Incidental Mutation 'IGL02956:Sec14l1'
| ID |
365110 |
| 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 # |
IGL02956
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
117005994-117050094 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 117043973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 494
(D494N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021177]
[ENSMUST00000090433]
[ENSMUST00000103026]
|
| AlphaFold |
A8Y5H7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021177
AA Change: D494N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823
AA Change: D494N
| 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
AA Change: D494N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823
AA Change: D494N
| 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
AA Change: D494N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823
AA Change: D494N
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
C |
T |
2: 26,873,049 (GRCm39) |
A339V |
probably benign |
Het |
| Adck2 |
T |
C |
6: 39,553,436 (GRCm39) |
V349A |
probably benign |
Het |
| Akna |
G |
T |
4: 63,304,516 (GRCm39) |
T546K |
probably benign |
Het |
| Albfm1 |
A |
G |
5: 90,727,497 (GRCm39) |
I372V |
possibly damaging |
Het |
| Ankrd29 |
T |
C |
18: 12,393,993 (GRCm39) |
K274E |
probably damaging |
Het |
| Apc2 |
A |
T |
10: 80,142,209 (GRCm39) |
N376I |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,418,047 (GRCm38) |
|
probably benign |
Het |
| Cbl |
T |
C |
9: 44,080,331 (GRCm39) |
T243A |
probably damaging |
Het |
| Cep15 |
A |
G |
14: 12,287,326 (GRCm38) |
N29S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,901 (GRCm39) |
E56G |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,464,413 (GRCm39) |
P1561Q |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,602,472 (GRCm39) |
S657P |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,690,149 (GRCm39) |
F732L |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,740,082 (GRCm39) |
D199G |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,650,841 (GRCm39) |
|
probably benign |
Het |
| Fbxl15 |
G |
T |
19: 46,317,690 (GRCm39) |
C124F |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,979,712 (GRCm39) |
S474G |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,368,350 (GRCm39) |
E252G |
probably damaging |
Het |
| Gm6625 |
A |
T |
8: 89,873,667 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl1 |
T |
C |
17: 36,298,504 (GRCm39) |
I416T |
probably benign |
Het |
| Gp1bb |
C |
A |
16: 18,439,675 (GRCm39) |
A140S |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,148,785 (GRCm39) |
V271A |
possibly damaging |
Het |
| Heatr1 |
T |
A |
13: 12,430,940 (GRCm39) |
S1012T |
possibly damaging |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,523 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,562,429 (GRCm39) |
E737G |
possibly damaging |
Het |
| Lmod2 |
A |
C |
6: 24,603,631 (GRCm39) |
N202T |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,380,428 (GRCm39) |
V3908I |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,633 (GRCm39) |
V15A |
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,959,263 (GRCm39) |
D77E |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,474,823 (GRCm39) |
E1787V |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,467,874 (GRCm39) |
M804K |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 124,675,822 (GRCm39) |
S32G |
probably benign |
Het |
| Or13c7d |
T |
A |
4: 43,770,399 (GRCm39) |
N204I |
probably benign |
Het |
| Or52h1 |
T |
C |
7: 103,829,334 (GRCm39) |
I94V |
probably damaging |
Het |
| Or7d10 |
T |
C |
9: 19,832,348 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or8b8 |
A |
G |
9: 37,809,404 (GRCm39) |
K235E |
probably damaging |
Het |
| Polr2m |
T |
C |
9: 71,390,911 (GRCm39) |
D97G |
possibly damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,054,100 (GRCm39) |
|
probably benign |
Het |
| Rex1bd |
C |
A |
8: 70,958,552 (GRCm39) |
V72F |
possibly damaging |
Het |
| Rgp1 |
A |
G |
4: 43,581,505 (GRCm39) |
T261A |
possibly damaging |
Het |
| Satb2 |
A |
G |
1: 56,987,334 (GRCm39) |
F84L |
probably damaging |
Het |
| Spn |
G |
A |
7: 126,736,432 (GRCm39) |
T25M |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,148,920 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,324,967 (GRCm39) |
T620A |
unknown |
Het |
| Zfp276 |
T |
C |
8: 123,981,483 (GRCm39) |
L10P |
probably damaging |
Het |
| Zfp93 |
T |
A |
7: 23,974,400 (GRCm39) |
N128K |
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 |
|
|
IGL02053:Sec14l1
|
APN |
11 |
117,047,738 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation