Incidental Mutation 'IGL01771:Sec14l5'
| ID |
153855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sec14l5
|
| Ensembl Gene |
ENSMUSG00000091712 |
| Gene Name |
SEC14-like lipid binding 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL01771
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4964973-5005135 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 4996494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165810]
[ENSMUST00000230616]
|
| AlphaFold |
B2RXM5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000165810
|
| SMART Domains |
Protein: ENSMUSP00000128063
Gene: ENSMUSG00000091712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRELI
|
17 |
173 |
4.2e-52 |
PFAM |
|
CRAL_TRIO_N
|
263 |
288 |
1.05e-4 |
SMART |
|
SEC14
|
306 |
479 |
1.59e-58 |
SMART |
|
low complexity region
|
496 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
695 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230616
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn10 |
T |
A |
1: 92,868,087 (GRCm39) |
W185R |
probably damaging |
Het |
| Frmd8 |
A |
G |
19: 5,919,603 (GRCm39) |
L148P |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,059,488 (GRCm39) |
C447R |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,137,606 (GRCm39) |
V704D |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,197,150 (GRCm39) |
H221Q |
probably benign |
Het |
| Klk1b8 |
A |
T |
7: 43,604,290 (GRCm39) |
I253L |
probably damaging |
Het |
| Or10aa4-ps1 |
T |
C |
1: 173,878,887 (GRCm39) |
|
probably benign |
Het |
| Or1ad8 |
A |
G |
11: 50,898,593 (GRCm39) |
T265A |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,490 (GRCm39) |
I221N |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,134,891 (GRCm39) |
N293S |
probably damaging |
Het |
| Or8k40 |
C |
T |
2: 86,584,626 (GRCm39) |
C152Y |
probably benign |
Het |
| Pdp2 |
A |
T |
8: 105,320,754 (GRCm39) |
Y201F |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,036,094 (GRCm39) |
I1112K |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,353,624 (GRCm39) |
I378T |
probably damaging |
Het |
| Rhbdd1 |
T |
A |
1: 82,355,313 (GRCm39) |
D248E |
probably benign |
Het |
| Sel1l3 |
T |
G |
5: 53,279,183 (GRCm39) |
D960A |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,115,951 (GRCm39) |
Y293H |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,744,185 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
C |
5: 137,391,330 (GRCm39) |
N4718S |
unknown |
Het |
| Zfyve16 |
T |
C |
13: 92,658,680 (GRCm39) |
I410M |
probably benign |
Het |
|
| Other mutations in Sec14l5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0226:Sec14l5
|
UTSW |
16 |
4,998,167 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0333:Sec14l5
|
UTSW |
16 |
4,984,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0370:Sec14l5
|
UTSW |
16 |
4,998,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0581:Sec14l5
|
UTSW |
16 |
4,996,349 (GRCm39) |
splice site |
probably null |
|
|
R2109:Sec14l5
|
UTSW |
16 |
4,984,968 (GRCm39) |
nonsense |
probably null |
|
|
R2230:Sec14l5
|
UTSW |
16 |
4,994,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2944:Sec14l5
|
UTSW |
16 |
4,998,697 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3001:Sec14l5
|
UTSW |
16 |
4,989,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Sec14l5
|
UTSW |
16 |
4,989,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Sec14l5
|
UTSW |
16 |
4,983,518 (GRCm39) |
splice site |
probably null |
|
|
R3432:Sec14l5
|
UTSW |
16 |
4,996,463 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3913:Sec14l5
|
UTSW |
16 |
4,965,720 (GRCm39) |
splice site |
probably benign |
|
|
R4941:Sec14l5
|
UTSW |
16 |
4,994,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Sec14l5
|
UTSW |
16 |
4,985,004 (GRCm39) |
splice site |
probably null |
|
|
R5474:Sec14l5
|
UTSW |
16 |
4,996,382 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5871:Sec14l5
|
UTSW |
16 |
4,986,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6226:Sec14l5
|
UTSW |
16 |
4,994,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6315:Sec14l5
|
UTSW |
16 |
4,998,141 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6333:Sec14l5
|
UTSW |
16 |
4,984,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6360:Sec14l5
|
UTSW |
16 |
4,990,859 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Sec14l5
|
UTSW |
16 |
4,998,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Sec14l5
|
UTSW |
16 |
4,994,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Sec14l5
|
UTSW |
16 |
4,993,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation