Incidental Mutation 'R1588:Ccdc134'
ID177667
Institutional Source Beutler Lab
Gene Symbol Ccdc134
Ensembl Gene ENSMUSG00000068114
Gene Namecoiled-coil domain containing 134
Synonyms
MMRRC Submission 039625-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #R1588 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location82127922-82142203 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82135136 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 187 (T187A)
Ref Sequence ENSEMBL: ENSMUSP00000086578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089174] [ENSMUST00000229384] [ENSMUST00000229411] [ENSMUST00000229597]
Predicted Effect probably benign
Transcript: ENSMUST00000089174
AA Change: T187A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000086578
Gene: ENSMUSG00000068114
AA Change: T187A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ERK-JNK_inhib 23 223 1.7e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229384
Predicted Effect probably benign
Transcript: ENSMUST00000229411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229456
Predicted Effect probably benign
Transcript: ENSMUST00000229597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230582
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired liver and vascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,534,072 V869A probably benign Het
Ablim1 C T 19: 57,083,547 M1I probably null Het
Adamts13 A T 2: 26,975,675 I81F probably benign Het
Akap11 A T 14: 78,510,245 N1567K possibly damaging Het
Arrdc4 G A 7: 68,741,736 T261M possibly damaging Het
C4b T C 17: 34,741,025 I326V probably benign Het
Casp8ap2 G A 4: 32,640,541 A532T probably benign Het
Ccdc129 A G 6: 55,978,503 E1032G possibly damaging Het
Cdh8 T C 8: 99,190,407 N359D probably damaging Het
Cep97 A G 16: 55,927,821 L82P probably damaging Het
Cfap53 A T 18: 74,307,373 R404S probably benign Het
Chrng C A 1: 87,207,507 F179L probably damaging Het
Ddi1 A T 9: 6,265,391 I326K probably damaging Het
Decr2 T C 17: 26,083,028 T243A possibly damaging Het
Dip2c T C 13: 9,665,864 V1502A probably damaging Het
Edem1 T C 6: 108,841,679 V216A probably damaging Het
Fat2 A C 11: 55,283,404 V2161G probably damaging Het
Fbn1 T C 2: 125,319,114 T2169A probably benign Het
Fmn1 T C 2: 113,365,698 V581A unknown Het
Gm13088 G T 4: 143,655,551 L192M probably damaging Het
Hip1r A T 5: 123,996,575 D350V probably damaging Het
Ift140 G A 17: 25,087,985 R898H probably damaging Het
Il12a A G 3: 68,695,563 I159V probably benign Het
Kl A G 5: 150,982,632 E489G probably benign Het
Klhl3 T C 13: 58,013,898 E461G probably damaging Het
Masp1 T C 16: 23,494,654 Y177C probably damaging Het
Nop58 T A 1: 59,702,872 Y187N probably damaging Het
Npc1l1 A G 11: 6,217,785 V1002A probably benign Het
Ntrk1 A T 3: 87,780,077 Y683* probably null Het
Olfr1053 T C 2: 86,314,530 Y252C probably damaging Het
Olfr1362 C T 13: 21,611,913 D19N probably benign Het
Olfr71 C T 4: 43,705,923 C215Y probably damaging Het
Olfr742 A G 14: 50,516,127 I308V probably benign Het
Osbpl6 T C 2: 76,579,216 V367A probably benign Het
Phip A G 9: 82,900,828 W855R probably damaging Het
Phlpp1 A G 1: 106,380,385 S1131G probably damaging Het
Pkdrej A T 15: 85,817,241 V1498E probably benign Het
Prkaa2 T C 4: 105,051,223 N152D probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Pxdn G A 12: 30,002,559 V732M probably damaging Het
Rccd1 C T 7: 80,320,111 W223* probably null Het
Riox2 T A 16: 59,475,583 S16T possibly damaging Het
Scn5a C T 9: 119,521,301 V836I probably damaging Het
Serpinf1 G A 11: 75,410,250 R380C probably damaging Het
Sf3b1 A T 1: 54,997,177 N912K probably benign Het
Shprh T A 10: 11,164,744 C134S probably damaging Het
Skint8 T A 4: 111,928,727 C123* probably null Het
Slc16a13 G T 11: 70,218,595 S360* probably null Het
Srr A G 11: 74,908,803 I282T possibly damaging Het
Trpm1 T C 7: 64,223,817 F607L possibly damaging Het
Ttn T C 2: 76,709,526 D34372G probably benign Het
Tub C T 7: 109,029,681 T401I probably damaging Het
Wdhd1 T C 14: 47,256,236 E9G probably damaging Het
Wdyhv1 T A 15: 58,157,889 probably null Het
Yipf3 T A 17: 46,250,861 F198Y possibly damaging Het
Zfp955a C T 17: 33,241,817 R447K probably benign Het
Other mutations in Ccdc134
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02746:Ccdc134 APN 15 82131737 intron probably benign
IGL02941:Ccdc134 APN 15 82140950 missense probably damaging 0.98
IGL03071:Ccdc134 APN 15 82134625 missense possibly damaging 0.71
IGL03278:Ccdc134 APN 15 82131481 missense possibly damaging 0.56
IGL03308:Ccdc134 APN 15 82131520 missense probably damaging 1.00
IGL03014:Ccdc134 UTSW 15 82130105 missense probably damaging 0.99
R0077:Ccdc134 UTSW 15 82131737 intron probably benign
R0243:Ccdc134 UTSW 15 82140946 missense probably damaging 0.98
R1107:Ccdc134 UTSW 15 82134691 missense possibly damaging 0.92
R1107:Ccdc134 UTSW 15 82134694 missense probably damaging 1.00
R3874:Ccdc134 UTSW 15 82131442 missense possibly damaging 0.96
R6696:Ccdc134 UTSW 15 82131521 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGGGGCCTAACTTCTGTGCTAAC -3'
(R):5'- GAGAAACAGTGACTTGCCAAAACCG -3'

Sequencing Primer
(F):5'- AGGGATTGTTTCTGGCCCATATC -3'
(R):5'- acttgccaaaaccgtcaataac -3'
Posted On2014-04-24