Incidental Mutation 'R5830:Kdsr'
| ID |
449251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdsr
|
| Ensembl Gene |
ENSMUSG00000009905 |
| Gene Name |
3-ketodihydrosphingosine reductase |
| Synonyms |
9430079B08Rik, 6330410P18Rik, Fvt1 |
| MMRRC Submission |
043219-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R5830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
106648189-106687457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106675262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 125
(S125P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010049]
|
| AlphaFold |
Q6GV12 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010049
AA Change: S125P
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000010049
Gene: ENSMUSG00000009905
AA Change: S125P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187319
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobec3 |
A |
T |
15: 79,783,268 (GRCm39) |
N115I |
possibly damaging |
Het |
| Arl14ep |
T |
C |
2: 106,799,539 (GRCm39) |
S101G |
possibly damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,779,485 (GRCm39) |
T200I |
probably damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,572 (GRCm39) |
H571N |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,312,016 (GRCm39) |
R99* |
probably null |
Het |
| Cdyl2 |
A |
G |
8: 117,321,823 (GRCm39) |
Y235H |
probably benign |
Het |
| Chmp2a |
T |
C |
7: 12,766,039 (GRCm39) |
D161G |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,831,862 (GRCm39) |
W2091R |
unknown |
Het |
| Epha8 |
G |
A |
4: 136,663,701 (GRCm39) |
Q452* |
probably null |
Het |
| Fbn2 |
A |
G |
18: 58,247,541 (GRCm39) |
F451S |
probably benign |
Het |
| Fndc1 |
C |
A |
17: 8,007,918 (GRCm39) |
R72L |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,699,888 (GRCm39) |
E81G |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,200,433 (GRCm39) |
V358A |
possibly damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,545,548 (GRCm39) |
Y92* |
probably null |
Het |
| Il34 |
A |
G |
8: 111,475,323 (GRCm39) |
V71A |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,290,427 (GRCm39) |
F416L |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Ldb1 |
T |
A |
19: 46,022,557 (GRCm39) |
M307L |
probably benign |
Het |
| Lrr1 |
T |
A |
12: 69,225,445 (GRCm39) |
S374T |
possibly damaging |
Het |
| Mtmr2 |
A |
G |
9: 13,713,274 (GRCm39) |
I412V |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,589 (GRCm39) |
I298V |
possibly damaging |
Het |
| Ndst1 |
A |
G |
18: 60,836,910 (GRCm39) |
F384L |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,542 (GRCm39) |
E51G |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,382 (GRCm39) |
H165Y |
possibly damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,457 (GRCm39) |
H159L |
possibly damaging |
Het |
| Pde8b |
A |
T |
13: 95,178,398 (GRCm39) |
F582Y |
probably benign |
Het |
| Pik3r4 |
C |
A |
9: 105,522,023 (GRCm39) |
Y196* |
probably null |
Het |
| Pink1 |
A |
T |
4: 138,043,325 (GRCm39) |
M1K |
probably null |
Het |
| Scn7a |
A |
T |
2: 66,544,395 (GRCm39) |
Y365* |
probably null |
Het |
| Sec16a |
A |
T |
2: 26,330,853 (GRCm39) |
D387E |
probably benign |
Het |
| Sel1l |
A |
T |
12: 91,799,945 (GRCm39) |
F127Y |
probably damaging |
Het |
| Syt7 |
T |
A |
19: 10,399,151 (GRCm39) |
N82K |
probably damaging |
Het |
| Zfp358 |
G |
T |
8: 3,545,846 (GRCm39) |
V143L |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,079,323 (GRCm39) |
N878S |
possibly damaging |
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 |
|
IGL01375:Kdsr
|
APN |
1 |
106,655,424 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGCACTTAAGAGTTCACACC -3'
(R):5'- AGGTGCTTTCAGTTTCACTGC -3'
Sequencing Primer
(F):5'- TGCACTTAAGAGTTCACACCTAATGC -3'
(R):5'- CAGGAGTTGACAGCTCTTCTCTATAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation