Mutagenetix > Incidental Mutation

Incidental Mutation 'R6891:Ltf'

537223

Institutional Source

Beutler Lab

Gene Symbol

Ltf

Ensembl Gene

ENSMUSG00000032496

Gene Name

lactotransferrin

Synonyms

lactoferrin, Lf

MMRRC Submission

044985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6891 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110848360-110871834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110854181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 332 (V332A)

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: V332A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: V332A

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

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

probably benign
Transcript: ENSMUST00000199313

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	C	T	9: 107,806,346 (GRCm39)	A223V	probably benign	Het
Agbl5	G	T	5: 31,052,522 (GRCm39)	R61L	probably damaging	Het
Agmat	A	T	4: 141,483,192 (GRCm39)	T209S	probably benign	Het
Ankrd34a	G	A	3: 96,505,335 (GRCm39)	V180I	probably benign	Het
Anks1	C	T	17: 28,276,398 (GRCm39)	T1047M	probably damaging	Het
Arhgap21	T	A	2: 20,855,142 (GRCm39)	I1407F	probably damaging	Het
Armc1	C	A	3: 19,189,205 (GRCm39)	C183F	probably damaging	Het
Atg13	A	G	2: 91,516,136 (GRCm39)	M196T	probably benign	Het
AU040320	G	T	4: 126,740,231 (GRCm39)	S864I	possibly damaging	Het
Btn2a2	T	C	13: 23,667,014 (GRCm39)	D197G	probably benign	Het
Carmil1	A	G	13: 24,325,706 (GRCm39)	I208T	probably benign	Het
Cbs	T	A	17: 31,841,431 (GRCm39)	R263S	probably damaging	Het
Ccdc7a	C	A	8: 129,753,119 (GRCm39)	R204L	probably damaging	Het
Cdhr1	A	T	14: 36,819,334 (GRCm39)		probably null	Het
Cers4	G	A	8: 4,573,731 (GRCm39)	R378Q	probably damaging	Het
Chst1	T	G	2: 92,444,088 (GRCm39)	L187V	probably benign	Het
Clec4e	A	T	6: 123,260,565 (GRCm39)	N164K	probably damaging	Het
Cln3	T	A	7: 126,181,975 (GRCm39)	D29V	possibly damaging	Het
Crybg2	A	G	4: 133,809,148 (GRCm39)	S187G	probably benign	Het
Ddx1	A	T	12: 13,286,096 (GRCm39)	N285K	probably benign	Het
Dmxl2	A	G	9: 54,387,664 (GRCm39)	I58T	probably damaging	Het
Dock4	A	G	12: 40,829,135 (GRCm39)	Y1007C	probably damaging	Het
Eral1	C	T	11: 77,966,559 (GRCm39)	V234I	possibly damaging	Het
Fads2b	C	A	2: 85,319,149 (GRCm39)	M384I	possibly damaging	Het
Fads2b	T	G	2: 85,319,157 (GRCm39)	T382P	probably damaging	Het
Fam161b	A	G	12: 84,401,554 (GRCm39)	F400S	probably damaging	Het
Fmnl3	T	C	15: 99,223,754 (GRCm39)	D314G	probably damaging	Het
Foxred2	A	T	15: 77,839,909 (GRCm39)	L127Q	probably damaging	Het
Gjd2	G	A	2: 113,843,575 (GRCm39)	A14V	possibly damaging	Het
Gon4l	A	G	3: 88,766,173 (GRCm39)		probably null	Het
Gpr151	T	A	18: 42,711,985 (GRCm39)	D231V	probably benign	Het
