Incidental Mutation 'R5123:D7Ertd443e'
ID 393401
Institutional Source Beutler Lab
Gene Symbol D7Ertd443e
Ensembl Gene ENSMUSG00000030994
Gene Name DNA segment, Chr 7, ERATO Doi 443, expressed
Synonyms 4933400E14Rik
MMRRC Submission 042711-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5123 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 133867508-134102889 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 133951397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000172947] [ENSMUST00000173195] [ENSMUST00000173754] [ENSMUST00000174700]
AlphaFold D2J0Y4
Predicted Effect possibly damaging
Transcript: ENSMUST00000094002
AA Change: V45A

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: V45A

DomainStartEndE-ValueType
low complexity region 179 192 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
low complexity region 279 292 N/A INTRINSIC
low complexity region 396 410 N/A INTRINSIC
low complexity region 478 494 N/A INTRINSIC
Pfam:ALMS_motif 511 644 3.7e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172947
AA Change: V92A

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: V92A

DomainStartEndE-ValueType
low complexity region 226 239 N/A INTRINSIC
low complexity region 285 296 N/A INTRINSIC
low complexity region 326 339 N/A INTRINSIC
low complexity region 443 457 N/A INTRINSIC
low complexity region 525 541 N/A INTRINSIC
Pfam:ALMS_motif 559 689 1.2e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173195
AA Change: V45A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably null
Transcript: ENSMUST00000173754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174271
Predicted Effect probably benign
Transcript: ENSMUST00000174700
SMART Domains Protein: ENSMUSP00000134411
Gene: ENSMUSG00000030994

