Incidental Mutation 'R9472:Ccdc153'
ID 715528
Institutional Source Beutler Lab
Gene Symbol Ccdc153
Ensembl Gene ENSMUSG00000070306
Gene Name coiled-coil domain containing 153
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R9472 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44151961-44158240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44154923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 104 (Q104L)
Ref Sequence ENSEMBL: ENSMUSP00000090082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034618] [ENSMUST00000092426] [ENSMUST00000213891] [ENSMUST00000215554] [ENSMUST00000215711] [ENSMUST00000216632] [ENSMUST00000217221] [ENSMUST00000217510]
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 possibly damaging
Transcript: ENSMUST00000092426
AA Change: Q104L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090082
Gene: ENSMUSG00000070306
AA Change: Q104L

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
coiled coil region 26 148 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000213891
AA Change: Q104L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215554
AA Change: Q49L

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215711
AA Change: Q67L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216632
AA Change: Q82L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217221
AA Change: Q82L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217510
AA Change: Q104L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T G 8: 25,127,248 (GRCm39) K449N probably benign Het
Adam39 G A 8: 41,279,351 (GRCm39) V581I possibly damaging Het
Agrn A G 4: 156,254,841 (GRCm39) F1625S Het
Aox3 G T 1: 58,215,669 (GRCm39) V1034L possibly damaging Het
Baz2a T G 10: 127,948,624 (GRCm39) S302A probably benign Het
Capn9 T C 8: 125,325,534 (GRCm39) probably null Het
Cdh1 A T 8: 107,380,248 (GRCm39) N168I probably damaging Het
Crisp3 A T 17: 40,539,676 (GRCm39) probably null Het
Ctsb T C 14: 63,379,186 (GRCm39) V266A probably damaging Het
Cyp2c39 G T 19: 39,502,043 (GRCm39) R144L probably damaging Het
Elmo1 C T 13: 20,470,897 (GRCm39) A263V probably benign Het
Enkur T C 2: 21,201,590 (GRCm39) R32G possibly damaging Het
Fsip2 T A 2: 82,817,285 (GRCm39) N4339K possibly damaging Het
Gsn T G 2: 35,182,741 (GRCm39) M268R probably damaging Het
Herc2 T A 7: 55,813,843 (GRCm39) W2659R probably damaging Het
Hycc2 A G 1: 58,574,641 (GRCm39) V300A possibly damaging Het
Ino80e A G 7: 126,461,127 (GRCm39) V40A unknown Het
Ints2 T C 11: 86,133,824 (GRCm39) T409A Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kat2a A G 11: 100,596,197 (GRCm39) V787A probably benign Het
Klhl32 A G 4: 24,629,273 (GRCm39) V465A probably benign Het
Kmt2a C A 9: 44,733,453 (GRCm39) R2288L unknown Het
Megf6 G A 4: 154,333,910 (GRCm39) G213S probably damaging Het
Mt2 T A 8: 94,899,999 (GRCm39) C44S probably damaging Het
Nfe2l1 A G 11: 96,710,159 (GRCm39) V690A probably damaging Het
Obscn T C 11: 58,894,495 (GRCm39) H6670R Het
Or4c111 A C 2: 88,843,517 (GRCm39) I297S possibly damaging Het
Orc4 T C 2: 48,795,563 (GRCm39) T388A probably benign Het
Pcdhb17 C A 18: 37,618,919 (GRCm39) N236K probably damaging Het
Phlpp1 T C 1: 106,308,079 (GRCm39) S1119P probably damaging Het
Plppr3 T C 10: 79,702,711 (GRCm39) D184G probably damaging Het
Rassf6 A T 5: 90,765,572 (GRCm39) Y46* probably null Het
Rmdn2 T A 17: 79,989,096 (GRCm39) I405N possibly damaging Het
Rsbn1l A C 5: 21,113,119 (GRCm39) S468A probably damaging Het
Rslcan18 T C 13: 67,260,296 (GRCm39) K34E probably benign Het
Runx3 A G 4: 134,898,441 (GRCm39) D204G probably damaging Het
Sbf2 A G 7: 109,970,798 (GRCm39) I866T possibly damaging Het
Sgtb A C 13: 104,247,681 (GRCm39) E28D probably benign Het
Slc38a8 T A 8: 120,227,888 (GRCm39) K14M probably damaging Het
Spast T C 17: 74,681,143 (GRCm39) V478A probably damaging Het
Stxbp5 T C 10: 9,719,101 (GRCm39) T147A probably damaging Het
Tmem208 T C 8: 106,055,027 (GRCm39) F79S probably damaging Het
Tmprss7 T C 16: 45,501,052 (GRCm39) I250V probably benign Het
Usp24 A G 4: 106,261,128 (GRCm39) T1628A probably benign Het
Vmn2r14 G T 5: 109,367,962 (GRCm39) N343K probably benign Het
Xrcc6 T A 15: 81,913,328 (GRCm39) Y320* probably null Het
Zbtb10 A C 3: 9,343,355 (GRCm39) T627P probably benign Het
Zfp532 A T 18: 65,756,624 (GRCm39) K186* probably null 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
R1378:Ccdc153 UTSW 9 44,154,958 (GRCm39) missense probably null 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
Predicted Primers PCR Primer
(F):5'- TCAAGGTCTCCCAAGTTTCTTAG -3'
(R):5'- TAACTCCAGCCCTGACAGAG -3'

Sequencing Primer
(F):5'- AGTTCTGTGTCTCCGCCGAG -3'
(R):5'- ACAGAGAGGTTTGTGTCACTGAACTC -3'
Posted On 2022-06-15