Incidental Mutation 'IGL02644:Sec14l2'
| ID |
301889 |
| 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: 0.180)
|
| Stock # |
IGL02644
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4047039-4068729 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 4053380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003681]
|
| AlphaFold |
Q99J08 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003681
|
| SMART Domains |
Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585
| 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
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
T |
3: 151,198,007 (GRCm39) |
Y89F |
probably benign |
Het |
| Agl |
A |
G |
3: 116,580,246 (GRCm39) |
Y406H |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,711,828 (GRCm39) |
|
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,776 (GRCm39) |
D511G |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,266,589 (GRCm39) |
Y546H |
probably damaging |
Het |
| Asap1 |
G |
T |
15: 63,982,911 (GRCm39) |
P806T |
probably damaging |
Het |
| Aspa |
T |
A |
11: 73,212,992 (GRCm39) |
T117S |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bspry |
A |
T |
4: 62,414,565 (GRCm39) |
H386L |
probably damaging |
Het |
| C1qc |
T |
C |
4: 136,617,629 (GRCm39) |
T156A |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,708,905 (GRCm39) |
M1T |
probably null |
Het |
| Copz2 |
A |
T |
11: 96,744,257 (GRCm39) |
|
probably benign |
Het |
| Cybb |
A |
G |
X: 9,333,395 (GRCm39) |
V23A |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,058,730 (GRCm39) |
D390V |
possibly damaging |
Het |
| Dennd10 |
T |
A |
19: 60,810,741 (GRCm39) |
S43T |
possibly damaging |
Het |
| Dpy19l2 |
G |
T |
9: 24,569,888 (GRCm39) |
P355Q |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,713,250 (GRCm39) |
Q71L |
probably benign |
Het |
| Gpd1l |
T |
C |
9: 114,732,725 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,265,100 (GRCm39) |
D2761G |
probably damaging |
Het |
| Ifi202b |
T |
A |
1: 173,799,280 (GRCm39) |
H256L |
probably benign |
Het |
| Igkv8-24 |
T |
C |
6: 70,193,872 (GRCm39) |
Y112C |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,658,910 (GRCm39) |
R2022Q |
probably benign |
Het |
| Mroh4 |
T |
A |
15: 74,482,224 (GRCm39) |
R675S |
possibly damaging |
Het |
| Mtf1 |
T |
G |
4: 124,714,028 (GRCm39) |
C146G |
probably damaging |
Het |
| Nubpl |
A |
G |
12: 52,317,841 (GRCm39) |
D178G |
probably damaging |
Het |
| Or7e165 |
A |
C |
9: 19,695,010 (GRCm39) |
I194L |
probably benign |
Het |
| Pam16 |
A |
G |
16: 4,434,697 (GRCm39) |
S91P |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,232 (GRCm39) |
E404G |
probably benign |
Het |
| Pde7a |
C |
A |
3: 19,311,031 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,303,043 (GRCm39) |
G529V |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,923,938 (GRCm39) |
Y722C |
probably damaging |
Het |
| Ppm1m |
A |
T |
9: 106,074,082 (GRCm39) |
I241N |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,311,834 (GRCm39) |
Y282C |
probably damaging |
Het |
| Rpl27 |
T |
A |
11: 101,336,317 (GRCm39) |
|
probably benign |
Het |
| Scaf1 |
A |
G |
7: 44,655,357 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
T |
A |
17: 71,667,016 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
T |
12: 76,652,391 (GRCm39) |
D1615E |
probably damaging |
Het |
| Stt3a |
A |
C |
9: 36,663,649 (GRCm39) |
C198G |
possibly damaging |
Het |
| Tas2r144 |
T |
C |
6: 42,192,787 (GRCm39) |
S176P |
possibly damaging |
Het |
| Tlr13 |
A |
G |
X: 105,200,503 (GRCm39) |
D80G |
probably benign |
Het |
| Tmco4 |
A |
G |
4: 138,737,920 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,109 (GRCm39) |
C132S |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,698,733 (GRCm39) |
D406G |
probably damaging |
Het |
| Vmn2r125 |
G |
A |
4: 156,703,294 (GRCm39) |
R224Q |
probably benign |
Het |
| Zfp524 |
C |
A |
7: 5,020,479 (GRCm39) |
D2E |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation