Incidental Mutation 'R6389:D16Ertd472e'
ID 515712
Institutional Source Beutler Lab
Gene Symbol D16Ertd472e
Ensembl Gene ENSMUSG00000022864
Gene Name DNA segment, Chr 16, ERATO Doi 472, expressed
Synonyms 2310009O17Rik, E330003K22Rik, 1700010I10Rik
MMRRC Submission 044538-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6389 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 78337224-78373576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78342071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 270 (S270P)
Ref Sequence ENSEMBL: ENSMUSP00000156198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114218] [ENSMUST00000114219] [ENSMUST00000114220] [ENSMUST00000231272] [ENSMUST00000231973] [ENSMUST00000232052] [ENSMUST00000232528]
AlphaFold Q9D7G4
Predicted Effect probably damaging
Transcript: ENSMUST00000114218
AA Change: S270P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109856
Gene: ENSMUSG00000022864
AA Change: S270P

DomainStartEndE-ValueType
Pfam:EURL 1 284 2.6e-175 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114219
AA Change: S270P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109857
Gene: ENSMUSG00000022864
AA Change: S270P

DomainStartEndE-ValueType
Pfam:EURL 1 284 1.7e-164 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114220
AA Change: S270P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109858
Gene: ENSMUSG00000022864
AA Change: S270P

