Incidental Mutation 'R1282:Scd2'
| ID |
151079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scd2
|
| Ensembl Gene |
ENSMUSG00000025203 |
| Gene Name |
stearoyl-Coenzyme A desaturase 2 |
| Synonyms |
Scd-2 |
| MMRRC Submission |
039348-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44282115-44295303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44283620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 101
(L101P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026221]
|
| AlphaFold |
P13011 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026221
AA Change: L101P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026221
Gene: ENSMUSG00000025203
AA Change: L101P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
Pfam:FA_desaturase
|
96 |
315 |
4.9e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display neonatal lethality with variable penetrance depending on stain background, impaired skin barrier function, abnormal epidermal morphology, and abnormal lipid homeostasis in the skin and liver. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,666,297 (GRCm39) |
Y23H |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Atp2a2 |
G |
T |
5: 122,629,817 (GRCm39) |
T84K |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,964,263 (GRCm39) |
T562S |
probably benign |
Het |
| Cyp2b10 |
G |
A |
7: 25,625,505 (GRCm39) |
C436Y |
probably damaging |
Het |
| Dnajc7 |
T |
C |
11: 100,475,467 (GRCm39) |
D381G |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,983,117 (GRCm38) |
D129G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,223,826 (GRCm39) |
T1126A |
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,330,411 (GRCm39) |
N506S |
probably benign |
Het |
| Fastkd3 |
C |
A |
13: 68,732,676 (GRCm39) |
N332K |
possibly damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Foxp4 |
G |
A |
17: 48,186,568 (GRCm39) |
P404S |
unknown |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm12789 |
T |
A |
4: 101,845,487 (GRCm39) |
W59R |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,289 (GRCm39) |
N1502K |
probably benign |
Het |
| H2-K2 |
A |
C |
17: 34,218,421 (GRCm39) |
I165S |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,330,030 (GRCm39) |
I470T |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,395,985 (GRCm39) |
I657F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,750,773 (GRCm39) |
N2930K |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,859 (GRCm39) |
I220F |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,567,068 (GRCm39) |
V73A |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,113,456 (GRCm39) |
I1963T |
probably damaging |
Het |
| Rep15 |
C |
T |
6: 146,934,727 (GRCm39) |
R189* |
probably null |
Het |
| Resf1 |
C |
T |
6: 149,230,670 (GRCm39) |
Q1239* |
probably null |
Het |
| Rtp3 |
T |
C |
9: 110,815,988 (GRCm39) |
K188E |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,531,193 (GRCm39) |
H561Q |
probably damaging |
Het |
| Sfr1 |
T |
C |
19: 47,721,407 (GRCm39) |
S118P |
probably damaging |
Het |
| Slf1 |
C |
T |
13: 77,191,959 (GRCm39) |
M958I |
probably damaging |
Het |
| Snrk |
G |
T |
9: 121,989,586 (GRCm39) |
R310L |
possibly damaging |
Het |
| Snx11 |
T |
C |
11: 96,663,987 (GRCm39) |
Y35C |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,594 (GRCm39) |
T404A |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,100,032 (GRCm39) |
L1337F |
possibly damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,502,401 (GRCm39) |
T183M |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,301 (GRCm39) |
M633K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,932 (GRCm39) |
V691A |
probably benign |
Het |
|
| Other mutations in Scd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00800:Scd2
|
APN |
19 |
44,286,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01105:Scd2
|
APN |
19 |
44,286,497 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02201:Scd2
|
APN |
19 |
44,289,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02680:Scd2
|
APN |
19 |
44,289,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
unkinked
|
UTSW |
19 |
44,288,198 (GRCm39) |
nonsense |
probably null |
|
|
R0012:Scd2
|
UTSW |
19 |
44,289,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0366:Scd2
|
UTSW |
19 |
44,289,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0368:Scd2
|
UTSW |
19 |
44,289,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0373:Scd2
|
UTSW |
19 |
44,291,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Scd2
|
UTSW |
19 |
44,286,538 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2008:Scd2
|
UTSW |
19 |
44,291,610 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2329:Scd2
|
UTSW |
19 |
44,286,492 (GRCm39) |
nonsense |
probably null |
|
|
R4755:Scd2
|
UTSW |
19 |
44,289,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Scd2
|
UTSW |
19 |
44,289,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Scd2
|
UTSW |
19 |
44,289,710 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5568:Scd2
|
UTSW |
19 |
44,288,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5702:Scd2
|
UTSW |
19 |
44,286,502 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6248:Scd2
|
UTSW |
19 |
44,291,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6377:Scd2
|
UTSW |
19 |
44,288,198 (GRCm39) |
nonsense |
probably null |
|
|
R8422:Scd2
|
UTSW |
19 |
44,289,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8424:Scd2
|
UTSW |
19 |
44,289,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8735:Scd2
|
UTSW |
19 |
44,289,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9597:Scd2
|
UTSW |
19 |
44,288,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTGCAGATCTCTGGCGCTTAC -3'
(R):5'- CCCCATTCTTAACACCACGAGGTTC -3'
Sequencing Primer
(F):5'- CACTGGGGAGCAGATGTTCG -3'
(R):5'- AACACCACGAGGTTCTTTGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation