Incidental Mutation 'IGL01383:Cep97'
ID 78930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep97
Ensembl Gene ENSMUSG00000022604
Gene Name centrosomal protein 97
Synonyms Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01383
Quality Score
Status
Chromosome 16
Chromosomal Location 55720251-55755218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55731970 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CZ62
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 (GRCm38) probably null Het
Abca9 A C 11: 110,004,119 (GRCm39) probably benign Het
Aox1 T A 1: 58,333,464 (GRCm39) M227K probably benign Het
Asb5 T A 8: 55,003,544 (GRCm39) L22H probably damaging Het
Atrx T C X: 104,845,681 (GRCm39) D2309G probably damaging Het
Cand1 T A 10: 119,044,072 (GRCm39) T1074S probably damaging Het
Cftr C A 6: 18,226,040 (GRCm39) N329K probably benign Het
Clec7a T C 6: 129,449,603 (GRCm39) T16A probably damaging Het
Col1a1 G A 11: 94,836,351 (GRCm39) R674H probably damaging Het
Csf2rb2 T C 15: 78,181,243 (GRCm39) S50G possibly damaging Het
Eepd1 A G 9: 25,393,778 (GRCm39) D14G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Grin1 C A 2: 25,186,979 (GRCm39) R694L possibly damaging Het
Gtf3c1 A G 7: 125,298,672 (GRCm39) I151T probably damaging Het
Havcr2 T C 11: 46,360,375 (GRCm39) S152P probably damaging Het
Hvcn1 T C 5: 122,375,766 (GRCm39) V15A probably damaging Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Map3k10 C T 7: 27,357,424 (GRCm39) V785M probably benign Het
Mis18bp1 T C 12: 65,195,763 (GRCm39) N667S probably benign Het
Mup3 A C 4: 62,004,196 (GRCm39) Y106D probably damaging Het
Mypn G T 10: 62,971,576 (GRCm39) N821K probably damaging Het
Odad1 T C 7: 45,589,124 (GRCm39) S179P probably damaging Het
Or2y1c T A 11: 49,361,880 (GRCm39) W301R probably benign Het
Or52b4 A G 7: 102,184,140 (GRCm39) Y62C probably benign Het
Or5ac25 A T 16: 59,182,316 (GRCm39) N88K probably benign Het
Or5i1 A G 2: 87,613,217 (GRCm39) D111G possibly damaging Het
Pcdhb10 A T 18: 37,546,328 (GRCm39) H468L probably benign Het
Pramel27 T G 4: 143,573,102 (GRCm39) probably benign Het
Prp2 C A 6: 132,576,841 (GRCm39) P43T unknown Het
Psg26 A G 7: 18,214,179 (GRCm39) V161A possibly damaging Het
Rab17 T G 1: 90,887,815 (GRCm39) D115A probably damaging Het
Rrp1b T C 17: 32,277,552 (GRCm39) F611L probably damaging Het
Skor1 T A 9: 63,053,838 (GRCm39) T44S probably benign Het
Spaca5 T C X: 20,934,725 (GRCm39) probably benign Het
Tatdn3 G A 1: 190,787,578 (GRCm39) probably benign Het
Tbk1 T C 10: 121,412,184 (GRCm39) D118G probably damaging Het
Tnfsf13b T C 8: 10,081,528 (GRCm39) F230S probably damaging Het
Tnrc6c T C 11: 117,605,083 (GRCm39) S73P probably benign Het
Vmn2r109 A G 17: 20,761,383 (GRCm39) V658A possibly damaging Het
Vmn2r116 C T 17: 23,620,575 (GRCm39) L770F probably damaging Het
Wwp2 T A 8: 108,259,923 (GRCm39) probably null Het
Other mutations in Cep97
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Cep97 APN 16 55,745,323 (GRCm39) splice site probably benign
IGL01142:Cep97 APN 16 55,742,561 (GRCm39) missense probably damaging 1.00
IGL01529:Cep97 APN 16 55,750,981 (GRCm39) splice site probably benign
IGL01693:Cep97 APN 16 55,750,957 (GRCm39) missense probably damaging 1.00
IGL01759:Cep97 APN 16 55,750,936 (GRCm39) missense probably damaging 1.00
IGL02085:Cep97 APN 16 55,735,868 (GRCm39) missense probably damaging 1.00
IGL02135:Cep97 APN 16 55,743,330 (GRCm39) missense probably damaging 1.00
IGL02582:Cep97 APN 16 55,742,539 (GRCm39) missense probably damaging 1.00
IGL02631:Cep97 APN 16 55,742,541 (GRCm39) nonsense probably null
IGL02899:Cep97 APN 16 55,738,903 (GRCm39) missense probably damaging 0.98
IGL03086:Cep97 APN 16 55,735,659 (GRCm39) missense probably benign
R0067:Cep97 UTSW 16 55,735,924 (GRCm39) missense possibly damaging 0.96
R0067:Cep97 UTSW 16 55,735,924 (GRCm39) missense possibly damaging 0.96
R0309:Cep97 UTSW 16 55,745,421 (GRCm39) missense probably damaging 0.96
R0504:Cep97 UTSW 16 55,726,142 (GRCm39) missense probably benign 0.00
R0507:Cep97 UTSW 16 55,726,245 (GRCm39) splice site probably benign
R0508:Cep97 UTSW 16 55,750,969 (GRCm39) missense probably benign 0.02
R0658:Cep97 UTSW 16 55,735,265 (GRCm39) missense probably benign 0.09
R1588:Cep97 UTSW 16 55,748,184 (GRCm39) missense probably damaging 1.00
R1619:Cep97 UTSW 16 55,748,159 (GRCm39) missense probably damaging 1.00
R1710:Cep97 UTSW 16 55,735,385 (GRCm39) missense probably damaging 0.99
R1872:Cep97 UTSW 16 55,748,229 (GRCm39) missense probably damaging 1.00
R1878:Cep97 UTSW 16 55,725,589 (GRCm39) missense probably damaging 1.00
R1896:Cep97 UTSW 16 55,748,107 (GRCm39) missense probably damaging 1.00
R5401:Cep97 UTSW 16 55,745,315 (GRCm39) missense probably benign 0.03
R5520:Cep97 UTSW 16 55,735,659 (GRCm39) missense probably benign
R5627:Cep97 UTSW 16 55,745,330 (GRCm39) critical splice donor site probably null
R5632:Cep97 UTSW 16 55,735,946 (GRCm39) missense probably benign 0.02
R5903:Cep97 UTSW 16 55,739,889 (GRCm39) missense probably damaging 1.00
R5914:Cep97 UTSW 16 55,725,820 (GRCm39) missense probably benign 0.02
R6185:Cep97 UTSW 16 55,735,455 (GRCm39) missense probably benign
R6381:Cep97 UTSW 16 55,742,534 (GRCm39) missense probably damaging 1.00
R7041:Cep97 UTSW 16 55,726,117 (GRCm39) missense probably benign
R7056:Cep97 UTSW 16 55,725,935 (GRCm39) missense probably damaging 1.00
R7371:Cep97 UTSW 16 55,725,683 (GRCm39) missense probably benign 0.00
R7862:Cep97 UTSW 16 55,726,084 (GRCm39) missense probably benign 0.26
R7951:Cep97 UTSW 16 55,725,820 (GRCm39) missense probably benign 0.02
R8042:Cep97 UTSW 16 55,731,965 (GRCm39) missense probably benign
R8337:Cep97 UTSW 16 55,735,394 (GRCm39) nonsense probably null
R8782:Cep97 UTSW 16 55,726,084 (GRCm39) missense probably benign 0.26
R8876:Cep97 UTSW 16 55,742,467 (GRCm39) missense possibly damaging 0.55
R9028:Cep97 UTSW 16 55,739,915 (GRCm39) nonsense probably null
R9514:Cep97 UTSW 16 55,726,093 (GRCm39) missense probably benign 0.01
R9544:Cep97 UTSW 16 55,735,303 (GRCm39) missense possibly damaging 0.86
Z1176:Cep97 UTSW 16 55,748,098 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05