Incidental Mutation 'IGL02801:Sdr16c6'
ID360175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdr16c6
Ensembl Gene ENSMUSG00000071019
Gene Nameshort chain dehydrogenase/reductase family 16C, member 6
Synonyms4833413O15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02801
Quality Score
Status
Chromosome4
Chromosomal Location4055929-4077522 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4076603 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 99 (I99V)
Ref Sequence ENSEMBL: ENSMUSP00000104020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095151] [ENSMUST00000108383]
Predicted Effect probably benign
Transcript: ENSMUST00000095151
AA Change: I99V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092773
Gene: ENSMUSG00000071019
AA Change: I99V

DomainStartEndE-ValueType
Pfam:KR 37 200 1.1e-14 PFAM
Pfam:adh_short 37 235 1.4e-46 PFAM
Pfam:adh_short_C2 43 211 1.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108383
AA Change: I99V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104020
Gene: ENSMUSG00000071019
AA Change: I99V

DomainStartEndE-ValueType
Pfam:adh_short 37 205 2e-32 PFAM
Pfam:KR 38 200 4.4e-15 PFAM
Pfam:adh_short_C2 43 214 4.1e-14 PFAM
low complexity region 235 241 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Bmi1 T C 2: 18,681,881 Y24H probably damaging Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 E27G probably damaging Het
Isl2 A G 9: 55,545,532 probably null Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Melk T C 4: 44,360,930 I570T probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Ranbp3 T C 17: 56,710,766 V474A probably benign Het
Rnf220 C T 4: 117,273,251 C259Y probably damaging Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Syncrip A T 9: 88,479,809 D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Tmem229a T A 6: 24,955,122 Q211L probably benign Het
Txlna T C 4: 129,640,408 D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null Het
Other mutations in Sdr16c6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01463:Sdr16c6 APN 4 4063238 missense probably damaging 1.00
R0036:Sdr16c6 UTSW 4 4063335 splice site probably benign
R1054:Sdr16c6 UTSW 4 4069908 missense probably damaging 1.00
R1778:Sdr16c6 UTSW 4 4058814 missense probably benign 0.00
R1928:Sdr16c6 UTSW 4 4069926 missense probably damaging 0.98
R1930:Sdr16c6 UTSW 4 4058809 missense probably benign 0.02
R2385:Sdr16c6 UTSW 4 4062671 missense probably damaging 0.99
R4865:Sdr16c6 UTSW 4 4058834 missense probably benign
R5342:Sdr16c6 UTSW 4 4069923 missense probably damaging 1.00
R5637:Sdr16c6 UTSW 4 4063232 missense possibly damaging 0.87
R5841:Sdr16c6 UTSW 4 4062728 missense possibly damaging 0.96
R6233:Sdr16c6 UTSW 4 4069984 missense probably damaging 1.00
R6977:Sdr16c6 UTSW 4 4076865 missense probably benign
R7423:Sdr16c6 UTSW 4 4076921 splice site probably benign
R7460:Sdr16c6 UTSW 4 4076575 critical splice donor site probably null
R7623:Sdr16c6 UTSW 4 4058801 missense not run
R8220:Sdr16c6 UTSW 4 4076872 missense probably benign 0.24
R8338:Sdr16c6 UTSW 4 4076620 missense probably damaging 1.00
Z1176:Sdr16c6 UTSW 4 4063308 missense probably damaging 1.00
Posted On2015-12-18