Incidental Mutation 'R2215:D16Ertd472e'
ID 241119
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 040217-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2215 (G1)
Quality Score 222
Status Validated
Chromosome 16
Chromosomal Location 78337224-78373576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78342155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 242 (T242A)
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 benign
Transcript: ENSMUST00000114218
AA Change: T242A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109856
Gene: ENSMUSG00000022864
AA Change: T242A

DomainStartEndE-ValueType
Pfam:EURL 1 284 2.6e-175 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114219
AA Change: T242A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109857
Gene: ENSMUSG00000022864
AA Change: T242A

DomainStartEndE-ValueType
Pfam:EURL 1 284 1.7e-164 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114220
AA Change: T242A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109858
Gene: ENSMUSG00000022864
AA Change: T242A

DomainStartEndE-ValueType
Pfam:EURL 1 284 1.7e-164 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231272
Predicted Effect probably benign
Transcript: ENSMUST00000231973
AA Change: T242A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000232052
AA Change: T242A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232329
Predicted Effect probably benign
Transcript: ENSMUST00000232528
Meta Mutation Damage Score 0.0616 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,254,619 (GRCm39) S1899T probably damaging Het
Accs G T 2: 93,672,243 (GRCm39) N208K probably benign Het
Actn4 C A 7: 28,618,178 (GRCm39) V22L possibly damaging Het
Adam21 A G 12: 81,607,064 (GRCm39) S233P probably damaging Het
Adrm1b G A 3: 92,335,730 (GRCm39) A324V probably damaging Het
Agmat C T 4: 141,476,899 (GRCm39) R102C probably benign Het
Akap8l T C 17: 32,540,569 (GRCm39) E608G possibly damaging Het
Arap2 T C 5: 62,834,519 (GRCm39) I788V probably damaging Het
Arhgef12 G T 9: 42,917,167 (GRCm39) H391N probably damaging Het
Arhgef28 G T 13: 98,187,529 (GRCm39) H255Q possibly damaging Het
Baz1a G A 12: 55,022,154 (GRCm39) R43* probably null Het
Bcas3 T C 11: 85,692,769 (GRCm39) S862P probably damaging Het
Blm A T 7: 80,149,595 (GRCm39) H671Q possibly damaging Het
Bmp8a C T 4: 123,218,911 (GRCm39) V166I probably benign Het
Cep120 G T 18: 53,860,707 (GRCm39) P241Q probably damaging Het
Col14a1 G A 15: 55,244,238 (GRCm39) G437E unknown Het
Cyp2a5 T C 7: 26,539,900 (GRCm39) L3S probably damaging Het
Dach1 A G 14: 98,405,917 (GRCm39) probably null Het
Ddx20 A T 3: 105,587,656 (GRCm39) probably benign Het
Eif4enif1 A G 11: 3,177,476 (GRCm39) S185G probably damaging Het
Ep400 A T 5: 110,841,421 (GRCm39) probably benign Het
Fam117b T A 1: 60,008,219 (GRCm39) I351K probably damaging Het
Fbxo31 T C 8: 122,293,050 (GRCm39) I112V probably benign Het
Galntl5 A T 5: 25,403,476 (GRCm39) N149I probably damaging Het
Gja8 A T 3: 96,827,218 (GRCm39) F148Y probably damaging Het
Gpatch1 A T 7: 34,993,252 (GRCm39) L531Q possibly damaging Het
Gprin1 G A 13: 54,888,046 (GRCm39) T76M probably damaging Het
Htr4 T A 18: 62,546,787 (GRCm39) C113* probably null Het
Igf1r T A 7: 67,814,982 (GRCm39) D294E probably benign Het
Kdm6b G A 11: 69,295,870 (GRCm39) P799L unknown Het
Lat A T 7: 125,967,137 (GRCm39) V139E probably damaging Het
Lrrc34 G A 3: 30,697,678 (GRCm39) R51C probably benign Het
Map3k1 A G 13: 111,892,322 (GRCm39) S978P probably benign Het
Masp1 T A 16: 23,271,271 (GRCm39) D659V possibly damaging Het
Mcam A T 9: 44,051,250 (GRCm39) R415* probably null Het
Mtmr10 A G 7: 63,987,403 (GRCm39) T648A probably benign Het
Myh2 T C 11: 67,082,563 (GRCm39) W1378R probably benign Het
Nipsnap2 A G 5: 129,816,649 (GRCm39) E64G probably damaging Het
Or4a68 T C 2: 89,270,381 (GRCm39) M81V probably benign Het
Or52n4b T C 7: 108,144,095 (GRCm39) L119P probably damaging Het
Or6c3 A T 10: 129,309,289 (GRCm39) I243F probably damaging Het
Or9s27 G A 1: 92,516,708 (GRCm39) V219I probably benign Het
Pcdhb8 T G 18: 37,490,127 (GRCm39) S602A probably damaging Het
Peg10 A T 6: 4,756,918 (GRCm39) probably benign Het
Pld1 A T 3: 28,132,542 (GRCm39) I577F probably benign Het
Plekhm1 A T 11: 103,267,811 (GRCm39) I720N probably damaging Het
Ppp2r1a A G 17: 21,182,005 (GRCm39) probably null Het
Retreg3 G T 11: 101,010,459 (GRCm39) Y49* probably null Het
Rrp36 T C 17: 46,983,746 (GRCm39) E22G possibly damaging Het
Sec14l2 C A 11: 4,059,169 (GRCm39) A167S probably damaging Het
Sema5b A G 16: 35,480,585 (GRCm39) T751A probably damaging Het
Smarcc1 C A 9: 110,066,907 (GRCm39) probably benign Het
Smox T C 2: 131,362,190 (GRCm39) probably null Het
Spats2l A T 1: 57,985,575 (GRCm39) T543S possibly damaging Het
Sppl2a G T 2: 126,769,754 (GRCm39) T34K probably benign Het
Svep1 T C 4: 58,138,602 (GRCm39) probably benign Het
Tet2 T A 3: 133,192,362 (GRCm39) I691F probably benign Het
Tnxb T C 17: 34,923,114 (GRCm39) Y2566H possibly damaging Het
Ttn T C 2: 76,570,853 (GRCm39) E26680G probably damaging Het
Txlna T C 4: 129,533,111 (GRCm39) E139G possibly damaging Het
Ubap2 T C 4: 41,196,483 (GRCm39) probably null Het
Ubr3 A T 2: 69,809,661 (GRCm39) probably null Het
Usp37 A C 1: 74,483,685 (GRCm39) F844V probably damaging Het
Usp6nl A G 2: 6,429,150 (GRCm39) D204G probably damaging Het
Vmn1r230 T C 17: 21,067,684 (GRCm39) I291T probably benign Het
Zfp229 T G 17: 21,965,258 (GRCm39) V496G possibly 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
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
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'- TCTCGGTCCATATGCTTAGCAG -3'
(R):5'- AGCATCGCAGTTTCCTCTATG -3'

Sequencing Primer
(F):5'- CTTAGCAGAGCAGTAGAGGATG -3'
(R):5'- CATCGCAGTTTCCTCTATGAAGTGAG -3'
Posted On 2014-10-15