Incidental Mutation 'RF054:Cep131'
ID 605212
Institutional Source Beutler Lab
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 # RF054 (G1)
Quality Score 214.458
Status Not validated
Chromosome 11
Chromosomal Location 119955256-119977653 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) CTGTTGTT to CTGTTGTTGTT at 119963794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106227] [ENSMUST00000106229] [ENSMUST00000180242]
AlphaFold Q62036
Predicted Effect probably benign
Transcript: ENSMUST00000106227
SMART Domains Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781

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 benign
Transcript: ENSMUST00000106229
SMART Domains Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781

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 probably benign
Transcript: ENSMUST00000180242
SMART Domains Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.6%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 CGGC CGGCGGAGGC 18: 36,693,982 (GRCm39) probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Chga AGC AGCTGC 12: 102,527,682 (GRCm39) probably benign Het
Dmkn GAAGTGGTGGAAGTGGTGG GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG 7: 30,466,613 (GRCm39) probably benign Het
Dnmt1 CCTCGTT CCTCGTTTTGGGGGCGGAGCACAGTTCCTAGCTCGTT 9: 20,821,435 (GRCm39) probably null Het
Epha8 CCTGGGC CC 4: 136,660,348 (GRCm39) probably benign Het
F830016B08Rik AAAAAA AAAAAAAAA 18: 60,433,010 (GRCm39) probably benign Het
Gabre TCAGGCTCAGGCT TCAGGCTCAGGCTCAGGCT X: 71,314,022 (GRCm39) probably benign Het
Gm8369 GTGT GTGTCTGT 19: 11,489,128 (GRCm39) probably null Het
Irag2 ATTG ATTGAGCACTTTG 6: 145,119,514 (GRCm39) probably benign Het
Lce1m CAC CACCGCTGCGGCGAC 3: 92,925,605 (GRCm39) probably benign Het
Lypd8 TC TCGCCTCTGTTACCCCACAAATCACCAACACCTCCCCC 11: 58,281,077 (GRCm39) probably benign Het
Nefh GGGACT GGGACTGGGCCTCACCTGCGGACT 11: 4,891,048 (GRCm39) probably benign Het
Prp2 CTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCT C 6: 132,577,484 (GRCm39) probably null Het
Rassf6 TCACTCATGGTCCTGTAGAGCAATGGGGATTC TCACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCCCACTCATGGTCCTGTAGAGCAATGGGGATTC 5: 90,756,770 (GRCm39) probably benign Het
Rassf6 CAATGGGGATTC CAATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGAAATGGGGATTC 5: 90,756,790 (GRCm39) probably benign Het
Rassf6 TGTAGAGCAATGGGGATTC TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC 5: 90,756,783 (GRCm39) probably benign Het
Sbp GATGCTGACAACAAA GATGCTGACAACAAATATGCTGACAACAAA 17: 24,164,345 (GRCm39) probably benign Het
Six3 GCG GCGCCG 17: 85,928,783 (GRCm39) probably benign Het
Tfeb CAG CAGTAG 17: 48,097,023 (GRCm39) probably null Het
Thbs1 TGACCTTAG TG 2: 117,953,346 (GRCm39) probably benign Het
Tob1 GCA GCACCA 11: 94,105,287 (GRCm39) probably benign Het
Ubqln3 AACAC A 7: 103,790,385 (GRCm39) probably null Het
Zfhx3 AACAGCAGC AACAGCAGCCACAGCAGC 8: 109,682,728 (GRCm39) probably benign 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
IGL01524:Cep131 APN 11 119,956,786 (GRCm39) missense probably damaging 1.00
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
Z1177:Cep131 UTSW 11 119,956,541 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTTCACCTCACTGTAGGCC -3'
(R):5'- AACCTTCTGGAACTGCACCG -3'

Sequencing Primer
(F):5'- TCACTGTAGGCCTCCCAG -3'
(R):5'- AAAAGGCTCGTCAGGCC -3'
Posted On 2019-12-04