Incidental Mutation 'R6419:Ltf'
ID 518012
Institutional Source Beutler Lab
Gene Symbol Ltf
Ensembl Gene ENSMUSG00000032496
Gene Name lactotransferrin
Synonyms lactoferrin, Lf
MMRRC Submission 044561-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6419 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 110848360-110871834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110860090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 504 (F504L)
Ref Sequence ENSEMBL: ENSMUSP00000035077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035077] [ENSMUST00000196209] [ENSMUST00000198884]
AlphaFold P08071
Predicted Effect possibly damaging
Transcript: ENSMUST00000035077
AA Change: F504L

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: F504L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Transferrin 13 78 3.5e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197893
Predicted Effect probably benign
Transcript: ENSMUST00000198152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198233
Predicted Effect probably benign
Transcript: ENSMUST00000198884
SMART Domains Protein: ENSMUSP00000142432
Gene: ENSMUSG00000032496

DomainStartEndE-ValueType
TR_FER 1 95 4.3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199313
Predicted Effect probably benign
Transcript: ENSMUST00000199815
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 96% (67/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T C 4: 42,812,473 (GRCm39) probably benign Het
Abcc2 T A 19: 43,825,947 (GRCm39) probably null Het
Adamts12 C T 15: 11,215,759 (GRCm39) T260M possibly damaging Het
Adamts20 C T 15: 94,231,556 (GRCm39) V878I possibly damaging Het
Adgrl4 A G 3: 151,144,953 (GRCm39) E34G probably damaging Het
Asah1 A T 8: 41,796,803 (GRCm39) I293N probably damaging Het
Atosa G A 9: 74,916,619 (GRCm39) S413N probably benign Het
B3galt2 A T 1: 143,522,839 (GRCm39) E325V possibly damaging Het
Baz1b T A 5: 135,271,348 (GRCm39) H1310Q probably benign Het
Ccdc125 T A 13: 100,826,834 (GRCm39) N204K probably damaging Het
Cd36 C T 5: 18,002,150 (GRCm39) D284N probably benign Het
Cdh12 T C 15: 21,520,483 (GRCm39) L316S probably damaging Het
Cenpv T C 11: 62,416,008 (GRCm39) K247R probably benign Het
Cldn18 T C 9: 99,574,801 (GRCm39) H257R possibly damaging Het
Cnot8 T A 11: 58,004,891 (GRCm39) Y197N probably damaging Het
Cog3 A T 14: 75,962,178 (GRCm39) C554* probably null Het
Col4a4 A G 1: 82,444,207 (GRCm39) probably null Het
Cops5 G A 1: 10,103,532 (GRCm39) T158I probably damaging Het
Dhh A G 15: 98,792,282 (GRCm39) F242S probably damaging Het
Dot1l T C 10: 80,627,315 (GRCm39) V1512A possibly damaging Het
Dstn T G 2: 143,781,907 (GRCm39) I116S possibly damaging Het
Egfem1 G A 3: 29,711,398 (GRCm39) D326N probably damaging Het
Enpp3 A T 10: 24,684,089 (GRCm39) Y52N probably damaging Het
Gabra2 A G 5: 71,119,426 (GRCm39) S359P probably benign Het
Gbp7 G A 3: 142,252,214 (GRCm39) G599E probably benign Het
Gcat T G 15: 78,920,264 (GRCm39) I198S probably damaging Het
Gm8439 A G 4: 120,466,755 (GRCm39) K82R unknown Het
Grin2b A G 6: 135,717,965 (GRCm39) F709S probably damaging Het
Grm3 T C 5: 9,620,201 (GRCm39) N348D probably damaging Het
Hdgfl1 G A 13: 26,954,075 (GRCm39) probably benign Het
Hmgxb3 G T 18: 61,285,296 (GRCm39) D564E possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Impg1 A G 9: 80,287,300 (GRCm39) V305A probably benign Het
Ints7 T A 1: 191,334,414 (GRCm39) S313T possibly damaging Het
Knl1 T A 2: 118,899,484 (GRCm39) I395K probably benign Het
Lactb2 A T 1: 13,708,459 (GRCm39) Y196* probably null Het
Lad1 T C 1: 135,759,630 (GRCm39) S509P possibly damaging Het
Med4 A T 14: 73,751,363 (GRCm39) D104V probably damaging Het
Mrpl58 A T 11: 115,301,073 (GRCm39) N128Y probably damaging Het
Ndufs2 T C 1: 171,068,668 (GRCm39) T54A probably benign Het
Notch2 G T 3: 98,007,705 (GRCm39) probably null Het
Ntng1 A T 3: 109,690,169 (GRCm39) N424K possibly damaging Het
Ntrk2 G A 13: 59,009,113 (GRCm39) W301* probably null Het
Or5b116 T A 19: 13,423,131 (GRCm39) S252T probably benign Het
Otud6b A G 4: 14,822,766 (GRCm39) S113P possibly damaging Het
Pcdhb20 A G 18: 37,638,608 (GRCm39) N378S probably damaging Het
Polr3b T C 10: 84,473,975 (GRCm39) S185P possibly damaging Het
Ptprn G A 1: 75,240,681 (GRCm39) R31C probably benign Het
Rgsl1 C T 1: 153,698,117 (GRCm39) V478M probably damaging Het
Sema6b A T 17: 56,439,784 (GRCm39) L19* probably null Het
Slfn8 A G 11: 82,894,881 (GRCm39) probably null Het
Spen A T 4: 141,203,621 (GRCm39) S1669T unknown Het
Syne2 T C 12: 76,143,740 (GRCm39) F1522L probably damaging Het
Tarbp1 C T 8: 127,185,783 (GRCm39) A470T possibly damaging Het
Tent4a A C 13: 69,658,785 (GRCm39) M350R possibly damaging Het
Tiam1 C A 16: 89,694,912 (GRCm39) E182* probably null Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trip12 C T 1: 84,771,591 (GRCm39) A186T probably damaging Het
Ufc1 C T 1: 171,116,529 (GRCm39) A147T probably damaging Het
Vmn1r199 A G 13: 22,567,777 (GRCm39) K314R possibly damaging Het
Vmn2r13 A T 5: 109,323,085 (GRCm39) I68K possibly damaging Het
Vmn2r77 A T 7: 86,460,767 (GRCm39) I698F probably damaging Het
Vmn2r86 T C 10: 130,282,795 (GRCm39) K607R probably damaging Het
Vwa3b T C 1: 37,196,457 (GRCm39) V28A probably benign Het
Wdr19 A G 5: 65,373,236 (GRCm39) N166S possibly damaging Het
Wfdc17 G A 11: 83,595,634 (GRCm39) G33R probably damaging Het
Zfp330 T G 8: 83,491,545 (GRCm39) K209N probably benign Het
Zfp493 A G 13: 67,934,526 (GRCm39) T160A probably benign Het
Zfp974 A T 7: 27,610,940 (GRCm39) C262S possibly damaging Het
Other mutations in Ltf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCCTTTCTGATTGCCAGTGG -3'
(R):5'- TTCTATGAGAGCACCCCACC -3'

Sequencing Primer
(F):5'- CTGATTGCCAGTGGGTCTTTG -3'
(R):5'- CAACTACAGTGCCGCTTGTTGAG -3'
Posted On 2018-05-24