Incidental Mutation 'IGL03408:Ccdc186'
ID421676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc186
Ensembl Gene ENSMUSG00000035173
Gene Namecoiled-coil domain containing 186
SynonymsOtg1, A630007B06Rik, 1810028B20Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03408
Quality Score
Status
Chromosome19
Chromosomal Location56787481-56822190 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56798731 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 602 (K602E)
Ref Sequence ENSEMBL: ENSMUSP00000113457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076085] [ENSMUST00000118592]
Predicted Effect probably benign
Transcript: ENSMUST00000076085
AA Change: K602E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075454
Gene: ENSMUSG00000035173
AA Change: K602E

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 benign
Transcript: ENSMUST00000118592
AA Change: K602E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113457
Gene: ENSMUSG00000035173
AA Change: K602E

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 benign
Transcript: ENSMUST00000135666
SMART Domains Protein: ENSMUSP00000122539
Gene: ENSMUSG00000035173

DomainStartEndE-ValueType
Blast:SPEC 2 75 2e-15 BLAST
coiled coil region 149 188 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156708
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,214,405 Y652C probably benign Het
Abca12 A T 1: 71,264,795 F2108I probably damaging Het
Aco2 T C 15: 81,899,223 probably null Het
Ccdc85a T A 11: 28,576,528 H360L probably damaging Het
Cited2 A G 10: 17,724,400 H152R possibly damaging Het
Cluh C A 11: 74,665,953 R940S probably benign Het
Corin T A 5: 72,342,961 Y432F probably benign Het
Creb1 A G 1: 64,576,332 probably null Het
Dhx15 A T 5: 52,160,312 D568E probably damaging Het
Esam G T 9: 37,534,653 R162S possibly damaging Het
Fat3 T A 9: 15,997,957 K2250* probably null Het
Fbxl17 G A 17: 63,080,546 R133* probably null Het
Gm11639 T A 11: 104,710,621 S253R probably benign Het
Gzmc C T 14: 56,234,016 G23R probably damaging Het
Idh3a A G 9: 54,596,922 N189D probably benign Het
Il31ra A T 13: 112,525,888 D462E probably benign Het
Inpp5j G A 11: 3,502,809 A147V possibly damaging Het
Kalrn G A 16: 34,314,176 A412V probably damaging Het
Lrp1b A G 2: 40,858,582 V2968A probably damaging Het
Morc1 G A 16: 48,442,412 G42R probably damaging Het
Notch4 T C 17: 34,565,568 L85P probably benign Het
Olfr1263 G A 2: 90,015,571 V214M probably benign Het
Olfr498 A T 7: 108,465,347 N8Y probably damaging Het
Parp4 T A 14: 56,602,408 H524Q probably damaging Het
Pole T C 5: 110,294,560 F285L probably damaging Het
Scn9a A G 2: 66,526,747 M1070T probably benign Het
Slc25a32 G A 15: 39,100,030 A132V probably benign Het
Sult2a2 T G 7: 13,738,229 I117S probably damaging Het
Suv39h2 T C 2: 3,459,876 N183S probably damaging Het
Trhr2 G A 8: 122,358,795 T150M probably damaging Het
Usp34 T A 11: 23,446,957 F614I possibly damaging Het
Vmn2r17 A G 5: 109,429,372 probably benign Het
Wfdc2 T A 2: 164,563,363 C61* probably null Het
Zfp384 T C 6: 125,035,713 S377P probably damaging Het
Zfp945 A T 17: 22,852,537 Y150* probably null Het
Other mutations in Ccdc186
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Ccdc186 APN 19 56813447 missense probably benign 0.18
IGL00976:Ccdc186 APN 19 56797500 missense probably damaging 1.00
IGL01146:Ccdc186 APN 19 56809317 missense probably damaging 1.00
IGL01316:Ccdc186 APN 19 56813413 missense probably benign 0.01
IGL01627:Ccdc186 APN 19 56792020 missense probably damaging 1.00
IGL02325:Ccdc186 APN 19 56813356 missense probably benign 0.03
IGL02755:Ccdc186 APN 19 56813396 missense probably benign 0.06
IGL02899:Ccdc186 APN 19 56793488 missense probably benign 0.00
receding UTSW 19 56800129 missense probably damaging 1.00
R1256:Ccdc186 UTSW 19 56797621 missense probably benign 0.20
R1728:Ccdc186 UTSW 19 56809220 missense probably benign 0.04
R1729:Ccdc186 UTSW 19 56809220 missense probably benign 0.04
R1784:Ccdc186 UTSW 19 56809220 missense probably benign 0.04
R1813:Ccdc186 UTSW 19 56800169 missense probably benign 0.03
R1909:Ccdc186 UTSW 19 56793361 missense probably damaging 1.00
R2110:Ccdc186 UTSW 19 56800142 missense possibly damaging 0.80
R2319:Ccdc186 UTSW 19 56797567 missense possibly damaging 0.50
R2351:Ccdc186 UTSW 19 56798697 missense possibly damaging 0.89
R2970:Ccdc186 UTSW 19 56806998 missense probably damaging 1.00
R4159:Ccdc186 UTSW 19 56793492 nonsense probably null
R4898:Ccdc186 UTSW 19 56802000 splice site probably null
R4910:Ccdc186 UTSW 19 56798691 missense probably damaging 0.98
R5325:Ccdc186 UTSW 19 56813181 missense probably damaging 0.99
R5338:Ccdc186 UTSW 19 56813257 missense possibly damaging 0.87
R5662:Ccdc186 UTSW 19 56793488 missense probably benign
R5773:Ccdc186 UTSW 19 56813487 missense probably benign 0.06
R6621:Ccdc186 UTSW 19 56813487 missense probably benign 0.06
R6806:Ccdc186 UTSW 19 56800129 missense probably damaging 1.00
R6908:Ccdc186 UTSW 19 56791939 critical splice donor site probably null
R6977:Ccdc186 UTSW 19 56798787 missense probably benign 0.05
R7108:Ccdc186 UTSW 19 56798760 missense probably damaging 1.00
R7190:Ccdc186 UTSW 19 56792000 missense probably damaging 1.00
R7407:Ccdc186 UTSW 19 56813385 missense probably benign 0.00
R7408:Ccdc186 UTSW 19 56808178 missense probably damaging 1.00
R7437:Ccdc186 UTSW 19 56806997 missense probably damaging 1.00
RF014:Ccdc186 UTSW 19 56813472 missense probably benign 0.00
Posted On2016-08-02