Incidental Mutation 'R1415:Ccdc71'
ID 159777
Institutional Source Beutler Lab
Gene Symbol Ccdc71
Ensembl Gene ENSMUSG00000049305
Gene Name coiled-coil domain containing 71
Synonyms 2600016J21Rik
MMRRC Submission 039471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R1415 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108337726-108343137 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 108340407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 73 (Y73*)
Ref Sequence ENSEMBL: ENSMUSP00000141937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061209] [ENSMUST00000193170] [ENSMUST00000193269] [ENSMUST00000193895] [ENSMUST00000193286]
AlphaFold Q8VEG0
Predicted Effect probably null
Transcript: ENSMUST00000061209
AA Change: Y73*
SMART Domains Protein: ENSMUSP00000057891
Gene: ENSMUSG00000049305
AA Change: Y73*

DomainStartEndE-ValueType
Pfam:CCDC71L 8 430 4.7e-168 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192210
Predicted Effect probably null
Transcript: ENSMUST00000193170
AA Change: Y73*
SMART Domains Protein: ENSMUSP00000142230
Gene: ENSMUSG00000049305
AA Change: Y73*

DomainStartEndE-ValueType
Pfam:CCDC71L 8 430 3.1e-151 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000193269
AA Change: Y73*
SMART Domains Protein: ENSMUSP00000141937
Gene: ENSMUSG00000049305
AA Change: Y73*

DomainStartEndE-ValueType
Pfam:CCDC71L 8 93 5.3e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195869
Predicted Effect probably benign
Transcript: ENSMUST00000193895
SMART Domains Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609

DomainStartEndE-ValueType
Kelch 32 79 2.08e-6 SMART
Kelch 80 127 1.9e-1 SMART
Kelch 128 174 1.76e-4 SMART
Kelch 176 222 3.74e-8 SMART
Kelch 239 281 8.33e0 SMART
Kelch 282 329 3.83e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193286
SMART Domains Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609

DomainStartEndE-ValueType
Kelch 32 79 2.08e-6 SMART
Kelch 80 127 1.9e-1 SMART
Kelch 128 174 1.76e-4 SMART
Kelch 176 222 3.74e-8 SMART
Kelch 239 281 8.33e0 SMART
Kelch 282 329 3.83e-5 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,303,982 (GRCm39) V135A probably benign Het
Adam21 C T 12: 81,606,321 (GRCm39) W480* probably null Het
Cfap44 T A 16: 44,301,752 (GRCm39) I1830N probably damaging Het
Dnajb11 T C 16: 22,689,371 (GRCm39) V264A probably benign Het
Fam135b T C 15: 71,328,777 (GRCm39) E1174G probably damaging Het
Fam83e G A 7: 45,376,135 (GRCm39) E283K probably damaging Het
Gigyf1 A G 5: 137,517,478 (GRCm39) probably null Het
Letm1 A T 5: 33,926,906 (GRCm39) N130K probably benign Het
Lrp1b T C 2: 40,519,676 (GRCm39) Y137C probably damaging Het
Map3k2 A G 18: 32,361,330 (GRCm39) I597V possibly damaging Het
Nek1 A G 8: 61,542,720 (GRCm39) E770G probably benign Het
Or4d2b A C 11: 87,780,473 (GRCm39) V83G possibly damaging Het
Or52n2b A G 7: 104,565,543 (GRCm39) I320T probably benign Het
Pank2 T A 2: 131,124,638 (GRCm39) Y68* probably null Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Secisbp2l C A 2: 125,582,285 (GRCm39) G1057V probably benign Het
Slc30a2 C T 4: 134,076,660 (GRCm39) T265M probably damaging Het
Smarca2 A G 19: 26,688,084 (GRCm39) E1239G probably null Het
Snx30 C T 4: 59,879,261 (GRCm39) R167C probably damaging Het
Tmem26 T C 10: 68,614,491 (GRCm39) F302S possibly damaging Het
Tpgs2 A G 18: 25,301,610 (GRCm39) L19S probably damaging Het
Trp53bp1 T G 2: 121,066,665 (GRCm39) E687A probably damaging Het
Ttc27 C T 17: 75,046,667 (GRCm39) H243Y probably benign Het
Wdfy4 A T 14: 32,763,137 (GRCm39) V2318D possibly damaging Het
Wdr59 G A 8: 112,225,228 (GRCm39) P141S probably damaging Het
Zbed6 C T 1: 133,585,556 (GRCm39) V594M possibly damaging Het
Zfp787 C A 7: 6,135,694 (GRCm39) G186C probably damaging Het
Other mutations in Ccdc71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Ccdc71 APN 9 108,340,237 (GRCm39) missense probably damaging 1.00
IGL00428:Ccdc71 APN 9 108,341,354 (GRCm39) missense probably damaging 1.00
R0158:Ccdc71 UTSW 9 108,341,336 (GRCm39) missense probably benign 0.01
R1328:Ccdc71 UTSW 9 108,340,148 (GRCm39) unclassified probably benign
R4721:Ccdc71 UTSW 9 108,340,622 (GRCm39) missense possibly damaging 0.61
R5144:Ccdc71 UTSW 9 108,341,051 (GRCm39) missense probably benign
R6379:Ccdc71 UTSW 9 108,340,811 (GRCm39) missense possibly damaging 0.82
R7406:Ccdc71 UTSW 9 108,340,523 (GRCm39) nonsense probably null
R8097:Ccdc71 UTSW 9 108,340,751 (GRCm39) missense probably benign
R9577:Ccdc71 UTSW 9 108,340,472 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- CCAAGTGCTGGTTTGTGGATACCC -3'
(R):5'- ACTGTTGTACCACTGCTGTTGCTG -3'

Sequencing Primer
(F):5'- TTTGTGGATACCCAGGCAAGC -3'
(R):5'- GCTCAGCAGCAGGTTAGTG -3'
Posted On 2014-03-14