Incidental Mutation 'R4708:Ccdc62'
ID426167
Institutional Source Beutler Lab
Gene Symbol Ccdc62
Ensembl Gene ENSMUSG00000061882
Gene Namecoiled-coil domain containing 62
SynonymsLOC208908
MMRRC Submission 042017-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4708 (G1)
Quality Score53
Status Validated
Chromosome5
Chromosomal Location123930679-123969895 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 123930862 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023869] [ENSMUST00000094320] [ENSMUST00000094320] [ENSMUST00000165148] [ENSMUST00000165148] [ENSMUST00000166129] [ENSMUST00000166233]
Predicted Effect probably benign
Transcript: ENSMUST00000023869
SMART Domains Protein: ENSMUSP00000023869
Gene: ENSMUSG00000023106

DomainStartEndE-ValueType
Pfam:SUI1 111 184 3.1e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000094320
SMART Domains Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000094320
SMART Domains Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000165148
SMART Domains Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000165148
SMART Domains Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166129
SMART Domains Protein: ENSMUSP00000143501
Gene: ENSMUSG00000105875

DomainStartEndE-ValueType
coiled coil region 16 109 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166233
SMART Domains Protein: ENSMUSP00000126174
Gene: ENSMUSG00000023106

DomainStartEndE-ValueType
Pfam:SUI1 108 183 4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166983
Meta Mutation Damage Score 0.9479 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 97% (68/70)
MGI Phenotype PHENOTYPE: Homozygotes for an ENU-induced mutation or a deletion knockout exhibit male reproductive abnormalities including infertility, low sperm count, abnormal sperm head and tail morphology, very low sperm motility, and low seminal vesicle weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,611,885 G2D probably damaging Het
4930430F08Rik T C 10: 100,578,381 I139V probably benign Het
4930505A04Rik T C 11: 30,454,717 Y62C probably damaging Het
4931408C20Rik A T 1: 26,684,440 V553D possibly damaging Het
Aadacl4 A C 4: 144,623,329 K385N probably benign Het
Abcb4 A T 5: 8,915,125 T332S possibly damaging Het
Aco2 G A 15: 81,909,916 probably null Het
Aplf G T 6: 87,663,757 S69Y probably damaging Het
Arhgap27 A G 11: 103,333,562 probably benign Het
B4galnt1 T A 10: 127,169,815 Y262N probably damaging Het
Bag4 C T 8: 25,769,488 A228T probably benign Het
BC017158 A G 7: 128,274,680 V345A probably benign Het
Cd109 T A 9: 78,672,589 I649K probably benign Het
Cd209b T C 8: 3,924,215 E99G probably damaging Het
Cep290 A G 10: 100,523,264 K952R probably benign Het
Ces2a A G 8: 104,737,306 H190R probably benign Het
Clec14a A G 12: 58,267,703 S378P probably benign Het
Col27a1 A G 4: 63,283,913 Q947R probably benign Het
Dennd3 A G 15: 73,523,495 T146A probably damaging Het
Dpy19l4 T A 4: 11,277,970 M486L probably benign Het
Dysf C A 6: 84,097,715 D499E probably damaging Het
Eif4enif1 T G 11: 3,220,323 H125Q probably damaging Het
Fam35a A G 14: 34,267,833 V372A probably benign Het
Fcgbp A T 7: 28,094,961 M1197L probably benign Het
Fubp3 C T 2: 31,608,110 T92I probably benign Het
Gm19426 T C 2: 84,743,459 probably null Het
Gtf2ird2 A G 5: 134,216,298 H466R probably damaging Het
Hdac5 T C 11: 102,202,193 S573G probably damaging Het
Iars2 A T 1: 185,289,357 M916K probably benign Het
Insr A T 8: 3,211,346 probably benign Het
Itgam T C 7: 128,101,537 V493A probably damaging Het
Ivl T A 3: 92,571,750 K336I probably damaging Het
Kcng2 A G 18: 80,322,852 I95T probably damaging Het
Lap3 A G 5: 45,511,138 R431G probably damaging Het
Lrrc66 T C 5: 73,629,662 H115R probably benign Het
Morc3 T C 16: 93,873,238 V767A probably benign Het
Mttp A G 3: 138,134,098 probably benign Het
Myo1c C T 11: 75,670,030 R770* probably null Het
Nat9 G A 11: 115,183,443 T133M probably damaging Het
Nectin4 T C 1: 171,385,146 I349T probably benign Het
Nlrp4a A G 7: 26,464,108 E900G probably benign Het
Nlrp9c A T 7: 26,384,840 M438K probably benign Het
Olfr1384 T A 11: 49,514,389 Y250* probably null Het
Olfr1444 A T 19: 12,861,897 I41F probably benign Het
Olfr551 A T 7: 102,587,836 D302E probably benign Het
Parp6 T C 9: 59,641,769 I507T probably damaging Het
Pde6c G A 19: 38,180,893 E804K possibly damaging Het
Plscr2 A G 9: 92,291,014 Y203C probably damaging Het
Ptprs A G 17: 56,428,067 W216R probably damaging Het
Rhof T A 5: 123,120,391 T126S probably benign Het
Riox2 A G 16: 59,475,682 I49V probably benign Het
Tmc6 A T 11: 117,768,948 C750S probably benign Het
Tmem231 C A 8: 111,933,786 probably benign Het
Tmem94 T A 11: 115,786,295 I131N possibly damaging Het
Tmx3 T C 18: 90,521,039 probably null Het
Tnfrsf21 C T 17: 43,038,232 T245I possibly damaging Het
Ttbk2 C A 2: 120,739,861 R1201S probably damaging Het
Vmn2r102 A T 17: 19,694,314 M714L probably benign Het
Vmn2r109 A G 17: 20,541,343 L584S probably damaging Het
Vmn2r53 T A 7: 12,601,202 H177L probably benign Het
Vnn1 T A 10: 23,897,352 D92E probably benign Het
Zan T C 5: 137,446,712 I1762V unknown Het
Zbtb20 G T 16: 43,610,676 A517S probably damaging Het
Zfhx4 A G 3: 5,245,503 probably null Het
Zfp560 T C 9: 20,351,918 E54G possibly damaging Het
Zfp719 C T 7: 43,590,232 H415Y probably damaging Het
Zmynd11 A C 13: 9,695,753 V188G probably damaging Het
Other mutations in Ccdc62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Ccdc62 APN 5 123954576 missense possibly damaging 0.83
IGL02491:Ccdc62 APN 5 123961315 missense probably damaging 1.00
IGL02634:Ccdc62 APN 5 123954257 missense probably benign 0.03
IGL02938:Ccdc62 APN 5 123934184 missense probably benign 0.30
IGL03274:Ccdc62 APN 5 123954680 missense probably benign 0.00
IGL03293:Ccdc62 APN 5 123951225 missense possibly damaging 0.95
Condensed UTSW 5 123934093 missense probably benign 0.00
R0356:Ccdc62 UTSW 5 123954748 missense probably benign 0.05
R3915:Ccdc62 UTSW 5 123954715 missense probably damaging 1.00
R5731:Ccdc62 UTSW 5 123951289 critical splice donor site probably null
R6354:Ccdc62 UTSW 5 123944204 missense probably damaging 0.96
R6681:Ccdc62 UTSW 5 123934093 missense probably benign 0.00
R7340:Ccdc62 UTSW 5 123951220 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACGTTCTTGATCCGCGAG -3'
(R):5'- TTCGAGACTGTCAATGGGAAG -3'

Sequencing Primer
(F):5'- ATCACTCCTGCGCAACGTC -3'
(R):5'- GGAAGAAGTCGGTCCACTC -3'
Posted On2016-08-16