Incidental Mutation 'R7056:Cep97'
ID 547949
Institutional Source Beutler Lab
Gene Symbol Cep97
Ensembl Gene ENSMUSG00000022604
Gene Name centrosomal protein 97
Synonyms Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik
MMRRC Submission 045153-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7056 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 55720251-55755218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55725935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 651 (S651P)
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: S723P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: S723P

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: S651P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: S651P

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: S651P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: S651P

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
Meta Mutation Damage Score 0.0821 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr T A 9: 95,744,916 (GRCm39) S78T probably damaging Het
B2m T C 2: 121,981,465 (GRCm39) L60P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cep350 A C 1: 155,724,373 (GRCm39) I3075S probably damaging Het
Chrna5 C T 9: 54,888,985 (GRCm39) probably benign Het
Cog5 T C 12: 31,715,468 (GRCm39) V80A possibly damaging Het
Col9a2 G A 4: 120,906,913 (GRCm39) probably null Het
Cop1 C T 1: 159,077,647 (GRCm39) L161F probably damaging Het
Cyp4f17 A T 17: 32,746,846 (GRCm39) M383L possibly damaging Het
Dennd4a A G 9: 64,814,205 (GRCm39) D1474G possibly damaging Het
Dgkb A C 12: 38,150,492 (GRCm39) S100R probably benign Het
Dnah17 A G 11: 118,016,212 (GRCm39) V309A probably benign Het
Dner C A 1: 84,558,457 (GRCm39) R169L possibly damaging Het
Dus1l T C 11: 120,682,120 (GRCm39) E362G probably benign Het
Eed A T 7: 89,619,564 (GRCm39) S168T possibly damaging Het
Eif3a T A 19: 60,751,500 (GRCm39) probably null Het
Fam234b A G 6: 135,205,450 (GRCm39) S472G probably benign Het
Fbn2 T A 18: 58,209,798 (GRCm39) T1028S probably benign Het
Fbxw16 A G 9: 109,265,352 (GRCm39) V393A possibly damaging Het
Fig4 A T 10: 41,096,928 (GRCm39) L838Q probably benign Het
Gm13941 T G 2: 110,927,147 (GRCm39) S137R unknown Het
Gm9938 T G 19: 23,701,981 (GRCm39) probably benign Het
Igsf10 T G 3: 59,238,501 (GRCm39) D560A probably damaging Het
Lrrk2 T A 15: 91,659,198 (GRCm39) L1870* probably null Het
Mep1b T A 18: 21,224,247 (GRCm39) Y347N probably damaging Het
Mepce T C 5: 137,780,968 (GRCm39) N613D probably damaging Het
Mgat3 T G 15: 80,096,097 (GRCm39) L308R probably damaging Het
Morc2a A G 11: 3,625,925 (GRCm39) Y175C probably damaging Het
Necab2 A G 8: 120,178,878 (GRCm39) N98S probably benign Het
Net1 T C 13: 3,934,845 (GRCm39) M394V probably benign Het
Nfat5 G A 8: 108,094,738 (GRCm39) G993D probably damaging Het
Obscn C A 11: 58,887,122 (GRCm39) probably benign Het
Olr1 T C 6: 129,465,904 (GRCm39) H34R probably damaging Het
Or2ab1 A G 11: 58,489,044 (GRCm39) Y274C probably damaging Het
Or4f60 T C 2: 111,902,662 (GRCm39) N89D probably benign Het
Pmm2 T A 16: 8,460,628 (GRCm39) F27L probably damaging Het
Ptpdc1 C A 13: 48,740,466 (GRCm39) V261F possibly damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Radil A T 5: 142,480,109 (GRCm39) C670* probably null Het
Rasgrf2 C T 13: 92,167,203 (GRCm39) S290N probably damaging Het
Rbm33 T C 5: 28,599,001 (GRCm39) probably benign Het
Rnf111 A T 9: 70,360,957 (GRCm39) S501R possibly damaging Het
Sel1l2 T A 2: 140,087,334 (GRCm39) I446F probably benign Het
Sh3pxd2b T C 11: 32,372,737 (GRCm39) S635P probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Smg1 T C 7: 117,745,623 (GRCm39) probably benign Het
Sorcs2 C A 5: 36,225,474 (GRCm39) D132Y probably damaging Het
Sox18 T C 2: 181,313,280 (GRCm39) D12G probably damaging Het
Srsf4 G T 4: 131,628,004 (GRCm39) probably benign Het
Susd4 C A 1: 182,660,721 (GRCm39) T81N probably benign Het
Tmem256 G T 11: 69,729,416 (GRCm39) probably benign Het
Tor4a T C 2: 25,084,853 (GRCm39) H350R probably benign Het
Ugt2a3 T A 5: 87,484,953 (GRCm39) S24C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r77 C T 7: 86,451,023 (GRCm39) T303I probably benign Het
Wdr70 T A 15: 7,913,877 (GRCm39) I591F possibly damaging Het
Wdr93 T C 7: 79,399,088 (GRCm39) I74T probably damaging Het
Zfp292 A T 4: 34,809,784 (GRCm39) C1087S probably damaging Het
Zfp592 T A 7: 80,673,067 (GRCm39) D10E probably damaging Het
Zfp69 A G 4: 120,788,295 (GRCm39) V340A probably benign Het
Zswim2 C T 2: 83,751,092 (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
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
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
Predicted Primers PCR Primer
(F):5'- TTTCCGGAGAACAAGCGAG -3'
(R):5'- CTCTTCGGATCAGAGTTCGGAC -3'

Sequencing Primer
(F):5'- TGCCACATCGTCAGAATCGG -3'
(R):5'- ATCAGAGTTCGGACTGGCTC -3'
Posted On 2019-05-13