DomainStartEndE-ValueType
Pfam:EURL 1 284 1.7e-164 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231272
Predicted Effect probably damaging
Transcript: ENSMUST00000231973
AA Change: S270P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000232052
AA Change: S270P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232329
Predicted Effect probably benign
Transcript: ENSMUST00000232528
Meta Mutation Damage Score 0.5812 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,254 (GRCm39) L326R possibly damaging Het
Abcb11 A T 2: 69,154,238 (GRCm39) N109K probably damaging Het
Actn1 T A 12: 80,221,296 (GRCm39) M586L probably benign Het
Ago4 T A 4: 126,401,037 (GRCm39) I603F probably damaging Het
Bicc1 A T 10: 70,794,752 (GRCm39) V135D probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Cadm4 A C 7: 24,198,959 (GRCm39) Q78P probably benign Het
Cfap74 T C 4: 155,507,793 (GRCm39) I248T possibly damaging Het
Clu G C 14: 66,208,771 (GRCm39) probably benign Het
Cnnm3 T C 1: 36,559,603 (GRCm39) V514A probably damaging Het
Cntd1 A T 11: 101,176,577 (GRCm39) I225F probably damaging Het
Col20a1 T C 2: 180,634,376 (GRCm39) probably null Het
Ctnnal1 A G 4: 56,813,849 (GRCm39) V640A probably benign Het
Cul4a A G 8: 13,190,278 (GRCm39) T572A probably benign Het
Dmp1 A T 5: 104,360,788 (GRCm39) N488I probably damaging Het
Dnah14 G A 1: 181,478,767 (GRCm39) probably null Het
Dst T C 1: 34,232,265 (GRCm39) L3464P probably damaging Het
Fnbp4 C T 2: 90,575,879 (GRCm39) P27S unknown Het
Fpr-rs3 A T 17: 20,844,230 (GRCm39) F304I probably damaging Het
Gm13941 T C 2: 110,928,734 (GRCm39) Q108R unknown Het
Hcn3 C T 3: 89,058,240 (GRCm39) A339T possibly damaging Het
Inpp5f A G 7: 128,279,780 (GRCm39) D460G probably damaging Het
Ism2 T C 12: 87,329,145 (GRCm39) E253G possibly damaging Het
Klrg1 T C 6: 122,248,431 (GRCm39) N156S probably damaging Het
Ksr2 A G 5: 117,552,907 (GRCm39) N5S probably benign Het
Lrrc7 T G 3: 157,891,063 (GRCm39) E368A probably damaging Het
Ly9 G C 1: 171,424,105 (GRCm39) S482C probably damaging Het
Map3k1 T C 13: 111,905,975 (GRCm39) D289G probably damaging Het
Mcub T C 3: 129,712,357 (GRCm39) T173A probably benign Het
Mup16 T C 4: 61,437,177 (GRCm39) E48G probably damaging Het
Naf1 C T 8: 67,313,680 (GRCm39) S24L possibly damaging Het
Ncoa6 A G 2: 155,237,736 (GRCm39) S2024P probably damaging Het
Nop56 C A 2: 130,119,807 (GRCm39) Q83K probably damaging Het
Nt5e T C 9: 88,245,524 (GRCm39) Y265H probably damaging Het
Odad1 G T 7: 45,597,940 (GRCm39) V617F probably benign Het
Or4a27 A G 2: 88,559,016 (GRCm39) V309A probably benign Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or5w8 C T 2: 87,688,367 (GRCm39) P283S probably damaging Het
Oxct2a T A 4: 123,217,220 (GRCm39) K54* probably null Het
Oxct2b G T 4: 123,010,367 (GRCm39) D96Y probably benign Het
Pisd A G 5: 32,922,191 (GRCm39) Y250H probably damaging Het
Plekhm1 G T 11: 103,257,720 (GRCm39) N1071K probably benign Het
Prr11 G A 11: 86,989,564 (GRCm39) T269I possibly damaging Het
Ptpn4 T A 1: 119,649,684 (GRCm39) H304L probably damaging Het
Rrp1b A G 17: 32,275,601 (GRCm39) K383E possibly damaging Het
Sel1l2 C A 2: 140,087,274 (GRCm39) A466S probably damaging Het
Slc9a4 A G 1: 40,619,844 (GRCm39) I57V probably benign Het
Spag9 A G 11: 93,977,137 (GRCm39) E81G probably damaging Het
Tbr1 A G 2: 61,636,631 (GRCm39) probably benign Het
Tnrc6c A G 11: 117,613,567 (GRCm39) D735G probably damaging Het
Tspan17 A T 13: 54,943,429 (GRCm39) probably null Het
Tyw5 T C 1: 57,430,658 (GRCm39) K175R probably damaging Het
Ube2o A C 11: 116,439,684 (GRCm39) I162R probably null Het
Ubr1 G T 2: 120,711,520 (GRCm39) T1458K probably benign Het
Vmn2r16 A T 5: 109,478,344 (GRCm39) Q33L probably benign Het
Zfp1007 G A 5: 109,823,885 (GRCm39) P522S possibly damaging Het
Zfp799 A G 17: 33,039,552 (GRCm39) L238P probably damaging Het
Other mutations in D16Ertd472e
AlleleSourceChrCoordTypePredicted EffectPPH Score
F5426:D16Ertd472e UTSW 16 78,344,889 (GRCm39) missense probably damaging 0.98
R0360:D16Ertd472e UTSW 16 78,344,773 (GRCm39) missense probably benign 0.01
R1635:D16Ertd472e UTSW 16 78,343,392 (GRCm39) critical splice donor site probably null
R2215:D16Ertd472e UTSW 16 78,342,155 (GRCm39) missense probably benign 0.02
R4044:D16Ertd472e UTSW 16 78,372,894 (GRCm39) missense probably damaging 1.00
R4657:D16Ertd472e UTSW 16 78,344,814 (GRCm39) missense probably damaging 1.00
R4943:D16Ertd472e UTSW 16 78,372,877 (GRCm39) missense probably damaging 1.00
R6170:D16Ertd472e UTSW 16 78,342,155 (GRCm39) missense probably benign 0.02
R7208:D16Ertd472e UTSW 16 78,372,814 (GRCm39) missense probably damaging 0.99
R7390:D16Ertd472e UTSW 16 78,344,576 (GRCm39) missense probably benign 0.03
R7581:D16Ertd472e UTSW 16 78,343,445 (GRCm39) missense possibly damaging 0.63
R8969:D16Ertd472e UTSW 16 78,344,682 (GRCm39) missense probably damaging 1.00
R9408:D16Ertd472e UTSW 16 78,344,646 (GRCm39) missense probably benign 0.00
R9453:D16Ertd472e UTSW 16 78,342,052 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTTTGCAAGCACAACAACC -3'
(R):5'- TAGGCTCAGAAGGAAGCATTC -3'

Sequencing Primer
(F):5'- CATAAAAATGGACCATGACTTCCTTC -3'
(R):5'- AAATGACTTGATGCGTTGTCCC -3'
Posted On 2018-05-04