Incidental Mutation 'IGL01751:Ccdc7b'
ID153144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc7b
Ensembl Gene ENSMUSG00000056018
Gene Namecoiled-coil domain containing 7B
Synonyms1700008F21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.027) question?
Stock #IGL01751
Quality Score
Status
Chromosome8
Chromosomal Location129067134-129183732 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 129136568 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026912] [ENSMUST00000108743] [ENSMUST00000108745] [ENSMUST00000140887] [ENSMUST00000148234]
Predicted Effect probably benign
Transcript: ENSMUST00000026912
SMART Domains Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
Pfam:BioT2 1 93 1.7e-36 PFAM
coiled coil region 225 262 N/A INTRINSIC
low complexity region 276 287 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108744
SMART Domains Protein: ENSMUSP00000104377
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
coiled coil region 22 59 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108745
SMART Domains Protein: ENSMUSP00000104378
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
coiled coil region 22 59 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140887
SMART Domains Protein: ENSMUSP00000119034
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
Pfam:BioT2 1 153 1.3e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148234
SMART Domains Protein: ENSMUSP00000118197
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
Pfam:BioT2 1 153 1.3e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148621
SMART Domains Protein: ENSMUSP00000117707
Gene: ENSMUSG00000056018

DomainStartEndE-ValueType
coiled coil region 43 80 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,930,588 H174L possibly damaging Het
1700018F24Rik A G 5: 145,043,171 probably null Het
Auts2 G T 5: 131,472,360 Q72K probably damaging Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Frem3 A G 8: 80,615,743 E1555G probably benign Het
Gm1966 T A 7: 106,602,309 N576I possibly damaging Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Gm5828 A G 1: 16,769,984 noncoding transcript Het
Gm6605 T C 7: 38,448,206 noncoding transcript Het
Hps3 T C 3: 20,010,966 D638G probably damaging Het
Igdcc4 A T 9: 65,131,732 N887I probably damaging Het
Itpkc G A 7: 27,213,066 probably benign Het
Mfge8 A G 7: 79,136,655 probably null Het
Mrc2 G T 11: 105,325,734 L116F probably benign Het
Necab1 T C 4: 14,978,171 D226G probably damaging Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Obp2b G T 2: 25,737,748 V59L possibly damaging Het
Olfr1173 A T 2: 88,274,633 C139S possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr292 A T 7: 86,694,789 Q111L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olr1 T C 6: 129,488,848 N65S possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Scn3a T A 2: 65,461,252 M1717L possibly damaging Het
Smg7 T C 1: 152,844,061 D903G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttll9 A T 2: 152,983,105 N68I probably damaging Het
Ttn A G 2: 76,737,599 V25904A possibly damaging Het
Uaca G A 9: 60,869,857 V507M probably damaging Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Other mutations in Ccdc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Ccdc7b APN 8 129178357 missense possibly damaging 0.66
IGL02529:Ccdc7b APN 8 129178225 missense possibly damaging 0.92
IGL02596:Ccdc7b APN 8 129072478 missense probably benign 0.00
R0107:Ccdc7b UTSW 8 129178197 splice site probably benign
R0628:Ccdc7b UTSW 8 129111017 intron probably benign
R0709:Ccdc7b UTSW 8 129136646 missense probably benign 0.00
R1317:Ccdc7b UTSW 8 129136646 missense probably benign 0.00
R1594:Ccdc7b UTSW 8 129178357 missense possibly damaging 0.66
R2290:Ccdc7b UTSW 8 129131106 splice site probably benign
R4112:Ccdc7b UTSW 8 129085227 start gained probably benign
R4585:Ccdc7b UTSW 8 129110920 missense probably benign 0.06
R4586:Ccdc7b UTSW 8 129110920 missense probably benign 0.06
R4747:Ccdc7b UTSW 8 129178235 missense probably benign
R4978:Ccdc7b UTSW 8 129110207 critical splice donor site probably null
R4988:Ccdc7b UTSW 8 129145532 missense possibly damaging 0.53
R5470:Ccdc7b UTSW 8 129072600 missense possibly damaging 0.95
R5732:Ccdc7b UTSW 8 129072714 missense possibly damaging 0.71
R6593:Ccdc7b UTSW 8 129178219 missense probably benign 0.00
R6599:Ccdc7b UTSW 8 129166981 missense probably benign
R6690:Ccdc7b UTSW 8 129178219 missense probably benign 0.00
R6881:Ccdc7b UTSW 8 129072547 missense probably damaging 1.00
Posted On2014-02-04