Incidental Mutation 'R5392:Kdsr'
| ID |
425885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdsr
|
| Ensembl Gene |
ENSMUSG00000009905 |
| Gene Name |
3-ketodihydrosphingosine reductase |
| Synonyms |
9430079B08Rik, 6330410P18Rik, Fvt1 |
| MMRRC Submission |
042964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R5392 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
106648189-106687457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106680971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 76
(I76F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010049]
|
| AlphaFold |
Q6GV12 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010049
AA Change: I76F
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000010049
Gene: ENSMUSG00000009905
AA Change: I76F
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187617
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,852,088 (GRCm39) |
|
probably null |
Het |
| Acyp1 |
T |
C |
12: 85,325,759 (GRCm39) |
|
probably benign |
Het |
| Ces1b |
G |
A |
8: 93,798,590 (GRCm39) |
R199C |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,729,017 (GRCm39) |
R1308L |
probably benign |
Het |
| Cpa5 |
C |
T |
6: 30,630,829 (GRCm39) |
Q364* |
probably null |
Het |
| Cyth4 |
T |
A |
15: 78,491,185 (GRCm39) |
L88Q |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,896,243 (GRCm39) |
V59A |
probably damaging |
Het |
| Drd2 |
A |
G |
9: 49,306,928 (GRCm39) |
N5D |
possibly damaging |
Het |
| Epsti1 |
T |
C |
14: 78,224,184 (GRCm39) |
I272T |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,519,936 (GRCm39) |
C568* |
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,599,384 (GRCm39) |
A161V |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,054,139 (GRCm39) |
T465A |
probably damaging |
Het |
| Hecw1 |
C |
A |
13: 14,420,347 (GRCm39) |
Q1025H |
probably damaging |
Het |
| Irak4 |
A |
T |
15: 94,454,565 (GRCm39) |
M237L |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,454,566 (GRCm39) |
M237T |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,825,360 (GRCm39) |
F533S |
probably damaging |
Het |
| Kmt5b |
T |
C |
19: 3,852,127 (GRCm39) |
F103L |
possibly damaging |
Het |
| Krtcap2 |
C |
T |
3: 89,154,186 (GRCm39) |
L36F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,568,448 (GRCm39) |
|
probably null |
Het |
| Mta1 |
T |
C |
12: 113,096,856 (GRCm39) |
V559A |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,048 (GRCm39) |
|
probably null |
Het |
| Oas1d |
T |
C |
5: 121,055,003 (GRCm39) |
S192P |
possibly damaging |
Het |
| Or1n1b |
T |
A |
2: 36,780,686 (GRCm39) |
Y58F |
probably benign |
Het |
| Or6c76 |
A |
G |
10: 129,612,184 (GRCm39) |
I149V |
probably benign |
Het |
| Or6d15 |
A |
G |
6: 116,559,379 (GRCm39) |
F176S |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,359,501 (GRCm39) |
N21K |
probably damaging |
Het |
| Rad9b |
A |
T |
5: 122,489,641 (GRCm39) |
C25S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,814,102 (GRCm39) |
S454P |
probably damaging |
Het |
| Spink2 |
T |
A |
5: 77,354,872 (GRCm39) |
H40L |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,298,661 (GRCm39) |
D1082V |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,671,759 (GRCm39) |
D179G |
probably damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,113,998 (GRCm39) |
D181G |
probably damaging |
Het |
| Vmn1r174 |
A |
G |
7: 23,454,227 (GRCm39) |
I298V |
unknown |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,980,752 (GRCm39) |
E25G |
probably damaging |
Het |
| Zfp119a |
T |
C |
17: 56,173,328 (GRCm39) |
R172G |
probably benign |
Het |
| Zfp51 |
A |
T |
17: 21,685,584 (GRCm39) |
Y733F |
possibly damaging |
Het |
| Zfp658 |
A |
C |
7: 43,222,355 (GRCm39) |
E210A |
probably benign |
Het |
| Zp2 |
C |
A |
7: 119,734,987 (GRCm39) |
E433* |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTACAGAGACCTGAATTCTAGTC -3'
(R):5'- ACCCTGCTGTGACTTACCTG -3'
Sequencing Primer
(F):5'- ATTCCATCTTTTAGAAAGCGGCC -3'
(R):5'- GCTGTGACTTACCTGGGCTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation