Incidental Mutation 'R9577:Ccdc71'
ID 722368
Institutional Source Beutler Lab
Gene Symbol Ccdc71
Ensembl Gene ENSMUSG00000049305
Gene Name coiled-coil domain containing 71
Synonyms 2600016J21Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R9577 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108337726-108343137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108340472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 95 (A95V)
Ref Sequence ENSEMBL: ENSMUSP00000057891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061209] [ENSMUST00000193170] [ENSMUST00000193269] [ENSMUST00000193286] [ENSMUST00000193895]
AlphaFold Q8VEG0
Predicted Effect possibly damaging
Transcript: ENSMUST00000061209
AA Change: A95V

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057891
Gene: ENSMUSG00000049305
AA Change: A95V

DomainStartEndE-ValueType
Pfam:CCDC71L 8 430 4.7e-168 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000193170
AA Change: A95V

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142230
Gene: ENSMUSG00000049305
AA Change: A95V

DomainStartEndE-ValueType
Pfam:CCDC71L 8 430 3.1e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193269
SMART Domains Protein: ENSMUSP00000141937
Gene: ENSMUSG00000049305

DomainStartEndE-ValueType
Pfam:CCDC71L 8 93 5.3e-56 PFAM
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
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik G T 18: 24,608,663 (GRCm39) A128S probably benign Het
Abca14 T C 7: 119,810,768 (GRCm39) Y116H probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ankar C A 1: 72,721,067 (GRCm39) V464L probably benign Het
Arap2 A T 5: 62,769,060 (GRCm39) I1526N probably damaging Het
Atad5 T A 11: 80,004,996 (GRCm39) N1144K probably damaging Het
B3gntl1 T C 11: 121,515,040 (GRCm39) T243A probably benign Het
Baz2b T C 2: 59,809,031 (GRCm39) T73A probably benign Het
Bnip5 A T 17: 29,128,382 (GRCm39) I177K probably benign Het
Brms1l A G 12: 55,906,876 (GRCm39) S148G probably damaging Het
Btnl1 A G 17: 34,603,335 (GRCm39) D332G probably benign Het
Card9 T A 2: 26,242,344 (GRCm39) T531S probably damaging Het
Cdh23 A G 10: 60,146,895 (GRCm39) V2787A probably damaging Het
Chd7 A G 4: 8,752,964 (GRCm39) E487G unknown Het
Col22a1 T C 15: 71,837,595 (GRCm39) K505R probably damaging Het
Dennd1b T C 1: 139,018,196 (GRCm39) V180A Het
Dmxl2 A G 9: 54,323,664 (GRCm39) V1066A unknown Het
Dnah9 C T 11: 65,867,347 (GRCm39) V2744M probably benign Het
Fam83e G T 7: 45,376,439 (GRCm39) R384L possibly damaging Het
Fbxo42 T A 4: 140,907,743 (GRCm39) Y134* probably null Het
Fmn1 C T 2: 113,194,470 (GRCm39) P57S unknown Het
Gm6309 T C 5: 146,105,700 (GRCm39) R155G possibly damaging Het
Gnpda1 T C 18: 38,463,605 (GRCm39) T235A probably benign Het
Gsdmc2 T A 15: 63,696,906 (GRCm39) I422F probably damaging Het
Itfg1 A G 8: 86,502,798 (GRCm39) V256A probably benign Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Kif14 T C 1: 136,399,138 (GRCm39) V433A probably benign Het
Kif3a T C 11: 53,475,231 (GRCm39) F363S probably damaging Het
Lman2l T C 1: 36,467,490 (GRCm39) D186G probably damaging Het
Lmntd2 T C 7: 140,790,990 (GRCm39) T448A probably benign Het
Magi2 C T 5: 20,814,282 (GRCm39) A898V probably damaging Het
Mri1 A G 8: 84,982,929 (GRCm39) V164A probably damaging Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Nxpe2 G A 9: 48,237,632 (GRCm39) R208* probably null Het
Or1j1 C A 2: 36,702,567 (GRCm39) C179F probably damaging Het
Or8g28 A G 9: 39,169,737 (GRCm39) V77A possibly damaging Het
Pcdha12 C T 18: 37,155,126 (GRCm39) A615V probably benign Het
Pou4f3 C G 18: 42,528,563 (GRCm39) P169A probably benign Het
Pramel52-ps A T 5: 94,531,805 (GRCm39) R230* probably null Het
Prss36 T C 7: 127,533,673 (GRCm39) I556V probably benign Het
Psg23 A T 7: 18,346,067 (GRCm39) D209E probably benign Het
Ptpn13 C A 5: 103,676,675 (GRCm39) D679E probably damaging Het
Ptprz1 G T 6: 23,002,202 (GRCm39) D1431Y probably damaging Het
Sdccag8 T A 1: 176,658,629 (GRCm39) L143M probably damaging Het
Shroom1 A G 11: 53,357,612 (GRCm39) Q721R probably benign Het
Spdye4b A G 5: 143,182,055 (GRCm39) M118V probably damaging Het
Tbc1d1 T A 5: 64,473,699 (GRCm39) S741T possibly damaging Het
Tbx18 A G 9: 87,611,512 (GRCm39) probably null Het
Tm9sf4 T C 2: 153,037,294 (GRCm39) F385S probably benign Het
Trpm4 A T 7: 44,954,432 (GRCm39) L1133* probably null Het
Trpm5 A G 7: 142,633,131 (GRCm39) probably null Het
Ube4b A G 4: 149,468,231 (GRCm39) S182P possibly damaging Het
Ugt2b36 T C 5: 87,228,784 (GRCm39) T420A probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Zc3h6 T A 2: 128,858,102 (GRCm39) I711K Het
Zer1 T C 2: 29,991,050 (GRCm39) Y726C 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
R1415:Ccdc71 UTSW 9 108,340,407 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- CATGAGCCAGGATCTCAGTG -3'
(R):5'- GTGCTTCAAGGACCACAGAG -3'

Sequencing Primer
(F):5'- CAGGATCTCAGTGCCACAGAG -3'
(R):5'- GGAAGCCTACTGTTGTACCACTG -3'
Posted On 2022-08-09