Incidental Mutation 'R6900:Sec14l1'
| ID |
538497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec14l1
|
| Ensembl Gene |
ENSMUSG00000020823 |
| Gene Name |
SEC14-like lipid binding 1 |
| Synonyms |
2810012L19Rik, 1200017E04Rik |
| MMRRC Submission |
044994-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117005994-117050094 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117008049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 12
(Y12H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021177]
[ENSMUST00000090433]
[ENSMUST00000103026]
|
| AlphaFold |
A8Y5H7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021177
AA Change: Y12H
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823
AA Change: Y12H
| 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 damaging
Transcript: ENSMUST00000090433
AA Change: Y12H
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823
AA Change: Y12H
| 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 damaging
Transcript: ENSMUST00000103026
AA Change: Y12H
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823
AA Change: Y12H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
T |
C |
8: 78,037,491 (GRCm39) |
D579G |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,813,518 (GRCm39) |
S1333G |
probably null |
Het |
| Cep250 |
A |
G |
2: 155,838,190 (GRCm39) |
|
probably null |
Het |
| Chd3 |
T |
C |
11: 69,245,271 (GRCm39) |
D1149G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,701,510 (GRCm39) |
L215P |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,209,903 (GRCm39) |
M993V |
probably benign |
Het |
| Ggt5 |
A |
T |
10: 75,446,371 (GRCm39) |
Q523L |
possibly damaging |
Het |
| Hcn1 |
A |
G |
13: 117,793,363 (GRCm39) |
N205S |
probably benign |
Het |
| Htr1b |
A |
T |
9: 81,513,623 (GRCm39) |
I328N |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,633,591 (GRCm39) |
F980Y |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,757,008 (GRCm39) |
S243P |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,587 (GRCm39) |
N97S |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,394,908 (GRCm39) |
Y578C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,367,675 (GRCm39) |
K468E |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,890,350 (GRCm39) |
N1283S |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,128,097 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
A |
G |
15: 4,938,469 (GRCm39) |
I253V |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,835,169 (GRCm39) |
F228S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,295 (GRCm39) |
V267E |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,123 (GRCm39) |
F2004S |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,604,925 (GRCm39) |
L1130Q |
probably benign |
Het |
| Pparg |
G |
T |
6: 115,449,949 (GRCm39) |
R286L |
possibly damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,575,923 (GRCm39) |
S96G |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,938,857 (GRCm39) |
Q44* |
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,010,893 (GRCm39) |
F1227S |
possibly damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,571 (GRCm39) |
D304G |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,489 (GRCm39) |
N779S |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,014,858 (GRCm39) |
V693A |
probably damaging |
Het |
| Teddm1b |
G |
A |
1: 153,750,956 (GRCm39) |
C255Y |
probably benign |
Het |
| Ttk |
T |
A |
9: 83,754,083 (GRCm39) |
S819T |
probably damaging |
Het |
| Zfp362 |
C |
T |
4: 128,679,808 (GRCm39) |
C273Y |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCGTTTCAGCGAATCCTC -3'
(R):5'- AGATTTGCAGTTTCAGAGGCG -3'
Sequencing Primer
(F):5'- TCGTGTATGTTTGGAAATATGACC -3'
(R):5'- TTGTTTAAAACTGCCAGCCAGACTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation