Incidental Mutation 'R1378:Ccdc153'
ID 162956
Institutional Source Beutler Lab
Gene Symbol Ccdc153
Ensembl Gene ENSMUSG00000070306
Gene Name coiled-coil domain containing 153
Synonyms
MMRRC Submission 039442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1378 (G1)
Quality Score 102
Status Validated
Chromosome 9
Chromosomal Location 44151961-44158240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 44154958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 94 (L94V)
Ref Sequence ENSEMBL: ENSMUSP00000150478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034618] [ENSMUST00000092426] [ENSMUST00000213891] [ENSMUST00000215554] [ENSMUST00000215711] [ENSMUST00000216632] [ENSMUST00000217510] [ENSMUST00000217221]
AlphaFold P0C7Q1
Predicted Effect probably benign
Transcript: ENSMUST00000034618
SMART Domains Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
PDZ 58 130 2.04e-15 SMART
PDZ 165 235 2.93e-7 SMART
PDZ 271 346 2.47e-14 SMART
PDZ 403 475 1.4e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000092426
AA Change: L116V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090082
Gene: ENSMUSG00000070306
AA Change: L116V

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
coiled coil region 26 148 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000213891
AA Change: L116V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably null
Transcript: ENSMUST00000215554
AA Change: L61V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably null
Transcript: ENSMUST00000215711
AA Change: L79V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216047
Predicted Effect probably null
Transcript: ENSMUST00000216632
AA Change: L94V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably null
Transcript: ENSMUST00000217510
AA Change: L116V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably null
Transcript: ENSMUST00000217221
AA Change: L94V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216995
Meta Mutation Damage Score 0.0993 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,126,030 (GRCm39) T342A probably damaging Het
Alg1 A G 16: 5,061,580 (GRCm39) N406D probably damaging Het
Atp13a4 A T 16: 29,239,246 (GRCm39) M825K probably damaging Het
Birc6 T A 17: 74,967,450 (GRCm39) I4117K probably damaging Het
Brinp2 A T 1: 158,074,624 (GRCm39) L499Q possibly damaging Het
Brwd1 A T 16: 95,842,570 (GRCm39) V789D probably benign Het
Ccna1 A G 3: 54,957,150 (GRCm39) V237A probably damaging Het
Cct7 T A 6: 85,444,545 (GRCm39) probably null Het
Cenpb C T 2: 131,020,230 (GRCm39) probably benign Het
Chrne T A 11: 70,505,956 (GRCm39) probably null Het
Clstn3 T A 6: 124,415,378 (GRCm39) D662V probably damaging Het
Clu G T 14: 66,212,350 (GRCm39) C189F probably damaging Het
Cstdc5 A G 16: 36,179,929 (GRCm39) C63R probably benign Het
Cul7 C T 17: 46,973,052 (GRCm39) R1388C probably damaging Het
Dgka T C 10: 128,571,696 (GRCm39) probably null Het
Dop1b A G 16: 93,567,280 (GRCm39) T1236A probably benign Het
Edn2 A G 4: 120,019,095 (GRCm39) E28G probably benign Het
Elp3 T C 14: 65,830,380 (GRCm39) I24V probably benign Het
Faap24 T C 7: 35,092,326 (GRCm39) E197G probably benign Het
Fam13a T A 6: 58,933,736 (GRCm39) M285L probably benign Het
Gm9944 T A 4: 144,179,773 (GRCm39) probably benign Het
Gsdmc3 T C 15: 63,731,435 (GRCm39) probably benign Het
Gvin3 T A 7: 106,201,373 (GRCm39) I624F probably damaging Het
Ift22 A C 5: 136,941,757 (GRCm39) K133T probably benign Het
Il23r T A 6: 67,429,394 (GRCm39) K316I possibly damaging Het
Klra17 T A 6: 129,842,647 (GRCm39) E217V probably damaging Het
Nell2 A T 15: 95,130,402 (GRCm39) V657E probably damaging Het
Nlrp4d C A 7: 10,098,111 (GRCm39) K850N probably benign Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Or10d4 T C 9: 39,580,962 (GRCm39) L203P probably damaging Het
Or4p8 T A 2: 88,727,370 (GRCm39) R190S probably benign Het
Or52s1b T C 7: 102,822,475 (GRCm39) D123G probably damaging Het
Or52z14 A T 7: 103,253,145 (GRCm39) R95* probably null Het
Pclo T C 5: 14,732,327 (GRCm39) S3610P probably benign Het
Pon3 T G 6: 5,230,813 (GRCm39) D238A probably benign Het
Ppp4r4 T C 12: 103,547,751 (GRCm39) probably benign Het
Rad18 T C 6: 112,658,297 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,723,711 (GRCm39) Y1652C probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Sel1l T C 12: 91,799,871 (GRCm39) probably null Het
Soat1 A G 1: 156,294,352 (GRCm39) probably benign Het
Tex15 A T 8: 34,065,244 (GRCm39) N1558I probably damaging Het
Tmem132d A T 5: 128,346,011 (GRCm39) F170L probably benign Het
Tro G T X: 149,438,567 (GRCm39) P30Q probably damaging Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Unc45b G A 11: 82,827,678 (GRCm39) S725N probably benign Het
Vmn2r7 A G 3: 64,599,025 (GRCm39) S511P possibly damaging Het
Vps35l G T 7: 118,393,795 (GRCm39) E515* probably null Het
Vps35l A T 7: 118,393,796 (GRCm39) E515V probably damaging Het
Zfp174 G A 16: 3,667,353 (GRCm39) E181K probably benign Het
Other mutations in Ccdc153
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Ccdc153 APN 9 44,154,408 (GRCm39) missense possibly damaging 0.56
IGL02800:Ccdc153 APN 9 44,157,129 (GRCm39) missense probably damaging 1.00
R2228:Ccdc153 UTSW 9 44,154,314 (GRCm39) missense probably damaging 1.00
R4365:Ccdc153 UTSW 9 44,154,889 (GRCm39) missense probably damaging 0.98
R4669:Ccdc153 UTSW 9 44,157,021 (GRCm39) missense probably damaging 0.99
R4726:Ccdc153 UTSW 9 44,154,963 (GRCm39) critical splice donor site probably null
R4876:Ccdc153 UTSW 9 44,152,305 (GRCm39) start codon destroyed probably null 0.99
R5318:Ccdc153 UTSW 9 44,157,062 (GRCm39) nonsense probably null
R6416:Ccdc153 UTSW 9 44,157,077 (GRCm39) missense probably benign 0.16
R9464:Ccdc153 UTSW 9 44,157,011 (GRCm39) missense possibly damaging 0.73
R9472:Ccdc153 UTSW 9 44,154,923 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- GCATGAACAAAATGCAGTGACAGCC -3'
(R):5'- ATAACTCCAGCCCTGACAGAGAGG -3'

Sequencing Primer
(F):5'- TGCAGTGACAGCCCTTAC -3'
(R):5'- AGAGAGGTTTGTGTCACTGAACTC -3'
Posted On 2014-03-17