Incidental Mutation 'R4503:Coro6'
ID 331900
Institutional Source Beutler Lab
Gene Symbol Coro6
Ensembl Gene ENSMUSG00000020836
Gene Name coronin 6
Synonyms clipin E
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4503 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 77353237-77361310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77360272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 414 (E414G)
Ref Sequence ENSEMBL: ENSMUSP00000078703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021190] [ENSMUST00000037593] [ENSMUST00000052515] [ENSMUST00000079770] [ENSMUST00000092892] [ENSMUST00000102493] [ENSMUST00000108391] [ENSMUST00000145934]
AlphaFold Q920M5
Predicted Effect probably benign
Transcript: ENSMUST00000021190
AA Change: E454G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021190
Gene: ENSMUSG00000020836
AA Change: E454G

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 257 391 1.19e-91 SMART
low complexity region 414 429 N/A INTRINSIC
coiled coil region 430 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037593
SMART Domains Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907

DomainStartEndE-ValueType
ANK 13 43 3.16e2 SMART
ANK 47 76 2.85e-5 SMART
ANK 80 109 1.17e2 SMART
Pfam:GPCR_chapero_1 163 491 5.5e-111 PFAM
UIM 503 522 1.81e-1 SMART
low complexity region 552 580 N/A INTRINSIC
UIM 585 604 3.15e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052515
AA Change: E415G

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000056862
Gene: ENSMUSG00000020836
AA Change: E415G

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 217 351 1.19e-91 SMART
low complexity region 374 389 N/A INTRINSIC
coiled coil region 390 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079770
AA Change: E414G

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000078703
Gene: ENSMUSG00000020836
AA Change: E414G

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 217 351 1.19e-91 SMART
low complexity region 374 389 N/A INTRINSIC
coiled coil region 390 423 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092892
SMART Domains Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907

DomainStartEndE-ValueType
ANK 13 43 3.16e2 SMART
ANK 47 76 2.85e-5 SMART
ANK 80 109 1.17e2 SMART
Pfam:GPCR_chapero_1 163 490 3.2e-110 PFAM
UIM 503 522 1.81e-1 SMART
low complexity region 673 686 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102493
AA Change: E454G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836
AA Change: E454G

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 257 391 1.19e-91 SMART
low complexity region 414 429 N/A INTRINSIC
coiled coil region 430 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108391
AA Change: E454G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836
AA Change: E454G

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 257 391 1.19e-91 SMART
low complexity region 414 429 N/A INTRINSIC
coiled coil region 430 463 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143872
Predicted Effect probably benign
Transcript: ENSMUST00000127291
SMART Domains Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 1 120 9.7e-31 PFAM
low complexity region 121 133 N/A INTRINSIC
low complexity region 184 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145934
SMART Domains Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 2 276 9.7e-90 PFAM
UIM 288 307 1.81e-1 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,607,672 (GRCm39) L30P probably benign Het
Adamts20 T C 15: 94,277,631 (GRCm39) H277R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp13a5 G T 16: 29,112,346 (GRCm39) N598K probably benign Het
Ccdc171 A G 4: 83,782,560 (GRCm39) E1284G probably damaging Het
Cdk5 G A 5: 24,624,617 (GRCm39) T258M possibly damaging Het
Col3a1 T C 1: 45,387,837 (GRCm39) probably benign Het
Dst T C 1: 34,301,334 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
H2bc18 A T 3: 96,177,240 (GRCm39) K58M possibly damaging Het
Kank4 G A 4: 98,665,335 (GRCm39) S653L possibly damaging Het
Mapkbp1 T C 2: 119,846,187 (GRCm39) I451T probably damaging Het
Ncf2 A G 1: 152,709,529 (GRCm39) E342G probably benign Het
Or5k15 T C 16: 58,710,539 (GRCm39) I15V probably benign Het
Or6aa1 T A 7: 86,044,485 (GRCm39) T74S possibly damaging Het
Pds5b T C 5: 150,652,399 (GRCm39) L222P probably damaging Het
Rpl5 T C 5: 108,052,723 (GRCm39) F223S possibly damaging Het
Sacs A G 14: 61,445,052 (GRCm39) N2366S probably damaging Het
Sall2 T C 14: 52,550,916 (GRCm39) M758V probably benign Het
Sh3tc2 A G 18: 62,107,694 (GRCm39) E235G probably damaging Het
Slc49a4 T C 16: 35,539,787 (GRCm39) M345V probably benign Het
Smad2 T A 18: 76,435,663 (GRCm39) S419T probably benign Het
Sprr3 T C 3: 92,364,683 (GRCm39) I54V possibly damaging Het
Tbck A G 3: 132,456,981 (GRCm39) T632A probably benign Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Tmem178 C T 17: 81,293,693 (GRCm39) T162I probably benign Het
Zfp619 A G 7: 39,186,280 (GRCm39) H770R probably damaging Het
Zfp938 A G 10: 82,062,105 (GRCm39) S172P possibly damaging Het
Other mutations in Coro6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Coro6 APN 11 77,359,291 (GRCm39) missense probably damaging 1.00
IGL01086:Coro6 APN 11 77,357,374 (GRCm39) nonsense probably null
IGL03184:Coro6 APN 11 77,354,779 (GRCm39) missense probably damaging 1.00
R0365:Coro6 UTSW 11 77,354,916 (GRCm39) missense probably benign 0.28
R1712:Coro6 UTSW 11 77,360,293 (GRCm39) missense probably benign 0.19
R1738:Coro6 UTSW 11 77,360,251 (GRCm39) missense probably benign 0.02
R2900:Coro6 UTSW 11 77,358,639 (GRCm39) missense probably benign
R3081:Coro6 UTSW 11 77,359,738 (GRCm39) missense probably damaging 1.00
R3700:Coro6 UTSW 11 77,358,129 (GRCm39) missense probably damaging 1.00
R4740:Coro6 UTSW 11 77,360,025 (GRCm39) missense possibly damaging 0.59
R4749:Coro6 UTSW 11 77,359,974 (GRCm39) missense probably damaging 1.00
R5501:Coro6 UTSW 11 77,358,622 (GRCm39) missense probably damaging 1.00
R5996:Coro6 UTSW 11 77,357,322 (GRCm39) missense probably benign 0.02
R6590:Coro6 UTSW 11 77,356,606 (GRCm39) missense probably benign 0.31
R6619:Coro6 UTSW 11 77,357,030 (GRCm39) missense possibly damaging 0.85
R6690:Coro6 UTSW 11 77,356,606 (GRCm39) missense probably benign 0.31
R7052:Coro6 UTSW 11 77,357,056 (GRCm39) missense probably benign 0.16
R7207:Coro6 UTSW 11 77,358,089 (GRCm39) missense possibly damaging 0.46
R7775:Coro6 UTSW 11 77,356,599 (GRCm39) missense probably benign 0.00
R8743:Coro6 UTSW 11 77,357,265 (GRCm39) missense probably damaging 0.98
R8865:Coro6 UTSW 11 77,359,917 (GRCm39) missense probably damaging 1.00
R9169:Coro6 UTSW 11 77,359,329 (GRCm39) missense probably damaging 1.00
R9384:Coro6 UTSW 11 77,360,218 (GRCm39) missense probably benign 0.32
X0064:Coro6 UTSW 11 77,359,434 (GRCm39) critical splice donor site probably null
Z1176:Coro6 UTSW 11 77,358,691 (GRCm39) frame shift probably null
Z1177:Coro6 UTSW 11 77,359,935 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTGTCGGTAAGCTCTGAG -3'
(R):5'- TTAAGATCTGTGTGTTCAGGCCTC -3'

Sequencing Primer
(F):5'- GGTAAGCTCTGAGATCTGACCAC -3'
(R):5'- AGATGGAGTTTCTTTTCTGATCCC -3'
Posted On 2015-07-21