Incidental Mutation 'R2964:Ltf'
ID 255978
Institutional Source Beutler Lab
Gene Symbol Ltf
Ensembl Gene ENSMUSG00000032496
Gene Name lactotransferrin
Synonyms lactoferrin, Lf
MMRRC Submission 040520-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2964 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 110848360-110871834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110857540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 443 (C443F)
Ref Sequence ENSEMBL: ENSMUSP00000035077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035077] [ENSMUST00000196122] [ENSMUST00000196209] [ENSMUST00000198884]
AlphaFold P08071
Predicted Effect possibly damaging
Transcript: ENSMUST00000035077
AA Change: C443F

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: C443F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
TR_FER 4 183 6.4e-23 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 probably benign
Transcript: ENSMUST00000198884
SMART Domains Protein: ENSMUSP00000142432
Gene: ENSMUSG00000032496

DomainStartEndE-ValueType
TR_FER 1 95 4.3e-5 SMART
Predicted Effect unknown
Transcript: ENSMUST00000199313
AA Change: L29F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200459
Predicted Effect probably benign
Transcript: ENSMUST00000199815
Meta Mutation Damage Score 0.3897 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (43/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Acox3 T C 5: 35,762,611 (GRCm39) I495T possibly damaging Het
Acsl3 A G 1: 78,672,011 (GRCm39) S302G probably benign Het
Ap1s1 T C 5: 137,066,357 (GRCm39) D148G probably damaging Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Cdkal1 A G 13: 29,628,018 (GRCm39) S39P unknown Het
Chrna2 T C 14: 66,386,817 (GRCm39) V321A possibly damaging Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Col13a1 G A 10: 61,797,110 (GRCm39) R106W probably damaging Het
Cul9 A G 17: 46,813,154 (GRCm39) V2355A probably damaging Het
Cwh43 T C 5: 73,565,679 (GRCm39) probably benign Het
Dbi C T 1: 120,047,846 (GRCm39) probably benign Het
Dync1h1 G A 12: 110,607,460 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Gsdma2 T C 11: 98,548,085 (GRCm39) S184P probably damaging Het
Gtf2ird1 T C 5: 134,386,538 (GRCm39) probably null Het
H2-T22 A G 17: 36,351,537 (GRCm39) L231S probably damaging Het
Hrh4 T C 18: 13,155,426 (GRCm39) C322R probably benign Het
Ing1 T A 8: 11,611,641 (GRCm39) S26R probably benign Het
Kif3a A T 11: 53,469,757 (GRCm39) I123F probably damaging Het
Lrp6 T C 6: 134,444,489 (GRCm39) E1127G probably damaging Het
Mdc1 A T 17: 36,164,529 (GRCm39) Q1359L possibly damaging Het
Mdga1 A T 17: 30,071,442 (GRCm39) I393N probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Myo3a T C 2: 22,345,067 (GRCm39) V509A possibly damaging Het
Nav2 C T 7: 49,206,780 (GRCm39) T1535I probably damaging Het
Nlrp4d G T 7: 10,112,256 (GRCm39) S626* probably null Het
Nup188 T A 2: 30,215,358 (GRCm39) I732K probably damaging Het
Oprm1 T C 10: 6,738,914 (GRCm39) S14P probably damaging Het
Or1j12 T C 2: 36,342,779 (GRCm39) F61L probably damaging Het
Or1l8 G A 2: 36,817,419 (GRCm39) R236C probably benign Het
Or5b101 C T 19: 13,005,412 (GRCm39) A94T probably benign Het
Pigr G A 1: 130,769,272 (GRCm39) V28M probably damaging Het
Pnpla2 C T 7: 141,038,391 (GRCm39) L215F probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rasal1 T A 5: 120,809,685 (GRCm39) L530Q probably damaging Het
Sdccag8 A T 1: 176,775,937 (GRCm39) K616M possibly damaging Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Trav7d-4 C T 14: 53,007,584 (GRCm39) Q26* probably null Het
Zcchc8 A G 5: 123,858,930 (GRCm39) S22P probably benign 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
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'- CAACATGCATGTGCTACTAGC -3'
(R):5'- AAAGTTCCCCAGCAAGCATGAG -3'

Sequencing Primer
(F):5'- AGTCTCGTGGCTGCATAAC -3'
(R):5'- CATGAGGATGCATTCAGACTTTAG -3'
Posted On 2014-12-29