Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Ltf'

214107

Institutional Source

Beutler Lab

Gene Symbol

Ltf

Ensembl Gene

ENSMUSG00000032496

Gene Name

lactotransferrin

Synonyms

Lf, lactoferrin

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111019271-111042767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111022845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 117 (F117L)

Ref Sequence

ENSEMBL: ENSMUSP00000143234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035077] [ENSMUST00000196122] [ENSMUST00000196209] [ENSMUST00000196777] [ENSMUST00000198884]

AlphaFold

P08071

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035077
AA Change: F170L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: F170L

Domain	Start	End	E-Value	Type
TR_FER	24	362	1.48e-209	SMART
TR_FER	363	696	4.68e-212	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196122
AA Change: F117L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143234
Gene: ENSMUSG00000032496
AA Change: F117L

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

noncoding transcript
Transcript: ENSMUST00000197893

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200459

Meta Mutation Damage Score

0.5977

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297		probably benign	Het
Atg2a	C	A	19: 6,245,067	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642	D167G	possibly damaging	Het
Calr4	T	G	4: 109,246,293		probably null	Het
Camsap3	G	T	8: 3,603,922	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780		probably benign	Het
Chst14	A	G	2: 118,927,015	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,675,813	M748V	probably benign	Het
Col7a1	A	G	9: 108,978,888	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033	R274*	probably null	Het
Dexi	A	G	16: 10,542,518	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050		probably benign	Het
Dusp10	A	T	1: 184,069,180	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842		probably benign	Het
Fam83f	A	T	15: 80,692,080	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532	S167*	probably null	Het
Glg1	T	G	8: 111,165,674	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,520,455		probably benign	Het
Larp1b	T	A	3: 40,964,084	D53E	probably benign	Het
Maml1	A	G	11: 50,266,130	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831	Y111C	probably damaging	Het
Mto1	T	C	9: 78,461,517		probably benign	Het
Nalcn	A	T	14: 123,316,126	M972K	possibly damaging	Het
Nemf	T	C	12: 69,346,378	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866		probably benign	Het
Nlrp5	A	G	7: 23,404,797	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Piezo1	T	C	8: 122,489,566	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070		probably benign	Het
Ryr2	A	T	13: 11,591,336	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema4f	A	G	6: 82,918,029	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337		probably null	Het
Sik2	A	T	9: 50,995,674		probably benign	Het
Smtn	G	T	11: 3,531,326	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580		probably benign	Het
Tacc2	T	G	7: 130,624,202	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,633		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tlx3	T	C	11: 33,203,072	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216		probably null	Het
Trak2	A	T	1: 58,946,336	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460		probably null	Het
Uso1	T	A	5: 92,201,192	S819T	probably benign	Het
Yes1	A	T	5: 32,645,051	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037	Q288L	probably benign	Het

Other mutations in Ltf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Ltf	APN	9	111022882	splice site	probably null
IGL01068:Ltf	APN	9	111035812	splice site	probably null
IGL01311:Ltf	APN	9	111031012	unclassified	probably benign
IGL01629:Ltf	APN	9	111035806	missense	probably damaging	1.00
IGL01765:Ltf	APN	9	111022017	missense	possibly damaging	0.86
IGL02376:Ltf	APN	9	111029624	missense	probably benign	0.01
IGL02429:Ltf	APN	9	111026125	missense	possibly damaging	0.87
IGL02947:Ltf	APN	9	111038947	missense	probably benign	0.01
IGL03025:Ltf	APN	9	111025101	missense	possibly damaging	0.93
R0041:Ltf	UTSW	9	111029568	missense	possibly damaging	0.92
R0364:Ltf	UTSW	9	111025167	missense	probably benign	0.19
R0718:Ltf	UTSW	9	111040379	missense	probably benign	0.01
R1900:Ltf	UTSW	9	111022845	missense	possibly damaging	0.84
R2964:Ltf	UTSW	9	111028472	missense	possibly damaging	0.81
R2965:Ltf	UTSW	9	111028472	missense	possibly damaging	0.81
R2966:Ltf	UTSW	9	111028472	missense	possibly damaging	0.81
R3051:Ltf	UTSW	9	111024522	missense	probably benign	0.00
R3122:Ltf	UTSW	9	111022900	missense	probably damaging	1.00
R4427:Ltf	UTSW	9	111023604	missense	probably damaging	1.00
R4597:Ltf	UTSW	9	111022933	missense	probably damaging	1.00
R4604:Ltf	UTSW	9	111022341	missense	probably damaging	0.99
R4827:Ltf	UTSW	9	111027377	unclassified	probably benign
R4849:Ltf	UTSW	9	111025990	missense	probably benign	0.00
R5389:Ltf	UTSW	9	111029651	missense	possibly damaging	0.50
R5677:Ltf	UTSW	9	111020912	start codon destroyed	probably null	0.01
R6419:Ltf	UTSW	9	111031022	missense	possibly damaging	0.67
R6891:Ltf	UTSW	9	111025113	missense	probably benign	0.13
R7032:Ltf	UTSW	9	111026130	critical splice donor site	probably null
R7090:Ltf	UTSW	9	111025980	missense	probably benign	0.00
R7352:Ltf	UTSW	9	111028450	missense	probably benign
R7656:Ltf	UTSW	9	111024394	nonsense	probably null
R7857:Ltf	UTSW	9	111022376	missense	probably benign	0.00
R8751:Ltf	UTSW	9	111031124	nonsense	probably null
R8798:Ltf	UTSW	9	111023760	unclassified	probably benign
R8802:Ltf	UTSW	9	111020950	missense	probably benign	0.00
R9158:Ltf	UTSW	9	111038935	missense	probably damaging	1.00
R9450:Ltf	UTSW	9	111021996	missense	probably damaging	1.00
R9772:Ltf	UTSW	9	111040357	missense	unknown
Z1177:Ltf	UTSW	9	111021005	missense	probably benign	0.01
Z1177:Ltf	UTSW	9	111024393	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCACGTCTGAGTTCCGAAG -3'
(R):5'- TGCACATCAGTAGGACCAAATC -3'

Sequencing Primer
(F):5'- TGAGTTCCGAAGCCCACTCAG -3'
(R):5'- TGAAGCTGTGCGACCATG -3'

Posted On

2014-07-14