Incidental Mutation 'IGL02362:Sec14l1'
| ID |
290534 |
| 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 # |
IGL02362
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
117005994-117050094 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117035675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 237
(D237G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021177]
[ENSMUST00000090433]
[ENSMUST00000103026]
|
| AlphaFold |
A8Y5H7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021177
AA Change: D237G
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823
AA Change: D237G
| 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 |
possibly damaging
Transcript: ENSMUST00000090433
AA Change: D237G
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823
AA Change: D237G
| 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 |
possibly damaging
Transcript: ENSMUST00000103026
AA Change: D237G
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823
AA Change: D237G
| 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
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
C |
A |
8: 25,187,207 (GRCm39) |
C428F |
probably damaging |
Het |
| Alas1 |
T |
C |
9: 106,113,838 (GRCm39) |
Y469C |
probably damaging |
Het |
| Asxl1 |
C |
T |
2: 153,243,706 (GRCm39) |
L1419F |
probably benign |
Het |
| Bcan |
C |
T |
3: 87,901,449 (GRCm39) |
D418N |
possibly damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,839 (GRCm39) |
D199G |
possibly damaging |
Het |
| Chst15 |
T |
C |
7: 131,868,401 (GRCm39) |
N340D |
probably benign |
Het |
| Col12a1 |
T |
G |
9: 79,537,993 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,631,849 (GRCm39) |
H116L |
probably benign |
Het |
| Cyp2c67 |
G |
A |
19: 39,605,826 (GRCm39) |
R357* |
probably null |
Het |
| Ears2 |
T |
C |
7: 121,643,773 (GRCm39) |
D395G |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,528,139 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
G |
2: 62,403,842 (GRCm39) |
V11A |
probably benign |
Het |
| Ganc |
A |
G |
2: 120,264,238 (GRCm39) |
D397G |
probably damaging |
Het |
| Gjb6 |
C |
A |
14: 57,361,752 (GRCm39) |
G170C |
possibly damaging |
Het |
| Gria2 |
A |
T |
3: 80,614,244 (GRCm39) |
W599R |
probably damaging |
Het |
| Gvin-ps5 |
T |
C |
7: 105,929,480 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,236 (GRCm39) |
S94P |
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,836,507 (GRCm39) |
A85T |
probably damaging |
Het |
| Lifr |
G |
A |
15: 7,194,174 (GRCm39) |
|
probably null |
Het |
| Lonp2 |
T |
G |
8: 87,350,874 (GRCm39) |
S21R |
probably benign |
Het |
| Nxpe3 |
A |
G |
16: 55,710,949 (GRCm39) |
V30A |
probably benign |
Het |
| Olfml1 |
T |
C |
7: 107,167,010 (GRCm39) |
V13A |
probably benign |
Het |
| Or10w1 |
T |
C |
19: 13,632,597 (GRCm39) |
V268A |
probably benign |
Het |
| Or1af1 |
A |
G |
2: 37,109,681 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,210,996 (GRCm39) |
Q2376* |
probably null |
Het |
| Pglyrp2 |
A |
G |
17: 32,635,996 (GRCm39) |
L380P |
probably damaging |
Het |
| Plin3 |
A |
G |
17: 56,593,636 (GRCm39) |
V26A |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,041,996 (GRCm39) |
|
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,519,580 (GRCm39) |
S114G |
probably damaging |
Het |
| Rims1 |
A |
G |
1: 22,522,288 (GRCm39) |
I470T |
probably damaging |
Het |
| Rora |
T |
C |
9: 69,281,374 (GRCm39) |
Y329H |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,516,770 (GRCm39) |
R503H |
probably damaging |
Het |
| Selplg |
A |
G |
5: 113,957,467 (GRCm39) |
S280P |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,140 (GRCm39) |
L164P |
probably benign |
Het |
| Sik2 |
C |
T |
9: 50,828,903 (GRCm39) |
W176* |
probably null |
Het |
| Slc2a1 |
T |
C |
4: 118,993,612 (GRCm39) |
F483S |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,400,559 (GRCm39) |
D2573G |
possibly damaging |
Het |
| Stil |
C |
T |
4: 114,867,308 (GRCm39) |
S239L |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,685,571 (GRCm39) |
S941R |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,115,778 (GRCm39) |
D273V |
probably damaging |
Het |
| Tns2 |
A |
G |
15: 102,020,725 (GRCm39) |
T864A |
probably benign |
Het |
| Zfpm2 |
A |
G |
15: 40,962,890 (GRCm39) |
H184R |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation