Incidental Mutation 'R8428:Ccdc17'
ID 653581
Institutional Source Beutler Lab
Gene Symbol Ccdc17
Ensembl Gene ENSMUSG00000034035
Gene Name coiled-coil domain containing 17
Synonyms 1100001F07Rik
MMRRC Submission 067822-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R8428 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 116453927-116457463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116456823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 509 (I509F)
Ref Sequence ENSEMBL: ENSMUSP00000059848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030456] [ENSMUST00000030457] [ENSMUST00000051869] [ENSMUST00000081182]
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 damaging
Transcript: ENSMUST00000051869
AA Change: I509F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035
AA Change: I509F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 A G 10: 126,923,175 (GRCm39) I670V unknown Het
Bcan G T 3: 87,904,405 (GRCm39) T117K probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cbx8 C A 11: 118,929,754 (GRCm39) V280F probably damaging Het
Ccdc117 A T 11: 5,484,350 (GRCm39) S163R possibly damaging Het
Cdon T C 9: 35,403,163 (GRCm39) V1091A probably benign Het
Cntnap5b C T 1: 100,311,310 (GRCm39) T972I probably damaging Het
Dlg2 T C 7: 90,740,240 (GRCm39) L9P possibly damaging Het
Dnah6 T A 6: 73,051,634 (GRCm39) R3053S probably benign Het
Dnah7a T A 1: 53,512,112 (GRCm39) N2983I probably damaging Het
Dnah7c T C 1: 46,711,536 (GRCm39) Y2588H probably damaging Het
Dpysl5 A G 5: 30,902,811 (GRCm39) D81G probably damaging Het
Dscaml1 A G 9: 45,653,884 (GRCm39) D1387G probably benign Het
Exd1 G T 2: 119,369,348 (GRCm39) T89K possibly damaging Het
Ezh2 T A 6: 47,522,745 (GRCm39) R364* probably null Het
Fam161b C T 12: 84,404,369 (GRCm39) D104N probably benign Het
Fbxw8 C A 5: 118,215,763 (GRCm39) V416L probably benign Het
Flnc A T 6: 29,450,849 (GRCm39) D1499V probably benign Het
Fmc1 A T 6: 38,516,115 (GRCm39) R54* probably null Het
Fzr1 A G 10: 81,206,942 (GRCm39) F61S probably damaging Het
Get4 T G 5: 139,251,393 (GRCm39) C160G probably benign Het
Gm32742 G A 9: 51,055,675 (GRCm39) R1330* probably null Het
Gnat3 G A 5: 18,220,312 (GRCm39) A225T possibly damaging Het
Gucy2c A G 6: 136,704,892 (GRCm39) Y541H probably damaging Het
Hand2 A G 8: 57,775,461 (GRCm39) T174A probably benign Het
Helb T C 10: 119,927,522 (GRCm39) T863A probably damaging Het
Hoxa7 A T 6: 52,194,993 (GRCm39) V2D unknown Het
Ifi44 G A 3: 151,444,978 (GRCm39) R325* probably null Het
Igfn1 C T 1: 135,895,520 (GRCm39) G1682E probably damaging Het
Itch A G 2: 155,010,627 (GRCm39) N32D probably benign Het
Kif26b T C 1: 178,744,923 (GRCm39) V1673A probably benign Het
Map1a A T 2: 121,135,418 (GRCm39) D2078V probably benign Het
Mgat4b G T 11: 50,121,512 (GRCm39) V35L probably benign Het
Micu3 G A 8: 40,761,205 (GRCm39) M38I probably benign Het
Myo15a A T 11: 60,387,241 (GRCm39) H706L probably damaging Het
Ndc1 A G 4: 107,226,017 (GRCm39) T42A probably benign Het
Nfat5 T A 8: 108,095,152 (GRCm39) M1131K probably damaging Het
Nop14 G A 5: 34,798,784 (GRCm39) S648L probably damaging Het
Or51k1 G T 7: 103,661,632 (GRCm39) Y92* probably null Het
Otogl A G 10: 107,634,597 (GRCm39) V1413A probably damaging Het
Palb2 T A 7: 121,711,224 (GRCm39) M967L possibly damaging Het
Pira12 G A 7: 3,898,257 (GRCm39) T355I probably benign Het
Ppa2 A G 3: 133,053,904 (GRCm39) K198R probably damaging Het
Prokr1 T C 6: 87,565,756 (GRCm39) T30A probably benign Het
Prss50 C T 9: 110,687,128 (GRCm39) R24C unknown Het
Rbm17 T C 2: 11,605,441 (GRCm39) T38A possibly damaging Het
Rps6ka5 G A 12: 100,541,500 (GRCm39) Q420* probably null Het
Senp6 G T 9: 80,025,794 (GRCm39) R448L probably damaging Het
Senp7 T C 16: 55,999,391 (GRCm39) I838T probably damaging Het
Sf3b2 C T 19: 5,337,242 (GRCm39) S329N possibly damaging Het
Slc13a4 A T 6: 35,245,814 (GRCm39) D610E probably benign Het
Slc24a2 A G 4: 87,145,337 (GRCm39) L239P probably damaging Het
Slc39a5 T A 10: 128,232,884 (GRCm39) H389L probably damaging Het
Syt4 A G 18: 31,577,072 (GRCm39) L94P probably damaging Het
Tgm5 A G 2: 120,879,356 (GRCm39) V560A probably benign Het
Thoc5 A G 11: 4,876,115 (GRCm39) T623A probably damaging Het
Tm7sf2 C T 19: 6,113,074 (GRCm39) V376I probably benign Het
Tmem268 T A 4: 63,496,141 (GRCm39) V194E probably damaging Het
Tpr C A 1: 150,290,564 (GRCm39) R798S probably damaging Het
Trpv5 G T 6: 41,630,182 (GRCm39) T685K possibly damaging Het
Ttn A T 2: 76,584,774 (GRCm39) N22141K probably damaging Het
Txnrd2 T C 16: 18,275,048 (GRCm39) I353T unknown Het
Upk1a A G 7: 30,303,043 (GRCm39) Y252H probably damaging Het
Vmn2r118 A G 17: 55,915,642 (GRCm39) I436T probably benign Het
Vmn2r76 T A 7: 85,874,479 (GRCm39) I833F possibly damaging Het
Zfp277 T C 12: 40,379,577 (GRCm39) H319R probably 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
R1033:Ccdc17 UTSW 4 116,454,077 (GRCm39) nonsense probably null
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
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'- CTTCGGGTCTATCCTAACACCAG -3'
(R):5'- ACGTTGGAGTTAAACTGAGGAC -3'

Sequencing Primer
(F):5'- GGTCTATCCTAACACCAGCCTCAG -3'
(R):5'- TTTAATGAAAAGCAGGGCAAGTGTTC -3'
Posted On 2020-10-20