Incidental Mutation 'IGL01369:Sec14l2'
| ID |
76049 |
| 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 # |
IGL01369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4047039-4068729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4053432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 346
(M346T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003681]
|
| AlphaFold |
Q99J08 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003681
AA Change: M346T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585
AA Change: M346T
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
T |
C |
4: 144,401,215 (GRCm39) |
T90A |
possibly damaging |
Het |
| Abi2 |
A |
G |
1: 60,476,215 (GRCm39) |
T96A |
probably damaging |
Het |
| Adam34 |
T |
A |
8: 44,104,094 (GRCm39) |
K517M |
probably benign |
Het |
| Atm |
A |
T |
9: 53,426,617 (GRCm39) |
I547N |
probably benign |
Het |
| Cadm4 |
A |
T |
7: 24,198,947 (GRCm39) |
D74V |
possibly damaging |
Het |
| Caprin1 |
G |
A |
2: 103,599,210 (GRCm39) |
P46S |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,112,358 (GRCm39) |
Y112* |
probably null |
Het |
| Ccdc180 |
T |
C |
4: 45,900,256 (GRCm39) |
V246A |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,975,259 (GRCm39) |
E1103V |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,384,933 (GRCm39) |
P428L |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,443,843 (GRCm39) |
I979F |
probably benign |
Het |
| Col2a1 |
A |
G |
15: 97,875,707 (GRCm39) |
S1193P |
unknown |
Het |
| Fga |
A |
T |
3: 82,937,507 (GRCm39) |
Y128F |
probably benign |
Het |
| Glyr1 |
A |
T |
16: 4,838,152 (GRCm39) |
D365E |
probably benign |
Het |
| Gmppb |
G |
A |
9: 107,928,446 (GRCm39) |
|
probably null |
Het |
| Gmps |
A |
T |
3: 63,909,013 (GRCm39) |
H505L |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,464 (GRCm39) |
N172S |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,803,030 (GRCm39) |
E65G |
probably null |
Het |
| Hsd17b4 |
T |
C |
18: 50,305,100 (GRCm39) |
S446P |
possibly damaging |
Het |
| Kirrel3 |
C |
T |
9: 34,927,737 (GRCm39) |
T382I |
probably benign |
Het |
| Klra7 |
A |
T |
6: 130,203,498 (GRCm39) |
Y169* |
probably null |
Het |
| Lmbrd1 |
T |
C |
1: 24,745,055 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,416,897 (GRCm39) |
E211G |
possibly damaging |
Het |
| Maf1 |
T |
A |
15: 76,236,892 (GRCm39) |
F44I |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,984 (GRCm39) |
S84P |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,139 (GRCm39) |
E211G |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,909,040 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,392,946 (GRCm39) |
C3205F |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,773 (GRCm39) |
V155M |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,258,459 (GRCm39) |
N247S |
probably benign |
Het |
| Nek11 |
A |
G |
9: 105,177,259 (GRCm39) |
|
probably null |
Het |
| Nt5dc3 |
T |
A |
10: 86,656,139 (GRCm39) |
|
probably benign |
Het |
| Nudcd3 |
A |
G |
11: 6,100,551 (GRCm39) |
Y134H |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,789,719 (GRCm39) |
|
probably null |
Het |
| Or5b99 |
A |
T |
19: 12,977,125 (GRCm39) |
L258F |
possibly damaging |
Het |
| Orm2 |
T |
C |
4: 63,281,215 (GRCm39) |
V51A |
probably benign |
Het |
| P2ry14 |
T |
C |
3: 59,022,756 (GRCm39) |
I244V |
probably damaging |
Het |
| Poll |
A |
G |
19: 45,542,115 (GRCm39) |
V397A |
probably damaging |
Het |
| Ppdpf |
C |
A |
2: 180,829,687 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,659,495 (GRCm39) |
E1249G |
probably benign |
Het |
| Rdh16f1 |
C |
A |
10: 127,595,844 (GRCm39) |
T13K |
probably benign |
Het |
| Rrp1 |
G |
A |
10: 78,240,905 (GRCm39) |
|
probably benign |
Het |
| Sh2d2a |
A |
T |
3: 87,759,136 (GRCm39) |
Q246L |
probably benign |
Het |
| Slc44a1 |
G |
A |
4: 53,491,448 (GRCm39) |
D62N |
probably damaging |
Het |
| Snx22 |
A |
G |
9: 65,976,060 (GRCm39) |
Y58H |
probably damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,852,548 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,599,779 (GRCm39) |
D19104V |
probably damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,474,979 (GRCm39) |
S422G |
probably damaging |
Het |
| Zfyve19 |
G |
T |
2: 119,041,094 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
Incidental Mutation