Incidental Mutation 'IGL02725:Ccdc50'
ID305184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc50
Ensembl Gene ENSMUSG00000038127
Gene Namecoiled-coil domain containing 50
SynonymsD16Bwg1543e, 5730448P06Rik, 2610529H08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02725
Quality Score
Status
Chromosome16
Chromosomal Location27388869-27452218 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27436597 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 237 (C237R)
Ref Sequence ENSEMBL: ENSMUSP00000097604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039443] [ENSMUST00000096127] [ENSMUST00000100026]
Predicted Effect probably benign
Transcript: ENSMUST00000039443
AA Change: C237R

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038509
Gene: ENSMUSG00000038127
AA Change: C237R

DomainStartEndE-ValueType
Pfam:CCDC50_N 1 131 2e-59 PFAM
low complexity region 211 225 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096127
AA Change: C222R

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093841
Gene: ENSMUSG00000038127
AA Change: C222R

DomainStartEndE-ValueType
Pfam:CCDC50_N 1 131 1.8e-59 PFAM
coiled coil region 183 212 N/A INTRINSIC
low complexity region 223 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100026
AA Change: C237R

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097604
Gene: ENSMUSG00000038127
AA Change: C237R

DomainStartEndE-ValueType
Pfam:CCDC50_N 4 128 1.5e-50 PFAM
low complexity region 211 225 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000143823
AA Change: C238R
SMART Domains Protein: ENSMUSP00000118633
Gene: ENSMUSG00000038127
AA Change: C238R

DomainStartEndE-ValueType
Pfam:CCDC50_N 16 130 4.7e-44 PFAM
low complexity region 213 227 N/A INTRINSIC
low complexity region 240 251 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,474,909 I414T possibly damaging Het
Agpat3 A C 10: 78,278,055 D266E probably benign Het
Alpk3 G T 7: 81,093,610 Q1058H possibly damaging Het
Atat1 A T 17: 35,909,489 V37E probably benign Het
Bcl6b A G 11: 70,228,518 V124A probably damaging Het
Bmt2 T C 6: 13,628,496 E396G probably damaging Het
Chd9 A G 8: 91,051,684 I2790M possibly damaging Het
Chkb A G 15: 89,429,137 L82P probably damaging Het
Cit T C 5: 115,985,473 Y1458H probably benign Het
Clp1 T A 2: 84,723,864 K320N probably benign Het
Cry2 T C 2: 92,413,260 probably benign Het
Cyp20a1 C T 1: 60,366,706 R220W probably benign Het
Cyp27a1 C T 1: 74,735,703 P268S probably damaging Het
Cyp2e1 T G 7: 140,763,915 I22S probably null Het
Defb34 A G 8: 19,123,758 T3A unknown Het
Dpy19l3 A T 7: 35,711,918 M422K probably benign Het
Eif4g3 A T 4: 138,170,471 probably benign Het
Elmod3 A G 6: 72,594,775 S7P probably damaging Het
Fam151a T G 4: 106,748,014 S524R probably damaging Het
Gcc1 A T 6: 28,418,459 V625E probably benign Het
Glmn G A 5: 107,575,289 P112S possibly damaging Het
Grm5 A C 7: 88,074,665 D721A probably damaging Het
Hivep3 T C 4: 120,095,822 V445A possibly damaging Het
Hmcn1 T A 1: 150,604,903 E4507D possibly damaging Het
Hmcn2 A C 2: 31,405,528 E2583A probably damaging Het
Ifnb1 T A 4: 88,522,630 I49F probably benign Het
Ints8 A C 4: 11,239,406 C306W probably benign Het
Jakmip2 A G 18: 43,562,590 S540P probably damaging Het
Kctd1 A G 18: 14,969,610 V838A possibly damaging Het
Klk10 T C 7: 43,781,620 L29P probably damaging Het
Lyst T A 13: 13,760,827 I3627K probably damaging Het
Maml3 A G 3: 52,103,774 S124P probably damaging Het
Nav2 A T 7: 49,565,095 K1632I probably damaging Het
Olfr324 T C 11: 58,597,864 V156A probably benign Het
Pde2a G T 7: 101,507,218 M616I probably null Het
Pdia2 T C 17: 26,196,532 D440G probably benign Het
Rab11fip5 A G 6: 85,374,489 S14P probably damaging Het
Rhpn2 T C 7: 35,379,606 S383P probably damaging Het
Rnf220 A G 4: 117,272,379 probably benign Het
Rnf43 A G 11: 87,731,585 D504G probably damaging Het
Setbp1 A T 18: 78,857,374 L1026* probably null Het
Slc1a4 A T 11: 20,308,408 S264T probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptan1 T C 2: 29,996,043 I739T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stat5b A T 11: 100,805,014 D47E possibly damaging Het
Taar7b A T 10: 24,000,063 Y42F probably benign Het
Tfdp2 T A 9: 96,287,695 I33K possibly damaging Het
Tm4sf5 A G 11: 70,510,622 H149R probably benign Het
Tmco6 A G 18: 36,738,707 M257V probably benign Het
Tuba8 G T 6: 121,225,957 G410* probably null Het
Ubd T A 17: 37,193,962 V4D probably benign Het
Ugt2b34 C T 5: 86,906,425 V166I probably benign Het
Vmn2r70 C T 7: 85,565,345 V200I possibly damaging Het
Wdcp A T 12: 4,851,206 N354I probably damaging Het
Wipi2 A T 5: 142,666,863 Y410F possibly damaging Het
Zc3hav1 G T 6: 38,332,192 P565Q probably damaging Het
Zfp398 T C 6: 47,865,803 V131A probably benign Het
Zkscan3 T C 13: 21,394,893 D144G possibly damaging Het
Zpbp T A 11: 11,462,358 probably benign Het
Other mutations in Ccdc50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Ccdc50 APN 16 27409352 missense probably damaging 1.00
IGL02742:Ccdc50 APN 16 27406784 splice site probably benign
R0310:Ccdc50 UTSW 16 27406658 missense probably damaging 1.00
R0582:Ccdc50 UTSW 16 27444659 splice site probably benign
R1993:Ccdc50 UTSW 16 27409339 nonsense probably null
R2844:Ccdc50 UTSW 16 27406729 missense probably damaging 1.00
R3121:Ccdc50 UTSW 16 27409389 missense possibly damaging 0.89
R3923:Ccdc50 UTSW 16 27444544 missense probably damaging 1.00
R4624:Ccdc50 UTSW 16 27436601 missense probably null 0.77
R5057:Ccdc50 UTSW 16 27438342 missense probably benign 0.00
R5339:Ccdc50 UTSW 16 27417305 missense probably damaging 0.99
R7673:Ccdc50 UTSW 16 27406675 missense possibly damaging 0.84
R8355:Ccdc50 UTSW 16 27417351 missense probably benign 0.04
R8744:Ccdc50 UTSW 16 27436398 missense possibly damaging 0.92
Posted On2015-04-16