DomainStartEndE-ValueType
Pfam:ALMS_motif 25 98 2.3e-12 PFAM
Meta Mutation Damage Score 0.4340 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,603,434 (GRCm39) G542D possibly damaging Het
Adh6b A G 3: 138,063,450 (GRCm39) Y343C probably damaging Het
Adsl T A 15: 80,836,495 (GRCm39) probably null Het
Apob T A 12: 8,057,630 (GRCm39) probably null Het
Atp6ap1l T A 13: 91,047,017 (GRCm39) probably benign Het
Cacnb3 A G 15: 98,537,750 (GRCm39) D74G probably damaging Het
Cfap251 A G 5: 123,411,696 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,512,104 (GRCm39) D544V probably damaging Het
Col3a1 G A 1: 45,372,756 (GRCm39) probably benign Het
Dscam T C 16: 96,573,637 (GRCm39) D775G probably damaging Het
Eif2b3 T A 4: 116,879,408 (GRCm39) M16K probably damaging Het
Eml5 T C 12: 98,840,771 (GRCm39) Y281C probably damaging Het
Epha2 T A 4: 141,036,176 (GRCm39) L204Q possibly damaging Het
Filip1l A C 16: 57,391,025 (GRCm39) I538L possibly damaging Het
Gcnt2 T A 13: 41,071,831 (GRCm39) V158D probably damaging Het
Gnaq A G 19: 16,309,449 (GRCm39) N162S probably benign Het
Haus5 A T 7: 30,353,651 (GRCm39) N575K probably benign Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Igsf5 A G 16: 96,174,279 (GRCm39) D103G probably damaging Het
Myo10 A G 15: 25,726,569 (GRCm39) D297G possibly damaging Het
Net1 C T 13: 3,936,623 (GRCm39) R314H probably damaging Het
Or4b1c C A 2: 90,126,512 (GRCm39) R231L probably benign Het
Or4k51 T A 2: 111,584,897 (GRCm39) V101D probably damaging Het
Pcsk4 C A 10: 80,157,979 (GRCm39) Q586H probably null Het
Pramel11 A T 4: 143,623,706 (GRCm39) M156K probably benign Het
Prss1 A G 6: 41,440,131 (GRCm39) D156G possibly damaging Het
Rnf133 A T 6: 23,649,259 (GRCm39) N266K probably damaging Het
Setd2 G T 9: 110,446,595 (GRCm39) A2482S possibly damaging Het
Sgo2a A T 1: 58,055,726 (GRCm39) S637C probably damaging Het
Slc2a5 C A 4: 150,224,262 (GRCm39) S290* probably null Het
Spata6 T G 4: 111,625,992 (GRCm39) H120Q possibly damaging Het
Stk11 G A 10: 79,963,775 (GRCm39) V194I probably damaging Het
Tkt T C 14: 30,287,603 (GRCm39) V199A probably benign Het
Traf3 G A 12: 111,209,952 (GRCm39) V183M possibly damaging Het
Trappc11 T C 8: 47,966,437 (GRCm39) Y483C probably damaging Het
Trappc9 T C 15: 72,785,215 (GRCm39) probably benign Het
Trim59 T C 3: 68,945,067 (GRCm39) H91R probably benign Het
Ttc21a A G 9: 119,781,278 (GRCm39) S484G probably benign Het
Usp13 A T 3: 32,969,947 (GRCm39) H691L probably benign Het
Vmn1r238 T C 18: 3,123,243 (GRCm39) Y57C probably benign Het
Vmn2r111 T A 17: 22,790,124 (GRCm39) Q294L possibly damaging Het
Vmn2r17 A G 5: 109,575,774 (GRCm39) D215G possibly damaging Het
Zfp280b A G 10: 75,875,183 (GRCm39) D354G probably benign Het
Zfp607a A G 7: 27,578,523 (GRCm39) H531R probably damaging Het
Zfp74 A T 7: 29,634,158 (GRCm39) C517S probably damaging Het
Other mutations in D7Ertd443e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:D7Ertd443e APN 7 133,951,129 (GRCm39) missense possibly damaging 0.56
R0369:D7Ertd443e UTSW 7 133,899,866 (GRCm39) missense possibly damaging 0.56
R0501:D7Ertd443e UTSW 7 133,896,701 (GRCm39) missense probably damaging 1.00
R1073:D7Ertd443e UTSW 7 133,871,947 (GRCm39) missense probably damaging 1.00
R1083:D7Ertd443e UTSW 7 133,950,663 (GRCm39) nonsense probably null
R1744:D7Ertd443e UTSW 7 133,951,142 (GRCm39) missense probably benign 0.00
R1801:D7Ertd443e UTSW 7 133,871,941 (GRCm39) missense probably damaging 1.00
R1807:D7Ertd443e UTSW 7 133,895,034 (GRCm39) missense probably null 1.00
R2050:D7Ertd443e UTSW 7 133,868,527 (GRCm39) missense probably damaging 1.00
R2273:D7Ertd443e UTSW 7 133,871,930 (GRCm39) missense probably damaging 1.00
R2274:D7Ertd443e UTSW 7 133,871,930 (GRCm39) missense probably damaging 1.00
R2504:D7Ertd443e UTSW 7 133,951,208 (GRCm39) splice site probably null
R3699:D7Ertd443e UTSW 7 133,950,797 (GRCm39) missense probably damaging 1.00
R4348:D7Ertd443e UTSW 7 133,950,682 (GRCm39) frame shift probably null
R4516:D7Ertd443e UTSW 7 133,895,057 (GRCm39) missense probably damaging 1.00
R5440:D7Ertd443e UTSW 7 133,951,004 (GRCm39) missense probably damaging 0.96
R5555:D7Ertd443e UTSW 7 133,951,320 (GRCm39) missense probably benign 0.00
R5711:D7Ertd443e UTSW 7 133,951,110 (GRCm39) missense probably benign 0.43
R5848:D7Ertd443e UTSW 7 133,951,451 (GRCm39) missense possibly damaging 0.92
R6049:D7Ertd443e UTSW 7 133,899,961 (GRCm39) missense probably benign 0.01
R6266:D7Ertd443e UTSW 7 133,951,514 (GRCm39) missense probably damaging 1.00
R6408:D7Ertd443e UTSW 7 133,951,440 (GRCm39) missense probably benign 0.27
R6939:D7Ertd443e UTSW 7 133,966,208 (GRCm39) splice site probably null
R7195:D7Ertd443e UTSW 7 133,896,851 (GRCm39) missense probably damaging 1.00
R7352:D7Ertd443e UTSW 7 133,951,123 (GRCm39) missense probably benign 0.03
R7737:D7Ertd443e UTSW 7 133,871,930 (GRCm39) missense probably damaging 1.00
R7843:D7Ertd443e UTSW 7 133,950,824 (GRCm39) missense possibly damaging 0.93
R7845:D7Ertd443e UTSW 7 133,871,977 (GRCm39) missense probably damaging 1.00
R8346:D7Ertd443e UTSW 7 133,950,485 (GRCm39) missense possibly damaging 0.63
R9120:D7Ertd443e UTSW 7 133,871,986 (GRCm39) missense probably damaging 1.00
R9166:D7Ertd443e UTSW 7 133,900,048 (GRCm39) missense probably benign 0.01
R9773:D7Ertd443e UTSW 7 133,959,803 (GRCm39) missense probably benign 0.00
Z1088:D7Ertd443e UTSW 7 133,896,711 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGGCTTTGCACTTGGGACAC -3'
(R):5'- TCTATTTTCTAGGAGACACTGGC -3'

Sequencing Primer
(F):5'- GTGGGTCCCTAAAAGTGTCCCATAC -3'
(R):5'- TTTCTAGGAGACACTGGCATCACAG -3'
Posted On 2016-06-15