Incidental Mutation 'IGL01375:Kdsr'
| ID |
78701 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kdsr
|
| Ensembl Gene |
ENSMUSG00000009905 |
| Gene Name |
3-ketodihydrosphingosine reductase |
| Synonyms |
9430079B08Rik, 6330410P18Rik, Fvt1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
IGL01375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
106648189-106687457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106655424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 272
(Y272N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010049]
|
| AlphaFold |
Q6GV12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010049
AA Change: Y272N
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000010049
Gene: ENSMUSG00000009905
AA Change: Y272N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:KR
|
33 |
214 |
9.4e-16 |
PFAM |
|
Pfam:adh_short
|
33 |
232 |
1.1e-59 |
PFAM |
|
Pfam:adh_short_C2
|
39 |
217 |
5.7e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
C |
T |
9: 69,390,301 (GRCm39) |
R68* |
probably null |
Het |
| Apc |
C |
T |
18: 34,446,707 (GRCm39) |
S1167L |
probably damaging |
Het |
| Aqp2 |
A |
G |
15: 99,479,983 (GRCm39) |
T149A |
possibly damaging |
Het |
| Asb8 |
T |
C |
15: 98,039,190 (GRCm39) |
E70G |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,278,454 (GRCm39) |
I172V |
possibly damaging |
Het |
| Cd38 |
A |
G |
5: 44,060,939 (GRCm39) |
M172V |
probably benign |
Het |
| Dync2i1 |
G |
T |
12: 116,193,296 (GRCm39) |
A552E |
possibly damaging |
Het |
| Dyrk2 |
A |
G |
10: 118,696,592 (GRCm39) |
V222A |
probably damaging |
Het |
| Ephb6 |
T |
A |
6: 41,592,845 (GRCm39) |
|
probably benign |
Het |
| Fbxo15 |
T |
C |
18: 84,976,404 (GRCm39) |
S48P |
possibly damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,520,767 (GRCm39) |
|
probably null |
Het |
| H2bl1 |
A |
G |
13: 99,120,650 (GRCm39) |
|
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,484 (GRCm39) |
T238A |
probably benign |
Het |
| Kcnh3 |
G |
A |
15: 99,124,874 (GRCm39) |
W108* |
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,308,910 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,067,200 (GRCm39) |
V747M |
probably damaging |
Het |
| Or10g3 |
A |
G |
14: 52,609,865 (GRCm39) |
I215T |
probably damaging |
Het |
| Or4a67 |
A |
G |
2: 88,597,810 (GRCm39) |
V283A |
probably benign |
Het |
| Pfn3 |
T |
A |
13: 55,562,641 (GRCm39) |
R113S |
possibly damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,521,803 (GRCm39) |
I123T |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,060,640 (GRCm39) |
I3121N |
probably damaging |
Het |
| Prepl |
C |
T |
17: 85,379,419 (GRCm39) |
G336D |
possibly damaging |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,631 (GRCm39) |
T249A |
possibly damaging |
Het |
| Rptor |
T |
A |
11: 119,787,262 (GRCm39) |
F1276I |
possibly damaging |
Het |
| Serpina3f |
G |
A |
12: 104,186,735 (GRCm39) |
V434I |
unknown |
Het |
| Slc25a12 |
T |
C |
2: 71,138,394 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,327,593 (GRCm39) |
C642R |
probably damaging |
Het |
| Slit2 |
C |
T |
5: 48,439,056 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
G |
14: 27,162,120 (GRCm39) |
R159G |
probably damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,837 (GRCm39) |
V604A |
probably benign |
Het |
| Tnfrsf1b |
T |
C |
4: 144,951,986 (GRCm39) |
Y126C |
probably damaging |
Het |
| Traf4 |
T |
C |
11: 78,050,908 (GRCm39) |
N416S |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,024,733 (GRCm39) |
I1132T |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,378,122 (GRCm39) |
Y642* |
probably null |
Het |
|
| Other mutations in Kdsr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Kdsr
|
APN |
1 |
106,683,187 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0361:Kdsr
|
UTSW |
1 |
106,675,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1051:Kdsr
|
UTSW |
1 |
106,675,310 (GRCm39) |
nonsense |
probably null |
|
|
R1589:Kdsr
|
UTSW |
1 |
106,662,271 (GRCm39) |
splice site |
probably null |
|
|
R1679:Kdsr
|
UTSW |
1 |
106,680,956 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4890:Kdsr
|
UTSW |
1 |
106,680,964 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5392:Kdsr
|
UTSW |
1 |
106,680,971 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5500:Kdsr
|
UTSW |
1 |
106,687,374 (GRCm39) |
unclassified |
probably benign |
|
|
R5830:Kdsr
|
UTSW |
1 |
106,675,262 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5850:Kdsr
|
UTSW |
1 |
106,683,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6005:Kdsr
|
UTSW |
1 |
106,662,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7515:Kdsr
|
UTSW |
1 |
106,662,290 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7841:Kdsr
|
UTSW |
1 |
106,671,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8282:Kdsr
|
UTSW |
1 |
106,652,727 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8312:Kdsr
|
UTSW |
1 |
106,675,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8392:Kdsr
|
UTSW |
1 |
106,671,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Kdsr
|
UTSW |
1 |
106,671,400 (GRCm39) |
missense |
probably null |
1.00 |
|
R8933:Kdsr
|
UTSW |
1 |
106,680,949 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9531:Kdsr
|
UTSW |
1 |
106,667,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9740:Kdsr
|
UTSW |
1 |
106,667,126 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2013-11-05 |
Incidental Mutation