Incidental Mutation 'R9535:D6Ertd527e'
ID 719646
Institutional Source Beutler Lab
Gene Symbol D6Ertd527e
Ensembl Gene ENSMUSG00000090891
Gene Name DNA segment, Chr 6, ERATO Doi 527, expressed
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R9535 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 87081729-87089979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 87088839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 334 (S334T)
Ref Sequence ENSEMBL: ENSMUSP00000145529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170124] [ENSMUST00000203747] [ENSMUST00000204927]
AlphaFold A0A0N4SWI3
Predicted Effect unknown
Transcript: ENSMUST00000170124
AA Change: S333T
SMART Domains Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: S333T

DomainStartEndE-ValueType
low complexity region 7 183 N/A INTRINSIC
internal_repeat_1 186 207 1.15e-33 PROSPERO
low complexity region 212 243 N/A INTRINSIC
internal_repeat_2 244 254 2.22e-11 PROSPERO
internal_repeat_2 260 270 2.22e-11 PROSPERO
low complexity region 272 294 N/A INTRINSIC
internal_repeat_1 297 318 1.15e-33 PROSPERO
low complexity region 323 459 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000203747
AA Change: S333T
SMART Domains Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: S333T

DomainStartEndE-ValueType
low complexity region 5 182 N/A INTRINSIC
internal_repeat_1 185 206 1.04e-33 PROSPERO
low complexity region 211 242 N/A INTRINSIC
internal_repeat_2 243 253 2.12e-11 PROSPERO
internal_repeat_2 259 269 2.12e-11 PROSPERO
low complexity region 271 293 N/A INTRINSIC
internal_repeat_1 296 317 1.04e-33 PROSPERO
low complexity region 322 458 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000204927
AA Change: S334T
SMART Domains Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: S334T

DomainStartEndE-ValueType
low complexity region 7 183 N/A INTRINSIC
internal_repeat_1 186 207 1.15e-33 PROSPERO
low complexity region 212 243 N/A INTRINSIC
internal_repeat_2 244 254 2.22e-11 PROSPERO
internal_repeat_2 260 270 2.22e-11 PROSPERO
low complexity region 272 294 N/A INTRINSIC
internal_repeat_1 297 318 1.15e-33 PROSPERO
low complexity region 323 459 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T A 17: 65,141,326 (GRCm39) R65S unknown Het
Abcc6 A G 7: 45,626,687 (GRCm39) S1457P probably damaging Het
Alad T C 4: 62,428,777 (GRCm39) D259G probably damaging Het
Atmin A G 8: 117,683,327 (GRCm39) D329G probably damaging Het
Ccdc121 A G 5: 31,644,954 (GRCm39) I236V probably benign Het
Cdkal1 A G 13: 30,034,007 (GRCm39) F29L probably benign Het
Chrng C T 1: 87,139,202 (GRCm39) P518S probably benign Het
Cpa1 G T 6: 30,641,847 (GRCm39) D224Y probably damaging Het
Dennd5b T C 6: 148,895,365 (GRCm39) I1222V probably benign Het
Dnm1 A T 2: 32,202,344 (GRCm39) S773T probably benign Het
Glmn A T 5: 107,706,368 (GRCm39) V419E possibly damaging Het
Il18rap T A 1: 40,586,990 (GRCm39) V424E probably benign Het
Kdm6b C A 11: 69,297,276 (GRCm39) G359* probably null Het
Krt84 A G 15: 101,438,016 (GRCm39) probably null Het
Lig4 C A 8: 10,022,325 (GRCm39) C485F probably damaging Het
Mpo T A 11: 87,690,794 (GRCm39) W411R probably damaging Het
Mpv17l A G 16: 13,759,149 (GRCm39) E8G probably benign Het
Mrps34 T C 17: 25,114,451 (GRCm39) Y104H probably benign Het
Muc15 T A 2: 110,562,007 (GRCm39) W148R probably damaging Het
Nrg1 T C 8: 32,439,995 (GRCm39) D134G probably benign Het
Prdm1 T C 10: 44,317,608 (GRCm39) Y405C probably damaging Het
Ptprb T C 10: 116,158,431 (GRCm39) S501P possibly damaging Het
Pwp1 C A 10: 85,723,958 (GRCm39) S486R possibly damaging Het
Rtl1 T C 12: 109,557,171 (GRCm39) E1556G probably damaging Het
Rtl1 T C 12: 109,561,698 (GRCm39) Q47R unknown Het
Siglece A G 7: 43,307,055 (GRCm39) F311L probably benign Het
Slc27a3 A G 3: 90,293,618 (GRCm39) L589P probably damaging Het
Spata31e2 A C 1: 26,721,232 (GRCm39) L1316* probably null Het
Synrg T A 11: 83,881,660 (GRCm39) M332K probably benign Het
Tasor2 T A 13: 3,623,559 (GRCm39) R2130S possibly damaging Het
Tecta T A 9: 42,270,759 (GRCm39) N1183I probably damaging Het
Tmed11 A G 5: 108,926,915 (GRCm39) I119T possibly damaging Het
Ttll3 C T 6: 113,389,834 (GRCm39) R740W probably damaging Het
Usp40 T C 1: 87,935,161 (GRCm39) probably benign Het
Vmn1r236 C T 17: 21,507,418 (GRCm39) H179Y probably benign Het
Wwtr1 T C 3: 57,384,825 (GRCm39) M298V possibly damaging Het
Xrcc4 T A 13: 90,089,118 (GRCm39) M280L probably benign Het
Other mutations in D6Ertd527e
AlleleSourceChrCoordTypePredicted EffectPPH Score
Bursting UTSW 6 87,088,299 (GRCm39) missense unknown
R0739_D6Ertd527e_618 UTSW 6 87,088,650 (GRCm39) missense unknown
sonenschein UTSW 6 87,088,506 (GRCm39) missense unknown
R0325:D6Ertd527e UTSW 6 87,088,277 (GRCm39) missense unknown
R0415:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R0607:D6Ertd527e UTSW 6 87,088,887 (GRCm39) missense unknown
R0739:D6Ertd527e UTSW 6 87,088,650 (GRCm39) missense unknown
R0992:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R0993:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R1193:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R1195:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R1195:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R1195:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R1196:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R1386:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R1413:D6Ertd527e UTSW 6 87,088,335 (GRCm39) missense unknown
R1485:D6Ertd527e UTSW 6 87,088,067 (GRCm39) missense unknown
R1560:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R1561:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R1568:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R2290:D6Ertd527e UTSW 6 87,088,527 (GRCm39) missense unknown
R4155:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R4461:D6Ertd527e UTSW 6 87,088,299 (GRCm39) missense unknown
R4836:D6Ertd527e UTSW 6 87,088,406 (GRCm39) small insertion probably benign
R5102:D6Ertd527e UTSW 6 87,088,793 (GRCm39) missense unknown
R5149:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R5150:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R5681:D6Ertd527e UTSW 6 87,088,188 (GRCm39) missense unknown
R6250:D6Ertd527e UTSW 6 87,088,194 (GRCm39) missense unknown
R6398:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R6441:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R7001:D6Ertd527e UTSW 6 87,088,194 (GRCm39) missense unknown
R7142:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R7297:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
R7821:D6Ertd527e UTSW 6 87,087,879 (GRCm39) missense unknown
R8047:D6Ertd527e UTSW 6 87,088,454 (GRCm39) missense unknown
R8827:D6Ertd527e UTSW 6 87,088,226 (GRCm39) missense unknown
R9038:D6Ertd527e UTSW 6 87,089,233 (GRCm39) makesense probably null
R9503:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9537:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9538:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9593:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9635:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9639:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9664:D6Ertd527e UTSW 6 87,088,908 (GRCm39) missense unknown
R9669:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9672:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9734:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9735:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9736:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9737:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9740:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9767:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9769:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9770:D6Ertd527e UTSW 6 87,088,839 (GRCm39) missense unknown
R9783:D6Ertd527e UTSW 6 87,088,602 (GRCm39) missense unknown
S24628:D6Ertd527e UTSW 6 87,088,506 (GRCm39) missense unknown
V1662:D6Ertd527e UTSW 6 87,088,874 (GRCm39) missense unknown
Predicted Primers
Posted On 2022-07-18