Incidental Mutation 'IGL01524:Cep131'
ID 89497
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep131
Ensembl Gene ENSMUSG00000039781
Gene Name centrosomal protein 131
Synonyms Azi1, AZ1
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # IGL01524
Quality Score
Status
Chromosome 11
Chromosomal Location 119955256-119977653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119956786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 886 (A886T)
Ref Sequence ENSEMBL: ENSMUSP00000136392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106227] [ENSMUST00000106229] [ENSMUST00000180242]
AlphaFold Q62036
Predicted Effect probably damaging
Transcript: ENSMUST00000106227
AA Change: A885T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781
AA Change: A885T

DomainStartEndE-ValueType
low complexity region 113 124 N/A INTRINSIC
low complexity region 238 257 N/A INTRINSIC
IQ 261 283 7.58e-2 SMART
coiled coil region 306 344 N/A INTRINSIC
low complexity region 395 409 N/A INTRINSIC
low complexity region 440 459 N/A INTRINSIC
low complexity region 561 576 N/A INTRINSIC
SCOP:d1jila_ 672 756 2e-3 SMART
low complexity region 785 803 N/A INTRINSIC
low complexity region 813 826 N/A INTRINSIC
coiled coil region 874 1053 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106229
AA Change: A886T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781
AA Change: A886T

DomainStartEndE-ValueType
low complexity region 113 124 N/A INTRINSIC
low complexity region 238 257 N/A INTRINSIC
IQ 261 283 7.58e-2 SMART
coiled coil region 306 342 N/A INTRINSIC
low complexity region 396 410 N/A INTRINSIC
low complexity region 441 460 N/A INTRINSIC
low complexity region 562 577 N/A INTRINSIC
SCOP:d1jila_ 673 757 2e-3 SMART
low complexity region 786 804 N/A INTRINSIC
low complexity region 814 827 N/A INTRINSIC
coiled coil region 875 1054 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156075
Predicted Effect probably damaging
Transcript: ENSMUST00000180242
AA Change: A886T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781
AA Change: A886T

