Incidental Mutation 'IGL01629:Ccdc191'
ID 92877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc191
Ensembl Gene ENSMUSG00000022701
Gene Name coiled-coil domain containing 191
Synonyms 2610015P09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock # IGL01629
Quality Score
Status
Chromosome 16
Chromosomal Location 43889800-43964314 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43959300 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 707 (K707E)
Ref Sequence ENSEMBL: ENSMUSP00000116078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132859] [ENSMUST00000178400]
AlphaFold J3QQ27
Predicted Effect unknown
Transcript: ENSMUST00000122440
AA Change: K350E
SMART Domains Protein: ENSMUSP00000113814
Gene: ENSMUSG00000022701
AA Change: K350E

DomainStartEndE-ValueType
coiled coil region 114 147 N/A INTRINSIC
coiled coil region 211 284 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000132859
AA Change: K707E

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: K707E

DomainStartEndE-ValueType
coiled coil region 144 183 N/A INTRINSIC
coiled coil region 217 237 N/A INTRINSIC
coiled coil region 278 308 N/A INTRINSIC
low complexity region 349 368 N/A INTRINSIC
coiled coil region 471 504 N/A INTRINSIC
coiled coil region 568 641 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178400
AA Change: K765E

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: K765E

DomainStartEndE-ValueType
coiled coil region 202 241 N/A INTRINSIC
coiled coil region 275 295 N/A INTRINSIC
coiled coil region 336 366 N/A INTRINSIC
low complexity region 407 426 N/A INTRINSIC
coiled coil region 529 562 N/A INTRINSIC
coiled coil region 626 699 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik T A 8: 3,381,942 C168S possibly damaging Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Adm2 T A 15: 89,323,402 probably null Het
Alox12 G A 11: 70,242,834 P555S probably damaging Het
Alpk2 A G 18: 65,300,042 S1798P probably damaging Het
Amfr T A 8: 93,987,508 probably null Het
Atxn7l3 A T 11: 102,292,494 probably benign Het
Cdc5l G T 17: 45,413,190 D391E probably benign Het
Cmtm2b T C 8: 104,329,788 S110P possibly damaging Het
Cyp2j8 T C 4: 96,499,603 D207G probably damaging Het
Ddhd2 A G 8: 25,735,828 F501L possibly damaging Het
Dnah1 C T 14: 31,292,320 V1823M probably damaging Het
Gjb4 T C 4: 127,351,626 D174G possibly damaging Het
Gm10471 C T 5: 26,085,702 S157N probably damaging Het
Gm45213 A G 7: 66,062,214 D58G probably damaging Het
Hes1 C T 16: 30,066,158 probably benign Het
Krt33b T A 11: 100,029,560 Q89L probably benign Het
Llcfc1 C A 6: 41,684,525 S3Y possibly damaging Het
Ltf A G 9: 111,035,806 N569S probably damaging Het
Mknk1 T A 4: 115,875,534 W320R probably damaging Het
Mrgprx3-ps T A 7: 47,309,605 K213* probably null Het
Mslnl T G 17: 25,744,775 V388G possibly damaging Het
Nfkb1 T C 3: 135,601,467 I566V probably benign Het
Npy1r G A 8: 66,704,221 V98I probably benign Het
Phf1 G T 17: 26,934,273 A22S probably benign Het
Pih1d3 T A 1: 31,222,933 probably null Het
Plcg1 T G 2: 160,758,010 F897V possibly damaging Het
Ric1 A T 19: 29,603,981 E1367D probably benign Het
Slc24a3 T C 2: 145,640,210 probably benign Het
Sorl1 A G 9: 42,057,269 probably null Het
Spink5 T C 18: 43,996,610 probably benign Het
Syne2 A G 12: 76,004,603 I4036V possibly damaging Het
Taok1 A T 11: 77,538,204 M890K possibly damaging Het
Tenm2 A T 11: 36,864,884 Y96N probably damaging Het
Ttll10 T A 4: 156,046,894 T233S probably benign Het
Vps39 G T 2: 120,323,598 L628M probably benign Het
Zfp563 G A 17: 33,104,626 R105H probably damaging Het
Other mutations in Ccdc191
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02272:Ccdc191 APN 16 43960022 missense possibly damaging 0.85
IGL02473:Ccdc191 APN 16 43956894 missense probably benign 0.03
IGL02660:Ccdc191 APN 16 43960099 missense probably benign 0.11
LCD18:Ccdc191 UTSW 16 43921801 intron probably benign
R0238:Ccdc191 UTSW 16 43947496 nonsense probably null
R0238:Ccdc191 UTSW 16 43947496 nonsense probably null
R0346:Ccdc191 UTSW 16 43938952 missense probably damaging 0.99
R0590:Ccdc191 UTSW 16 43931341 nonsense probably null
R0907:Ccdc191 UTSW 16 43915538 missense probably benign 0.03
R0930:Ccdc191 UTSW 16 43931255 missense probably damaging 1.00
R1761:Ccdc191 UTSW 16 43943510 missense probably benign 0.01
R2127:Ccdc191 UTSW 16 43908635 missense probably benign 0.00
R2408:Ccdc191 UTSW 16 43931198 missense probably benign 0.08
R2567:Ccdc191 UTSW 16 43943967 splice site probably null
R3104:Ccdc191 UTSW 16 43931210 missense probably damaging 1.00
R3105:Ccdc191 UTSW 16 43931210 missense probably damaging 1.00
R3106:Ccdc191 UTSW 16 43931210 missense probably damaging 1.00
R4319:Ccdc191 UTSW 16 43947509 missense probably damaging 1.00
R4320:Ccdc191 UTSW 16 43947509 missense probably damaging 1.00
R4323:Ccdc191 UTSW 16 43947509 missense probably damaging 1.00
R4324:Ccdc191 UTSW 16 43947509 missense probably damaging 1.00
R4667:Ccdc191 UTSW 16 43931283 missense probably damaging 1.00
R4676:Ccdc191 UTSW 16 43939173 splice site probably benign
R4788:Ccdc191 UTSW 16 43956822 missense probably damaging 1.00
R4976:Ccdc191 UTSW 16 43943505 missense probably benign 0.17
R5557:Ccdc191 UTSW 16 43908613 missense probably damaging 1.00
R6369:Ccdc191 UTSW 16 43915485 missense probably benign 0.05
R7459:Ccdc191 UTSW 16 43947457 nonsense probably null
R7543:Ccdc191 UTSW 16 43898209 nonsense probably null
R7843:Ccdc191 UTSW 16 43959336 missense probably damaging 1.00
R8077:Ccdc191 UTSW 16 43915605 critical splice donor site probably null
R8474:Ccdc191 UTSW 16 43889899 start gained probably benign
R8984:Ccdc191 UTSW 16 43890218 intron probably benign
R8987:Ccdc191 UTSW 16 43931347 missense probably benign 0.29
R9108:Ccdc191 UTSW 16 43898149 missense possibly damaging 0.92
R9222:Ccdc191 UTSW 16 43905468 missense probably damaging 1.00
R9276:Ccdc191 UTSW 16 43943678 nonsense probably null
R9448:Ccdc191 UTSW 16 43938975 missense
R9507:Ccdc191 UTSW 16 43943829 missense probably damaging 0.99
R9757:Ccdc191 UTSW 16 43941807 missense
Z1177:Ccdc191 UTSW 16 43939122 missense possibly damaging 0.62
Posted On 2013-12-09