Incidental Mutation 'IGL00978:Cep97'
ID 29201
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 # IGL00978
Quality Score
Status
Chromosome 16
Chromosomal Location 55720251-55755218 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 55745323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023270] [ENSMUST00000117468] [ENSMUST00000118500] [ENSMUST00000121129] [ENSMUST00000121703] [ENSMUST00000122280]
AlphaFold Q9CZ62
Predicted Effect probably benign
Transcript: ENSMUST00000023270
SMART Domains Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604

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 benign
Transcript: ENSMUST00000117468
SMART Domains Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604

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 benign
Transcript: ENSMUST00000118500
SMART Domains Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604

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 benign
Transcript: ENSMUST00000121129
SMART Domains Protein: ENSMUSP00000112502
Gene: ENSMUSG00000022604

DomainStartEndE-ValueType
Pfam:LRR_6 79 103 2.8e-2 PFAM
Pfam:LRR_4 80 122 4.4e-8 PFAM
Pfam:LRR_8 80 136 7.2e-10 PFAM
Pfam:LRR_8 102 152 8.5e-8 PFAM
Pfam:LRR_1 103 123 5.2e-2 PFAM
Pfam:LRR_6 123 153 5.6e-4 PFAM
Pfam:LRR_7 124 143 1.4e-1 PFAM
Pfam:LRR_1 125 148 1.2e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121703
SMART Domains Protein: ENSMUSP00000113470
Gene: ENSMUSG00000022604

DomainStartEndE-ValueType
Pfam:LRR_6 79 103 2.6e-2 PFAM
Pfam:LRR_4 80 122 4.1e-8 PFAM
Pfam:LRR_8 94 136 4.4e-8 PFAM
Pfam:LRR_1 103 123 4.9e-2 PFAM
Pfam:LRR_6 123 147 7e-4 PFAM
Pfam:LRR_7 124 143 1.3e-1 PFAM
Pfam:LRR_1 125 145 1.2e-3 PFAM
Predicted Effect silent
Transcript: ENSMUST00000122280
SMART Domains Protein: ENSMUSP00000113009
Gene: ENSMUSG00000022604

DomainStartEndE-ValueType
Pfam:LRR_6 79 103 2.7e-2 PFAM
Pfam:LRR_4 80 122 4.4e-8 PFAM
Pfam:LRR_8 94 136 4.5e-8 PFAM
Pfam:LRR_1 103 123 5.2e-2 PFAM
Pfam:LRR_6 123 147 8.1e-4 PFAM
Pfam:LRR_7 124 142 1.5e-1 PFAM
Pfam:LRR_1 125 152 1.1e-3 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,241,773 (GRCm39) probably benign Het
Alpk2 A T 18: 65,424,605 (GRCm39) probably benign Het
Angptl8 T C 9: 21,748,349 (GRCm39) probably benign Het
AU040320 T A 4: 126,722,632 (GRCm39) D383E probably benign Het
Clcn4 A T 7: 7,290,672 (GRCm39) L649H probably damaging Het
Col5a2 T C 1: 45,415,899 (GRCm39) N1416S probably benign Het
Erbb2 C T 11: 98,326,456 (GRCm39) P1027S probably damaging Het
Eya1 A G 1: 14,340,925 (GRCm39) probably benign Het
Gfm2 T C 13: 97,299,485 (GRCm39) I402T probably benign Het
Gmeb2 A T 2: 180,900,836 (GRCm39) V187E probably benign Het
Hectd1 T C 12: 51,838,173 (GRCm39) H662R possibly damaging Het
Ifne T C 4: 88,798,268 (GRCm39) Q50R probably benign Het
Kidins220 A G 12: 25,107,473 (GRCm39) D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 (GRCm39) D146V probably damaging Het
Krt36 T C 11: 99,993,774 (GRCm39) I355V probably damaging Het
Lrrcc1 T A 3: 14,601,188 (GRCm39) S73R possibly damaging Het
Ltbp3 A T 19: 5,804,047 (GRCm39) H853L probably benign Het
Map3k5 G A 10: 20,017,313 (GRCm39) R1369Q probably damaging Het
Mcm8 A G 2: 132,663,326 (GRCm39) N148S probably benign Het
Mylk3 A T 8: 86,082,155 (GRCm39) L211* probably null Het
Nras T C 3: 102,966,232 (GRCm39) probably benign Het
Or2n1c A T 17: 38,519,873 (GRCm39) I246F probably damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Os9 A T 10: 126,956,378 (GRCm39) Y66N probably damaging Het
Pitpnm1 A G 19: 4,151,228 (GRCm39) D15G possibly damaging Het
Reg3a A T 6: 78,359,284 (GRCm39) R95* probably null Het
Rnf17 C T 14: 56,749,728 (GRCm39) P1425S probably damaging Het
Smad2 T C 18: 76,432,846 (GRCm39) probably benign Het
Ttll5 C T 12: 85,980,256 (GRCm39) Q76* probably null Het
Uri1 A T 7: 37,696,156 (GRCm39) probably benign Het
Vmn2r102 G T 17: 19,899,185 (GRCm39) probably null Het
Vmn2r70 T G 7: 85,213,007 (GRCm39) M467L probably benign Het
Zfp318 T A 17: 46,724,652 (GRCm39) D2218E possibly damaging Het
Zfp692 T C 11: 58,204,855 (GRCm39) I405T possibly damaging Het
Zfp692 A G 11: 58,200,824 (GRCm39) H235R possibly damaging Het
Other mutations in Cep97
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17