Incidental Mutation 'R5993:Ccdc149'
ID 480941
Institutional Source Beutler Lab
Gene Symbol Ccdc149
Ensembl Gene ENSMUSG00000045790
Gene Name coiled-coil domain containing 149
Synonyms Gm447, LOC242997
MMRRC Submission 044172-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5993 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 52531993-52628863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52560117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 246 (R246Q)
Ref Sequence ENSEMBL: ENSMUSP00000062411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059428] [ENSMUST00000198008]
AlphaFold F6V035
Predicted Effect probably damaging
Transcript: ENSMUST00000059428
AA Change: R246Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062411
Gene: ENSMUSG00000045790
AA Change: R246Q

DomainStartEndE-ValueType
Pfam:DUF2353 21 333 3.5e-117 PFAM
low complexity region 388 404 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198008
SMART Domains Protein: ENSMUSP00000143041
Gene: ENSMUSG00000045790

DomainStartEndE-ValueType
Pfam:DUF2353 21 138 1.5e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213027
AA Change: R59Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,236,604 (GRCm39) N805K probably damaging Het
Add1 A C 5: 34,758,877 (GRCm39) S64R probably damaging Het
Alas1 A G 9: 106,111,328 (GRCm39) F613L probably benign Het
Ankrd17 A T 5: 90,487,531 (GRCm39) probably benign Het
Anks3 C T 16: 4,776,001 (GRCm39) G67D probably damaging Het
Aspm C T 1: 139,407,269 (GRCm39) T2052I probably benign Het
Atp8b4 C T 2: 126,245,154 (GRCm39) V332I probably benign Het
Bin2 CGGAGCTGA C 15: 100,542,901 (GRCm39) probably null Het
Bpifb3 T A 2: 153,771,234 (GRCm39) M382K probably benign Het
Ccdc57 T C 11: 120,785,550 (GRCm39) K462E possibly damaging Het
Cux1 T C 5: 136,392,125 (GRCm39) T9A probably benign Het
Cyp2c23 A G 19: 44,000,799 (GRCm39) Y362H probably damaging Het
D430041D05Rik A G 2: 103,998,412 (GRCm39) I998T probably damaging Het
Dclre1a A C 19: 56,531,169 (GRCm39) Y726D probably damaging Het
Dnah5 T C 15: 28,299,372 (GRCm39) V1578A probably benign Het
Dppa4 C T 16: 48,109,709 (GRCm39) R110* probably null Het
Drc7 T A 8: 95,800,820 (GRCm39) V614E probably benign Het
Garin2 C A 12: 78,762,210 (GRCm39) N12K probably damaging Het
Gcc1 G A 6: 28,424,851 (GRCm39) probably null Het
Greb1l G A 18: 10,544,455 (GRCm39) D1350N probably benign Het
Kcnc1 G A 7: 46,076,956 (GRCm39) V253M probably damaging Het
Krt78 T A 15: 101,858,884 (GRCm39) I323F probably damaging Het
Man2b2 A G 5: 36,978,324 (GRCm39) V320A probably benign Het
Mphosph9 A T 5: 124,454,161 (GRCm39) F112Y probably benign Het
Mrc1 A G 2: 14,310,138 (GRCm39) T800A probably damaging Het
Mroh1 C A 15: 76,330,880 (GRCm39) A1197E probably damaging Het
Nlrp10 A T 7: 108,526,220 (GRCm39) H39Q probably benign Het
Nop2 C T 6: 125,120,982 (GRCm39) T588I probably benign Het
Oxld1 A G 11: 120,347,835 (GRCm39) S121P probably benign Het
Pakap A G 4: 57,855,273 (GRCm39) K444E possibly damaging Het
Prox1 T A 1: 189,894,436 (GRCm39) D3V probably damaging Het
Ptk7 T C 17: 46,876,296 (GRCm39) T1052A probably benign Het
Rhot2 T A 17: 26,060,085 (GRCm39) T299S probably benign Het
