Incidental Mutation 'R1033:Ccdc17'
ID 95223
Institutional Source Beutler Lab
Gene Symbol Ccdc17
Ensembl Gene ENSMUSG00000034035
Gene Name coiled-coil domain containing 17
Synonyms 1100001F07Rik
MMRRC Submission 039132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1033 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116453927-116457463 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 116454077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 32 (R32*)
Ref Sequence ENSEMBL: ENSMUSP00000059848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030456] [ENSMUST00000030457] [ENSMUST00000030460] [ENSMUST00000051869] [ENSMUST00000081182] [ENSMUST00000106475]
AlphaFold Q8CE13
Predicted Effect probably benign
Transcript: ENSMUST00000030456
SMART Domains Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
TPR 43 76 8.51e0 SMART
low complexity region 111 126 N/A INTRINSIC
low complexity region 152 162 N/A INTRINSIC
low complexity region 336 352 N/A INTRINSIC
low complexity region 455 478 N/A INTRINSIC
low complexity region 492 503 N/A INTRINSIC
TPR 528 561 3.05e0 SMART
TPR 570 603 2.38e-2 SMART
low complexity region 620 640 N/A INTRINSIC
low complexity region 703 715 N/A INTRINSIC
low complexity region 742 759 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000030457
SMART Domains Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
TPR 43 76 8.51e0 SMART
low complexity region 111 126 N/A INTRINSIC
low complexity region 133 153 N/A INTRINSIC
low complexity region 167 178 N/A INTRINSIC
TPR 203 236 3.05e0 SMART
TPR 245 278 2.38e-2 SMART
low complexity region 295 315 N/A INTRINSIC
low complexity region 378 390 N/A INTRINSIC
low complexity region 417 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000030460
SMART Domains Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042

DomainStartEndE-ValueType
low complexity region 204 219 N/A INTRINSIC
low complexity region 237 251 N/A INTRINSIC
low complexity region 289 320 N/A INTRINSIC
Pfam:Vasculin 376 470 5.1e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000051869
AA Change: R32*
SMART Domains Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035
AA Change: R32*

DomainStartEndE-ValueType
coiled coil region 97 161 N/A INTRINSIC
coiled coil region 219 270 N/A INTRINSIC
low complexity region 415 427 N/A INTRINSIC
low complexity region 523 537 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081182
SMART Domains Protein: ENSMUSP00000079946
Gene: ENSMUSG00000028693

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
TPR 43 76 6.2e-2 SMART
low complexity region 84 99 N/A INTRINSIC
low complexity region 106 126 N/A INTRINSIC
low complexity region 140 151 N/A INTRINSIC
TPR 176 209 1.4e-2 SMART
TPR 218 251 1.1e-4 SMART
low complexity region 268 288 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
low complexity region 390 407 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106475
SMART Domains Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042

DomainStartEndE-ValueType
low complexity region 204 219 N/A INTRINSIC
low complexity region 237 251 N/A INTRINSIC
low complexity region 289 320 N/A INTRINSIC
Pfam:Vasculin 377 470 1.3e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146777
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Akap6 A C 12: 53,116,005 (GRCm39) D1036A probably damaging Het
Alg6 T C 4: 99,650,270 (GRCm39) S497P probably benign Het
Arhgap10 T A 8: 77,983,976 (GRCm39) I700L possibly damaging Het
Atp11a A G 8: 12,878,555 (GRCm39) Y377C probably damaging Het
Atp2b2 A T 6: 113,770,849 (GRCm39) probably null Het
Card14 T A 11: 119,229,196 (GRCm39) V702D probably damaging Het
Cdh20 A T 1: 110,012,783 (GRCm39) D372V probably damaging Het
Cfap54 A T 10: 92,675,311 (GRCm39) I2870N probably benign Het
Cped1 G T 6: 22,016,950 (GRCm39) V100F probably damaging Het
Dapk1 T C 13: 60,869,679 (GRCm39) probably null Het
Exoc4 G A 6: 33,242,922 (GRCm39) G45D probably damaging Het
Fam110b A T 4: 5,799,440 (GRCm39) N286I probably benign Het
Fbxo10 A T 4: 45,062,236 (GRCm39) C97S probably damaging Het
Frem3 A T 8: 81,421,786 (GRCm39) H2062L probably benign Het
Frk T C 10: 34,484,454 (GRCm39) C476R probably damaging Het
Gm10542 A G 18: 44,337,668 (GRCm39) T49A probably benign Het
Gm128 A G 3: 95,147,322 (GRCm39) V324A possibly damaging Het
Gpr141 C T 13: 19,935,880 (GRCm39) M298I probably benign Het
Gxylt1 T C 15: 93,142,958 (GRCm39) E369G probably benign Het
Hpse2 A G 19: 42,901,638 (GRCm39) V368A probably benign Het
Ice1 A T 13: 70,754,713 (GRCm39) S458T probably damaging Het
Itgb7 T A 15: 102,131,989 (GRCm39) D198V probably damaging Het
Kcnk10 A G 12: 98,484,929 (GRCm39) V72A possibly damaging Het
Magel2 A G 7: 62,029,798 (GRCm39) M901V unknown Het
Mgam A T 6: 40,657,558 (GRCm39) Y971F probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mug1 A T 6: 121,857,510 (GRCm39) D1078V probably damaging Het
Myom2 G A 8: 15,158,934 (GRCm39) R870H probably benign Het
Nek8 A T 11: 78,062,111 (GRCm39) L71Q probably null Het
Nox4 T A 7: 87,023,621 (GRCm39) D502E probably damaging Het
Nsmaf G A 4: 6,438,054 (GRCm39) P73S probably damaging Het
Nup205 C T 6: 35,204,377 (GRCm39) A1421V probably benign Het
Nxpe4 T C 9: 48,304,533 (GRCm39) F207L probably damaging Het
Or1p1 A C 11: 74,179,492 (GRCm39) T7P probably damaging Het
Or3a1 A C 11: 74,225,462 (GRCm39) N198K possibly damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Or5al7 A G 2: 85,993,194 (GRCm39) I33T possibly damaging Het
Pals2 T C 6: 50,160,716 (GRCm39) Y326H probably damaging Het
Prkdc T C 16: 15,585,815 (GRCm39) L2451P probably damaging Het
Rad51ap2 C T 12: 11,506,252 (GRCm39) S58F probably damaging Het
Rbbp8 A G 18: 11,875,762 (GRCm39) R892G probably benign Het
Rock1 A G 18: 10,067,535 (GRCm39) S1333P probably benign Het
Rpl7 A G 1: 16,172,728 (GRCm39) I197T probably benign Het
Sar1a C A 10: 61,521,395 (GRCm39) Q81K probably damaging Het
Shank1 A T 7: 44,006,220 (GRCm39) H1979L possibly damaging Het
Slc10a2 C T 8: 5,154,889 (GRCm39) V99M probably damaging Het
Slc22a30 G A 19: 8,313,165 (GRCm39) Q436* probably null Het
Spata31e2 G A 1: 26,721,466 (GRCm39) P1238L probably benign Het
Speer4a2 T C 5: 26,294,125 (GRCm39) K18E probably benign Het
Szt2 C T 4: 118,244,303 (GRCm39) R1305H probably damaging Het
Ubash3a G A 17: 31,427,186 (GRCm39) G32S probably damaging Het
Vmn1r200 G A 13: 22,580,060 (GRCm39) D279N probably damaging Het
Zbtb8a T C 4: 129,248,014 (GRCm39) D419G possibly damaging Het
Other mutations in Ccdc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01661:Ccdc17 APN 4 116,455,063 (GRCm39) missense probably benign
IGL03106:Ccdc17 APN 4 116,454,033 (GRCm39) splice site probably null
IGL03169:Ccdc17 APN 4 116,454,957 (GRCm39) missense probably damaging 1.00
IGL03288:Ccdc17 APN 4 116,456,626 (GRCm39) missense probably damaging 1.00
dandy UTSW 4 116,456,789 (GRCm39) missense probably damaging 1.00
Dondi UTSW 4 116,455,745 (GRCm39) missense probably damaging 1.00
G5030:Ccdc17 UTSW 4 116,455,699 (GRCm39) missense probably benign 0.42
R0628:Ccdc17 UTSW 4 116,455,745 (GRCm39) missense probably damaging 1.00
R2041:Ccdc17 UTSW 4 116,456,789 (GRCm39) missense probably damaging 1.00
R3107:Ccdc17 UTSW 4 116,455,464 (GRCm39) missense probably benign 0.02
R3122:Ccdc17 UTSW 4 116,456,749 (GRCm39) unclassified probably benign
R4498:Ccdc17 UTSW 4 116,454,438 (GRCm39) unclassified probably benign
R5705:Ccdc17 UTSW 4 116,454,066 (GRCm39) missense probably benign 0.10
R6052:Ccdc17 UTSW 4 116,457,145 (GRCm39) splice site probably null
R6083:Ccdc17 UTSW 4 116,454,123 (GRCm39) missense possibly damaging 0.89
R6925:Ccdc17 UTSW 4 116,455,407 (GRCm39) missense probably damaging 1.00
R7677:Ccdc17 UTSW 4 116,454,962 (GRCm39) critical splice donor site probably null
R7847:Ccdc17 UTSW 4 116,457,103 (GRCm39) missense probably benign 0.34
R8195:Ccdc17 UTSW 4 116,456,213 (GRCm39) missense probably damaging 0.99
R8195:Ccdc17 UTSW 4 116,456,211 (GRCm39) missense possibly damaging 0.75
R8428:Ccdc17 UTSW 4 116,456,823 (GRCm39) missense probably damaging 1.00
R8750:Ccdc17 UTSW 4 116,457,129 (GRCm39) missense possibly damaging 0.93
R9296:Ccdc17 UTSW 4 116,456,586 (GRCm39) missense probably damaging 1.00
R9483:Ccdc17 UTSW 4 116,454,144 (GRCm39) missense probably benign 0.42
R9526:Ccdc17 UTSW 4 116,455,994 (GRCm39) missense possibly damaging 0.69
R9589:Ccdc17 UTSW 4 116,454,791 (GRCm39) missense probably benign 0.25
R9715:Ccdc17 UTSW 4 116,455,090 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGGACCTGGCGATTTAGCAGAC -3'
(R):5'- CAGATGTGCTGGCTTCCTGATCAC -3'

Sequencing Primer
(F):5'- CGATTTAGCAGACTTGGTCTATTC -3'
(R):5'- GGCTTCCTGATCACGGCTC -3'
Posted On 2014-01-05