DomainStartEndE-ValueType
low complexity region 113 124 N/A INTRINSIC
low complexity region 238 257 N/A INTRINSIC
IQ 261 283 7.58e-2 SMART
coiled coil region 306 345 N/A INTRINSIC
low complexity region 396 410 N/A INTRINSIC
low complexity region 441 460 N/A INTRINSIC
low complexity region 562 577 N/A INTRINSIC
SCOP:d1jila_ 673 757 2e-3 SMART
low complexity region 786 804 N/A INTRINSIC
low complexity region 814 827 N/A INTRINSIC
coiled coil region 875 1054 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175334
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoding this gene is a centriolar satellite protein that localizes around the basal body via transport along microtubules. Knockdown in mouse fibroblasts results in a reduction in ciliogenesis. Null mutant mice display no discernible ciliary phenotypes and embryonic patterning and adult homeostasis are largely unaffected. Male mice are infertile, however, due to defects in microtubule trafficking in the sperm manchette and flagella. In addition, the protein binds to a complex of proteins associated with Bardet-Biedl syndrome called the BBSome, and depletion of this protein results in an accumulation of the BBSome in cilia. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit partial preweaning lethality with no apparent defects in cilia formation or function. However, homozygotes display complete male infertility associated with spermiogenesis arrest, severe flagellar defects, and teratozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,969,106 (GRCm39) D117V probably damaging Het
Abca14 T C 7: 119,852,644 (GRCm39) Y870H possibly damaging Het
Ankrd36 T C 11: 5,585,092 (GRCm39) I301T probably benign Het
Atp10b T A 11: 43,150,672 (GRCm39) S1457T probably benign Het
Bltp1 A G 3: 36,996,531 (GRCm39) D1081G possibly damaging Het
Ccdc175 G A 12: 72,177,916 (GRCm39) probably benign Het
Ccdc93 A G 1: 121,389,628 (GRCm39) K224E probably benign Het
Clip1 A C 5: 123,717,442 (GRCm39) H1282Q probably damaging Het
Ctcfl T G 2: 172,959,177 (GRCm39) D183A probably benign Het
Cyp17a1 C T 19: 46,659,495 (GRCm39) V112I probably benign Het
Fhod3 T C 18: 25,263,659 (GRCm39) I1521T probably damaging Het
Gipc2 A G 3: 151,843,214 (GRCm39) I141T probably damaging Het
Glo1 T C 17: 30,815,393 (GRCm39) R141G possibly damaging Het
Ipmk C A 10: 71,208,631 (GRCm39) A140E probably damaging Het
Kynu A G 2: 43,561,394 (GRCm39) D310G possibly damaging Het
Myo1f T A 17: 33,798,857 (GRCm39) I174N probably damaging Het
Nat10 T A 2: 103,588,102 (GRCm39) N8Y probably damaging Het
Nhlrc2 A G 19: 56,564,587 (GRCm39) I304V probably benign Het
Pdk4 T C 6: 5,491,979 (GRCm39) H31R probably damaging Het
Sema6d T C 2: 124,505,995 (GRCm39) V644A possibly damaging Het
Slc30a4 T A 2: 122,544,308 (GRCm39) K11N possibly damaging Het
Slc6a3 T C 13: 73,686,668 (GRCm39) S12P probably benign Het
Spats2 C T 15: 99,110,127 (GRCm39) A508V probably benign Het
Tinag A G 9: 76,952,820 (GRCm39) Y55H probably damaging Het
Topbp1 T C 9: 103,188,844 (GRCm39) I172T possibly damaging Het
Trim17 A G 11: 58,861,423 (GRCm39) T279A probably damaging Het
Vmn1r216 C A 13: 23,283,519 (GRCm39) N67K probably benign Het
Washc4 T C 10: 83,411,996 (GRCm39) L709P probably benign Het
Xdh T C 17: 74,230,132 (GRCm39) probably null Het
Zfhx4 C T 3: 5,309,036 (GRCm39) P754L probably damaging Het
Zfp267 T C 3: 36,218,729 (GRCm39) Y251H possibly damaging Het
Zfp623 C A 15: 75,819,528 (GRCm39) S161R probably benign Het
Zmat3 G A 3: 32,395,827 (GRCm39) R227C possibly damaging Het
Other mutations in Cep131
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Cep131 APN 11 119,967,835 (GRCm39) missense possibly damaging 0.55
IGL01522:Cep131 APN 11 119,957,989 (GRCm39) missense probably benign 0.09
IGL02477:Cep131 APN 11 119,961,406 (GRCm39) missense probably damaging 1.00
R0565:Cep131 UTSW 11 119,964,588 (GRCm39) missense probably damaging 0.97
R1731:Cep131 UTSW 11 119,967,742 (GRCm39) splice site probably null
R1739:Cep131 UTSW 11 119,974,732 (GRCm39) missense probably benign 0.01
R1797:Cep131 UTSW 11 119,964,562 (GRCm39) splice site probably null
R2444:Cep131 UTSW 11 119,961,321 (GRCm39) missense probably damaging 1.00
R2899:Cep131 UTSW 11 119,962,854 (GRCm39) missense probably benign 0.01
R3854:Cep131 UTSW 11 119,958,011 (GRCm39) nonsense probably null
R3856:Cep131 UTSW 11 119,958,011 (GRCm39) nonsense probably null
R4446:Cep131 UTSW 11 119,955,645 (GRCm39) missense probably damaging 1.00
R4624:Cep131 UTSW 11 119,961,658 (GRCm39) missense probably damaging 1.00
R4838:Cep131 UTSW 11 119,966,982 (GRCm39) missense probably damaging 1.00
R4892:Cep131 UTSW 11 119,958,883 (GRCm39) missense probably damaging 0.99
R5170:Cep131 UTSW 11 119,961,435 (GRCm39) missense probably damaging 0.99
R6128:Cep131 UTSW 11 119,956,801 (GRCm39) missense probably damaging 1.00
R6179:Cep131 UTSW 11 119,956,837 (GRCm39) missense probably benign 0.13
R6362:Cep131 UTSW 11 119,955,516 (GRCm39) missense probably damaging 0.99
R6630:Cep131 UTSW 11 119,964,641 (GRCm39) missense probably damaging 1.00
R6786:Cep131 UTSW 11 119,956,218 (GRCm39) missense probably damaging 1.00
R6846:Cep131 UTSW 11 119,956,517 (GRCm39) missense probably damaging 1.00
R6847:Cep131 UTSW 11 119,956,517 (GRCm39) missense probably damaging 1.00
R7210:Cep131 UTSW 11 119,955,615 (GRCm39) missense probably damaging 0.96
R7569:Cep131 UTSW 11 119,957,539 (GRCm39) missense probably damaging 1.00
R8380:Cep131 UTSW 11 119,967,854 (GRCm39) missense probably damaging 1.00
R8794:Cep131 UTSW 11 119,972,074 (GRCm39) missense probably benign 0.01
R9520:Cep131 UTSW 11 119,968,157 (GRCm39) missense probably benign 0.09
RF015:Cep131 UTSW 11 119,963,794 (GRCm39) critical splice acceptor site probably benign
RF054:Cep131 UTSW 11 119,963,794 (GRCm39) critical splice acceptor site probably benign
Z1177:Cep131 UTSW 11 119,956,541 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03