Incidental Mutation 'R1054:Sdr16c6'
ID94168
Institutional Source Beutler Lab
Gene Symbol Sdr16c6
Ensembl Gene ENSMUSG00000071019
Gene Nameshort chain dehydrogenase/reductase family 16C, member 6
Synonyms4833413O15Rik
MMRRC Submission 039144-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #R1054 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location4055929-4077522 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4069908 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 144 (V144A)
Ref Sequence ENSEMBL: ENSMUSP00000104020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095151] [ENSMUST00000108383]
Predicted Effect probably damaging
Transcript: ENSMUST00000095151
AA Change: V144A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092773
Gene: ENSMUSG00000071019
AA Change: V144A

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 damaging
Transcript: ENSMUST00000108383
AA Change: V144A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104020
Gene: ENSMUSG00000071019
AA Change: V144A

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,751,559 T159A probably benign Het
Arhgef38 T C 3: 133,116,465 Y763C probably damaging Het
Arv1 T A 8: 124,731,872 F245Y probably benign Het
Ccdc175 A G 12: 72,178,544 I113T possibly damaging Het
Cdc42bpb A T 12: 111,313,353 M932K probably benign Het
Cdh15 T C 8: 122,864,337 F442L possibly damaging Het
Col28a1 C T 6: 8,175,534 D105N probably damaging Het
Cpne4 A G 9: 105,022,401 T428A probably benign Het
Cramp1l T A 17: 24,983,177 I444F probably damaging Het
Dhx32 T A 7: 133,725,272 K360M probably damaging Het
Dna2 T A 10: 62,963,823 C669S possibly damaging Het
Dusp8 ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC 7: 142,082,067 probably benign Het
Eif3f G A 7: 108,937,817 probably null Het
Elmod1 T C 9: 53,912,774 D310G probably benign Het
Fam105a T C 15: 27,664,549 R79G probably damaging Het
Fn1 A G 1: 71,586,214 *2272Q probably null Het
Gm12800 A G 4: 101,909,164 E15G probably benign Het
Gm8765 T C 13: 50,702,396 V690A probably benign Het
Gnat1 A G 9: 107,677,439 S76P probably damaging Het
Gtf2f2 T C 14: 75,995,445 T94A probably benign Het
Hacd4 A T 4: 88,423,027 W152R probably damaging Het
Kcnh8 A G 17: 52,803,484 Y241C probably damaging Het
Lepr T C 4: 101,782,596 I753T probably damaging Het
Med12l C T 3: 59,248,651 H1162Y probably damaging Het
Med25 C T 7: 44,880,380 A485T probably benign Het
Mup5 A T 4: 61,832,634 S145R probably benign Het
Myo1g A G 11: 6,518,987 V105A probably damaging Het
Npc2 A G 12: 84,760,718 probably null Het
Olfr414 A G 1: 174,430,853 T142A probably benign Het
Olfr648 A G 7: 104,180,291 I39T probably benign Het
Pdzd2 A G 15: 12,371,639 S2557P probably damaging Het
Pop1 T C 15: 34,509,809 V353A probably benign Het
Pou3f2 A G 4: 22,487,536 V199A possibly damaging Het
Ptprm A T 17: 67,042,318 N43K probably damaging Het
Qrsl1 C T 10: 43,882,081 D339N probably damaging Het
Rpl13-ps3 C A 14: 58,893,945 noncoding transcript Het
Sdk2 C T 11: 113,838,646 silent Het
Spata31d1b C A 13: 59,717,518 H827N probably damaging Het
Taf4b T A 18: 14,821,473 H535Q probably benign Het
Timmdc1 A G 16: 38,522,428 V36A probably benign Het
Tmem74b C T 2: 151,706,419 A22V probably benign Het
Txnrd3 T A 6: 89,650,561 Y65* probably null Het
Vmn1r200 T A 13: 22,395,454 S133R probably damaging Het
Vwf G A 6: 125,590,227 C311Y probably damaging Het
Wipf2 G A 11: 98,896,315 R390H possibly damaging Het
Zfp282 T A 6: 47,904,599 S407T probably benign Het
Other mutations in Sdr16c6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01463:Sdr16c6 APN 4 4063238 missense probably damaging 1.00
IGL02801:Sdr16c6 APN 4 4076603 missense probably benign 0.00
R0036:Sdr16c6 UTSW 4 4063335 splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- GGCACTTTCCAAAGCCTTAGCCTC -3'
(R):5'- TTGACATGCTGTGTACTCCACAACTAC -3'

Sequencing Primer
(F):5'- AAAGCCTTAGCCTCTAGGCATTG -3'
(R):5'- CCATGTGTCTCTCATTTCTGGGT -3'
Posted On2014-01-05