Incidental Mutation 'IGL02805:Ccdc189'
ID 360391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc189
Ensembl Gene ENSMUSG00000057176
Gene Name coiled-coil domain containing 189
Synonyms LOC233899, Gm166
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02805
Quality Score
Status
Chromosome 7
Chromosomal Location 127582383-127588595 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127586394 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 121 (D121G)
Ref Sequence ENSEMBL: ENSMUSP00000072019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033086] [ENSMUST00000033088] [ENSMUST00000072155] [ENSMUST00000121004] [ENSMUST00000146383] [ENSMUST00000154891] [ENSMUST00000205633] [ENSMUST00000205694] [ENSMUST00000206914]
AlphaFold Q6NZQ0
Predicted Effect probably benign
Transcript: ENSMUST00000033086
SMART Domains Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815

DomainStartEndE-ValueType
S_TKc 24 291 6.4e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000033088
SMART Domains Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816

DomainStartEndE-ValueType
coiled coil region 55 86 N/A INTRINSIC
coiled coil region 189 209 N/A INTRINSIC
coiled coil region 231 377 N/A INTRINSIC
coiled coil region 437 525 N/A INTRINSIC
low complexity region 565 576 N/A INTRINSIC
coiled coil region 629 760 N/A INTRINSIC
coiled coil region 800 839 N/A INTRINSIC
RING 948 986 1.86e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000072155
AA Change: D121G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072019
Gene: ENSMUSG00000057176
AA Change: D121G

DomainStartEndE-ValueType
Pfam:CLAMP 130 228 3.1e-37 PFAM
low complexity region 243 274 N/A INTRINSIC
coiled coil region 285 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121004
SMART Domains Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815

DomainStartEndE-ValueType
S_TKc 24 291 6.4e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138158
Predicted Effect probably benign
Transcript: ENSMUST00000146383
SMART Domains Protein: ENSMUSP00000115593
Gene: ENSMUSG00000030815

DomainStartEndE-ValueType
Pfam:Pkinase 24 85 8.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149853
Predicted Effect probably benign
Transcript: ENSMUST00000154891
SMART Domains Protein: ENSMUSP00000116860
Gene: ENSMUSG00000030815

DomainStartEndE-ValueType
Pfam:Pkinase 24 78 4.5e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205633
Predicted Effect probably benign
Transcript: ENSMUST00000205694
Predicted Effect probably benign
Transcript: ENSMUST00000205839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206057
Predicted Effect probably benign
Transcript: ENSMUST00000206914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206891
Predicted Effect probably benign
Transcript: ENSMUST00000206818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206220
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign Het
Other mutations in Ccdc189
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Ccdc189 APN 7 127585038 missense probably damaging 0.99
R0197:Ccdc189 UTSW 7 127584862 missense probably damaging 0.98
R0883:Ccdc189 UTSW 7 127584862 missense probably damaging 0.98
R1695:Ccdc189 UTSW 7 127587573 splice site probably null
R1699:Ccdc189 UTSW 7 127586856 splice site probably null
R4230:Ccdc189 UTSW 7 127586830 missense probably benign 0.18
R4427:Ccdc189 UTSW 7 127588116 unclassified probably benign
R4592:Ccdc189 UTSW 7 127585491 missense probably benign 0.01
R7741:Ccdc189 UTSW 7 127587987 missense probably benign 0.00
R7920:Ccdc189 UTSW 7 127587953 missense probably benign 0.00
R8228:Ccdc189 UTSW 7 127585007 missense probably benign 0.41
R9478:Ccdc189 UTSW 7 127584915 critical splice acceptor site probably null
X0021:Ccdc189 UTSW 7 127585521 missense probably damaging 1.00
Posted On 2015-12-18