Incidental Mutation 'R1302:Ccdc68'
ID 158460
Institutional Source Beutler Lab
Gene Symbol Ccdc68
Ensembl Gene ENSMUSG00000038903
Gene Name coiled-coil domain containing 68
Synonyms
MMRRC Submission 039368-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R1302 (G1)
Quality Score 165
Status Not validated
Chromosome 18
Chromosomal Location 70058497-70102555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70072033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 37 (V37M)
Ref Sequence ENSEMBL: ENSMUSP00000078959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043929] [ENSMUST00000080050]
AlphaFold Q8BVC4
Predicted Effect probably damaging
Transcript: ENSMUST00000043929
AA Change: V37M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046197
Gene: ENSMUSG00000038903
AA Change: V37M

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
coiled coil region 86 120 N/A INTRINSIC
coiled coil region 160 223 N/A INTRINSIC
coiled coil region 250 303 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000080050
AA Change: V37M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078959
Gene: ENSMUSG00000038903
AA Change: V37M

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
coiled coil region 86 120 N/A INTRINSIC
coiled coil region 160 206 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151773
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.3%
  • 20x: 86.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik A T 8: 125,566,607 (GRCm39) I271N probably damaging Het
5031439G07Rik A G 15: 84,837,477 (GRCm39) Y279H probably damaging Het
Abcg2 T A 6: 58,662,802 (GRCm39) M548K probably damaging Het
Acat1 T C 9: 53,500,525 (GRCm39) D257G possibly damaging Het
Adamts4 G A 1: 171,080,752 (GRCm39) G360R probably damaging Het
Akr1c12 T C 13: 4,322,328 (GRCm39) D238G probably damaging Het
Ankrd1 C T 19: 36,092,403 (GRCm39) G275S probably damaging Het
Ascc3 T A 10: 50,480,890 (GRCm39) M1K probably null Het
Atf7ip2 T C 16: 10,058,472 (GRCm39) S304P possibly damaging Het
Casp4 T A 9: 5,328,518 (GRCm39) C333* probably null Het
Cda T A 4: 138,078,502 (GRCm39) I87F probably damaging Het
Chst1 A T 2: 92,443,864 (GRCm39) D112V probably damaging Het
Chtf18 T C 17: 25,938,132 (GRCm39) D967G probably damaging Het
Col5a1 A G 2: 27,895,248 (GRCm39) R1106G probably damaging Het
Coro1b T G 19: 4,199,376 (GRCm39) F12V probably damaging Het
Ctif G T 18: 75,654,749 (GRCm39) P259Q probably benign Het
Duox1 A T 2: 122,177,760 (GRCm39) I1515F probably benign Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Flt1 A G 5: 147,501,050 (GRCm39) Y1328H possibly damaging Het
Frem2 T C 3: 53,562,959 (GRCm39) D516G probably benign Het
Gin1 A T 1: 97,703,314 (GRCm39) K46* probably null Het
Gle1 C G 2: 29,842,564 (GRCm39) probably null Het
Gm11146 T G 16: 77,398,970 (GRCm39) I5L unknown Het
Gpr153 C T 4: 152,364,400 (GRCm39) T152M probably damaging Het
H1f8 A T 6: 115,924,610 (GRCm39) R39* probably null Het
Hdlbp A T 1: 93,351,107 (GRCm39) probably null Het
Ifi207 A T 1: 173,562,861 (GRCm39) L95Q possibly damaging Het
Ikzf3 G T 11: 98,407,746 (GRCm39) P32T probably benign Het
Ints10 T A 8: 69,279,964 (GRCm39) V697E probably damaging Het
Krt14 A G 11: 100,094,173 (GRCm39) S474P probably damaging Het
L3mbtl3 T A 10: 26,203,667 (GRCm39) I388F unknown Het
Ldha A C 7: 46,497,063 (GRCm39) Q7P probably damaging Het
Lrwd1 A G 5: 136,161,267 (GRCm39) S232P probably benign Het
Med1 G T 11: 98,048,275 (GRCm39) D840E possibly damaging Het
Med23 T A 10: 24,764,320 (GRCm39) probably null Het
Naip5 G A 13: 100,358,099 (GRCm39) P1046S possibly damaging Het
Ndufa4l2 A T 10: 127,351,301 (GRCm39) M31L probably benign Het
Nlrp4f A G 13: 65,342,371 (GRCm39) S425P possibly damaging Het
Nova1 A T 12: 46,767,581 (GRCm39) H113Q unknown Het
Npc1 T C 18: 12,328,142 (GRCm39) K1056E probably benign Het
Nrbp1 A G 5: 31,407,233 (GRCm39) H354R probably benign Het
Ogfod3 A G 11: 121,074,300 (GRCm39) F250L probably damaging Het
Pclo A G 5: 14,731,647 (GRCm39) D3383G unknown Het
Pde1b T A 15: 103,436,026 (GRCm39) D457E probably benign Het
Pkd1 C G 17: 24,787,210 (GRCm39) S581R probably benign Het
Pno1 T A 11: 17,154,545 (GRCm39) Q212L probably benign Het
Polr3b C T 10: 84,468,350 (GRCm39) P112L probably damaging Het
Pomk T A 8: 26,473,102 (GRCm39) I284F probably damaging Het
Rapgef4 A T 2: 71,875,504 (GRCm39) D119V probably benign Het
Rprm A T 2: 53,975,165 (GRCm39) L51Q probably benign Het
Spata31e5 A T 1: 28,815,421 (GRCm39) D870E probably benign Het
Taok3 A C 5: 117,337,108 (GRCm39) S58R possibly damaging Het
Tmprss9 T A 10: 80,730,963 (GRCm39) S830T probably benign Het
Tnfrsf1a G A 6: 125,333,879 (GRCm39) C44Y probably damaging Het
Ubr5 A T 15: 38,041,723 (GRCm39) D235E possibly damaging Het
Vapb C A 2: 173,613,330 (GRCm39) F76L possibly damaging Het
Vmn2r72 T C 7: 85,387,465 (GRCm39) I700V probably damaging Het
Wwc1 G A 11: 35,734,984 (GRCm39) R964W probably damaging Het
Zfp644 A T 5: 106,782,765 (GRCm39) V1203D probably damaging Het
Other mutations in Ccdc68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Ccdc68 APN 18 70,089,117 (GRCm39) missense probably benign 0.25
IGL02754:Ccdc68 APN 18 70,076,935 (GRCm39) critical splice donor site probably null
IGL02851:Ccdc68 APN 18 70,080,236 (GRCm39) nonsense probably null
R0412:Ccdc68 UTSW 18 70,093,510 (GRCm39) missense probably damaging 1.00
R0617:Ccdc68 UTSW 18 70,079,623 (GRCm39) splice site probably null
R1497:Ccdc68 UTSW 18 70,093,585 (GRCm39) intron probably benign
R1553:Ccdc68 UTSW 18 70,073,192 (GRCm39) missense probably damaging 1.00
R1590:Ccdc68 UTSW 18 70,073,251 (GRCm39) missense probably benign 0.07
R1748:Ccdc68 UTSW 18 70,089,062 (GRCm39) missense probably benign 0.27
R5589:Ccdc68 UTSW 18 70,079,577 (GRCm39) missense probably benign
R6766:Ccdc68 UTSW 18 70,099,861 (GRCm39) missense probably damaging 1.00
R7096:Ccdc68 UTSW 18 70,073,241 (GRCm39) missense probably damaging 0.96
R7359:Ccdc68 UTSW 18 70,089,123 (GRCm39) missense probably benign 0.02
R7485:Ccdc68 UTSW 18 70,102,084 (GRCm39) missense possibly damaging 0.94
R7849:Ccdc68 UTSW 18 70,080,246 (GRCm39) missense probably damaging 1.00
R8256:Ccdc68 UTSW 18 70,072,018 (GRCm39) nonsense probably null
R9229:Ccdc68 UTSW 18 70,080,203 (GRCm39) missense probably benign 0.31
R9374:Ccdc68 UTSW 18 70,089,113 (GRCm39) missense probably damaging 0.98
R9551:Ccdc68 UTSW 18 70,089,113 (GRCm39) missense probably damaging 0.98
R9552:Ccdc68 UTSW 18 70,089,113 (GRCm39) missense probably damaging 0.98
R9599:Ccdc68 UTSW 18 70,093,492 (GRCm39) missense probably damaging 1.00
X0065:Ccdc68 UTSW 18 70,094,532 (GRCm39) missense probably benign 0.17
Z1177:Ccdc68 UTSW 18 70,080,121 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AATGAATACATCAGCGGCCCGCTC -3'
(R):5'- GGTTATCAAGCAGCAGGAAACCCAG -3'

Sequencing Primer
(F):5'- CTCCAGTTACGATGAACCTCC -3'
(R):5'- GAGAGGTATTCTGAACCCTCCTG -3'
Posted On 2014-02-18