Incidental Mutation 'IGL02947:Ltf'
ID 364794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ltf
Ensembl Gene ENSMUSG00000032496
Gene Name lactotransferrin
Synonyms lactoferrin, Lf
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02947
Quality Score
Status
Chromosome 9
Chromosomal Location 110848360-110871834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 110868015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 48 (T48I)
Ref Sequence ENSEMBL: ENSMUSP00000142691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035077] [ENSMUST00000196209] [ENSMUST00000197575] [ENSMUST00000198884]
AlphaFold P08071
Predicted Effect probably benign
Transcript: ENSMUST00000035077
AA Change: T619I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: T619I

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 probably benign
Transcript: ENSMUST00000197575
AA Change: T48I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142691
Gene: ENSMUSG00000032496
AA Change: T48I

DomainStartEndE-ValueType
TR_FER 1 122 1.1e-10 SMART
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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,049,957 (GRCm39) V13A probably benign Het
Atp8b5 T A 4: 43,305,774 (GRCm39) I106K possibly damaging Het
Cdh15 T C 8: 123,592,111 (GRCm39) S633P probably benign Het
Celsr3 A G 9: 108,723,134 (GRCm39) T228A probably benign Het
Cfap90 T A 13: 68,759,312 (GRCm39) F95L probably benign Het
Chrng A G 1: 87,137,606 (GRCm39) probably null Het
Coprs T C 8: 13,935,782 (GRCm39) E79G probably damaging Het
Cpb2 A C 14: 75,520,758 (GRCm39) Y391S probably damaging Het
Cyp2j8 A T 4: 96,358,815 (GRCm39) I368N probably damaging Het
Ddah1 T C 3: 145,464,842 (GRCm39) F76L probably benign Het
Eif2ak4 A G 2: 118,261,514 (GRCm39) T573A probably benign Het
Exoc6b T A 6: 84,835,411 (GRCm39) M375L probably benign Het
Fasn T C 11: 120,706,502 (GRCm39) E994G probably damaging Het
Fem1a T A 17: 56,565,640 (GRCm39) C578S probably benign Het
Garnl3 A G 2: 32,936,606 (GRCm39) S188P probably damaging Het
Gpn3 T C 5: 122,516,551 (GRCm39) V60A possibly damaging Het
Hnrnpr A G 4: 136,043,690 (GRCm39) D59G probably damaging Het
Hydin A T 8: 111,145,094 (GRCm39) E815V probably damaging Het
Itga9 C T 9: 118,487,601 (GRCm39) T228M probably damaging Het
Kpna7 T C 5: 144,930,884 (GRCm39) I320M probably damaging Het
Lnpep T C 17: 17,791,234 (GRCm39) T437A probably damaging Het
Masp1 T G 16: 23,313,476 (GRCm39) D153A probably damaging Het
Mcpt9 T A 14: 56,264,373 (GRCm39) R241* probably null Het
Msantd4 T A 9: 4,384,787 (GRCm39) S171T probably damaging Het
Nos1 G A 5: 118,081,382 (GRCm39) V1229M probably damaging Het
Npc1l1 A G 11: 6,179,246 (GRCm39) S55P probably benign Het
Oc90 T C 15: 65,759,983 (GRCm39) K212R probably benign Het
Or2a12 A G 6: 42,904,830 (GRCm39) I222V probably benign Het
Or5t15 C T 2: 86,681,130 (GRCm39) R304K probably benign Het
Or6c202 C A 10: 128,996,439 (GRCm39) C138F probably damaging Het
Prr12 T A 7: 44,697,980 (GRCm39) Q645L unknown Het
Psmd9 A G 5: 123,384,278 (GRCm39) I145V probably benign Het
Rbks T C 5: 31,817,407 (GRCm39) I121V probably benign Het
Rnase2b A T 14: 51,400,264 (GRCm39) Y115F probably damaging Het
Sarnp A G 10: 128,675,723 (GRCm39) E78G probably benign Het
Sltm A G 9: 70,498,946 (GRCm39) S1007G probably benign Het
Spata31d1c T A 13: 65,182,759 (GRCm39) Y100* probably null Het
Srrm2 T C 17: 24,029,720 (GRCm39) S222P probably benign Het
Sult3a1 G A 10: 33,740,046 (GRCm39) R35Q possibly damaging Het
Tfap4 T C 16: 4,369,224 (GRCm39) D132G probably damaging Het
Tmem53 C T 4: 117,125,285 (GRCm39) Q111* probably null Het
Togaram1 T A 12: 65,068,274 (GRCm39) V1709D probably damaging Het
Trpm3 A T 19: 22,878,483 (GRCm39) D628V probably damaging Het
Ttn T A 2: 76,544,838 (GRCm39) K31009* probably null Het
Vldlr A G 19: 27,217,120 (GRCm39) I58V probably benign Het
Vmn1r4 T C 6: 56,934,231 (GRCm39) F245S probably benign Het
Vrtn T A 12: 84,695,258 (GRCm39) S3T probably damaging Het
Vwa7 A G 17: 35,242,476 (GRCm39) probably null Het
Wrnip1 T A 13: 33,006,053 (GRCm39) Y632N probably 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
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
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
Posted On 2015-12-18