Rhov A G 2: 119,100,533 (GRCm39) F235L probably damaging Het
Runx1t1 A T 4: 13,841,863 (GRCm39) R158S probably damaging Het
Runx1t1 A T 4: 13,875,490 (GRCm39) E431D probably benign Het
Sema3e A G 5: 14,274,307 (GRCm39) E186G probably damaging Het
Sema5b T A 16: 35,466,572 (GRCm39) L158H probably damaging Het
Serpina3j A G 12: 104,280,946 (GRCm39) T40A probably benign Het
Shroom3 A T 5: 93,088,047 (GRCm39) S185C probably damaging Het
Skint6 A T 4: 112,666,276 (GRCm39) V1183D probably benign Het
Smg1 A G 7: 117,739,732 (GRCm39) V3405A probably benign Het
Supt16 C A 14: 52,415,791 (GRCm39) R357L probably damaging Het
Thrap3 A T 4: 126,069,253 (GRCm39) probably null Het
Topaz1 T C 9: 122,578,104 (GRCm39) L338S probably benign Het
Ttll3 T A 6: 113,374,992 (GRCm39) Y139* probably null Het
Ttn T G 2: 76,626,251 (GRCm39) D6641A probably damaging Het
Wwc1 T C 11: 35,743,163 (GRCm39) D886G probably benign Het
Zc3h7a T A 16: 10,968,526 (GRCm39) K484N probably damaging Het
Other mutations in Ccdc149
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Ccdc149 APN 5 52,533,664 (GRCm39) missense probably benign 0.15
IGL02002:Ccdc149 APN 5 52,563,421 (GRCm39) missense probably damaging 1.00
pequeno UTSW 5 52,562,475 (GRCm39) nonsense probably null
R0226:Ccdc149 UTSW 5 52,557,559 (GRCm39) missense probably damaging 1.00
R0420:Ccdc149 UTSW 5 52,557,581 (GRCm39) splice site probably benign
R0959:Ccdc149 UTSW 5 52,542,497 (GRCm39) missense probably damaging 1.00
R2075:Ccdc149 UTSW 5 52,596,510 (GRCm39) missense probably damaging 1.00
R2355:Ccdc149 UTSW 5 52,578,114 (GRCm39) missense probably damaging 0.99
R4755:Ccdc149 UTSW 5 52,561,493 (GRCm39) missense probably damaging 0.96
R5596:Ccdc149 UTSW 5 52,561,493 (GRCm39) missense probably damaging 0.96
R5955:Ccdc149 UTSW 5 52,533,877 (GRCm39) missense probably benign 0.00
R6351:Ccdc149 UTSW 5 52,542,477 (GRCm39) missense probably benign
R6742:Ccdc149 UTSW 5 52,562,475 (GRCm39) nonsense probably null
R6939:Ccdc149 UTSW 5 52,533,607 (GRCm39) missense probably benign 0.00
R6963:Ccdc149 UTSW 5 52,596,439 (GRCm39) missense probably damaging 1.00
R7379:Ccdc149 UTSW 5 52,562,408 (GRCm39) missense probably damaging 0.99
R7715:Ccdc149 UTSW 5 52,561,533 (GRCm39) critical splice acceptor site probably null
R7920:Ccdc149 UTSW 5 52,562,436 (GRCm39) missense probably damaging 0.98
R8154:Ccdc149 UTSW 5 52,542,446 (GRCm39) critical splice donor site probably null
R8489:Ccdc149 UTSW 5 52,533,999 (GRCm39) missense probably benign 0.01
R8791:Ccdc149 UTSW 5 52,596,552 (GRCm39) missense probably damaging 1.00
R9091:Ccdc149 UTSW 5 52,563,352 (GRCm39) missense possibly damaging 0.81
R9270:Ccdc149 UTSW 5 52,563,352 (GRCm39) missense possibly damaging 0.81
R9332:Ccdc149 UTSW 5 52,562,399 (GRCm39) missense probably damaging 1.00
R9334:Ccdc149 UTSW 5 52,578,171 (GRCm39) missense possibly damaging 0.49
R9501:Ccdc149 UTSW 5 52,542,477 (GRCm39) missense probably benign
Z1176:Ccdc149 UTSW 5 52,578,155 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCAATCCTGAGGCAAGTGAC -3'
(R):5'- TCTCCTTTGCAGTAACTTAAAAGGC -3'

Sequencing Primer
(F):5'- GTGACAGAAGCCACAGTTTTC -3'
(R):5'- CCCTCTATATGGAGCCTTTTAAAAC -3'
Posted On 2017-06-26