Incidental Mutation 'R9351:Sdsl'
ID 708058
Institutional Source Beutler Lab
Gene Symbol Sdsl
Ensembl Gene ENSMUSG00000029596
Gene Name serine dehydratase-like
Synonyms SDH1, SDS-RS1, 4432411H13Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9351 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120596251-120610875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120601159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 38 (Y38N)
Ref Sequence ENSEMBL: ENSMUSP00000031594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031594] [ENSMUST00000052258] [ENSMUST00000132916]
AlphaFold Q8R238
Predicted Effect probably benign
Transcript: ENSMUST00000031594
AA Change: Y38N

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031594
Gene: ENSMUSG00000029596
AA Change: Y38N

DomainStartEndE-ValueType
Pfam:PALP 11 310 8.7e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052258
AA Change: Y38N

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000058198
Gene: ENSMUSG00000029596
AA Change: Y38N

DomainStartEndE-ValueType
Pfam:PALP 11 310 7.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132916
AA Change: Y38N

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120868
Gene: ENSMUSG00000029596
AA Change: Y38N

DomainStartEndE-ValueType
Pfam:PALP 11 120 2.8e-30 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,068 (GRCm39) T84A probably benign Het
Abca17 G A 17: 24,510,751 (GRCm39) S909L probably benign Het
Adamtsl3 A T 7: 82,169,929 (GRCm39) Y371F possibly damaging Het
Adcy9 A T 16: 4,236,228 (GRCm39) S394R probably damaging Het
Ahcyl1 T C 3: 107,575,011 (GRCm39) N444S probably damaging Het
Ahnak A C 19: 8,985,232 (GRCm39) D2172A probably damaging Het
Arhgef28 C T 13: 98,130,576 (GRCm39) D421N probably benign Het
Brd1 T A 15: 88,614,307 (GRCm39) E196V possibly damaging Het
Cabs1 A G 5: 88,128,300 (GRCm39) D317G probably damaging Het
Ccdc96 T C 5: 36,642,069 (GRCm39) I25T unknown Het
Clgn A G 8: 84,153,218 (GRCm39) R607G possibly damaging Het
Clp1 T C 2: 84,554,195 (GRCm39) K325E probably benign Het
Dcun1d1 A T 3: 35,975,185 (GRCm39) I52K probably benign Het
Dync2h1 G A 9: 7,176,911 (GRCm39) T16I probably damaging Het
Eif4a3l1 A T 6: 136,306,771 (GRCm39) I411F probably benign Het
Epb41l5 A G 1: 119,477,639 (GRCm39) F711L probably benign Het
Esr1 G A 10: 4,696,763 (GRCm39) W204* probably null Het
Fat2 A G 11: 55,172,127 (GRCm39) L2862P probably damaging Het
Frmd3 A G 4: 74,054,068 (GRCm39) E159G probably damaging Het
Gsto2 T A 19: 47,874,608 (GRCm39) C243S possibly damaging Het
Heg1 A G 16: 33,545,867 (GRCm39) H206R probably benign Het
Ifi203 A G 1: 173,750,133 (GRCm39) V862A probably benign Het
Ippk C T 13: 49,615,107 (GRCm39) H497Y probably benign Het
Irf5 A T 6: 29,531,317 (GRCm39) N61I possibly damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kcnj12 C T 11: 60,960,673 (GRCm39) H324Y probably damaging Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Lars2 A G 9: 123,265,366 (GRCm39) Q474R probably benign Het
Lctl T C 9: 64,040,473 (GRCm39) F472S possibly damaging Het
Map4k2 T C 19: 6,401,223 (GRCm39) S590P probably benign Het
Mcf2l G T 8: 13,050,757 (GRCm39) L337F possibly damaging Het
Mvp A G 7: 126,595,435 (GRCm39) V225A probably damaging Het
Nfat5 T A 8: 108,065,910 (GRCm39) D241E probably damaging Het
Or6n2 T A 1: 173,897,021 (GRCm39) D52E probably benign Het
Pagr1a A T 7: 126,616,073 (GRCm39) H7Q probably damaging Het
Parp8 G T 13: 117,000,781 (GRCm39) Q787K probably damaging Het
Pcdhb2 C A 18: 37,429,369 (GRCm39) N90K probably damaging Het
Pde6h A G 6: 136,936,332 (GRCm39) K25R probably benign Het
Prr35 G A 17: 26,166,118 (GRCm39) Q390* probably null Het
Psd3 C A 8: 68,413,301 (GRCm39) A410S probably benign Het
Pus10 A G 11: 23,617,311 (GRCm39) N8S probably benign Het
Rnf115 T C 3: 96,695,994 (GRCm39) L260S probably damaging Het
Sf1 A G 19: 6,415,694 (GRCm39) D11G probably damaging Het
Stxbp5l A G 16: 36,936,047 (GRCm39) Y1177H probably damaging Het
Taar2 G A 10: 23,816,900 (GRCm39) V147I probably benign Het
Tmed3 A T 9: 89,584,980 (GRCm39) F92I possibly damaging Het
Tmprss15 T C 16: 78,832,086 (GRCm39) T357A probably damaging Het
Trbv14 A T 6: 41,112,428 (GRCm39) D75V probably damaging Het
Vmn1r30 A G 6: 58,412,262 (GRCm39) V190A probably benign Het
Vmn2r115 A T 17: 23,578,482 (GRCm39) I652F probably benign Het
Vmn2r26 A T 6: 124,016,333 (GRCm39) M266L probably benign Het
Wdr17 T C 8: 55,143,057 (GRCm39) I198V probably benign Het
Wdr27 G A 17: 15,128,833 (GRCm39) A540V possibly damaging Het
Zfp26 A C 9: 20,349,447 (GRCm39) Y372* probably null Het
Zfp286 A G 11: 62,670,801 (GRCm39) V424A probably damaging Het
Other mutations in Sdsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01581:Sdsl APN 5 120,597,632 (GRCm39) missense possibly damaging 0.83
IGL02414:Sdsl APN 5 120,600,124 (GRCm39) missense probably damaging 1.00
G1Funyon:Sdsl UTSW 5 120,597,584 (GRCm39) missense probably benign 0.01
R0487:Sdsl UTSW 5 120,597,533 (GRCm39) missense probably damaging 1.00
R2014:Sdsl UTSW 5 120,601,218 (GRCm39) missense probably damaging 1.00
R2015:Sdsl UTSW 5 120,601,218 (GRCm39) missense probably damaging 1.00
R2188:Sdsl UTSW 5 120,596,485 (GRCm39) missense probably damaging 1.00
R2448:Sdsl UTSW 5 120,596,446 (GRCm39) missense probably benign 0.02
R3833:Sdsl UTSW 5 120,601,183 (GRCm39) missense probably benign 0.08
R4764:Sdsl UTSW 5 120,600,119 (GRCm39) missense probably damaging 1.00
R4949:Sdsl UTSW 5 120,597,870 (GRCm39) missense possibly damaging 0.51
R6364:Sdsl UTSW 5 120,598,674 (GRCm39) missense probably damaging 0.99
R6836:Sdsl UTSW 5 120,600,167 (GRCm39) missense probably benign 0.01
R7226:Sdsl UTSW 5 120,598,702 (GRCm39) missense probably benign 0.01
R8093:Sdsl UTSW 5 120,598,017 (GRCm39) missense probably benign 0.04
R8301:Sdsl UTSW 5 120,597,584 (GRCm39) missense probably benign 0.01
R9356:Sdsl UTSW 5 120,597,948 (GRCm39) missense probably damaging 1.00
Z1176:Sdsl UTSW 5 120,596,592 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCTTGGCCATCTGAAGAGAG -3'
(R):5'- CATGGCTAAAGAGTCTGACCGG -3'

Sequencing Primer
(F):5'- GGTGTCACTTCAGTCATGGAG -3'
(R):5'- GGGTGCAAACCCTTTATGC -3'
Posted On 2022-04-18