Gzf1	A	T	2: 148,526,689 (GRCm39)	K387*	probably null	Het
Hfm1	T	A	5: 107,065,240 (GRCm39)	K146N	possibly damaging	Het
Hgf	G	A	5: 16,809,920 (GRCm39)		probably null	Het
Isoc2b	A	G	7: 4,854,487 (GRCm39)	S15P	probably damaging	Het
Itga5	A	G	15: 103,265,970 (GRCm39)	S126P	probably damaging	Het
Kat6b	A	G	14: 21,719,104 (GRCm39)	D1152G	probably benign	Het
Kcna4	C	T	2: 107,126,652 (GRCm39)	S462F	probably damaging	Het
Kif24	A	T	4: 41,394,168 (GRCm39)	C902S	probably benign	Het
Lama2	A	T	10: 27,204,068 (GRCm39)	C523*	probably null	Het
Lama2	G	C	10: 27,204,078 (GRCm39)	S520*	probably null	Het
Mapkap1	T	C	2: 34,453,153 (GRCm39)	F349L	probably damaging	Het
Mdm1	A	G	10: 117,983,937 (GRCm39)	N188D	probably benign	Het
Mfn1	T	C	3: 32,631,252 (GRCm39)	S730P	possibly damaging	Het
Mrgprd	T	A	7: 144,876,087 (GRCm39)	D319E	probably benign	Het
Mrps9	C	A	1: 42,944,573 (GRCm39)	L364I	probably damaging	Het
Myo1h	C	T	5: 114,487,673 (GRCm39)	R626C	probably damaging	Het
Nme3	T	C	17: 25,115,829 (GRCm39)	S61P	probably benign	Het
Or2g1	A	G	17: 38,106,395 (GRCm39)	Q20R	probably benign	Het
Or52e18	A	G	7: 104,609,192 (GRCm39)	I249T	probably damaging	Het
Pald1	A	G	10: 61,184,311 (GRCm39)		probably null	Het
Papola	A	T	12: 105,775,950 (GRCm39)		probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Plch1	T	C	3: 63,605,504 (GRCm39)	T1458A	probably benign	Het
Polr3e	A	G	7: 120,543,873 (GRCm39)	Q659R	probably damaging	Het
Pramel38	C	A	5: 94,365,978 (GRCm39)	P32Q	probably damaging	Het
Shoc2	T	C	19: 53,976,548 (GRCm39)	V146A	probably benign	Het
Slc15a1	T	C	14: 121,713,442 (GRCm39)	T362A	probably benign	Het
Smpd3	A	G	8: 106,991,300 (GRCm39)	Y418H	probably damaging	Het
Sorcs1	A	T	19: 50,213,557 (GRCm39)	C723*	probably null	Het
Supt7l	T	A	5: 31,680,365 (GRCm39)	N16Y	probably damaging	Het
Syngr2	T	C	11: 117,703,499 (GRCm39)	V105A	probably damaging	Het
Thrb	T	A	14: 17,981,899 (GRCm38)	V8E	probably benign	Het
Tlx1	A	T	19: 45,139,757 (GRCm39)	I135F	probably damaging	Het
Tnfaip3	A	G	10: 18,887,417 (GRCm39)	I36T	probably damaging	Het
Troap	A	G	15: 98,980,569 (GRCm39)	Y583C	possibly damaging	Het
Usp17lb	T	C	7: 104,490,307 (GRCm39)	K207E	probably benign	Het
Vmn2r10	C	T	5: 109,149,845 (GRCm39)	V400M	probably damaging	Het
Wdr49	A	T	3: 75,240,590 (GRCm39)		probably null	Het
Wdr64	G	T	1: 175,533,634 (GRCm39)	W90L	probably damaging	Het
Yme1l1	A	G	2: 23,085,401 (GRCm39)	E662G	probably damaging	Het
Zfp334	C	T	2: 165,224,644 (GRCm39)	V68I	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
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
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'- AGATCCCAAGTAGCTGTTTCCC -3'
(R):5'- ATGGCCTTGACTTACTTGACAC -3'

Sequencing Primer
(F):5'- AAGTAGCTGTTTCCCACACTGG -3'
(R):5'- CCTTGACTTACTTGACACACAGTATG -3'

Posted On

2018-10-18