Incidental Mutation 'R0044:Degs2'
| ID |
15511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Degs2
|
| Ensembl Gene |
ENSMUSG00000021263 |
| Gene Name |
delta 4-desaturase, sphingolipid 2 |
| Synonyms |
Des2, 2210008A03Rik |
| MMRRC Submission |
038338-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0044 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
108653051-108668561 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108658413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 189
(N189D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021689]
[ENSMUST00000021691]
[ENSMUST00000077735]
[ENSMUST00000109854]
[ENSMUST00000167978]
[ENSMUST00000172409]
|
| AlphaFold |
Q8R2F2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021689
|
| SMART Domains |
Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
109 |
7.72e-53 |
SMART |
|
low complexity region
|
172 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
|
Pfam:VASP_tetra
|
375 |
411 |
2.6e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021691
AA Change: N189D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021691
Gene: ENSMUSG00000021263
AA Change: N189D
| Domain | Start | End | E-Value | Type |
|---|
|
Lipid_DES
|
5 |
43 |
5.57e-18 |
SMART |
|
Pfam:FA_desaturase
|
65 |
294 |
3.3e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077735
|
| SMART Domains |
Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
109 |
7.72e-53 |
SMART |
|
low complexity region
|
172 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
|
Pfam:VASP_tetra
|
353 |
392 |
2e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109854
|
| SMART Domains |
Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
7 |
115 |
1.87e-51 |
SMART |
|
low complexity region
|
178 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
257 |
N/A |
INTRINSIC |
|
Pfam:VASP_tetra
|
359 |
398 |
7.1e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167978
AA Change: N189D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125891
Gene: ENSMUSG00000021263
AA Change: N189D
| Domain | Start | End | E-Value | Type |
|---|
|
Lipid_DES
|
5 |
43 |
5.57e-18 |
SMART |
|
Pfam:FA_desaturase
|
64 |
275 |
1.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172409
|
| SMART Domains |
Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
96 |
5.82e-39 |
SMART |
|
low complexity region
|
159 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
Pfam:VASP_tetra
|
361 |
400 |
1.6e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221885
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222255
AA Change: N10D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222048
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223548
|
| Meta Mutation Damage Score |
0.9583 |
| Coding Region Coverage |
- 1x: 79.0%
- 3x: 68.4%
- 10x: 42.5%
- 20x: 22.8%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,453,357 (GRCm39) |
|
probably benign |
Het |
| Adcy2 |
A |
G |
13: 68,876,018 (GRCm39) |
S495P |
possibly damaging |
Het |
| Asxl1 |
C |
T |
2: 153,242,129 (GRCm39) |
T893I |
probably benign |
Het |
| Bpifb2 |
C |
T |
2: 153,724,599 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,279,138 (GRCm39) |
L190H |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,483,753 (GRCm39) |
V830A |
probably benign |
Het |
| Dido1 |
C |
T |
2: 180,303,612 (GRCm39) |
A1431T |
probably damaging |
Het |
| Diras1 |
G |
T |
10: 80,857,972 (GRCm39) |
S93* |
probably null |
Het |
| Emc3 |
C |
G |
6: 113,508,344 (GRCm39) |
V34L |
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,358,020 (GRCm39) |
Y681* |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,355,457 (GRCm39) |
M2236K |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,302,520 (GRCm39) |
Y2948F |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,348,058 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,357,899 (GRCm39) |
I377F |
probably damaging |
Het |
| Mavs |
C |
A |
2: 131,083,944 (GRCm39) |
T147N |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,061,285 (GRCm39) |
V492A |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,222,083 (GRCm39) |
E323G |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,539 (GRCm39) |
N51S |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,465,538 (GRCm39) |
|
probably null |
Het |
| Prkcg |
A |
T |
7: 3,363,517 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
C |
A |
5: 99,120,989 (GRCm39) |
D411Y |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,004,566 (GRCm39) |
V63A |
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,600,476 (GRCm39) |
D10V |
probably benign |
Het |
| Rrm2b |
A |
G |
15: 37,953,932 (GRCm39) |
S39P |
possibly damaging |
Het |
| Scn5a |
A |
G |
9: 119,321,113 (GRCm39) |
|
probably null |
Het |
| Spata24 |
A |
G |
18: 35,789,887 (GRCm39) |
S167P |
probably damaging |
Het |
| Spock3 |
C |
T |
8: 63,597,041 (GRCm39) |
T115I |
possibly damaging |
Het |
| Tnfaip3 |
C |
A |
10: 18,887,374 (GRCm39) |
M50I |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,303,911 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,164,369 (GRCm39) |
|
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,754,286 (GRCm39) |
W93* |
probably null |
Het |
|
| Other mutations in Degs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02407:Degs2
|
APN |
12 |
108,658,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Degs2
|
APN |
12 |
108,658,842 (GRCm39) |
missense |
probably benign |
|
|
largo
|
UTSW |
12 |
108,658,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0039:Degs2
|
UTSW |
12 |
108,656,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Degs2
|
UTSW |
12 |
108,658,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Degs2
|
UTSW |
12 |
108,668,469 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1642:Degs2
|
UTSW |
12 |
108,658,451 (GRCm39) |
missense |
probably benign |
|
|
R4183:Degs2
|
UTSW |
12 |
108,658,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4817:Degs2
|
UTSW |
12 |
108,655,325 (GRCm39) |
nonsense |
probably null |
|
|
R6268:Degs2
|
UTSW |
12 |
108,658,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6863:Degs2
|
UTSW |
12 |
108,668,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Degs2
|
UTSW |
12 |
108,658,332 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7839:Degs2
|
UTSW |
12 |
108,658,460 (GRCm39) |
frame shift |
probably null |
|
|
R8356:Degs2
|
UTSW |
12 |
108,658,223 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Degs2
|
UTSW |
12 |
108,658,856 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2012-12-21 |
Incidental Mutation