Incidental Mutation 'IGL01383:Cep97'
ID78930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep97
Ensembl Gene ENSMUSG00000022604
Gene Namecentrosomal protein 97
Synonyms4932439K18Rik, E130116N02Rik, Lrriq2, 2810403B08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01383
Quality Score
Status
Chromosome16
Chromosomal Location55899888-55934855 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55911607 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 534 (E534G)
Ref Sequence ENSEMBL: ENSMUSP00000112663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023270] [ENSMUST00000117468] [ENSMUST00000118500]
Predicted Effect probably damaging
Transcript: ENSMUST00000023270
AA Change: E606G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: E606G

DomainStartEndE-ValueType
Pfam:LRR_9 98 259 1.8e-12 PFAM
IQ 549 571 2e-1 SMART
coiled coil region 576 609 N/A INTRINSIC
low complexity region 661 673 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
low complexity region 775 789 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117468
AA Change: E534G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: E534G

DomainStartEndE-ValueType
Pfam:LRR_9 7 187 4.1e-12 PFAM
Pfam:LRR_8 30 86 1e-7 PFAM
Pfam:LRR_4 52 94 3.6e-8 PFAM
Pfam:LRR_1 53 73 1.3e-2 PFAM
IQ 477 499 2e-1 SMART
coiled coil region 504 537 N/A INTRINSIC
low complexity region 589 601 N/A INTRINSIC
low complexity region 643 656 N/A INTRINSIC
low complexity region 703 717 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118500
AA Change: E534G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: E534G

DomainStartEndE-ValueType
Pfam:LRR_9 7 187 4.1e-12 PFAM
Pfam:LRR_8 30 86 1e-7 PFAM
Pfam:LRR_4 52 94 3.6e-8 PFAM
Pfam:LRR_1 53 73 1.3e-2 PFAM
IQ 477 499 2e-1 SMART
coiled coil region 504 537 N/A INTRINSIC
low complexity region 589 601 N/A INTRINSIC
low complexity region 643 656 N/A INTRINSIC
low complexity region 703 717 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik C A 14: 5,051,570 probably null Het
4931409K22Rik A T 5: 24,548,294 N453K probably benign Het
Abca9 A C 11: 110,113,293 probably benign Het
Aox2 T A 1: 58,294,305 M227K probably benign Het
Asb5 T A 8: 54,550,509 L22H probably damaging Het
Atrx T C X: 105,802,075 D2309G probably damaging Het
Cand1 T A 10: 119,208,167 T1074S probably damaging Het
Ccdc114 T C 7: 45,939,700 S179P probably damaging Het
Cftr C A 6: 18,226,041 N329K probably benign Het
Clec7a T C 6: 129,472,640 T16A probably damaging Het
Col1a1 G A 11: 94,945,525 R674H probably damaging Het
Csf2rb2 T C 15: 78,297,043 S50G possibly damaging Het
Eepd1 A G 9: 25,482,482 D14G probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm13103 T G 4: 143,846,532 probably benign Het
Grin1 C A 2: 25,296,967 R694L possibly damaging Het
Gtf3c1 A G 7: 125,699,500 I151T probably damaging Het
Havcr2 T C 11: 46,469,548 S152P probably damaging Het
Hvcn1 T C 5: 122,237,703 V15A probably damaging Het
Map3k10 C T 7: 27,657,999 V785M probably benign Het
Mis18bp1 T C 12: 65,148,989 N667S probably benign Het
Mup3 A C 4: 62,085,959 Y106D probably damaging Het
Mypn G T 10: 63,135,797 N821K probably damaging Het
Olfr1386 T A 11: 49,471,053 W301R probably benign Het
Olfr152 A G 2: 87,782,873 D111G possibly damaging Het
Olfr209 A T 16: 59,361,953 N88K probably benign Het
Olfr547 A G 7: 102,534,933 Y62C probably benign Het
Pcdhb10 A T 18: 37,413,275 H468L probably benign Het
Prp2 C A 6: 132,599,878 P43T unknown Het
Psg26 A G 7: 18,480,254 V161A possibly damaging Het
Rab17 T G 1: 90,960,093 D115A probably damaging Het
Rrp1b T C 17: 32,058,578 F611L probably damaging Het
Skor1 T A 9: 63,146,556 T44S probably benign Het
Spaca5 T C X: 21,068,486 probably benign Het
Tatdn3 G A 1: 191,055,381 probably benign Het
Tbk1 T C 10: 121,576,279 D118G probably damaging Het
Tnfsf13b T C 8: 10,031,528 F230S probably damaging Het
Tnrc6c T C 11: 117,714,257 S73P probably benign Het
Vmn2r109 A G 17: 20,541,121 V658A possibly damaging Het
Vmn2r116 C T 17: 23,401,601 L770F probably damaging Het
Wwp2 T A 8: 107,533,291 probably null Het
Other mutations in Cep97
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Cep97 APN 16 55924960 splice site probably benign
IGL01142:Cep97 APN 16 55922198 missense probably damaging 1.00
IGL01529:Cep97 APN 16 55930618 splice site probably benign
IGL01693:Cep97 APN 16 55930594 missense probably damaging 1.00
IGL01759:Cep97 APN 16 55930573 missense probably damaging 1.00
IGL02085:Cep97 APN 16 55915505 missense probably damaging 1.00
IGL02135:Cep97 APN 16 55922967 missense probably damaging 1.00
IGL02582:Cep97 APN 16 55922176 missense probably damaging 1.00
IGL02631:Cep97 APN 16 55922178 nonsense probably null
IGL02899:Cep97 APN 16 55918540 missense probably damaging 0.98
IGL03086:Cep97 APN 16 55915296 missense probably benign
R0067:Cep97 UTSW 16 55915561 missense possibly damaging 0.96
R0067:Cep97 UTSW 16 55915561 missense possibly damaging 0.96
R0309:Cep97 UTSW 16 55925058 missense probably damaging 0.96
R0504:Cep97 UTSW 16 55905779 missense probably benign 0.00
R0507:Cep97 UTSW 16 55905882 splice site probably benign
R0508:Cep97 UTSW 16 55930606 missense probably benign 0.02
R0658:Cep97 UTSW 16 55914902 missense probably benign 0.09
R1588:Cep97 UTSW 16 55927821 missense probably damaging 1.00
R1619:Cep97 UTSW 16 55927796 missense probably damaging 1.00
R1710:Cep97 UTSW 16 55915022 missense probably damaging 0.99
R1872:Cep97 UTSW 16 55927866 missense probably damaging 1.00
R1878:Cep97 UTSW 16 55905226 missense probably damaging 1.00
R1896:Cep97 UTSW 16 55927744 missense probably damaging 1.00
R5401:Cep97 UTSW 16 55924952 missense probably benign 0.03
R5520:Cep97 UTSW 16 55915296 missense probably benign
R5627:Cep97 UTSW 16 55924967 critical splice donor site probably null
R5632:Cep97 UTSW 16 55915583 missense probably benign 0.02
R5903:Cep97 UTSW 16 55919526 missense probably damaging 1.00
R5914:Cep97 UTSW 16 55905457 missense probably benign 0.02
R6185:Cep97 UTSW 16 55915092 missense probably benign
R6381:Cep97 UTSW 16 55922171 missense probably damaging 1.00
R7041:Cep97 UTSW 16 55905754 missense probably benign
R7056:Cep97 UTSW 16 55905572 missense probably damaging 1.00
R7371:Cep97 UTSW 16 55905320 missense probably benign 0.00
R7862:Cep97 UTSW 16 55905721 missense probably benign 0.26
R7945:Cep97 UTSW 16 55905721 missense probably benign 0.26
R8042:Cep97 UTSW 16 55911602 missense probably benign
Z1176:Cep97 UTSW 16 55927735 missense probably damaging 1.00
Posted On2013-11-05