Incidental Mutation 'IGL01365:Sec14l2'
ID |
75898 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sec14l2
|
Ensembl Gene |
ENSMUSG00000003585 |
Gene Name |
SEC14-like lipid binding 2 |
Synonyms |
1300013M05Rik, Spf, tap |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
IGL01365
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
4047039-4068729 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 4048317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 400
(D400E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003681]
[ENSMUST00000004868]
|
AlphaFold |
Q99J08 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003681
AA Change: D400E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000003681 Gene: ENSMUSG00000003585 AA Change: D400E
Domain | Start | End | E-Value | Type |
CRAL_TRIO_N
|
34 |
59 |
1.16e-6 |
SMART |
SEC14
|
76 |
246 |
8.31e-62 |
SMART |
Blast:SEC14
|
257 |
338 |
2e-42 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000004868
|
SMART Domains |
Protein: ENSMUSP00000004868 Gene: ENSMUSG00000004748
Domain | Start | End | E-Value | Type |
Pfam:MTP18
|
11 |
149 |
1.2e-22 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132421
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] PHENOTYPE: Mice homozygous for a null allele exhibit decreased cholesterol synthesis and plasma levels under fasting conditions compared to wild-type mice. [provided by MGI curators]
|
Allele List at MGI |
All alleles(5) : Targeted(4) Gene trapped(1)
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
T |
C |
10: 85,469,680 (GRCm39) |
V867A |
possibly damaging |
Het |
Adgre5 |
G |
T |
8: 84,450,518 (GRCm39) |
|
probably null |
Het |
Agtr1a |
A |
G |
13: 30,565,811 (GRCm39) |
Y292C |
probably damaging |
Het |
CK137956 |
A |
G |
4: 127,845,135 (GRCm39) |
S203P |
probably benign |
Het |
Cnbd1 |
C |
T |
4: 18,860,576 (GRCm39) |
G390D |
probably damaging |
Het |
Cttnbp2nl |
T |
C |
3: 104,912,346 (GRCm39) |
T513A |
probably damaging |
Het |
Dppa2 |
A |
G |
16: 48,134,276 (GRCm39) |
K67R |
possibly damaging |
Het |
Kif3a |
A |
G |
11: 53,484,350 (GRCm39) |
K486E |
possibly damaging |
Het |
Lmnb2 |
G |
T |
10: 80,740,818 (GRCm39) |
Q151K |
probably benign |
Het |
Lmtk3 |
T |
A |
7: 45,440,331 (GRCm39) |
L223Q |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,937,449 (GRCm39) |
I901T |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,284,962 (GRCm39) |
Y3624C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,216,089 (GRCm39) |
Y428* |
probably null |
Het |
Myb |
A |
G |
10: 21,028,401 (GRCm39) |
I154T |
probably benign |
Het |
Or14a256 |
T |
C |
7: 86,265,205 (GRCm39) |
Y216C |
probably damaging |
Het |
Parp9 |
C |
T |
16: 35,768,324 (GRCm39) |
T168I |
possibly damaging |
Het |
Pramel7 |
T |
C |
2: 87,321,757 (GRCm39) |
|
probably benign |
Het |
Ptar1 |
T |
A |
19: 23,683,165 (GRCm39) |
W140R |
probably damaging |
Het |
Setd3 |
A |
T |
12: 108,124,165 (GRCm39) |
Y175N |
probably damaging |
Het |
Slc5a8 |
C |
T |
10: 88,727,959 (GRCm39) |
|
probably benign |
Het |
Slc8a3 |
A |
G |
12: 81,362,150 (GRCm39) |
V223A |
probably damaging |
Het |
Srsf1 |
G |
T |
11: 87,940,007 (GRCm39) |
R173L |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,100,878 (GRCm39) |
|
probably null |
Het |
Tead2 |
T |
A |
7: 44,866,675 (GRCm39) |
D11E |
probably damaging |
Het |
Trappc12 |
T |
A |
12: 28,797,401 (GRCm39) |
I44F |
probably damaging |
Het |
Ttll9 |
T |
C |
2: 152,842,054 (GRCm39) |
Y303H |
possibly damaging |
Het |
Vmn1r28 |
T |
A |
6: 58,242,176 (GRCm39) |
N6K |
possibly damaging |
Het |
|
Other mutations in Sec14l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01369:Sec14l2
|
APN |
11 |
4,053,432 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01404:Sec14l2
|
APN |
11 |
4,066,710 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01622:Sec14l2
|
APN |
11 |
4,053,966 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01623:Sec14l2
|
APN |
11 |
4,053,966 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02007:Sec14l2
|
APN |
11 |
4,061,114 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02632:Sec14l2
|
APN |
11 |
4,061,222 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02644:Sec14l2
|
APN |
11 |
4,053,380 (GRCm39) |
splice site |
probably benign |
|
Samoas
|
UTSW |
11 |
4,053,980 (GRCm39) |
missense |
possibly damaging |
0.74 |
P0027:Sec14l2
|
UTSW |
11 |
4,053,673 (GRCm39) |
critical splice donor site |
probably null |
|
PIT1430001:Sec14l2
|
UTSW |
11 |
4,059,209 (GRCm39) |
nonsense |
probably null |
|
R0113:Sec14l2
|
UTSW |
11 |
4,053,661 (GRCm39) |
splice site |
probably benign |
|
R1705:Sec14l2
|
UTSW |
11 |
4,053,980 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2044:Sec14l2
|
UTSW |
11 |
4,061,435 (GRCm39) |
splice site |
probably benign |
|
R2180:Sec14l2
|
UTSW |
11 |
4,058,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R2215:Sec14l2
|
UTSW |
11 |
4,059,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5301:Sec14l2
|
UTSW |
11 |
4,068,727 (GRCm39) |
start gained |
probably benign |
|
R5668:Sec14l2
|
UTSW |
11 |
4,059,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R5949:Sec14l2
|
UTSW |
11 |
4,058,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R6050:Sec14l2
|
UTSW |
11 |
4,061,477 (GRCm39) |
missense |
probably benign |
0.36 |
R6369:Sec14l2
|
UTSW |
11 |
4,053,962 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6467:Sec14l2
|
UTSW |
11 |
4,061,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R6798:Sec14l2
|
UTSW |
11 |
4,061,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7142:Sec14l2
|
UTSW |
11 |
4,048,379 (GRCm39) |
missense |
probably benign |
0.04 |
R7385:Sec14l2
|
UTSW |
11 |
4,066,750 (GRCm39) |
nonsense |
probably null |
|
R7594:Sec14l2
|
UTSW |
11 |
4,061,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7704:Sec14l2
|
UTSW |
11 |
4,058,574 (GRCm39) |
missense |
probably benign |
0.19 |
R8438:Sec14l2
|
UTSW |
11 |
4,059,202 (GRCm39) |
nonsense |
probably null |
|
R9307:Sec14l2
|
UTSW |
11 |
4,068,665 (GRCm39) |
missense |
probably benign |
0.01 |
R9756:Sec14l2
|
UTSW |
11 |
4,053,978 (GRCm39) |
nonsense |
probably null |
|
T0722:Sec14l2
|
UTSW |
11 |
4,053,673 (GRCm39) |
critical splice donor site |
probably null |
|
X0067:Sec14l2
|
UTSW |
11 |
4,066,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |