Incidental Mutation 'R4183:Degs2'
| ID |
319833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Degs2
|
| Ensembl Gene |
ENSMUSG00000021263 |
| Gene Name |
delta 4-desaturase, sphingolipid 2 |
| Synonyms |
Des2, 2210008A03Rik |
| MMRRC Submission |
041019-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108653051-108668561 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108658358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 207
(K207R)
|
| 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: K207R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021691
Gene: ENSMUSG00000021263
AA Change: K207R
| 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: K207R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125891
Gene: ENSMUSG00000021263
AA Change: K207R
| 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: K28R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222048
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
T |
C |
8: 123,626,415 (GRCm39) |
I198V |
possibly damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Arpc2 |
T |
A |
1: 74,287,322 (GRCm39) |
N31K |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,866,990 (GRCm39) |
V139D |
possibly damaging |
Het |
| Bicral |
T |
C |
17: 47,124,955 (GRCm39) |
K615E |
probably damaging |
Het |
| Ccdc27 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
4: 154,120,763 (GRCm39) |
|
probably benign |
Het |
| Chrnb1 |
T |
C |
11: 69,677,922 (GRCm39) |
M277V |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 15,960,464 (GRCm39) |
C3317Y |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Fam167a |
T |
C |
14: 63,689,769 (GRCm39) |
V22A |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,831,566 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
T |
C |
7: 118,583,749 (GRCm39) |
D40G |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,451,134 (GRCm39) |
I505T |
probably damaging |
Het |
| Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,848,346 (GRCm39) |
D632G |
probably damaging |
Het |
| Mcidas |
A |
G |
13: 113,130,906 (GRCm39) |
D77G |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,188,964 (GRCm39) |
V33A |
unknown |
Het |
| Me3 |
A |
G |
7: 89,501,038 (GRCm39) |
D583G |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,703,337 (GRCm39) |
T23S |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,240,436 (GRCm39) |
M780T |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,570,158 (GRCm39) |
L395P |
probably damaging |
Het |
| Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,465,743 (GRCm39) |
V876E |
probably benign |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Or4a39 |
T |
C |
2: 89,236,935 (GRCm39) |
T163A |
probably benign |
Het |
| Or51v8 |
T |
C |
7: 103,320,178 (GRCm39) |
Y20C |
possibly damaging |
Het |
| Or8g50 |
A |
G |
9: 39,648,344 (GRCm39) |
T78A |
probably benign |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Pcsk4 |
C |
T |
10: 80,160,845 (GRCm39) |
R327Q |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,301,488 (GRCm39) |
F687L |
possibly damaging |
Het |
| Rb1 |
A |
G |
14: 73,435,966 (GRCm39) |
|
probably null |
Het |
| Tfpi2 |
C |
A |
6: 3,963,926 (GRCm39) |
V51L |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,924,925 (GRCm39) |
D1143G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,586 (GRCm39) |
M25473T |
probably benign |
Het |
| Vmn1r201 |
A |
G |
13: 22,659,022 (GRCm39) |
I79V |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Wdr25 |
T |
A |
12: 108,993,257 (GRCm39) |
F491Y |
probably benign |
Het |
| Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTACCAGTGGCAGGTAGTAAC -3'
(R):5'- TATTCCTACGAACTTCGAGGGC -3'
Sequencing Primer
(F):5'- CCGGGGATACTGGGGAAGTC -3'
(R):5'- ACGAACTTCGAGGGCTGGTTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation