Incidental Mutation 'R9740:Lcn6'
| ID |
731781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcn6
|
| Ensembl Gene |
ENSMUSG00000045684 |
| Gene Name |
lipocalin 6 |
| Synonyms |
9230101D24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R9740 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25566798-25571620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25571191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 110
(T110S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058912]
[ENSMUST00000059693]
[ENSMUST00000114197]
[ENSMUST00000114199]
|
| AlphaFold |
A2AJB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058912
|
| SMART Domains |
Protein: ENSMUSP00000059353
Gene: ENSMUSG00000047356
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
36 |
169 |
1.6e-8 |
PFAM |
|
| 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
AA Change: T110S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109835
Gene: ENSMUSG00000045684
AA Change: T110S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
7 |
106 |
4.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
T |
G |
11: 5,821,721 (GRCm39) |
Y1087D |
probably benign |
Het |
| Bdh1 |
A |
G |
16: 31,256,853 (GRCm39) |
M37V |
possibly damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cemip2 |
A |
T |
19: 21,822,105 (GRCm39) |
M1167L |
probably benign |
Het |
| Clec1b |
C |
T |
6: 129,380,549 (GRCm39) |
S155L |
probably benign |
Het |
| Crym |
A |
T |
7: 119,794,661 (GRCm39) |
V186D |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Det1 |
A |
T |
7: 78,494,001 (GRCm39) |
M1K |
probably null |
Het |
| Fam110b |
A |
G |
4: 5,799,070 (GRCm39) |
K163E |
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,789 (GRCm39) |
V482E |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,899,868 (GRCm39) |
|
probably null |
Het |
| Herc1 |
A |
G |
9: 66,355,796 (GRCm39) |
E2349G |
probably damaging |
Het |
| Kdsr |
A |
G |
1: 106,667,126 (GRCm39) |
Y210H |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,266,177 (GRCm39) |
H6807R |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,366,853 (GRCm39) |
Y2636C |
probably damaging |
Het |
| Myh2 |
T |
G |
11: 67,080,052 (GRCm39) |
I1115S |
probably damaging |
Het |
| Npepl1 |
C |
A |
2: 173,963,283 (GRCm39) |
N438K |
probably damaging |
Het |
| Nrros |
G |
A |
16: 31,963,667 (GRCm39) |
H117Y |
possibly damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,895 (GRCm39) |
S171P |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,947,102 (GRCm39) |
T782A |
probably benign |
Het |
| Pla2g4d |
T |
G |
2: 120,107,952 (GRCm39) |
Q319P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,096,294 (GRCm39) |
D266E |
probably benign |
Het |
| Slitrk6 |
A |
C |
14: 110,987,430 (GRCm39) |
L759W |
probably damaging |
Het |
| Slitrk6 |
T |
G |
14: 110,987,444 (GRCm39) |
L754F |
probably benign |
Het |
| Sox5 |
A |
T |
6: 144,100,947 (GRCm39) |
M14K |
probably damaging |
Het |
| Ssmem1 |
T |
A |
6: 30,512,454 (GRCm39) |
D32E |
possibly damaging |
Het |
| St18 |
A |
T |
1: 6,873,287 (GRCm39) |
R341* |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,587,288 (GRCm39) |
S4P |
probably damaging |
Het |
| Suz12 |
G |
T |
11: 79,889,920 (GRCm39) |
E144* |
probably null |
Het |
| Tex52 |
A |
G |
6: 128,356,673 (GRCm39) |
N122S |
possibly damaging |
Het |
| Tril |
A |
G |
6: 53,795,104 (GRCm39) |
L706P |
possibly damaging |
Het |
| Trim65 |
T |
C |
11: 116,021,434 (GRCm39) |
D133G |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,736,496 (GRCm39) |
I1166F |
probably damaging |
Het |
| Zfp709 |
C |
T |
8: 72,643,134 (GRCm39) |
R188C |
probably damaging |
Het |
| Zfp974 |
A |
G |
7: 27,610,025 (GRCm39) |
C567R |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,657,250 (GRCm39) |
D842G |
possibly damaging |
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 |
|
|
R3005:Lcn6
|
UTSW |
2 |
25,567,261 (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 |
|
R9749:Lcn6
|
UTSW |
2 |
25,570,034 (GRCm39) |
start codon destroyed |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGCAGCTATTCACCAAATGG -3'
(R):5'- CACAGGCTTTGAAGATGGTCC -3'
Sequencing Primer
(F):5'- GGCTTCTTGTCTCAACAGCAGG -3'
(R):5'- TGGTCCACCCAGAGCCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation