Incidental Mutation 'IGL01146:Ccdc186'
ID 53301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc186
Ensembl Gene ENSMUSG00000035173
Gene Name coiled-coil domain containing 186
Synonyms 1810028B20Rik, A630007B06Rik, Otg1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01146
Quality Score
Status
Chromosome 19
Chromosomal Location 56775913-56810622 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56797749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 274 (E274G)
Ref Sequence ENSEMBL: ENSMUSP00000113457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076085] [ENSMUST00000118592]
AlphaFold Q8C9S4
Predicted Effect probably damaging
Transcript: ENSMUST00000076085
AA Change: E274G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075454
Gene: ENSMUSG00000035173
AA Change: E274G

DomainStartEndE-ValueType
internal_repeat_1 7 104 8.63e-6 PROSPERO
internal_repeat_1 119 216 8.63e-6 PROSPERO
low complexity region 252 264 N/A INTRINSIC
low complexity region 426 447 N/A INTRINSIC
low complexity region 527 538 N/A INTRINSIC
low complexity region 619 631 N/A INTRINSIC
low complexity region 641 651 N/A INTRINSIC
low complexity region 656 670 N/A INTRINSIC
Blast:SPEC 671 799 1e-37 BLAST
coiled coil region 874 913 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118592
AA Change: E274G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113457
Gene: ENSMUSG00000035173
AA Change: E274G

DomainStartEndE-ValueType
internal_repeat_1 7 104 8.63e-6 PROSPERO
internal_repeat_1 119 216 8.63e-6 PROSPERO
low complexity region 252 264 N/A INTRINSIC
low complexity region 426 447 N/A INTRINSIC
low complexity region 527 538 N/A INTRINSIC
low complexity region 619 631 N/A INTRINSIC
low complexity region 641 651 N/A INTRINSIC
low complexity region 656 670 N/A INTRINSIC
Blast:SPEC 671 799 1e-37 BLAST
coiled coil region 874 913 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140184
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T C 6: 40,943,217 (GRCm39) I54T probably damaging Het
Acss2 T C 2: 155,403,957 (GRCm39) V701A possibly damaging Het
Adam6a A T 12: 113,507,840 (GRCm39) Y71F probably damaging Het
Arhgef37 A T 18: 61,651,081 (GRCm39) I148N possibly damaging Het
Bhlhe40 T C 6: 108,641,901 (GRCm39) S282P possibly damaging Het
Bmp2 A T 2: 133,403,220 (GRCm39) Q257L probably benign Het
C2cd4d A G 3: 94,271,770 (GRCm39) probably benign Het
Calcr T A 6: 3,700,144 (GRCm39) Y316F possibly damaging Het
Cdc34b G T 11: 94,633,420 (GRCm39) D207Y probably benign Het
Chst5 C T 8: 112,617,314 (GRCm39) C102Y probably damaging Het
Cnbd2 T A 2: 156,154,534 (GRCm39) probably benign Het
Dnaaf9 C T 2: 130,612,591 (GRCm39) probably null Het
Dnm1l T C 16: 16,132,189 (GRCm39) D549G probably benign Het
Gm4847 T A 1: 166,462,521 (GRCm39) D323V probably damaging Het
Gm9843 G A 16: 76,200,255 (GRCm39) noncoding transcript Het
Gopc A G 10: 52,234,963 (GRCm39) V120A probably benign Het
Kmt2c T G 5: 25,513,510 (GRCm39) M3095L probably damaging Het
Man1a T C 10: 53,783,615 (GRCm39) E629G possibly damaging Het
Pde4b T A 4: 102,112,460 (GRCm39) S12T possibly damaging Het
Phf2 A T 13: 48,973,083 (GRCm39) L391Q unknown Het
Phf8-ps A G 17: 33,284,357 (GRCm39) L815S possibly damaging Het
Plekha7 G A 7: 115,756,708 (GRCm39) probably benign Het
Pmpcb T A 5: 21,945,476 (GRCm39) probably benign Het
Poc1a T C 9: 106,182,503 (GRCm39) Y285H probably benign Het
Polr1e T C 4: 45,031,369 (GRCm39) L387S probably damaging Het
Prr9 A T 3: 92,030,504 (GRCm39) C45* probably null Het
Rnf157 T C 11: 116,240,912 (GRCm39) H393R probably benign Het
