Incidental Mutation 'R5848:D7Ertd443e'
ID 453718
Institutional Source Beutler Lab
Gene Symbol D7Ertd443e
Ensembl Gene ENSMUSG00000030994
Gene Name DNA segment, Chr 7, ERATO Doi 443, expressed
Synonyms 4933400E14Rik
MMRRC Submission 043225-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5848 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 133867508-134102889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133951451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 27 (I27T)
Ref Sequence ENSEMBL: ENSMUSP00000134585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000172947] [ENSMUST00000173195] [ENSMUST00000173754] [ENSMUST00000174700]
AlphaFold D2J0Y4
Predicted Effect possibly damaging
Transcript: ENSMUST00000094002
AA Change: I27T

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: I27T

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 probably benign
Transcript: ENSMUST00000172947
AA Change: I74T

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: I74T

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: I27T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000173754
AA Change: I27T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Aadacl4 T A 4: 144,344,428 (GRCm39) M68K probably benign Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Cdcp1 T A 9: 123,012,770 (GRCm39) H259L possibly damaging Het
Ckap4 T C 10: 84,369,354 (GRCm39) Q126R probably benign Het
Clec18a C T 8: 111,802,093 (GRCm39) V299I probably benign Het
Dlg2 T G 7: 92,093,735 (GRCm39) D726E probably benign Het
Dnah8 T C 17: 30,947,165 (GRCm39) I1856T possibly damaging Het
Espl1 G A 15: 102,231,011 (GRCm39) V1837I probably benign Het
Fanca G T 8: 124,021,792 (GRCm39) probably benign Het
Fer1l5 A G 1: 36,428,016 (GRCm39) T437A probably benign Het
Gm10644 C A 8: 84,660,668 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,340 (GRCm39) S635G probably benign Het
Map3k12 A G 15: 102,412,670 (GRCm39) V234A possibly damaging Het
Mks1 A G 11: 87,747,696 (GRCm39) N193S probably benign Het
Mmp11 T C 10: 75,763,223 (GRCm39) E151G probably damaging Het
Napg A G 18: 63,127,440 (GRCm39) R265G possibly damaging Het
Odad2 T A 18: 7,268,507 (GRCm39) probably null Het
Or5e1 T A 7: 108,354,781 (GRCm39) C239* probably null Het
Or6e1 A G 14: 54,520,022 (GRCm39) F110S possibly damaging Het
P3r3urf T C 4: 116,030,812 (GRCm39) I72T probably damaging Het
Pcdha7 G T 18: 37,108,136 (GRCm39) C387F probably damaging Het
Pcdhb3 G T 18: 37,434,700 (GRCm39) R222L probably benign Het
Phf2 A G 13: 48,973,546 (GRCm39) M373T unknown Het
Plekha7 T C 7: 115,739,634 (GRCm39) T636A probably damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rnf6 G A 5: 146,147,959 (GRCm39) P353L probably benign Het
Sel1l3 A C 5: 53,342,150 (GRCm39) L357V possibly damaging Het
Sh3rf3 T A 10: 58,819,975 (GRCm39) M262K possibly damaging Het
Sorcs3 A T 19: 48,776,950 (GRCm39) H994L probably damaging Het
Thsd7a A T 6: 12,503,922 (GRCm39) C411S probably damaging Het
Ttn T C 2: 76,593,682 (GRCm39) K20653E probably damaging Het
Ttn A C 2: 76,708,908 (GRCm39) probably null Het
Ttn A G 2: 76,611,264 (GRCm39) W15677R probably damaging Het
Ubr2 T C 17: 47,267,581 (GRCm39) M1049V possibly 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
R5123:D7Ertd443e UTSW 7 133,951,397 (GRCm39) splice site probably null
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
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'- TAGACGAGAAACCGCTGTGG -3'
(R):5'- GCTCCTCATAGAGTATCCCCATG -3'

Sequencing Primer
(F):5'- GGAACCTTTGCCTAGATTGTCC -3'
(R):5'- GACCTGTAAGAGTTCACTACCTG -3'
Posted On 2017-02-10