Incidental Mutation 'R5016:Ccdc158'
ID 385568
Institutional Source Beutler Lab
Gene Symbol Ccdc158
Ensembl Gene ENSMUSG00000050050
Gene Name coiled-coil domain containing 158
Synonyms 4932413O14Rik
MMRRC Submission 042607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R5016 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 92756096-92823327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92805751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 335 (S335P)
Ref Sequence ENSEMBL: ENSMUSP00000117894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060930] [ENSMUST00000150359] [ENSMUST00000151180]
AlphaFold Q8CDI6
Predicted Effect probably benign
Transcript: ENSMUST00000060930
AA Change: S335P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050
AA Change: S335P

DomainStartEndE-ValueType
Pfam:CCDC158 1 1109 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150359
AA Change: S335P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000123259
Gene: ENSMUSG00000050050
AA Change: S335P

DomainStartEndE-ValueType
Pfam:CCDC158 1 346 1.5e-220 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151180
AA Change: S335P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000117894
Gene: ENSMUSG00000050050
AA Change: S335P

DomainStartEndE-ValueType
coiled coil region 71 105 N/A INTRINSIC
coiled coil region 127 166 N/A INTRINSIC
coiled coil region 244 343 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 91.0%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,491,631 (GRCm39) P768S probably damaging Het
Adprhl1 A G 8: 13,274,889 (GRCm39) L623P possibly damaging Het
Anapc1 A T 2: 128,449,095 (GRCm39) probably benign Het
Ankzf1 C A 1: 75,172,622 (GRCm39) probably benign Het
Ash1l A G 3: 88,889,630 (GRCm39) D503G probably damaging Het
Atp7b T C 8: 22,505,885 (GRCm39) probably null Het
Bach1 T A 16: 87,516,206 (GRCm39) V249D possibly damaging Het
Chd9 T A 8: 91,733,254 (GRCm39) C1374* probably null Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cygb A G 11: 116,540,840 (GRCm39) F49L probably benign Het
Dnah17 G C 11: 117,971,592 (GRCm39) T2147S probably damaging Het
Drd3 C A 16: 43,582,609 (GRCm39) A34E possibly damaging Het
Ephb6 G A 6: 41,595,041 (GRCm39) R685Q probably benign Het
Ezh1 G A 11: 101,090,063 (GRCm39) probably benign Het
Gpr19 T A 6: 134,846,880 (GRCm39) K231* probably null Het
Gpr61 A G 3: 108,057,983 (GRCm39) V226A possibly damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hnrnpul2 A G 19: 8,800,189 (GRCm39) K185R possibly damaging Het
Igsf9 A C 1: 172,318,279 (GRCm39) T140P probably damaging Het
Ksr2 A G 5: 117,638,857 (GRCm39) D87G probably benign Het
Llgl2 A G 11: 115,744,250 (GRCm39) E843G probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Luc7l2 A G 6: 38,562,036 (GRCm39) I20V possibly damaging Het
Mcm6 G A 1: 128,271,164 (GRCm39) T485M probably damaging Het
Miox A G 15: 89,219,767 (GRCm39) D85G probably null Het
Nudt18 T C 14: 70,816,903 (GRCm39) F169S probably benign Het
Nxpe4 A G 9: 48,304,185 (GRCm39) N91D probably benign Het
Or13c7 T C 4: 43,854,596 (GRCm39) S96P probably benign Het
Or6c215 A G 10: 129,637,662 (GRCm39) V244A probably benign Het
Or8k39 T G 2: 86,563,090 (GRCm39) I289L probably benign Het
Pdss2 G T 10: 43,098,001 (GRCm39) A82S probably damaging Het
Ptprs T C 17: 56,726,070 (GRCm39) D998G probably damaging Het
Rasd2 C A 8: 75,948,603 (GRCm39) N176K probably damaging Het
Serpinb3a A G 1: 106,974,060 (GRCm39) F284L probably damaging Het
Skint6 T A 4: 113,028,730 (GRCm39) probably null Het
Slc12a6 C T 2: 112,186,972 (GRCm39) probably benign Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Sp2 A T 11: 96,846,658 (GRCm39) C562S probably damaging Het
Specc1 A G 11: 62,009,783 (GRCm39) E433G possibly damaging Het
Sspo C T 6: 48,429,214 (GRCm39) Q451* probably null Het
St6galnac1 A T 11: 116,656,706 (GRCm39) S478T probably damaging Het
Steap4 C T 5: 8,026,699 (GRCm39) R221* probably null Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Vmn1r202 A T 13: 22,686,375 (GRCm39) F14Y probably damaging Het
Vmn2r79 T C 7: 86,686,548 (GRCm39) V643A probably benign Het
