Incidental Mutation 'R6501:Sec14l1'
| ID |
519739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec14l1
|
| Ensembl Gene |
ENSMUSG00000020823 |
| Gene Name |
SEC14-like lipid binding 1 |
| Synonyms |
2810012L19Rik, 1200017E04Rik |
| MMRRC Submission |
044633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6501 (G1)
|
| Quality Score |
130.008 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117005994-117050094 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117047676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 698
(S698G)
|
| 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: S698G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823
AA Change: S698G
| 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: S698G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823
AA Change: S698G
| 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: S698G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823
AA Change: S698G
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,914,165 (GRCm39) |
C154* |
probably null |
Het |
| Ada |
A |
G |
2: 163,570,108 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,886,276 (GRCm39) |
V535I |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,968,509 (GRCm39) |
N1058S |
probably null |
Het |
| Cdadc1 |
C |
T |
14: 59,823,898 (GRCm39) |
C198Y |
probably benign |
Het |
| Chrna7 |
G |
A |
7: 62,755,863 (GRCm39) |
R228C |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,149 (GRCm39) |
N301S |
probably damaging |
Het |
| Cts8 |
T |
A |
13: 61,398,756 (GRCm39) |
D250V |
probably damaging |
Het |
| Cyp26a1 |
G |
T |
19: 37,687,518 (GRCm39) |
R235L |
possibly damaging |
Het |
| Disc1 |
A |
T |
8: 125,944,844 (GRCm39) |
M598L |
probably benign |
Het |
| Ear6 |
T |
A |
14: 52,091,681 (GRCm39) |
V76D |
possibly damaging |
Het |
| Grifin |
A |
G |
5: 140,549,036 (GRCm39) |
*145R |
probably null |
Het |
| Htr2b |
T |
G |
1: 86,038,363 (GRCm39) |
E11A |
probably damaging |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,255 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
A |
C |
13: 9,218,829 (GRCm39) |
H522P |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,363,425 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
C |
6: 15,770,516 (GRCm39) |
L174P |
possibly damaging |
Het |
| Mmp17 |
A |
G |
5: 129,683,469 (GRCm39) |
E535G |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,685,852 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
T |
14: 56,100,989 (GRCm39) |
T260S |
probably benign |
Het |
| Or4k44 |
C |
T |
2: 111,368,124 (GRCm39) |
G170D |
probably damaging |
Het |
| Or7e168 |
A |
T |
9: 19,720,271 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,585 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pbx1 |
G |
T |
1: 168,037,103 (GRCm39) |
D109E |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 109,253,476 (GRCm39) |
H101L |
probably benign |
Het |
| Pdlim3 |
T |
C |
8: 46,361,639 (GRCm39) |
I155T |
possibly damaging |
Het |
| Plekha5 |
T |
A |
6: 140,471,655 (GRCm39) |
Y26* |
probably null |
Het |
| Prpf6 |
T |
A |
2: 181,263,713 (GRCm39) |
L191* |
probably null |
Het |
| Rabl6 |
A |
G |
2: 25,492,459 (GRCm39) |
V80A |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,381,503 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,063,412 (GRCm39) |
S622P |
possibly damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,885,440 (GRCm39) |
G447S |
probably benign |
Het |
| Slc2a6 |
A |
T |
2: 26,913,143 (GRCm39) |
Y383* |
probably null |
Het |
| Slc9a9 |
C |
A |
9: 94,818,424 (GRCm39) |
Q273K |
probably benign |
Het |
| Spint2 |
A |
G |
7: 28,963,131 (GRCm39) |
Y56H |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,472,146 (GRCm39) |
M123K |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,621 (GRCm39) |
|
probably null |
Het |
| Trdn |
A |
C |
10: 33,342,450 (GRCm39) |
K619N |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,899,924 (GRCm39) |
T119A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,615,990 (GRCm39) |
Y8324C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,728,602 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,186,231 (GRCm39) |
L208P |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,342 (GRCm39) |
I178V |
probably benign |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,705 (GRCm39) |
M194V |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,166 (GRCm39) |
T647S |
probably benign |
Het |
| Wdr49 |
T |
A |
3: 75,246,765 (GRCm39) |
H289L |
probably benign |
Het |
| Wnk2 |
T |
G |
13: 49,300,159 (GRCm39) |
K184Q |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,590,978 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCCCAACTTTACAAGGGC -3'
(R):5'- AACTACCTCTCAGGATGGTCTGG -3'
Sequencing Primer
(F):5'- ACTTTACAAGGGCCGACG -3'
(R):5'- GTGACTAGTGACCATCTGCAGATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation