Incidental Mutation 'IGL02053:Sec14l1'
ID |
185154 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sec14l1
|
Ensembl Gene |
ENSMUSG00000020823 |
Gene Name |
SEC14-like lipid binding 1 |
Synonyms |
2810012L19Rik, 1200017E04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02053
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
117005994-117050094 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 117047738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021177]
[ENSMUST00000090433]
[ENSMUST00000103026]
|
AlphaFold |
A8Y5H7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021177
|
SMART Domains |
Protein: ENSMUSP00000021177 Gene: ENSMUSG00000020823
Domain | Start | End | E-Value | Type |
Pfam:PRELI
|
17 |
173 |
5.3e-57 |
PFAM |
CRAL_TRIO_N
|
276 |
301 |
4.83e-4 |
SMART |
SEC14
|
319 |
492 |
5.13e-53 |
SMART |
low complexity region
|
695 |
711 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090433
|
SMART Domains |
Protein: ENSMUSP00000087916 Gene: ENSMUSG00000020823
Domain | Start | End | E-Value | Type |
Pfam:PRELI
|
17 |
173 |
7.9e-57 |
PFAM |
CRAL_TRIO_N
|
276 |
301 |
4.83e-4 |
SMART |
SEC14
|
319 |
492 |
5.13e-53 |
SMART |
low complexity region
|
695 |
711 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103026
|
SMART Domains |
Protein: ENSMUSP00000099315 Gene: ENSMUSG00000020823
Domain | Start | End | E-Value | Type |
Pfam:PRELI
|
17 |
173 |
5.4e-57 |
PFAM |
CRAL_TRIO_N
|
276 |
301 |
4.83e-4 |
SMART |
SEC14
|
319 |
492 |
5.13e-53 |
SMART |
low complexity region
|
695 |
715 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153437
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
T |
C |
17: 43,761,058 (GRCm39) |
S918P |
possibly damaging |
Het |
AY358078 |
G |
T |
14: 52,043,009 (GRCm39) |
E232D |
unknown |
Het |
Baz1b |
C |
A |
5: 135,271,320 (GRCm39) |
P1301Q |
probably benign |
Het |
Btn2a2 |
T |
C |
13: 23,662,990 (GRCm39) |
D311G |
probably damaging |
Het |
Cept1 |
A |
T |
3: 106,440,712 (GRCm39) |
L149Q |
probably damaging |
Het |
Clec2m |
T |
C |
6: 129,303,725 (GRCm39) |
Q80R |
probably benign |
Het |
Col6a4 |
T |
A |
9: 105,940,294 (GRCm39) |
D1212V |
possibly damaging |
Het |
Cyp2j8 |
T |
C |
4: 96,358,891 (GRCm39) |
I343V |
probably damaging |
Het |
Dapk2 |
A |
G |
9: 66,128,027 (GRCm39) |
I102V |
probably benign |
Het |
Dntt |
A |
G |
19: 41,034,713 (GRCm39) |
T321A |
probably benign |
Het |
Entrep2 |
C |
T |
7: 64,469,590 (GRCm39) |
G53R |
probably damaging |
Het |
Ezh1 |
T |
C |
11: 101,090,769 (GRCm39) |
|
probably benign |
Het |
Fbxw5 |
T |
C |
2: 25,393,453 (GRCm39) |
V18A |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 92,030,225 (GRCm39) |
C1109S |
probably benign |
Het |
Ms4a6c |
A |
G |
19: 11,455,586 (GRCm39) |
I132V |
probably benign |
Het |
Ncoa3 |
T |
C |
2: 165,896,754 (GRCm39) |
L515P |
probably damaging |
Het |
Nfic |
A |
G |
10: 81,256,385 (GRCm39) |
V115A |
probably damaging |
Het |
P4ha2 |
A |
G |
11: 54,008,413 (GRCm39) |
T207A |
probably benign |
Het |
Pde10a |
G |
T |
17: 9,193,601 (GRCm39) |
V732L |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,883,779 (GRCm39) |
L626Q |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,200,230 (GRCm39) |
N270D |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,272,144 (GRCm39) |
S977P |
probably benign |
Het |
Ptprm |
A |
G |
17: 67,000,836 (GRCm39) |
L1073P |
probably damaging |
Het |
Rai14 |
A |
C |
15: 10,633,242 (GRCm39) |
H49Q |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,038,816 (GRCm39) |
I394F |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,550,413 (GRCm39) |
I151V |
probably benign |
Het |
Tet2 |
T |
A |
3: 133,194,284 (GRCm39) |
N50I |
possibly damaging |
Het |
Tubal3 |
A |
C |
13: 3,983,159 (GRCm39) |
D313A |
probably damaging |
Het |
Usp45 |
A |
G |
4: 21,824,553 (GRCm39) |
N483S |
probably benign |
Het |
|
Other mutations in Sec14l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00922:Sec14l1
|
APN |
11 |
117,044,055 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01559:Sec14l1
|
APN |
11 |
117,034,110 (GRCm39) |
splice site |
probably null |
|
IGL02355:Sec14l1
|
APN |
11 |
117,035,675 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02362:Sec14l1
|
APN |
11 |
117,035,675 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02956:Sec14l1
|
APN |
11 |
117,043,973 (GRCm39) |
missense |
probably benign |
|
PIT1430001:Sec14l1
|
UTSW |
11 |
117,034,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Sec14l1
|
UTSW |
11 |
117,034,596 (GRCm39) |
splice site |
probably benign |
|
R0130:Sec14l1
|
UTSW |
11 |
117,047,233 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0241:Sec14l1
|
UTSW |
11 |
117,037,924 (GRCm39) |
splice site |
probably benign |
|
R0321:Sec14l1
|
UTSW |
11 |
117,041,568 (GRCm39) |
splice site |
probably benign |
|
R0377:Sec14l1
|
UTSW |
11 |
117,039,966 (GRCm39) |
splice site |
probably benign |
|
R1600:Sec14l1
|
UTSW |
11 |
117,041,430 (GRCm39) |
missense |
probably benign |
0.34 |
R2120:Sec14l1
|
UTSW |
11 |
117,039,358 (GRCm39) |
splice site |
probably benign |
|
R2163:Sec14l1
|
UTSW |
11 |
117,034,108 (GRCm39) |
splice site |
probably null |
|
R2266:Sec14l1
|
UTSW |
11 |
117,047,314 (GRCm39) |
missense |
probably damaging |
0.98 |
R4059:Sec14l1
|
UTSW |
11 |
117,040,024 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6501:Sec14l1
|
UTSW |
11 |
117,047,676 (GRCm39) |
missense |
probably damaging |
0.97 |
R6900:Sec14l1
|
UTSW |
11 |
117,008,049 (GRCm39) |
missense |
probably damaging |
0.98 |
R6989:Sec14l1
|
UTSW |
11 |
117,047,220 (GRCm39) |
missense |
probably damaging |
0.99 |
R8307:Sec14l1
|
UTSW |
11 |
117,034,242 (GRCm39) |
critical splice donor site |
probably null |
|
R9258:Sec14l1
|
UTSW |
11 |
117,041,002 (GRCm39) |
missense |
probably benign |
0.25 |
R9598:Sec14l1
|
UTSW |
11 |
117,044,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R9670:Sec14l1
|
UTSW |
11 |
117,046,058 (GRCm39) |
missense |
possibly damaging |
0.55 |
X0066:Sec14l1
|
UTSW |
11 |
117,034,769 (GRCm39) |
missense |
probably benign |
|
X0067:Sec14l1
|
UTSW |
11 |
117,007,994 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2014-05-07 |