Incidental Mutation 'IGL00922:Sec14l1'
| ID |
28521 |
| 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 # |
IGL00922
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
117005994-117050094 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 117044055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 521
(T521M)
|
| 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: T521M
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823
AA Change: T521M
| 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: T521M
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823
AA Change: T521M
| 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: T521M
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823
AA Change: T521M
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
T |
C |
5: 115,085,236 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,789,398 (GRCm39) |
M1518K |
probably damaging |
Het |
| Baiap2l1 |
C |
T |
5: 144,255,777 (GRCm39) |
G59D |
probably damaging |
Het |
| BC051019 |
C |
A |
7: 109,319,883 (GRCm39) |
C60F |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,892,111 (GRCm39) |
Y135C |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,824,163 (GRCm39) |
S535T |
probably benign |
Het |
| Chkb |
C |
T |
15: 89,306,491 (GRCm39) |
|
probably null |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,866 (GRCm39) |
D605V |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,761,875 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,010,509 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,281,866 (GRCm39) |
V4E |
probably damaging |
Het |
| Dnajc22 |
T |
G |
15: 98,999,460 (GRCm39) |
L215R |
possibly damaging |
Het |
| Drc7 |
G |
A |
8: 95,804,606 (GRCm39) |
V874I |
probably benign |
Het |
| Foxa2 |
A |
C |
2: 147,886,738 (GRCm39) |
S26A |
possibly damaging |
Het |
| Gal |
A |
T |
19: 3,461,575 (GRCm39) |
V70E |
probably benign |
Het |
| Gjb4 |
T |
C |
4: 127,245,146 (GRCm39) |
Y265C |
probably benign |
Het |
| Hc |
A |
G |
2: 34,881,680 (GRCm39) |
S1423P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kash5 |
T |
C |
7: 44,834,730 (GRCm39) |
E532G |
possibly damaging |
Het |
| Map3k6 |
C |
T |
4: 132,970,355 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
T |
4: 130,680,285 (GRCm39) |
Q454L |
probably benign |
Het |
| Mlxip |
A |
T |
5: 123,578,128 (GRCm39) |
N148I |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,498,546 (GRCm39) |
Y881H |
probably damaging |
Het |
| Nphp4 |
C |
T |
4: 152,621,766 (GRCm39) |
|
probably benign |
Het |
| Or6c3b |
T |
G |
10: 129,527,323 (GRCm39) |
I196L |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,735,954 (GRCm39) |
V2151D |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,432,941 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
A |
C |
3: 159,320,179 (GRCm39) |
D277A |
probably damaging |
Het |
| Slc25a30 |
A |
T |
14: 76,007,038 (GRCm39) |
Y153N |
probably damaging |
Het |
| Slc6a12 |
C |
T |
6: 121,337,414 (GRCm39) |
A366V |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,038,963 (GRCm39) |
T1367S |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,267,901 (GRCm39) |
S118R |
probably benign |
Het |
|
| Other mutations in Sec14l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation