Incidental Mutation 'IGL01568:Sdr42e1'
ID91044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdr42e1
Ensembl Gene ENSMUSG00000034308
Gene Nameshort chain dehydrogenase/reductase family 42E, member 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01568
Quality Score
Status
Chromosome8
Chromosomal Location117661399-117673689 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117663443 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 153 (Y153C)
Ref Sequence ENSEMBL: ENSMUSP00000133837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037955] [ENSMUST00000173522] [ENSMUST00000174450]
Predicted Effect probably damaging
Transcript: ENSMUST00000037955
AA Change: Y153C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044457
Gene: ENSMUSG00000034308
AA Change: Y153C

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 9 241 4.2e-14 PFAM
Pfam:Polysacc_synt_2 11 129 7.1e-11 PFAM
Pfam:NAD_binding_10 11 239 3.3e-10 PFAM
Pfam:Epimerase 11 255 6.7e-29 PFAM
Pfam:3Beta_HSD 12 285 3.1e-69 PFAM
Pfam:NAD_binding_4 27 233 7.1e-14 PFAM
transmembrane domain 367 389 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173522
AA Change: Y153C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133782
Gene: ENSMUSG00000034308
AA Change: Y153C

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 9 208 2.4e-13 PFAM
Pfam:Polysacc_synt_2 11 129 5.2e-11 PFAM
Pfam:Epimerase 11 250 4.3e-28 PFAM
Pfam:GDP_Man_Dehyd 12 273 1.3e-9 PFAM
Pfam:3Beta_HSD 12 285 4.7e-69 PFAM
Pfam:NAD_binding_4 27 233 2.1e-11 PFAM
transmembrane domain 367 389 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174450
AA Change: Y153C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133837
Gene: ENSMUSG00000034308
AA Change: Y153C

DomainStartEndE-ValueType
Pfam:adh_short 9 136 1.1e-6 PFAM
Pfam:RmlD_sub_bind 9 184 6.7e-15 PFAM
Pfam:Polysacc_synt_2 11 129 6e-12 PFAM
Pfam:Epimerase 11 176 1.8e-21 PFAM
Pfam:NAD_binding_10 11 189 4.8e-10 PFAM
Pfam:3Beta_HSD 12 189 5.4e-43 PFAM
Pfam:NAD_binding_4 25 186 6.6e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik A G 6: 50,573,698 probably benign Het
Akap13 T A 7: 75,608,522 L298* probably null Het
Capn15 G T 17: 25,965,445 R21S probably damaging Het
Cbs A G 17: 31,621,514 L290P possibly damaging Het
Dnah5 T C 15: 28,229,652 I144T probably benign Het
Dok4 T A 8: 94,866,802 I119F probably benign Het
Dpp9 T C 17: 56,191,159 N599S probably benign Het
Ep400 T C 5: 110,719,495 T984A unknown Het
Fcrls T C 3: 87,256,679 N381S probably damaging Het
Fhod3 A G 18: 25,120,162 I1390V probably benign Het
Gabbr1 A G 17: 37,070,669 Y775C probably damaging Het
Gimap9 A G 6: 48,677,616 T46A probably benign Het
Gm3696 T C 14: 7,089,819 N88S probably benign Het
Gm5277 A G 3: 78,892,436 noncoding transcript Het
Gpr153 C A 4: 152,282,368 probably null Het
Hgf A T 5: 16,564,814 K95N probably damaging Het
Igf2r A G 17: 12,683,985 S2393P possibly damaging Het
Ikbke C A 1: 131,257,896 probably null Het
Il17re G T 6: 113,470,052 R588L probably damaging Het
Itch T C 2: 155,212,462 probably benign Het
Krt2 T A 15: 101,813,211 D465V probably damaging Het
Krt28 G T 11: 99,371,417 P249Q probably damaging Het
Lax1 A T 1: 133,680,300 D234E probably benign Het
Mtmr3 A G 11: 4,527,861 I61T probably damaging Het
Naip5 G T 13: 100,217,101 Q1217K probably benign Het
Nt5dc3 A G 10: 86,833,938 T466A probably benign Het
Olfr1350 A T 7: 6,570,570 H193L possibly damaging Het
Olfr283 T C 15: 98,378,906 D68G probably damaging Het
Pcdhb3 T C 18: 37,302,001 V340A possibly damaging Het
Pclo C T 5: 14,678,429 probably benign Het
Piezo2 C T 18: 63,030,392 V2152I probably benign Het
Pip4k2b A T 11: 97,729,552 probably null Het
Ptprs G A 17: 56,413,958 H1432Y probably damaging Het
Rars A G 11: 35,825,981 probably benign Het
Scrn1 A G 6: 54,522,754 probably benign Het
Slc18a1 A T 8: 69,065,626 S245R probably damaging Het
Tns1 T G 1: 73,953,509 D670A probably damaging Het
Trim16 T A 11: 62,820,858 D118E probably benign Het
Trpv1 A G 11: 73,238,443 D62G probably benign Het
Tyr A G 7: 87,437,948 L452P probably damaging Het
Ubr4 T C 4: 139,421,373 C1723R probably damaging Het
Uqcrb G A 13: 66,901,395 probably benign Het
Vax2 G T 6: 83,711,537 V81L possibly damaging Het
Zan A G 5: 137,464,844 V691A unknown Het
Zfp335 A G 2: 164,894,788 S976P possibly damaging Het
Zfp384 C T 6: 125,024,132 P56S probably damaging Het
Other mutations in Sdr42e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Sdr42e1 APN 8 117662937 missense probably benign 0.14
PIT4581001:Sdr42e1 UTSW 8 117663518 missense probably damaging 0.99
R0194:Sdr42e1 UTSW 8 117663109 missense probably damaging 1.00
R1055:Sdr42e1 UTSW 8 117663584 missense probably damaging 0.98
R2108:Sdr42e1 UTSW 8 117665024 missense probably damaging 0.99
R2176:Sdr42e1 UTSW 8 117662877 missense possibly damaging 0.63
R2907:Sdr42e1 UTSW 8 117662772 missense probably damaging 0.99
R4551:Sdr42e1 UTSW 8 117663608 missense probably benign 0.01
R4651:Sdr42e1 UTSW 8 117663621 missense probably benign 0.01
R5148:Sdr42e1 UTSW 8 117663603 missense probably damaging 1.00
R5240:Sdr42e1 UTSW 8 117663282 missense probably benign 0.00
R6242:Sdr42e1 UTSW 8 117663197 missense possibly damaging 0.87
R7417:Sdr42e1 UTSW 8 117662751 missense probably benign 0.04
R7716:Sdr42e1 UTSW 8 117673647 start gained probably benign
R7995:Sdr42e1 UTSW 8 117663268 missense probably benign 0.00
R8255:Sdr42e1 UTSW 8 117663763 missense probably benign 0.00
Posted On2013-12-09