Incidental Mutation 'R2944:Sec14l5'
| ID |
264634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec14l5
|
| Ensembl Gene |
ENSMUSG00000091712 |
| Gene Name |
SEC14-like lipid binding 5 |
| Synonyms |
|
| MMRRC Submission |
040518-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R2944 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4964973-5005135 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4998697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 579
(I579N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165810]
[ENSMUST00000230616]
|
| AlphaFold |
B2RXM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165810
AA Change: I579N
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000128063
Gene: ENSMUSG00000091712
AA Change: I579N
| 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 benign
Transcript: ENSMUST00000230616
AA Change: I579N
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
C |
7: 133,577,236 (GRCm39) |
M179V |
probably null |
Het |
| Alms1 |
C |
T |
6: 85,605,373 (GRCm39) |
T2341I |
probably damaging |
Het |
| Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
| Cdcp2 |
A |
C |
4: 106,959,755 (GRCm39) |
S57R |
possibly damaging |
Het |
| Cmya5 |
T |
A |
13: 93,229,350 (GRCm39) |
K1913* |
probably null |
Het |
| Coro1c |
C |
G |
5: 113,988,861 (GRCm39) |
G161R |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,760 (GRCm39) |
M258T |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,550,333 (GRCm39) |
C3318R |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,655,713 (GRCm39) |
M1015K |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,020,196 (GRCm39) |
S290P |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lce1i |
G |
A |
3: 92,685,063 (GRCm39) |
P38S |
unknown |
Het |
| Nup210l |
T |
A |
3: 90,088,852 (GRCm39) |
S1156T |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,234 (GRCm39) |
S263T |
possibly damaging |
Het |
| Semp2l2a |
A |
T |
8: 13,887,212 (GRCm39) |
L293Q |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,871,504 (GRCm39) |
V107L |
probably damaging |
Het |
| Tmprss11a |
T |
G |
5: 86,576,511 (GRCm39) |
R113S |
probably benign |
Het |
| Trmt10b |
A |
G |
4: 45,300,445 (GRCm39) |
M1V |
probably null |
Het |
| Ush1c |
T |
C |
7: 45,850,406 (GRCm39) |
E791G |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,138,606 (GRCm39) |
L328P |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,519,163 (GRCm39) |
T2263K |
probably damaging |
Het |
|
| Other mutations in Sec14l5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01771:Sec14l5
|
APN |
16 |
4,996,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCTCTCCTATGATGCAGG -3'
(R):5'- TACATAAGCACTGTGGGTGTCTC -3'
Sequencing Primer
(F):5'- TGCAGGTTGCCATGGAGATACC -3'
(R):5'- TGTGGGTGTCTCTCCCCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation