Incidental Mutation 'R7001:D6Ertd527e'
ID 544538
Institutional Source Beutler Lab
Gene Symbol D6Ertd527e
Ensembl Gene ENSMUSG00000090891
Gene Name DNA segment, Chr 6, ERATO Doi 527, expressed
Synonyms
MMRRC Submission 045106-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R7001 (G1)
Quality Score 107.008
Status Validated
Chromosome 6
Chromosomal Location 87081729-87089979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87088194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 119 (G119D)
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: G118D
SMART Domains Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: G118D

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 noncoding transcript
Transcript: ENSMUST00000203725
Predicted Effect unknown
Transcript: ENSMUST00000203747
AA Change: G118D
SMART Domains Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: G118D

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: G119D
SMART Domains Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: G119D

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 noncoding transcript
Transcript: ENSMUST00000205257
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,771,272 (GRCm39) Q154K probably benign Het
Aldh6a1 T G 12: 84,488,662 (GRCm39) T75P probably damaging Het
Ank2 T A 3: 126,871,230 (GRCm39) H98L probably damaging Het
Ankib1 A G 5: 3,744,781 (GRCm39) F800S probably benign Het
Arhgap10 A T 8: 78,091,717 (GRCm39) M434K possibly damaging Het
Cap1 A T 4: 122,758,408 (GRCm39) F257L probably benign Het
Cdt1 T A 8: 123,299,249 (GRCm39) H510Q probably damaging Het
Clca3b A C 3: 144,533,733 (GRCm39) D547E possibly damaging Het
Col24a1 T C 3: 145,004,627 (GRCm39) V35A probably benign Het
Cyp2j13 A T 4: 95,945,112 (GRCm39) N305K probably damaging Het
D3Ertd751e T A 3: 41,712,844 (GRCm39) probably null Het
Ddc T C 11: 11,774,870 (GRCm39) probably null Het
Dnah12 A T 14: 26,601,681 (GRCm39) Y3713F probably damaging Het
Dock8 T A 19: 25,077,041 (GRCm39) S504T probably benign Het
Farp2 T C 1: 93,547,906 (GRCm39) F941L possibly damaging Het
Farp2 A G 1: 93,547,952 (GRCm39) N956S possibly damaging Het
Fbxo3 T A 2: 103,881,569 (GRCm39) H300Q probably damaging Het
Fcgrt T C 7: 44,751,466 (GRCm39) T131A probably benign Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Frem1 T C 4: 82,904,798 (GRCm39) E890G probably benign Het
Fsip2 C A 2: 82,817,269 (GRCm39) P4334H probably damaging Het
Gcdh C A 8: 85,617,540 (GRCm39) V227L probably benign Het
Gm8267 A C 14: 44,960,385 (GRCm39) M120R possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Lasp1 T G 11: 97,697,659 (GRCm39) H26Q probably damaging Het
Lrrcc1 T A 3: 14,605,155 (GRCm39) I297N probably damaging Het
Map1b A T 13: 99,567,101 (GRCm39) N1873K unknown Het
Map2 A G 1: 66,454,646 (GRCm39) I1179V probably benign Het
Mtss1 A C 15: 58,820,183 (GRCm39) probably benign Het
Mtus2 A G 5: 148,214,438 (GRCm39) E28G probably damaging Het
Muc6 G A 7: 141,217,320 (GRCm39) T2386I probably damaging Het
Myo3a G T 2: 22,337,188 (GRCm39) V362L probably benign Het
N6amt1 G A 16: 87,151,180 (GRCm39) V14M probably benign Het
Nav1 A T 1: 135,382,349 (GRCm39) probably null Het
Nol6 A G 4: 41,121,279 (GRCm39) S326P probably benign Het
Olr1 T A 6: 129,465,074 (GRCm39) E100V probably damaging Het
Or52ab4 A G 7: 102,987,428 (GRCm39) S56G possibly damaging Het
Or8k37 A T 2: 86,469,495 (GRCm39) S186T probably benign Het
Otop3 T C 11: 115,230,479 (GRCm39) Y119H probably damaging Het
Prb1b C T 6: 132,289,527 (GRCm39) G99E unknown Het
Ryr2 A T 13: 11,809,491 (GRCm39) M778K probably damaging Het
Serpina3n G T 12: 104,375,184 (GRCm39) M85I probably benign Het
Serpine2 A G 1: 79,772,748 (GRCm39) F390L probably damaging Het
Sf3b1 A G 1: 55,040,205 (GRCm39) V591A probably damaging Het
Sf3b1 A G 1: 55,053,640 (GRCm39) probably null Het
Slc26a5 C T 5: 22,016,334 (GRCm39) V646I probably damaging Het
Slitrk3 T A 3: 72,957,942 (GRCm39) K277* probably null Het
Sv2c A G 13: 96,118,461 (GRCm39) S463P probably benign Het
Tbc1d4 G A 14: 101,696,185 (GRCm39) T858M probably benign Het
Tbx18 T A 9: 87,609,457 (GRCm39) I193F probably damaging Het
Tm6sf2 A C 8: 70,530,982 (GRCm39) D245A probably damaging Het
Unc119 T C 11: 78,239,380 (GRCm39) Y234H probably damaging Het
Wrn A T 8: 33,842,157 (GRCm39) S46T probably benign Het
Zfp729a A T 13: 67,768,468 (GRCm39) I587K probably benign Het
Zfp872 C A 9: 22,111,912 (GRCm39) H464N probably damaging 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
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
R9535: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 PCR Primer
(F):5'- GGTTGATCCAGAAGACATGTGTG -3'
(R):5'- TTGCTGATGTTGCCACTAGAGG -3'

Sequencing Primer
(F):5'- CCAGAAGACATGTGTGTGCTGC -3'
(R):5'- CCACTAGAGGGTTGGGGACTG -3'
Posted On 2019-05-13