Incidental Mutation 'IGL01866:Ccdc146'
ID 278948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc146
Ensembl Gene ENSMUSG00000064280
Gene Name coiled-coil domain containing 146
Synonyms 4930528G09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01866
Quality Score
Status
Chromosome 5
Chromosomal Location 21497959-21629675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21538052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 91 (A91S)
Ref Sequence ENSEMBL: ENSMUSP00000030552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000115245]
AlphaFold E9Q9F7
Predicted Effect probably damaging
Transcript: ENSMUST00000030552
AA Change: A91S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
AA Change: A91S

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 120 130 N/A INTRINSIC
coiled coil region 194 320 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115245
AA Change: A91S

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: A91S

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 120 130 N/A INTRINSIC
coiled coil region 194 320 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
coiled coil region 438 477 N/A INTRINSIC
coiled coil region 549 595 N/A INTRINSIC
coiled coil region 617 663 N/A INTRINSIC
coiled coil region 690 720 N/A INTRINSIC
coiled coil region 770 793 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132473
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T C 4: 144,255,119 (GRCm39) Y180H possibly damaging Het
Abi3bp A T 16: 56,492,336 (GRCm39) I1361L probably benign Het
Amph A T 13: 19,326,172 (GRCm39) D634V probably damaging Het
Ank1 G A 8: 23,583,871 (GRCm39) V317I possibly damaging Het
Ap4e1 G A 2: 126,888,830 (GRCm39) V460I possibly damaging Het
Arhgap19 A T 19: 41,775,016 (GRCm39) H198Q probably benign Het
Cacna1g C T 11: 94,347,937 (GRCm39) G717D probably damaging Het
Camkk2 A G 5: 122,902,013 (GRCm39) S99P probably damaging Het
Catsperb T A 12: 101,475,570 (GRCm39) Y371* probably null Het
Cbl A T 9: 44,065,122 (GRCm39) C735* probably null Het
Col1a2 G T 6: 4,524,132 (GRCm39) D531Y probably damaging Het
Dscam T A 16: 96,486,550 (GRCm39) T1042S probably benign Het
Dtnb A G 12: 3,782,626 (GRCm39) Y363C probably benign Het
Ear10 A G 14: 44,160,785 (GRCm39) L14P probably damaging Het
Egf A G 3: 129,529,529 (GRCm39) S294P probably benign Het
Erbb3 T C 10: 128,405,237 (GRCm39) *1340W probably null Het
Fam217b A G 2: 178,062,224 (GRCm39) T63A probably benign Het
Fig4 G A 10: 41,108,160 (GRCm39) P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Hdac10 C A 15: 89,008,736 (GRCm39) G442W probably damaging Het
Mc2r C T 18: 68,540,494 (GRCm39) M266I possibly damaging Het
Mep1b A G 18: 21,228,050 (GRCm39) Q551R probably benign Het
Mtrf1 T A 14: 79,638,948 (GRCm39) C27S probably benign Het
Myo5c T A 9: 75,176,864 (GRCm39) M603K probably benign Het
Nuf2 A G 1: 169,326,407 (GRCm39) L448P possibly damaging Het
Or10a49 C T 7: 108,468,006 (GRCm39) M118I possibly damaging Het
Or1e30 A T 11: 73,678,654 (GRCm39) I297L probably benign Het
Or2b7 T C 13: 21,739,343 (GRCm39) N283S probably benign Het
Or8g33 A T 9: 39,338,025 (GRCm39) M114K probably damaging Het
Ppp2r5c T C 12: 110,534,261 (GRCm39) Y375H probably benign Het
Pstpip2 A G 18: 77,965,325 (GRCm39) I317M probably benign Het
Pxdn A G 12: 30,034,570 (GRCm39) T208A probably benign Het
Rab3gap1 C T 1: 127,818,817 (GRCm39) H116Y probably damaging Het
Rarb T A 14: 16,443,751 (GRCm38) D179V probably benign Het
Rasal1 G A 5: 120,813,488 (GRCm39) A621T probably damaging Het
Rnf6 G A 5: 146,147,717 (GRCm39) R434C probably damaging Het
Scn10a C A 9: 119,464,568 (GRCm39) E1011* probably null Het
Sec24d C T 3: 123,087,244 (GRCm39) Q137* probably null Het
Slc35g1 C A 19: 38,391,642 (GRCm39) A308E probably damaging Het
Smtnl1 C A 2: 84,649,089 (GRCm39) C55F possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stt3a A T 9: 36,645,662 (GRCm39) D676E probably benign Het
Sytl2 T C 7: 90,031,047 (GRCm39) probably benign Het
Trabd2b A G 4: 114,266,117 (GRCm39) T44A probably damaging Het
Trim12a T C 7: 103,953,360 (GRCm39) probably benign Het
Tti1 A T 2: 157,849,618 (GRCm39) D540E probably benign Het
Tubgcp6 A G 15: 88,987,691 (GRCm39) V1094A probably benign Het
Vmn1r34 A G 6: 66,614,373 (GRCm39) Y122H probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp579 T A 7: 4,997,257 (GRCm39) Q218L possibly damaging Het
Other mutations in Ccdc146
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ccdc146 APN 5 21,506,420 (GRCm39) missense possibly damaging 0.93
IGL01066:Ccdc146 APN 5 21,524,540 (GRCm39) missense probably benign 0.03
IGL01399:Ccdc146 APN 5 21,499,611 (GRCm39) missense possibly damaging 0.75
IGL01868:Ccdc146 APN 5 21,538,052 (GRCm39) missense probably damaging 0.99
IGL01869:Ccdc146 APN 5 21,521,837 (GRCm39) missense probably benign 0.25
IGL02213:Ccdc146 APN 5 21,521,902 (GRCm39) missense probably benign 0.10
IGL02338:Ccdc146 APN 5 21,524,604 (GRCm39) unclassified probably benign
IGL02553:Ccdc146 APN 5 21,502,631 (GRCm39) missense probably benign 0.00
IGL02838:Ccdc146 APN 5 21,502,567 (GRCm39) missense probably benign 0.01
Starcraft UTSW 5 21,604,612 (GRCm39) splice site probably null
R0051:Ccdc146 UTSW 5 21,521,902 (GRCm39) missense possibly damaging 0.58
R0051:Ccdc146 UTSW 5 21,521,902 (GRCm39) missense possibly damaging 0.58
R0055:Ccdc146 UTSW 5 21,502,004 (GRCm39) splice site probably null
R0115:Ccdc146 UTSW 5 21,527,754 (GRCm39) missense possibly damaging 0.87
R0373:Ccdc146 UTSW 5 21,524,543 (GRCm39) missense probably benign 0.00
R1251:Ccdc146 UTSW 5 21,498,370 (GRCm39) missense probably benign 0.00
R1355:Ccdc146 UTSW 5 21,526,240 (GRCm39) missense probably damaging 1.00
R1405:Ccdc146 UTSW 5 21,604,730 (GRCm39) missense probably benign 0.00
R1405:Ccdc146 UTSW 5 21,604,730 (GRCm39) missense probably benign 0.00
R1470:Ccdc146 UTSW 5 21,524,564 (GRCm39) missense probably damaging 1.00
R1470:Ccdc146 UTSW 5 21,524,564 (GRCm39) missense probably damaging 1.00
R1556:Ccdc146 UTSW 5 21,535,551 (GRCm39) missense probably damaging 1.00
