUST00000200459

Predicted Effect

probably benign
Transcript: ENSMUST00000199313

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cfap52	A	C	11: 67,844,436 (GRCm39)	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,221,097 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Fyb1	A	G	15: 6,610,272 (GRCm39)	K282E	probably damaging	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hpx	G	T	7: 105,245,471 (GRCm39)	Q101K	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itga9	A	G	9: 118,670,210 (GRCm39)	T177A	probably benign	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Kiz	T	G	2: 146,784,076 (GRCm39)	S536R	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	probably benign	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
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
R8751:Ltf	UTSW	9	110,860,192 (GRCm39)	nonsense	probably null
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'- GAATTGTCCCCAGATCCCAAGTAGC -3'
(R):5'- ACAGCCCATTGTAATCTCTTCAGCC -3'

Sequencing Primer
(F):5'- GTAGCTGTTTCCCACACTGG -3'
(R):5'- AAGCATTAGTCCAGCGTCTG -3'

Posted On

2013-04-24