Incidental Mutation 'R5440:D7Ertd443e'
ID 428584
Institutional Source Beutler Lab
Gene Symbol D7Ertd443e
Ensembl Gene ENSMUSG00000030994
Gene Name DNA segment, Chr 7, ERATO Doi 443, expressed
Synonyms 4933400E14Rik
MMRRC Submission 043005-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5440 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 133867508-134102889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133951004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 223 (T223I)
Ref Sequence ENSEMBL: ENSMUSP00000134479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000172947] [ENSMUST00000173195] [ENSMUST00000173754] [ENSMUST00000174700]
AlphaFold D2J0Y4
Predicted Effect probably damaging
Transcript: ENSMUST00000094002
AA Change: T176I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: T176I

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 damaging
Transcript: ENSMUST00000172947
AA Change: T223I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: T223I

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 probably benign
Transcript: ENSMUST00000173195
Predicted Effect probably benign
Transcript: ENSMUST00000173754
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G T 18: 34,354,213 (GRCm39) probably benign Het
Apol11b T A 15: 77,519,793 (GRCm39) K96* probably null Het
Arhgap35 C T 7: 16,296,849 (GRCm39) G739S probably damaging Het
Atp6v0a4 A C 6: 38,069,752 (GRCm39) F47V probably damaging Het
Bcl9 G A 3: 97,117,881 (GRCm39) P271L probably benign Het
Cd109 T C 9: 78,587,446 (GRCm39) probably null Het
Col12a1 T A 9: 79,521,645 (GRCm39) I2771F probably benign Het
Col6a1 A G 10: 76,559,288 (GRCm39) V116A probably damaging Het
Cpsf2 C G 12: 101,963,138 (GRCm39) L401V probably benign Het
Cwf19l2 G A 9: 3,475,549 (GRCm39) E829K probably damaging Het
Dtx4 G A 19: 12,469,681 (GRCm39) R149C probably damaging Het
Fam186b C T 15: 99,171,734 (GRCm39) A838T possibly damaging Het
Fzd4 G T 7: 89,057,326 (GRCm39) E458* probably null Het
Gm17669 C T 18: 67,695,526 (GRCm39) P24S possibly damaging Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Gucy2e T C 11: 69,114,472 (GRCm39) Y1019C probably damaging Het
Gzme T A 14: 56,355,910 (GRCm39) N134I possibly damaging Het
Havcr1 A T 11: 46,643,197 (GRCm39) Y39F probably damaging Het
Hint3 A T 10: 30,494,347 (GRCm39) M1K probably null Het
Hspa4l A G 3: 40,736,008 (GRCm39) K543R probably damaging Het
Ifna9 A G 4: 88,510,048 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lipo2 A G 19: 33,698,258 (GRCm39) I373T probably benign Het
Myo5c T A 9: 75,165,407 (GRCm39) I405N possibly damaging Het
Or10a49 T C 7: 108,467,833 (GRCm39) H176R probably damaging Het
P2rx1 A G 11: 72,899,329 (GRCm39) M108V probably benign Het
Pcsk2 T A 2: 143,388,463 (GRCm39) V18E probably benign Het
Pigr A T 1: 130,777,359 (GRCm39) probably null Het
Pkp1 A T 1: 135,810,230 (GRCm39) C447S probably benign Het
Prom1 T A 5: 44,215,988 (GRCm39) I96F probably benign Het
Prpf4b T C 13: 35,068,076 (GRCm39) probably benign Het
Ropn1 C A 16: 34,491,542 (GRCm39) D102E probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Sphk1 T G 11: 116,425,714 (GRCm39) V17G possibly damaging Het
Syngr1 A G 15: 79,982,219 (GRCm39) N2S probably benign Het
Syt9 T G 7: 107,101,330 (GRCm39) S359A possibly damaging Het
Terb1 T C 8: 105,215,131 (GRCm39) I282V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A T 2: 76,739,600 (GRCm39) D3646E probably benign Het
Ube2d1 A G 10: 71,091,682 (GRCm39) W141R probably damaging Het
Vmn2r41 T A 7: 8,141,362 (GRCm39) I701F probably damaging Het
Zfp770 T C 2: 114,026,596 (GRCm39) D491G probably benign 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
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'- TAACTGGTGGGAACTACAGCGG -3'
(R):5'- AGCCAAGGATGCTCTGTTCC -3'

Sequencing Primer
(F):5'- ACAGACCTGTGCATTTTGGG -3'
(R):5'- CCAAGGATGCTCTGTTCCAAGAG -3'
Posted On 2016-09-01