Incidental Mutation 'R5850:Kdsr'
ID 454600
Institutional Source Beutler Lab
Gene Symbol Kdsr
Ensembl Gene ENSMUSG00000009905
Gene Name 3-ketodihydrosphingosine reductase
Synonyms 9430079B08Rik, 6330410P18Rik, Fvt1
MMRRC Submission 043226-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R5850 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 106648189-106687457 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 106683172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010049]
AlphaFold Q6GV12
Predicted Effect probably null
Transcript: ENSMUST00000010049
SMART Domains Protein: ENSMUSP00000010049
Gene: ENSMUSG00000009905

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Abhd14a A C 9: 106,317,548 (GRCm39) L225R probably damaging Het
Apbb1 A G 7: 105,216,790 (GRCm39) S39P probably damaging Het
Apc T C 18: 34,451,116 (GRCm39) S2637P possibly damaging Het
Apold1 T C 6: 134,961,058 (GRCm39) F171L probably damaging Het
Ascc3 T C 10: 50,587,049 (GRCm39) M967T probably damaging Het
Atf7ip T C 6: 136,543,785 (GRCm39) probably null Het
Bcl2l15 T A 3: 103,743,432 (GRCm39) V111D possibly damaging Het
Bsn A T 9: 107,992,149 (GRCm39) M1201K probably damaging Het
Ccdc141 T A 2: 76,859,747 (GRCm39) N965Y probably damaging Het
Cnn3 T C 3: 121,245,577 (GRCm39) Y98H probably damaging Het
Cnot1 G A 8: 96,460,775 (GRCm39) R117* probably null Het
Dlgap1 G A 17: 71,094,087 (GRCm39) V803M probably damaging Het
Drd3 A C 16: 43,638,695 (GRCm39) M299L probably benign Het
Ergic2 C A 6: 148,084,605 (GRCm39) M34I possibly damaging Het
Ext2 A T 2: 93,644,004 (GRCm39) D92E possibly damaging Het
Fmnl1 A G 11: 103,086,111 (GRCm39) probably benign Het
Ganab C T 19: 8,889,071 (GRCm39) R591W probably damaging Het
Macf1 T C 4: 123,401,099 (GRCm39) E813G probably damaging Het
Nlrc5 A G 8: 95,247,675 (GRCm39) T1621A probably benign Het
Nmnat1 G A 4: 149,554,124 (GRCm39) Q139* probably null Het
Os9 TTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTC 10: 126,934,348 (GRCm39) probably benign Het
Oxa1l T G 14: 54,605,121 (GRCm39) V11G possibly damaging Het
Padi1 A G 4: 140,542,141 (GRCm39) Y594H probably benign Het
Polr1a T A 6: 71,903,667 (GRCm39) F327I probably benign Het
Prf1 G T 10: 61,135,972 (GRCm39) A83S probably benign Het
Ptgs2 A G 1: 149,981,127 (GRCm39) E470G probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc19a2 A G 1: 164,091,025 (GRCm39) I278V probably benign Het
Smco1 A T 16: 32,092,674 (GRCm39) N115I probably damaging Het
Smyd3 G A 1: 178,871,420 (GRCm39) L320F probably damaging Het
Svil T A 18: 5,098,900 (GRCm39) probably null Het
Syne2 A G 12: 76,144,749 (GRCm39) D1566G probably damaging Het
Tpm2 T C 4: 43,523,296 (GRCm39) D20G probably damaging Het
Ubap1l A G 9: 65,281,045 (GRCm39) Y241C probably damaging Het
Usp15 A G 10: 122,960,417 (GRCm39) probably null Het
Wdr45b A G 11: 121,221,923 (GRCm39) probably benign Het
Zc3h14 A G 12: 98,745,414 (GRCm39) I468V probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Kdsr
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5830:Kdsr UTSW 1 106,675,262 (GRCm39) missense possibly damaging 0.89
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'- ACCCCTGATTGCTTAGAACAGG -3'
(R):5'- GCATTCCAGGTGACAAATGTG -3'

Sequencing Primer
(F):5'- CCTGATTGCTTAGAACAGGAAAAAC -3'
(R):5'- AGTCCTATGCAGTACTGGAGATCC -3'
Posted On 2017-02-10