Incidental Mutation 'R3005:Lcn6'
| ID |
257406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcn6
|
| Ensembl Gene |
ENSMUSG00000045684 |
| Gene Name |
lipocalin 6 |
| Synonyms |
9230101D24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R3005 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25566798-25571620 bp(+) (GRCm39) |
| Type of Mutation |
splice site (28 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 25567261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059693]
[ENSMUST00000114197]
[ENSMUST00000114199]
|
| AlphaFold |
A2AJB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059693
|
| SMART Domains |
Protein: ENSMUSP00000055660
Gene: ENSMUSG00000045684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
7 |
106 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114197
|
| SMART Domains |
Protein: ENSMUSP00000109835
Gene: ENSMUSG00000045684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
7 |
106 |
4.8e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114199
|
| SMART Domains |
Protein: ENSMUSP00000109837
Gene: ENSMUSG00000045684
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
33 |
172 |
2.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139441
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice with loss of expression in the testes show premature acrosome reaction and elevated intracellular calcium levels in sperm. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cep162 |
C |
A |
9: 87,114,113 (GRCm39) |
V320L |
probably benign |
Het |
| Cnga1 |
T |
A |
5: 72,762,450 (GRCm39) |
I355F |
probably damaging |
Het |
| Csnk1e |
T |
C |
15: 79,323,005 (GRCm39) |
I15V |
probably benign |
Het |
| Dele1 |
T |
A |
18: 38,393,012 (GRCm39) |
N405K |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,639,568 (GRCm39) |
|
probably null |
Het |
| Garre1 |
T |
C |
7: 33,984,209 (GRCm39) |
E138G |
probably damaging |
Het |
| Gstm3 |
G |
T |
3: 107,874,923 (GRCm39) |
Q110K |
probably benign |
Het |
| Hace1 |
G |
A |
10: 45,524,959 (GRCm39) |
G242R |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,295,713 (GRCm39) |
E1088G |
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,068,524 (GRCm39) |
V142M |
probably benign |
Het |
| Nup50 |
G |
A |
15: 84,813,661 (GRCm39) |
|
probably null |
Het |
| Or51g2 |
C |
T |
7: 102,622,465 (GRCm39) |
V245I |
possibly damaging |
Het |
| Ppp2r5a |
A |
T |
1: 191,091,173 (GRCm39) |
F218Y |
probably damaging |
Het |
| Ptov1 |
T |
C |
7: 44,513,886 (GRCm39) |
N52S |
probably damaging |
Het |
| Rif1 |
G |
A |
2: 51,972,776 (GRCm39) |
A303T |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,961 (GRCm39) |
V778E |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,570,978 (GRCm39) |
L258H |
probably damaging |
Het |
| Utp20 |
C |
A |
10: 88,613,317 (GRCm39) |
K1321N |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,221 (GRCm39) |
Q787L |
probably benign |
Het |
|
| Other mutations in Lcn6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Lcn6
|
APN |
2 |
25,570,792 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0747:Lcn6
|
UTSW |
2 |
25,567,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Lcn6
|
UTSW |
2 |
25,567,149 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1500:Lcn6
|
UTSW |
2 |
25,567,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1654:Lcn6
|
UTSW |
2 |
25,570,787 (GRCm39) |
splice site |
probably null |
|
|
R4821:Lcn6
|
UTSW |
2 |
25,570,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Lcn6
|
UTSW |
2 |
25,570,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Lcn6
|
UTSW |
2 |
25,567,082 (GRCm39) |
splice site |
probably null |
|
|
R5013:Lcn6
|
UTSW |
2 |
25,567,082 (GRCm39) |
splice site |
probably null |
|
|
R7779:Lcn6
|
UTSW |
2 |
25,570,805 (GRCm39) |
missense |
probably benign |
|
|
R8034:Lcn6
|
UTSW |
2 |
25,566,883 (GRCm39) |
nonsense |
probably null |
|
|
R8558:Lcn6
|
UTSW |
2 |
25,570,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8697:Lcn6
|
UTSW |
2 |
25,567,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9227:Lcn6
|
UTSW |
2 |
25,570,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Lcn6
|
UTSW |
2 |
25,570,074 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9740:Lcn6
|
UTSW |
2 |
25,571,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9749:Lcn6
|
UTSW |
2 |
25,570,034 (GRCm39) |
start codon destroyed |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAGGTGTCTTAGCTGATGC -3'
(R):5'- ATCCGGTAAGAGGAAGTGCC -3'
Sequencing Primer
(F):5'- GATGCTTCCTCTAGCTCCTCGG -3'
(R):5'- ATACCACTCTCTCTAGGGAGTCAGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation