Incidental Mutation 'R6690:Coro6'
ID 530388
Institutional Source Beutler Lab
Gene Symbol Coro6
Ensembl Gene ENSMUSG00000020836
Gene Name coronin 6
Synonyms clipin E
MMRRC Submission 044808-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6690 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 77353237-77361310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77356606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 105 (T105A)
Ref Sequence ENSEMBL: ENSMUSP00000104028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021190] [ENSMUST00000037593] [ENSMUST00000052515] [ENSMUST00000079770] [ENSMUST00000092892] [ENSMUST00000102493] [ENSMUST00000108391] [ENSMUST00000130255] [ENSMUST00000145934]
AlphaFold Q920M5
Predicted Effect probably benign
Transcript: ENSMUST00000021190
AA Change: T105A

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021190
Gene: ENSMUSG00000020836
AA Change: T105A

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: T105A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000056862
Gene: ENSMUSG00000020836
AA Change: T105A

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: T105A

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000078703
Gene: ENSMUSG00000020836
AA Change: T105A

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: T105A

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836
AA Change: T105A

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: T105A

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836
AA Change: T105A

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: ENSMUST00000130255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143872
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
Meta Mutation Damage Score 0.2108 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,115,062 (GRCm39) G628D probably damaging Het
Ahnak G T 19: 8,986,945 (GRCm39) G2743V probably benign Het
Akr1c14 A T 13: 4,113,713 (GRCm39) T82S possibly damaging Het
Ccdc7b A G 8: 129,904,700 (GRCm39) T113A probably benign Het
Cep152 A T 2: 125,406,290 (GRCm39) L1414Q probably damaging Het
Chd8 T C 14: 52,464,694 (GRCm39) E658G possibly damaging Het
Clca3a1 G C 3: 144,719,644 (GRCm39) A442G probably damaging Het
Cux1 A G 5: 136,368,971 (GRCm39) I232T probably damaging Het
Dmrt1 A G 19: 25,523,449 (GRCm39) T267A probably benign Het
Fam149a G T 8: 45,802,071 (GRCm39) A387E probably damaging Het
Fat4 G A 3: 39,037,688 (GRCm39) G3780D probably damaging Het
Igf2r A T 17: 12,910,824 (GRCm39) L1998* probably null Het
Iqcf6 C T 9: 106,504,501 (GRCm39) T55I possibly damaging Het
Mterf3 G A 13: 67,065,110 (GRCm39) L264F probably damaging Het
Or10k2 G T 8: 84,267,904 (GRCm39) V44L probably benign Het
Or8g32 A G 9: 39,305,845 (GRCm39) I253V probably benign Het
Pcdhgb7 A T 18: 37,886,050 (GRCm39) I407F probably benign Het
Pip4k2b T C 11: 97,620,393 (GRCm39) D114G probably damaging Het
Plbd1 G T 6: 136,612,598 (GRCm39) N198K probably damaging Het
Prkcb T C 7: 121,888,737 (GRCm39) I57T probably damaging Het
Ralgapa1 C T 12: 55,769,558 (GRCm39) probably null Het
Slc26a8 A G 17: 28,863,629 (GRCm39) I710T possibly damaging Het
Smc2 A T 4: 52,449,375 (GRCm39) I179L probably benign Het
Tmub2 C T 11: 102,178,345 (GRCm39) H83Y probably damaging Het
Trip11 C A 12: 101,851,710 (GRCm39) D785Y possibly damaging Het
Vill A G 9: 118,890,975 (GRCm39) T194A probably benign Het
Vmn2r59 T C 7: 41,695,890 (GRCm39) D174G probably 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
R4503:Coro6 UTSW 11 77,360,272 (GRCm39) missense probably benign 0.31
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
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'- GGTAAACAAATCTACTGCCCACTTC -3'
(R):5'- AGGGCCCCAAGTTATCCATG -3'

Sequencing Primer
(F):5'- TACTTAACAAGTGCTGGGCC -3'
(R):5'- CCATGGTTATAATTAGTTCTAGGCAG -3'
Posted On 2018-08-01