Incidental Mutation 'IGL03057:Ccdc92'
ID 409275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc92
Ensembl Gene ENSMUSG00000037979
Gene Name coiled-coil domain containing 92
Synonyms D5Bwg0834e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # IGL03057
Quality Score
Status
Chromosome 5
Chromosomal Location 124911482-124939261 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 124912753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 259 (Q259*)
Ref Sequence ENSEMBL: ENSMUSP00000038075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036206] [ENSMUST00000058440] [ENSMUST00000135495] [ENSMUST00000141137] [ENSMUST00000143268]
AlphaFold Q8VDN4
Predicted Effect probably null
Transcript: ENSMUST00000036206
AA Change: Q259*
SMART Domains Protein: ENSMUSP00000038075
Gene: ENSMUSG00000037979
AA Change: Q259*

DomainStartEndE-ValueType
Pfam:CCDC92 7 63 1.5e-25 PFAM
low complexity region 72 84 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058440
SMART Domains Protein: ENSMUSP00000062995
Gene: ENSMUSG00000038011

DomainStartEndE-ValueType
low complexity region 63 72 N/A INTRINSIC
low complexity region 80 86 N/A INTRINSIC
coiled coil region 260 282 N/A INTRINSIC
Pfam:DHC_N1 305 878 9.1e-154 PFAM
coiled coil region 1191 1218 N/A INTRINSIC
coiled coil region 1337 1360 N/A INTRINSIC
Pfam:DHC_N2 1374 1782 1.7e-142 PFAM
AAA 1946 2082 2.51e-1 SMART
AAA 2225 2373 6.91e-1 SMART
low complexity region 2444 2464 N/A INTRINSIC
AAA 2567 2720 2.29e-2 SMART
Pfam:AAA_8 2886 3153 9.8e-87 PFAM
Pfam:MT 3165 3502 9.1e-53 PFAM
Pfam:AAA_9 3522 3747 2.3e-90 PFAM
Pfam:Dynein_heavy 3884 4588 7.6e-240 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135495
SMART Domains Protein: ENSMUSP00000119438
Gene: ENSMUSG00000037979

DomainStartEndE-ValueType
Pfam:CCDC92 6 59 2.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141137
SMART Domains Protein: ENSMUSP00000114593
Gene: ENSMUSG00000038011

DomainStartEndE-ValueType
low complexity region 63 72 N/A INTRINSIC
low complexity region 80 86 N/A INTRINSIC
coiled coil region 260 282 N/A INTRINSIC
Pfam:DHC_N1 304 607 4.3e-57 PFAM
Pfam:DHC_N1 598 823 1.2e-39 PFAM
coiled coil region 1134 1161 N/A INTRINSIC
coiled coil region 1280 1303 N/A INTRINSIC
Pfam:DHC_N2 1315 1727 7.3e-135 PFAM
AAA 1889 2025 4e-3 SMART
AAA 2168 2316 1.1e-2 SMART
low complexity region 2387 2407 N/A INTRINSIC
AAA 2510 2663 3.6e-4 SMART
Pfam:AAA_8 2829 3096 2.5e-83 PFAM
Pfam:MT 3108 3445 1.2e-50 PFAM
Pfam:AAA_9 3461 3691 6.7e-59 PFAM
Pfam:Dynein_heavy 3821 4532 1.9e-231 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143268
SMART Domains Protein: ENSMUSP00000114983
Gene: ENSMUSG00000037979

