Incidental Mutation 'R4044:D16Ertd472e'
ID 314002
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 040967-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4044 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 78337224-78373576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78372894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 14 (D14E)
Ref Sequence ENSEMBL: ENSMUSP00000156192 (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: D14E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109856
Gene: ENSMUSG00000022864
AA Change: D14E

DomainStartEndE-ValueType
Pfam:EURL 1 284 2.6e-175 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114219
AA Change: D14E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109857
Gene: ENSMUSG00000022864
AA Change: D14E

DomainStartEndE-ValueType
Pfam:EURL 1 284 1.7e-164 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114220
AA Change: D14E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109858
Gene: ENSMUSG00000022864
AA Change: D14E

DomainStartEndE-ValueType
Pfam:EURL 1 284 1.7e-164 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000231272
AA Change: D14E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000231973
AA Change: D14E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000232052
AA Change: D14E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000232528
AA Change: D14E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.7537 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (45/45)
Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T A 9: 89,044,347 (GRCm39) noncoding transcript Het
Ada A T 2: 163,577,380 (GRCm39) I36N probably damaging Het
Armh3 A T 19: 45,808,763 (GRCm39) Y643N probably damaging Het
Atg7 T C 6: 114,678,939 (GRCm39) V384A probably benign Het
Ccl1 T A 11: 82,070,519 (GRCm39) I18L probably benign Het
Cep70 T A 9: 99,144,662 (GRCm39) C66S possibly damaging Het
Dnah9 T C 11: 66,024,461 (GRCm39) K278E probably benign Het
Dsg1a C A 18: 20,457,087 (GRCm39) N153K probably damaging Het
Galnt5 T A 2: 57,888,472 (GRCm39) I24N probably damaging Het
Grid1 A T 14: 35,172,358 (GRCm39) probably benign Het
Gtf2a1 T C 12: 91,542,441 (GRCm39) H47R probably benign Het
Igf1r A G 7: 67,839,810 (GRCm39) T706A possibly damaging Het
Itih4 A T 14: 30,616,995 (GRCm39) N517I probably damaging Het
Jam3 C A 9: 27,013,159 (GRCm39) probably null Het
Katnip A G 7: 125,467,913 (GRCm39) I1366V probably benign Het
Klk1b4 A G 7: 43,860,179 (GRCm39) M98V probably benign Het
Kndc1 A G 7: 139,504,044 (GRCm39) E1116G probably benign Het
Ksr2 C T 5: 117,693,127 (GRCm39) R192* probably null Het
L3mbtl4 T C 17: 69,084,909 (GRCm39) S607P possibly damaging Het
Map6 T C 7: 98,917,256 (GRCm39) C10R probably damaging Het
Myo3a A G 2: 22,467,712 (GRCm39) E322G probably damaging Het
Nell1 A G 7: 49,869,367 (GRCm39) N214S probably damaging Het
Npm3 T C 19: 45,736,692 (GRCm39) E149G possibly damaging Het
Or4k35 C T 2: 111,099,927 (GRCm39) V262I probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Orc3 G A 4: 34,587,055 (GRCm39) Q345* probably null Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pals1 G A 12: 78,871,613 (GRCm39) E398K probably benign Het
Pramel26 T A 4: 143,538,170 (GRCm39) N267I probably benign Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Het
Reln A T 5: 22,333,630 (GRCm39) V264D possibly damaging Het
Rpp40 A G 13: 36,082,549 (GRCm39) C275R probably benign Het
Scaf1 G A 7: 44,655,798 (GRCm39) probably benign Het
Sncaip A G 18: 53,040,475 (GRCm39) T890A probably benign Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Thada A G 17: 84,749,135 (GRCm39) V612A probably benign Het
Tsnaxip1 G A 8: 106,560,177 (GRCm39) probably null Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Vrtn T C 12: 84,695,844 (GRCm39) I198T probably damaging Het
Wnt9b T C 11: 103,622,824 (GRCm39) D193G probably damaging Het
Znrd2 T C 19: 5,780,431 (GRCm39) E189G probably damaging Het
Zswim5 A G 4: 116,843,899 (GRCm39) D979G 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
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
R6389:D16Ertd472e UTSW 16 78,342,071 (GRCm39) missense probably damaging 1.00
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'- TTTCCAGAAACCCTTAGCAGATC -3'
(R):5'- TATGGCGATGCTTGCCTGAC -3'

Sequencing Primer
(F):5'- AACCCTTAGCAGATCTTCACTTAGG -3'
(R):5'- CTGACAGGGCTGTTGCAAAC -3'
Posted On 2015-04-30