Vmn2r91 C A 17: 18,330,322 (GRCm39) Y535* probably null Het
Wdr3 A T 3: 100,048,936 (GRCm39) probably benign Het
Wdr95 T C 5: 149,468,266 (GRCm39) M41T probably benign Het
Other mutations in Ccdc158
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Ccdc158 APN 5 92,805,740 (GRCm39) missense probably benign 0.01
IGL00926:Ccdc158 APN 5 92,798,626 (GRCm39) missense probably damaging 0.98
IGL01533:Ccdc158 APN 5 92,757,815 (GRCm39) splice site probably null
IGL01551:Ccdc158 APN 5 92,814,620 (GRCm39) missense probably damaging 0.96
IGL01591:Ccdc158 APN 5 92,809,900 (GRCm39) missense probably benign 0.28
IGL01722:Ccdc158 APN 5 92,810,598 (GRCm39) missense possibly damaging 0.93
IGL02250:Ccdc158 APN 5 92,756,337 (GRCm39) missense probably damaging 1.00
IGL02457:Ccdc158 APN 5 92,797,907 (GRCm39) missense probably damaging 1.00
IGL02570:Ccdc158 APN 5 92,796,885 (GRCm39) missense possibly damaging 0.81
IGL02951:Ccdc158 APN 5 92,797,865 (GRCm39) missense probably damaging 1.00
IGL03275:Ccdc158 APN 5 92,777,491 (GRCm39) missense probably benign 0.00
R0238:Ccdc158 UTSW 5 92,809,977 (GRCm39) missense probably benign 0.31
R0238:Ccdc158 UTSW 5 92,809,977 (GRCm39) missense probably benign 0.31
R0747:Ccdc158 UTSW 5 92,781,156 (GRCm39) missense probably benign 0.00
R1219:Ccdc158 UTSW 5 92,802,040 (GRCm39) splice site probably benign
R1480:Ccdc158 UTSW 5 92,796,903 (GRCm39) missense probably damaging 1.00
R1926:Ccdc158 UTSW 5 92,798,647 (GRCm39) missense probably benign 0.41
R2172:Ccdc158 UTSW 5 92,780,367 (GRCm39) missense probably damaging 1.00
R2245:Ccdc158 UTSW 5 92,757,811 (GRCm39) unclassified probably benign
R3004:Ccdc158 UTSW 5 92,796,929 (GRCm39) missense probably damaging 1.00
R3147:Ccdc158 UTSW 5 92,805,822 (GRCm39) missense probably damaging 1.00
R3693:Ccdc158 UTSW 5 92,757,904 (GRCm39) missense probably damaging 1.00
R3694:Ccdc158 UTSW 5 92,757,904 (GRCm39) missense probably damaging 1.00
R3735:Ccdc158 UTSW 5 92,780,283 (GRCm39) missense possibly damaging 0.60
R3736:Ccdc158 UTSW 5 92,780,283 (GRCm39) missense possibly damaging 0.60
R3912:Ccdc158 UTSW 5 92,796,794 (GRCm39) missense possibly damaging 0.90
R4026:Ccdc158 UTSW 5 92,791,666 (GRCm39) missense probably benign 0.07
R4080:Ccdc158 UTSW 5 92,771,255 (GRCm39) missense probably benign 0.00
R4463:Ccdc158 UTSW 5 92,782,159 (GRCm39) missense probably null 0.99
R4483:Ccdc158 UTSW 5 92,781,187 (GRCm39) missense probably benign 0.01
R4859:Ccdc158 UTSW 5 92,781,262 (GRCm39) missense probably damaging 0.99
R5050:Ccdc158 UTSW 5 92,814,738 (GRCm39) missense probably benign 0.01
R5372:Ccdc158 UTSW 5 92,780,419 (GRCm39) missense possibly damaging 0.55
R5427:Ccdc158 UTSW 5 92,796,821 (GRCm39) missense probably damaging 1.00
R5847:Ccdc158 UTSW 5 92,775,339 (GRCm39) missense probably benign 0.00
R5966:Ccdc158 UTSW 5 92,797,908 (GRCm39) missense probably damaging 1.00
R6106:Ccdc158 UTSW 5 92,775,325 (GRCm39) missense probably benign
R6185:Ccdc158 UTSW 5 92,814,713 (GRCm39) missense possibly damaging 0.73
R6562:Ccdc158 UTSW 5 92,810,581 (GRCm39) missense probably damaging 0.99
R6743:Ccdc158 UTSW 5 92,810,005 (GRCm39) missense probably benign 0.08
R6815:Ccdc158 UTSW 5 92,760,345 (GRCm39) missense probably damaging 0.99
R6914:Ccdc158 UTSW 5 92,809,929 (GRCm39) missense probably benign 0.00
R6975:Ccdc158 UTSW 5 92,814,579 (GRCm39) nonsense probably null
R7252:Ccdc158 UTSW 5 92,798,647 (GRCm39) missense probably benign 0.41
R7477:Ccdc158 UTSW 5 92,798,555 (GRCm39) missense probably damaging 0.96
R7782:Ccdc158 UTSW 5 92,793,373 (GRCm39) missense probably benign 0.00
R8014:Ccdc158 UTSW 5 92,796,889 (GRCm39) missense probably damaging 1.00
R8018:Ccdc158 UTSW 5 92,771,260 (GRCm39) missense possibly damaging 0.64
R8028:Ccdc158 UTSW 5 92,782,110 (GRCm39) missense probably damaging 1.00
X0025:Ccdc158 UTSW 5 92,809,871 (GRCm39) missense probably benign
Z1176:Ccdc158 UTSW 5 92,756,350 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTAGTGTTGTCCCTACACTCTG -3'
(R):5'- TCTAAGAGATGTGAGGGCCC -3'

Sequencing Primer
(F):5'- GTTGTCCCTACACTCTGTGCTAC -3'
(R):5'- TGTGAGGGCCCATAGGGTAC -3'
Posted On 2016-05-10