Incidental Mutation 'PIT4486001:Ccdc121'
ID 556095
Institutional Source Beutler Lab
Gene Symbol Ccdc121
Ensembl Gene ENSMUSG00000029138
Gene Name coiled-coil domain containing 121
Synonyms 4930548H24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # PIT4486001 (G1)
Quality Score 135.008
Status Not validated
Chromosome 5
Chromosomal Location 31643205-31645820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31645087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 280 (I280K)
Ref Sequence ENSEMBL: ENSMUSP00000031020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031020]
AlphaFold Q9D496
Predicted Effect probably damaging
Transcript: ENSMUST00000031020
AA Change: I280K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031020
Gene: ENSMUSG00000029138
AA Change: I280K

DomainStartEndE-ValueType
coiled coil region 151 195 N/A INTRINSIC
Pfam:DUF4515 202 407 2e-77 PFAM
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.5%
  • 10x: 84.1%
  • 20x: 70.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T C 5: 144,980,914 (GRCm39) S108P probably damaging Het
Abhd16b A T 2: 181,135,752 (GRCm39) Q218L probably benign Het
Abhd3 T A 18: 10,645,233 (GRCm39) I354F probably benign Het
Abt1 T C 13: 23,607,851 (GRCm39) Y51C possibly damaging Het
Actl9 T A 17: 33,653,172 (GRCm39) Y411N possibly damaging Het
Ano4 A G 10: 88,828,891 (GRCm39) V516A probably damaging Het
Bptf A T 11: 106,945,614 (GRCm39) S2542T probably damaging Het
Card11 C T 5: 140,862,163 (GRCm39) V1045M probably damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cdh3 A G 8: 107,268,122 (GRCm39) K386E possibly damaging Het
Cks1b C A 3: 89,323,621 (GRCm39) Q49H probably damaging Het
Clpb A T 7: 101,313,139 (GRCm39) D41V probably benign Het
Cyp3a11 A T 5: 145,797,302 (GRCm39) M359K probably damaging Het
Cyp3a13 A T 5: 137,908,228 (GRCm39) I207N probably benign Het
Dennd4c T A 4: 86,717,701 (GRCm39) L566* probably null Het
Dhtkd1 A T 2: 5,904,806 (GRCm39) D859E probably benign Het
Efcab6 T C 15: 83,857,514 (GRCm39) D295G probably benign Het
Fcgbp A G 7: 27,774,698 (GRCm39) T91A possibly damaging Het
Gm11569 GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA GCA 11: 99,689,491 (GRCm39) probably benign Het
Gsdma3 A G 11: 98,528,880 (GRCm39) K454E unknown Het
Herc1 T A 9: 66,279,671 (GRCm39) I193N probably damaging Het
Kdm5b T A 1: 134,556,423 (GRCm39) L1370Q probably damaging Het
Lrrc37 A T 11: 103,509,027 (GRCm39) H980Q unknown Het
Map4 T G 9: 109,901,682 (GRCm39) V965G probably damaging Het
Mkrn2os T C 6: 115,562,444 (GRCm39) D173G probably benign Het
Ndfip2 A G 14: 105,532,300 (GRCm39) D232G probably damaging Het
Nipal2 C T 15: 34,584,875 (GRCm39) G231D probably damaging Het
Notch3 A T 17: 32,373,737 (GRCm39) N490K probably damaging Het
Or5p68 A G 7: 107,945,529 (GRCm39) S220P possibly damaging Het
Or8g50 T A 9: 39,648,535 (GRCm39) C141* probably null Het
Prkar2a T C 9: 108,610,326 (GRCm39) L185S probably damaging Het
Ptpn9 T G 9: 56,968,287 (GRCm39) N542K probably damaging Het
Pus10 G A 11: 23,662,326 (GRCm39) probably null Het
Pyroxd2 A G 19: 42,728,828 (GRCm39) S191P probably benign Het
Rab15 T A 12: 76,848,716 (GRCm39) K122* probably null Het
Rara A G 11: 98,864,321 (GRCm39) N416S possibly damaging Het
Rims2 T C 15: 39,339,916 (GRCm39) V870A possibly damaging Het
Sec16a T C 2: 26,315,785 (GRCm39) T293A Het
Slc26a3 G A 12: 31,520,949 (GRCm39) D718N probably benign Het
Slc44a5 G A 3: 153,964,659 (GRCm39) V520I possibly damaging Het
Spata31e2 G A 1: 26,724,410 (GRCm39) P257S probably damaging Het
Tgfb2 A T 1: 186,422,924 (GRCm39) Y142N probably benign Het
Tgfbi A T 13: 56,777,607 (GRCm39) I364F probably damaging Het
Tmem144 A C 3: 79,734,174 (GRCm39) D176E probably benign Het
Tns4 A T 11: 98,962,161 (GRCm39) L612Q probably damaging Het
Toe1 A G 4: 116,663,692 (GRCm39) L76S probably damaging Het
Trank1 T C 9: 111,219,175 (GRCm39) F1971L probably damaging Het
Tsen54 G T 11: 115,713,422 (GRCm39) V481F probably damaging Het
Uimc1 A G 13: 55,223,381 (GRCm39) L297P probably damaging Het
Wnt8a T C 18: 34,680,636 (GRCm39) Y334H probably damaging Het
Zfp281 A G 1: 136,554,741 (GRCm39) D573G possibly damaging Het
Other mutations in Ccdc121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Ccdc121 APN 5 31,644,771 (GRCm39) missense probably benign 0.00
IGL02009:Ccdc121 APN 5 31,644,835 (GRCm39) missense probably benign 0.00
FR4304:Ccdc121 UTSW 5 31,644,717 (GRCm39) small deletion probably benign
FR4340:Ccdc121 UTSW 5 31,644,717 (GRCm39) small deletion probably benign
FR4342:Ccdc121 UTSW 5 31,644,717 (GRCm39) small deletion probably benign
FR4589:Ccdc121 UTSW 5 31,644,717 (GRCm39) small deletion probably benign
LCD18:Ccdc121 UTSW 5 31,644,717 (GRCm39) small deletion probably benign
R0650:Ccdc121 UTSW 5 31,643,312 (GRCm39) unclassified probably benign
R1366:Ccdc121 UTSW 5 31,644,861 (GRCm39) missense probably benign 0.07
R2050:Ccdc121 UTSW 5 31,643,402 (GRCm39) missense possibly damaging 0.68
R2070:Ccdc121 UTSW 5 31,644,727 (GRCm39) missense possibly damaging 0.91
R2862:Ccdc121 UTSW 5 31,643,255 (GRCm39) unclassified probably benign
R3965:Ccdc121 UTSW 5 31,645,335 (GRCm39) missense probably benign 0.02
R4299:Ccdc121 UTSW 5 31,644,870 (GRCm39) missense possibly damaging 0.82
R4634:Ccdc121 UTSW 5 31,645,435 (GRCm39) missense probably benign 0.01
R4635:Ccdc121 UTSW 5 31,645,435 (GRCm39) missense probably benign 0.01
R4637:Ccdc121 UTSW 5 31,645,435 (GRCm39) missense probably benign 0.01
R4887:Ccdc121 UTSW 5 31,643,596 (GRCm39) missense probably benign 0.19
R5587:Ccdc121 UTSW 5 31,643,428 (GRCm39) missense probably benign
R5897:Ccdc121 UTSW 5 31,643,308 (GRCm39) unclassified probably benign
R6181:Ccdc121 UTSW 5 31,645,399 (GRCm39) missense probably damaging 0.98
R6183:Ccdc121 UTSW 5 31,645,320 (GRCm39) missense probably damaging 0.99
R8028:Ccdc121 UTSW 5 31,645,266 (GRCm39) missense possibly damaging 0.92
R8231:Ccdc121 UTSW 5 31,643,551 (GRCm39) missense probably benign 0.35
R9535:Ccdc121 UTSW 5 31,644,954 (GRCm39) missense probably benign 0.01
R9655:Ccdc121 UTSW 5 31,644,976 (GRCm39) missense probably benign 0.00
RF006:Ccdc121 UTSW 5 31,644,894 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGGCAACTGTGGAATCAGTATG -3'
(R):5'- TCACTTTCTTGGCTGTGGAC -3'

Sequencing Primer
(F):5'- ACTGTGGAATCAGTATGTTCAGGACC -3'
(R):5'- ACTTGAAGAGCTGGGCCTTC -3'
Posted On 2019-06-07