R1613:Ccdc146 UTSW 5 21,499,522 (GRCm39) missense probably damaging 0.99
R1872:Ccdc146 UTSW 5 21,506,288 (GRCm39) missense probably benign 0.01
R2271:Ccdc146 UTSW 5 21,604,719 (GRCm39) missense probably benign 0.15
R2329:Ccdc146 UTSW 5 21,513,610 (GRCm39) critical splice donor site probably null
R2518:Ccdc146 UTSW 5 21,510,526 (GRCm39) missense probably benign
R2680:Ccdc146 UTSW 5 21,510,267 (GRCm39) missense possibly damaging 0.58
R3116:Ccdc146 UTSW 5 21,521,953 (GRCm39) missense probably benign 0.02
R3121:Ccdc146 UTSW 5 21,499,591 (GRCm39) missense possibly damaging 0.56
R3122:Ccdc146 UTSW 5 21,499,591 (GRCm39) missense possibly damaging 0.56
R3159:Ccdc146 UTSW 5 21,604,790 (GRCm39) missense unknown
R3436:Ccdc146 UTSW 5 21,502,003 (GRCm39) missense possibly damaging 0.92
R4043:Ccdc146 UTSW 5 21,521,941 (GRCm39) missense probably benign 0.14
R4226:Ccdc146 UTSW 5 21,527,756 (GRCm39) missense probably benign 0.09
R4493:Ccdc146 UTSW 5 21,508,191 (GRCm39) missense possibly damaging 0.92
R5013:Ccdc146 UTSW 5 21,538,036 (GRCm39) missense probably damaging 1.00
R5024:Ccdc146 UTSW 5 21,604,612 (GRCm39) splice site probably null
R5051:Ccdc146 UTSW 5 21,508,081 (GRCm39) missense possibly damaging 0.77
R5384:Ccdc146 UTSW 5 21,513,711 (GRCm39) missense probably benign 0.37
R5532:Ccdc146 UTSW 5 21,510,329 (GRCm39) missense probably benign 0.02
R5906:Ccdc146 UTSW 5 21,506,350 (GRCm39) missense possibly damaging 0.88
R5927:Ccdc146 UTSW 5 21,513,619 (GRCm39) nonsense probably null
R5951:Ccdc146 UTSW 5 21,524,577 (GRCm39) missense possibly damaging 0.84
R5978:Ccdc146 UTSW 5 21,521,966 (GRCm39) missense probably benign 0.02
R5990:Ccdc146 UTSW 5 21,523,180 (GRCm39) missense probably benign 0.41
R6123:Ccdc146 UTSW 5 21,510,595 (GRCm39) missense possibly damaging 0.93
R6217:Ccdc146 UTSW 5 21,522,900 (GRCm39) splice site probably null
R6276:Ccdc146 UTSW 5 21,506,338 (GRCm39) missense probably damaging 0.98
R6665:Ccdc146 UTSW 5 21,508,092 (GRCm39) missense probably damaging 1.00
R7077:Ccdc146 UTSW 5 21,510,272 (GRCm39) missense possibly damaging 0.94
R7204:Ccdc146 UTSW 5 21,513,624 (GRCm39) missense probably benign 0.22
R7336:Ccdc146 UTSW 5 21,508,110 (GRCm39) missense probably benign 0.41
R7608:Ccdc146 UTSW 5 21,506,450 (GRCm39) missense probably benign 0.02
R8310:Ccdc146 UTSW 5 21,506,469 (GRCm39) intron probably benign
R8427:Ccdc146 UTSW 5 21,604,790 (GRCm39) missense unknown
R8927:Ccdc146 UTSW 5 21,538,060 (GRCm39) missense probably damaging 1.00
R8928:Ccdc146 UTSW 5 21,538,060 (GRCm39) missense probably damaging 1.00
R8957:Ccdc146 UTSW 5 21,514,585 (GRCm39) intron probably benign
R9003:Ccdc146 UTSW 5 21,508,132 (GRCm39) missense possibly damaging 0.58
R9252:Ccdc146 UTSW 5 21,502,023 (GRCm39) missense probably damaging 0.98
R9425:Ccdc146 UTSW 5 21,508,135 (GRCm39) missense probably damaging 0.99
R9612:Ccdc146 UTSW 5 21,535,577 (GRCm39) missense probably damaging 0.99
R9774:Ccdc146 UTSW 5 21,506,247 (GRCm39) missense probably benign
Posted On 2015-04-16