Incidental Mutation 'IGL02007:Sec14l2'
| ID |
182251 |
| 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 # |
IGL02007
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4047039-4068729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4061114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 116
(S116P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003681]
|
| AlphaFold |
Q99J08 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003681
AA Change: S116P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585
AA Change: S116P
| 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 |
noncoding transcript
Transcript: ENSMUST00000119801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145173
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
C |
A |
14: 68,870,668 (GRCm39) |
R335L |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,716,862 (GRCm39) |
|
probably benign |
Het |
| Calcrl |
A |
G |
2: 84,205,668 (GRCm39) |
C8R |
probably benign |
Het |
| Cntn4 |
T |
A |
6: 106,632,490 (GRCm39) |
S505T |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,378,758 (GRCm39) |
|
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,928,402 (GRCm39) |
S75P |
probably benign |
Het |
| Fhip1a |
G |
T |
3: 85,629,752 (GRCm39) |
P280T |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,149,593 (GRCm39) |
T198A |
probably benign |
Het |
| H2-T15 |
G |
T |
17: 36,367,222 (GRCm39) |
N333K |
possibly damaging |
Het |
| Heatr5a |
C |
A |
12: 51,962,941 (GRCm39) |
L986F |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,443,948 (GRCm39) |
I90T |
probably benign |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,445 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
G |
A |
6: 90,667,331 (GRCm39) |
P369S |
probably benign |
Het |
| Myh1 |
C |
A |
11: 67,111,382 (GRCm39) |
T1607K |
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,022,838 (GRCm39) |
|
probably benign |
Het |
| Nobox |
A |
G |
6: 43,284,472 (GRCm39) |
L58P |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,962,042 (GRCm39) |
I542N |
possibly damaging |
Het |
| Or4k51 |
A |
G |
2: 111,584,824 (GRCm39) |
T77A |
probably damaging |
Het |
| Or5p54 |
A |
G |
7: 107,553,953 (GRCm39) |
Y35C |
probably damaging |
Het |
| Osm |
C |
T |
11: 4,189,470 (GRCm39) |
R85W |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,707,031 (GRCm39) |
R90G |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,397,129 (GRCm39) |
|
probably benign |
Het |
| Selenbp2 |
A |
C |
3: 94,605,461 (GRCm39) |
N96H |
possibly damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,635,099 (GRCm39) |
S393P |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,414,335 (GRCm39) |
Q103R |
probably damaging |
Het |
| Tmem63c |
T |
C |
12: 87,119,647 (GRCm39) |
Y314H |
probably damaging |
Het |
| Zfp663 |
A |
C |
2: 165,200,993 (GRCm39) |
S14A |
probably benign |
Het |
| Zmynd10 |
A |
G |
9: 107,427,731 (GRCm39) |
N345S |
probably damaging |
Het |
|
| Other mutations in Sec14l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01365:Sec14l2
|
APN |
11 |
4,048,317 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation