Incidental Mutation 'IGL02899:Cep97'
ID 363526
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 # IGL02899
Quality Score
Status
Chromosome 16
Chromosomal Location 55720251-55755218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 55738903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 267 (S267I)
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: S339I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: S339I

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: S267I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: S267I

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: S267I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: S267I

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,710,971 (GRCm39) probably benign Het
Btbd7 A G 12: 102,803,921 (GRCm39) L373P probably damaging Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc186 A T 19: 56,781,920 (GRCm39) I753N probably benign Het
Ccser2 G A 14: 36,662,716 (GRCm39) T156I probably benign Het
Celsr1 A G 15: 85,915,927 (GRCm39) M682T probably damaging Het
Dhx35 A G 2: 158,643,370 (GRCm39) Y39C probably damaging Het
Dscam A T 16: 96,510,447 (GRCm39) D937E probably damaging Het
Elmod2 A G 8: 84,043,562 (GRCm39) Y202H probably damaging Het
Fyco1 T C 9: 123,659,396 (GRCm39) N260S possibly damaging Het
Gm5591 A G 7: 38,218,842 (GRCm39) L677P probably damaging Het
Gmppa A G 1: 75,418,474 (GRCm39) probably null Het
Hltf C T 3: 20,153,981 (GRCm39) T639I probably damaging Het
Inhca C A 9: 103,154,773 (GRCm39) V173L probably damaging Het
Kpnb1 T C 11: 97,066,612 (GRCm39) Y321C probably damaging Het
Lgr4 G A 2: 109,748,598 (GRCm39) G45R probably damaging Het
Ltn1 T C 16: 87,179,547 (GRCm39) D1538G probably benign Het
Maf1 T A 15: 76,237,220 (GRCm39) probably benign Het
Morn5 T C 2: 35,945,049 (GRCm39) F91S probably damaging Het
Ncan C T 8: 70,567,698 (GRCm39) R138H possibly damaging Het
Or10ak7 A T 4: 118,791,859 (GRCm39) M62K probably damaging Het
Or5ac21 G T 16: 59,123,649 (GRCm39) L44F probably damaging Het
Parg T C 14: 31,960,531 (GRCm39) L82S probably damaging Het
Ppp2r2b A T 18: 42,778,874 (GRCm39) H417Q probably damaging Het
Rb1cc1 T C 1: 6,334,807 (GRCm39) L98P probably damaging Het
Ryr1 C A 7: 28,748,220 (GRCm39) V3752L possibly damaging Het
Slc25a12 A G 2: 71,109,979 (GRCm39) L489P probably damaging Het
Slc38a8 C T 8: 120,212,282 (GRCm39) V354M probably benign Het
Slf2 A G 19: 44,930,459 (GRCm39) E512G probably benign Het
Tarbp1 A G 8: 127,180,583 (GRCm39) M597T probably damaging Het
Tgfb3 G A 12: 86,116,550 (GRCm39) R163C probably damaging Het
Tmco5b A G 2: 113,127,265 (GRCm39) M279V probably benign Het
Ttll9 G A 2: 152,844,871 (GRCm39) G413D probably damaging Het
Tut1 A G 19: 8,939,751 (GRCm39) D245G probably damaging Het
Usf3 T A 16: 44,041,589 (GRCm39) V2023E probably damaging Het
Vps33a C T 5: 123,669,239 (GRCm39) G554D probably damaging Het
Zfp27 C A 7: 29,595,680 (GRCm39) R95M possibly damaging 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
IGL01383:Cep97 APN 16 55,731,970 (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
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 2015-12-18