Incidental Mutation 'R3122:Ltf'
| ID |
264115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltf
|
| Ensembl Gene |
ENSMUSG00000032496 |
| Gene Name |
lactotransferrin |
| Synonyms |
lactoferrin, Lf |
| MMRRC Submission |
040595-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3122 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110848360-110871834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110851968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 135
(C135Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035077]
[ENSMUST00000196122]
[ENSMUST00000196209]
[ENSMUST00000196777]
[ENSMUST00000198884]
|
| AlphaFold |
P08071 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035077
AA Change: C188Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035077
Gene: ENSMUSG00000032496
AA Change: C188Y
| 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 damaging
Transcript: ENSMUST00000196122
AA Change: C135Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143234
Gene: ENSMUSG00000032496
AA Change: C135Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000200459
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199313
|
| Meta Mutation Damage Score |
0.8586 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,118,248 (GRCm39) |
N8S |
possibly damaging |
Het |
| Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
| Capn7 |
A |
T |
14: 31,081,167 (GRCm39) |
I395F |
probably damaging |
Het |
| Ccbe1 |
A |
G |
18: 66,199,900 (GRCm39) |
M274T |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,456,749 (GRCm39) |
|
probably benign |
Het |
| Ccdc85a |
C |
A |
11: 28,533,499 (GRCm39) |
C15F |
unknown |
Het |
| Cpt1c |
A |
G |
7: 44,609,345 (GRCm39) |
Y715H |
probably damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,620 (GRCm39) |
F423L |
probably damaging |
Het |
| Dock3 |
C |
G |
9: 106,788,542 (GRCm39) |
A1598P |
probably damaging |
Het |
| Ext2 |
A |
G |
2: 93,644,170 (GRCm39) |
L37P |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,045,562 (GRCm39) |
D758G |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,396,776 (GRCm39) |
T236A |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,194 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,803,361 (GRCm39) |
M277K |
probably damaging |
Het |
| H2-T23 |
T |
A |
17: 36,341,855 (GRCm39) |
M248L |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,000,265 (GRCm39) |
F329S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 46,918,072 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,899,425 (GRCm39) |
H375Q |
probably benign |
Het |
| Lox |
A |
G |
18: 52,658,177 (GRCm39) |
F332S |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,554 (GRCm39) |
Y347H |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,422,031 (GRCm39) |
Y387H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip1 |
T |
C |
13: 100,545,503 (GRCm39) |
T1342A |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,453,031 (GRCm39) |
D10G |
probably benign |
Het |
| Nudt8 |
A |
G |
19: 4,052,015 (GRCm39) |
R209G |
possibly damaging |
Het |
| Or4c31 |
G |
T |
2: 88,291,853 (GRCm39) |
M75I |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,385 (GRCm39) |
V154A |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,954 (GRCm39) |
Y73N |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,213,049 (GRCm39) |
S131T |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 177,973,411 (GRCm39) |
I475V |
probably damaging |
Het |
| Pip |
T |
A |
6: 41,828,819 (GRCm39) |
N121K |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,109,384 (GRCm39) |
R222G |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,349,152 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,087,845 (GRCm39) |
V1745I |
possibly damaging |
Het |
| Tnfsf15 |
T |
A |
4: 63,652,522 (GRCm39) |
E96D |
probably benign |
Het |
| Vmn1r217 |
A |
G |
13: 23,298,249 (GRCm39) |
S218P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r71 |
T |
G |
7: 85,264,828 (GRCm39) |
Y53* |
probably null |
Het |
| Wapl |
A |
G |
14: 34,451,172 (GRCm39) |
I729M |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,986,744 (GRCm39) |
D175G |
probably benign |
Het |
| Zscan2 |
G |
A |
7: 80,513,092 (GRCm39) |
A26T |
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 |
|
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'- AAGATGCACGTCTGAGTTCCG -3'
(R):5'- TGCACATCAGTAGGACCAAATC -3'
Sequencing Primer
(F):5'- TGAGTTCCGAAGCCCACTCAG -3'
(R):5'- GTAGGACCAAATCTCCATCCCG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation