Incidental Mutation 'R0041:Ltf'
ID 201493
Institutional Source Beutler Lab
Gene Symbol Ltf
Ensembl Gene ENSMUSG00000032496
Gene Name lactotransferrin
Synonyms lactoferrin, Lf
MMRRC Submission 038335-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0041 (G1)
Quality Score 52
Status Validated
Chromosome 9
Chromosomal Location 110848360-110871834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110858636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 461 (D461E)
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: D461E

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: D461E

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 noncoding transcript
Transcript: ENSMUST00000200459
Predicted Effect probably benign
Transcript: ENSMUST00000199815
Predicted Effect probably benign
Transcript: ENSMUST00000199313
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (58/60)
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
Adamts13 A G 2: 26,873,986 (GRCm39) R412G probably damaging Het
Adamts3 T A 5: 89,832,326 (GRCm39) N927Y probably benign Het
Adgra3 A G 5: 50,117,901 (GRCm39) Y1216H probably benign Het
Agpat3 C A 10: 78,123,881 (GRCm39) probably benign Het
AI182371 T A 2: 34,975,733 (GRCm39) Q277L possibly damaging Het
Arhgef15 A T 11: 68,845,342 (GRCm39) L170Q possibly damaging Het
Avpi1 C A 19: 42,112,223 (GRCm39) E112* probably null Het
Braf C T 6: 39,617,413 (GRCm39) A534T probably damaging Het
Bspry G C 4: 62,404,791 (GRCm39) A196P probably damaging Het
Cacna1c T A 6: 118,570,988 (GRCm39) L2095F probably damaging Het
Cdhr2 A T 13: 54,874,651 (GRCm39) S908C probably damaging Het
Cntnap5c C A 17: 58,183,464 (GRCm39) Q57K probably benign Het
Dtna C T 18: 23,779,932 (GRCm39) probably benign Het
Dynap A G 18: 70,375,105 (GRCm39) S37P possibly damaging Het
Efna5 A T 17: 62,914,467 (GRCm39) probably benign Het
Fancm T A 12: 65,153,217 (GRCm39) C1224* probably null Het
Fbxw16 T A 9: 109,277,232 (GRCm39) S37C probably damaging Het
Galnt4 A G 10: 98,944,374 (GRCm39) Y33C probably benign Het
Kcnk2 G T 1: 189,027,888 (GRCm39) N122K probably benign Het
Krt71 C A 15: 101,647,753 (GRCm39) E222D probably damaging Het
Mapk4 A T 18: 74,068,109 (GRCm39) L274Q probably damaging Het
Mbd6 A G 10: 127,122,741 (GRCm39) C103R probably damaging Het
Nbeal1 A G 1: 60,321,030 (GRCm39) N2047S probably benign Het
Nefh C T 11: 4,895,184 (GRCm39) S335N possibly damaging Het
Obscn G T 11: 58,934,803 (GRCm39) H4715N probably damaging Het
Olfml1 A T 7: 107,189,393 (GRCm39) I153L possibly damaging Het
Or6d13 G A 6: 116,518,295 (GRCm39) V294I possibly damaging Het
Or8g34 T A 9: 39,372,772 (GRCm39) F12Y probably benign Het
Pck1 A G 2: 172,997,003 (GRCm39) E215G probably benign Het
Peg12 T A 7: 62,113,308 (GRCm39) E263V unknown Het
Phkg1 T A 5: 129,903,103 (GRCm39) T15S probably benign Het
Plekhg1 T A 10: 3,914,076 (GRCm39) L1120* probably null Het
Prss59 A T 6: 40,903,042 (GRCm39) L110* probably null Het
Rlf T A 4: 121,007,126 (GRCm39) H618L probably damaging Het
Rnf112 T A 11: 61,343,181 (GRCm39) R165W probably damaging Het
Rnf213 A G 11: 119,293,401 (GRCm39) T51A probably benign Het
Rnf220 A G 4: 117,130,481 (GRCm39) L293P probably damaging Het
Rock1 T C 18: 10,140,240 (GRCm39) D117G probably damaging Het
Rp1 A G 1: 4,414,851 (GRCm39) V2087A probably benign Het
Rpl7a A G 2: 26,801,563 (GRCm39) probably null Het
Serpinb6d A G 13: 33,851,615 (GRCm39) D124G probably damaging Het
Skor1 T G 9: 63,053,133 (GRCm39) T279P probably damaging Het
Son A T 16: 91,456,221 (GRCm39) E1656V probably damaging Het
Swap70 A G 7: 109,878,562 (GRCm39) K511E probably benign Het
Treh T C 9: 44,594,910 (GRCm39) V262A probably benign Het
Trpm4 A G 7: 44,954,370 (GRCm39) probably null Het
Ugt8a T C 3: 125,708,739 (GRCm39) I124V probably benign Het
Wdr53 T C 16: 32,075,473 (GRCm39) V226A probably damaging Het
Wdr64 G A 1: 175,554,037 (GRCm39) W189* probably null 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
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
Predicted Primers PCR Primer
(F):5'- GGTCTTCCCTTGACACAGAACACC -3'
(R):5'- GTTCCACAGCCTCAAGTACTCACTC -3'

Sequencing Primer
(F):5'- ccttccttccttccttcctttc -3'
(R):5'- TCACTCCCAGACCCAGGATG -3'
Posted On 2014-06-13