Rps6ka4 A G 19: 6,808,496 (GRCm39) F554L probably damaging Het
Sez6l A G 5: 112,576,275 (GRCm39) S861P probably damaging Het
Sh3tc2 G T 18: 62,122,582 (GRCm39) D448Y probably damaging Het
Smg6 T G 11: 74,821,254 (GRCm39) Y508* probably null Het
Sult6b2 C T 6: 142,750,034 (GRCm39) G28D probably benign Het
Traf2 C A 2: 25,414,931 (GRCm39) C303F probably benign Het
Other mutations in Ccdc186
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Ccdc186 APN 19 56,801,879 (GRCm39) missense probably benign 0.18
IGL00976:Ccdc186 APN 19 56,785,932 (GRCm39) missense probably damaging 1.00
IGL01316:Ccdc186 APN 19 56,801,845 (GRCm39) missense probably benign 0.01
IGL01627:Ccdc186 APN 19 56,780,452 (GRCm39) missense probably damaging 1.00
IGL02325:Ccdc186 APN 19 56,801,788 (GRCm39) missense probably benign 0.03
IGL02755:Ccdc186 APN 19 56,801,828 (GRCm39) missense probably benign 0.06
IGL02899:Ccdc186 APN 19 56,781,920 (GRCm39) missense probably benign 0.00
IGL03408:Ccdc186 APN 19 56,787,163 (GRCm39) missense probably benign 0.00
receding UTSW 19 56,788,561 (GRCm39) missense probably damaging 1.00
R1256:Ccdc186 UTSW 19 56,786,053 (GRCm39) missense probably benign 0.20
R1728:Ccdc186 UTSW 19 56,797,652 (GRCm39) missense probably benign 0.04
R1729:Ccdc186 UTSW 19 56,797,652 (GRCm39) missense probably benign 0.04
R1784:Ccdc186 UTSW 19 56,797,652 (GRCm39) missense probably benign 0.04
R1813:Ccdc186 UTSW 19 56,788,601 (GRCm39) missense probably benign 0.03
R1909:Ccdc186 UTSW 19 56,781,793 (GRCm39) missense probably damaging 1.00
R2110:Ccdc186 UTSW 19 56,788,574 (GRCm39) missense possibly damaging 0.80
R2319:Ccdc186 UTSW 19 56,785,999 (GRCm39) missense possibly damaging 0.50
R2351:Ccdc186 UTSW 19 56,787,129 (GRCm39) missense possibly damaging 0.89
R2970:Ccdc186 UTSW 19 56,795,430 (GRCm39) missense probably damaging 1.00
R4159:Ccdc186 UTSW 19 56,781,924 (GRCm39) nonsense probably null
R4898:Ccdc186 UTSW 19 56,790,432 (GRCm39) splice site probably null
R4910:Ccdc186 UTSW 19 56,787,123 (GRCm39) missense probably damaging 0.98
R5325:Ccdc186 UTSW 19 56,801,613 (GRCm39) missense probably damaging 0.99
R5338:Ccdc186 UTSW 19 56,801,689 (GRCm39) missense possibly damaging 0.87
R5662:Ccdc186 UTSW 19 56,781,920 (GRCm39) missense probably benign
R5773:Ccdc186 UTSW 19 56,801,919 (GRCm39) missense probably benign 0.06
R6621:Ccdc186 UTSW 19 56,801,919 (GRCm39) missense probably benign 0.06
R6806:Ccdc186 UTSW 19 56,788,561 (GRCm39) missense probably damaging 1.00
R6908:Ccdc186 UTSW 19 56,780,371 (GRCm39) critical splice donor site probably null
R6977:Ccdc186 UTSW 19 56,787,219 (GRCm39) missense probably benign 0.05
R7108:Ccdc186 UTSW 19 56,787,192 (GRCm39) missense probably damaging 1.00
R7190:Ccdc186 UTSW 19 56,780,432 (GRCm39) missense probably damaging 1.00
R7407:Ccdc186 UTSW 19 56,801,817 (GRCm39) missense probably benign 0.00
R7408:Ccdc186 UTSW 19 56,796,610 (GRCm39) missense probably damaging 1.00
R7437:Ccdc186 UTSW 19 56,795,429 (GRCm39) missense probably damaging 1.00
R8219:Ccdc186 UTSW 19 56,781,777 (GRCm39) missense probably benign 0.42
R8422:Ccdc186 UTSW 19 56,801,617 (GRCm39) missense probably benign 0.26
R8537:Ccdc186 UTSW 19 56,798,677 (GRCm39) missense probably damaging 1.00
R8777:Ccdc186 UTSW 19 56,801,793 (GRCm39) missense probably damaging 0.98
R8777-TAIL:Ccdc186 UTSW 19 56,801,793 (GRCm39) missense probably damaging 0.98
R9510:Ccdc186 UTSW 19 56,802,016 (GRCm39) missense probably benign 0.00
RF014:Ccdc186 UTSW 19 56,801,904 (GRCm39) missense probably benign 0.00
Posted On 2013-06-21