Incidental Mutation 'R2331:Lcn11'
ID |
245860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lcn11
|
Ensembl Gene |
ENSMUSG00000069080 |
Gene Name |
lipocalin 11 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R2331 (G1)
|
Quality Score |
188 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25667029-25670291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 25670188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 177
(T177K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091278]
[ENSMUST00000211245]
|
AlphaFold |
A2BHR2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091278
AA Change: T177K
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000088822 Gene: ENSMUSG00000069080 AA Change: T177K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Lipocalin
|
34 |
172 |
7.5e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153913
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211245
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
C |
T |
1: 38,243,971 (GRCm39) |
|
probably null |
Het |
Cadps |
A |
G |
14: 12,603,692 (GRCm38) |
I376T |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Gm10295 |
A |
C |
7: 71,000,437 (GRCm39) |
S48A |
unknown |
Het |
Gstcd |
A |
G |
3: 132,704,641 (GRCm39) |
C538R |
probably damaging |
Het |
Hcn3 |
A |
T |
3: 89,055,397 (GRCm39) |
S617T |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,458,089 (GRCm39) |
I752V |
probably benign |
Het |
Itgb7 |
G |
T |
15: 102,131,983 (GRCm39) |
T200K |
probably damaging |
Het |
Lsm14a |
A |
G |
7: 34,056,915 (GRCm39) |
V241A |
probably benign |
Het |
Magi1 |
T |
C |
6: 93,662,543 (GRCm39) |
K1075E |
probably damaging |
Het |
Or4c111 |
T |
C |
2: 88,844,265 (GRCm39) |
I48V |
probably benign |
Het |
Or4d10c |
C |
A |
19: 12,065,522 (GRCm39) |
L211F |
probably benign |
Het |
P4hb |
T |
C |
11: 120,459,106 (GRCm39) |
N129S |
probably benign |
Het |
Piezo1 |
C |
T |
8: 123,214,005 (GRCm39) |
|
probably null |
Het |
Ppp3ca |
T |
C |
3: 136,503,580 (GRCm39) |
M51T |
probably benign |
Het |
Sema6d |
T |
C |
2: 124,499,983 (GRCm39) |
V353A |
probably damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Sh3rf2 |
T |
C |
18: 42,186,928 (GRCm39) |
F16L |
probably benign |
Het |
Sparcl1 |
A |
G |
5: 104,233,660 (GRCm39) |
L563P |
probably damaging |
Het |
Stra6l |
T |
C |
4: 45,858,224 (GRCm39) |
|
probably null |
Het |
Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
Trpv5 |
A |
G |
6: 41,636,902 (GRCm39) |
S399P |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,264,011 (GRCm39) |
F1006L |
possibly damaging |
Het |
Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
Wdr72 |
A |
G |
9: 74,055,608 (GRCm39) |
Y279C |
probably damaging |
Het |
|
Other mutations in Lcn11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02904:Lcn11
|
APN |
2 |
25,669,278 (GRCm39) |
missense |
probably null |
0.00 |
R0220:Lcn11
|
UTSW |
2 |
25,667,843 (GRCm39) |
missense |
probably benign |
0.02 |
R0607:Lcn11
|
UTSW |
2 |
25,669,305 (GRCm39) |
missense |
probably benign |
0.00 |
R1104:Lcn11
|
UTSW |
2 |
25,669,115 (GRCm39) |
unclassified |
probably benign |
|
R2021:Lcn11
|
UTSW |
2 |
25,668,097 (GRCm39) |
missense |
probably benign |
0.34 |
R4295:Lcn11
|
UTSW |
2 |
25,668,111 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6109:Lcn11
|
UTSW |
2 |
25,669,308 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6356:Lcn11
|
UTSW |
2 |
25,668,132 (GRCm39) |
nonsense |
probably null |
|
R6502:Lcn11
|
UTSW |
2 |
25,669,103 (GRCm39) |
missense |
probably benign |
0.08 |
R7754:Lcn11
|
UTSW |
2 |
25,667,830 (GRCm39) |
missense |
probably benign |
0.06 |
R7920:Lcn11
|
UTSW |
2 |
25,669,343 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8389:Lcn11
|
UTSW |
2 |
25,669,043 (GRCm39) |
missense |
probably damaging |
0.97 |
R8752:Lcn11
|
UTSW |
2 |
25,668,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R8765:Lcn11
|
UTSW |
2 |
25,668,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R8881:Lcn11
|
UTSW |
2 |
25,669,296 (GRCm39) |
missense |
probably benign |
0.33 |
R8954:Lcn11
|
UTSW |
2 |
25,669,265 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Lcn11
|
UTSW |
2 |
25,667,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCAAACTTGGTTTATCTCATTGC -3'
(R):5'- TCAGAAGCTAGGTGAGTGCC -3'
Sequencing Primer
(F):5'- CCTGGGTGTGGAAGGCCTAG -3'
(R):5'- GTGAGTGCCACCCCTCC -3'
|
Posted On |
2014-10-30 |