DomainStartEndE-ValueType
Pfam:CCDC92 6 66 2.3e-25 PFAM
low complexity region 72 84 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196708
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,488,754 (GRCm39) A1295V possibly damaging Het
Adgre4 T C 17: 56,106,602 (GRCm39) probably benign Het
Atp8b2 A T 3: 89,851,493 (GRCm39) Y901N probably damaging Het
Bud31 A G 5: 145,083,378 (GRCm39) T74A probably benign Het
C4b C A 17: 34,956,738 (GRCm39) probably benign Het
Ccn4 T C 15: 66,763,489 (GRCm39) probably benign Het
Chfr C A 5: 110,291,475 (GRCm39) Q98K probably benign Het
Ciita T A 16: 10,338,823 (GRCm39) probably benign Het
Cnbd2 A T 2: 156,209,592 (GRCm39) I512F possibly damaging Het
Cpa2 A G 6: 30,557,726 (GRCm39) Y346C probably damaging Het
Cpxm1 A G 2: 130,235,109 (GRCm39) L570P probably damaging Het
Cylc1 G A X: 110,166,370 (GRCm39) G217D unknown Het
Dennd2a T C 6: 39,485,182 (GRCm39) I366V probably damaging Het
Dis3 A T 14: 99,327,426 (GRCm39) M359K possibly damaging Het
Dock10 T C 1: 80,545,088 (GRCm39) N848S probably damaging Het
Dyrk3 C T 1: 131,056,815 (GRCm39) V453I probably benign Het
Ercc5 A G 1: 44,206,161 (GRCm39) E358G probably damaging Het
Fam167b C A 4: 129,471,960 (GRCm39) C70F possibly damaging Het
Flt1 G T 5: 147,618,734 (GRCm39) Y200* probably null Het
Garin4 A T 1: 190,895,141 (GRCm39) S501T probably benign Het
Ggh T C 4: 20,065,770 (GRCm39) V288A probably benign Het
Glb1l2 T C 9: 26,717,586 (GRCm39) probably benign Het
Gm28042 A G 2: 119,862,637 (GRCm39) Y302C probably damaging Het
Gsta2 A G 9: 78,241,192 (GRCm39) probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Irs4 A G X: 140,505,524 (GRCm39) S891P unknown Het
Kcmf1 G T 6: 72,820,010 (GRCm39) R330S probably benign Het
Kif26a G T 12: 112,142,208 (GRCm39) E821* probably null Het
L3mbtl1 A G 2: 162,809,303 (GRCm39) E670G probably damaging Het
Met A T 6: 17,558,765 (GRCm39) D1131V probably damaging Het
Neo1 T C 9: 58,785,342 (GRCm39) E1428G probably damaging Het
Odf2 A G 2: 29,813,657 (GRCm39) probably benign Het
Ogfod1 T A 8: 94,782,766 (GRCm39) L294H possibly damaging Het
Or8d1b G T 9: 38,887,514 (GRCm39) V181F probably benign Het
Pcdhb20 A T 18: 37,637,851 (GRCm39) I126L possibly damaging Het
Pcdhb9 A T 18: 37,534,330 (GRCm39) Q108L probably benign Het
Prdm10 G T 9: 31,260,481 (GRCm39) R645L probably damaging Het
Psmb11 T A 14: 54,863,236 (GRCm39) C151* probably null Het
Reep1 T A 6: 71,784,765 (GRCm39) probably benign Het
Reg3a G A 6: 78,358,939 (GRCm39) A46T possibly damaging Het
Rnf213 T A 11: 119,331,913 (GRCm39) I2374N probably damaging Het
Slc17a7 T C 7: 44,820,363 (GRCm39) Y273H probably damaging Het
Smg6 T A 11: 74,826,260 (GRCm39) Y238* probably null Het
Sorcs1 T A 19: 50,248,194 (GRCm39) K411* probably null Het
Spta1 G T 1: 174,008,624 (GRCm39) A243S probably benign Het
Tas2r135 A T 6: 42,378,061 (GRCm39) probably benign Het
Tbx18 T C 9: 87,612,882 (GRCm39) R6G probably damaging Het
Timp3 A G 10: 86,136,815 (GRCm39) D33G possibly damaging Het
Ttf1 A G 2: 28,961,357 (GRCm39) K582E probably damaging Het
Ubr5 C A 15: 38,041,150 (GRCm39) probably benign Het
Ugt2b1 A G 5: 87,074,200 (GRCm39) V53A possibly damaging Het
Ush2a G T 1: 188,530,035 (GRCm39) G3275W probably damaging Het
Usp19 G A 9: 108,376,329 (GRCm39) V1023M probably benign Het
Usp26 T C X: 50,846,135 (GRCm39) I47V possibly damaging Het
Vapa A G 17: 65,901,902 (GRCm39) V76A probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vps13a T C 19: 16,646,058 (GRCm39) N1993S probably damaging Het
Wdr59 G A 8: 112,202,750 (GRCm39) R598C probably damaging Het
Other mutations in Ccdc92
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01737:Ccdc92 APN 5 124,912,920 (GRCm39) missense probably damaging 1.00
IGL03185:Ccdc92 APN 5 124,913,014 (GRCm39) missense probably damaging 0.99
R0801:Ccdc92 UTSW 5 124,913,335 (GRCm39) missense probably benign
R1485:Ccdc92 UTSW 5 124,913,335 (GRCm39) missense probably benign
R1828:Ccdc92 UTSW 5 124,913,242 (GRCm39) missense probably benign 0.00
R4497:Ccdc92 UTSW 5 124,913,337 (GRCm39) missense probably benign 0.17
R5105:Ccdc92 UTSW 5 124,912,858 (GRCm39) missense probably damaging 1.00
R8014:Ccdc92 UTSW 5 124,913,090 (GRCm39) missense probably damaging 1.00
R8902:Ccdc92 UTSW 5 124,912,705 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02