Incidental Mutation 'R6128:Cep131'
ID 487527
Institutional Source Beutler Lab
Gene Symbol Cep131
Ensembl Gene ENSMUSG00000039781
Gene Name centrosomal protein 131
Synonyms Azi1, AZ1
MMRRC Submission 044275-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R6128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 119955256-119977653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119956801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 880 (I880F)
Ref Sequence ENSEMBL: ENSMUSP00000101834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106227] [ENSMUST00000106229] [ENSMUST00000180242]
AlphaFold Q62036
Predicted Effect probably damaging
Transcript: ENSMUST00000106227
AA Change: I880F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781
AA Change: I880F

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: I881F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781
AA Change: I881F

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: I881F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781
AA Change: I881F

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
A430033K04Rik A G 5: 138,646,038 (GRCm39) H641R probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Asah1 C T 8: 41,807,092 (GRCm39) V111M probably damaging Het
Ascc3 T C 10: 50,526,734 (GRCm39) L611P probably damaging Het
Atl2 C A 17: 80,172,470 (GRCm39) probably null Het
Bhlhe22 A T 3: 18,109,987 (GRCm39) S346C probably damaging Het
Bicc1 T C 10: 70,776,313 (GRCm39) probably null Het
Bptf G T 11: 106,965,516 (GRCm39) A1163D possibly damaging Het
Bub1b T A 2: 118,448,293 (GRCm39) C382S probably benign Het
Carmil1 A T 13: 24,197,177 (GRCm39) Y158* probably null Het
Ccdc175 A T 12: 72,175,933 (GRCm39) I473K probably benign Het
Ccdc18 A G 5: 108,311,625 (GRCm39) I444V possibly damaging Het
Ces2e T A 8: 105,655,428 (GRCm39) I117N probably benign Het
Clk2 C T 3: 89,081,531 (GRCm39) T289M probably damaging Het
Crocc2 A T 1: 93,122,123 (GRCm39) D672V probably benign Het
Cul7 T A 17: 46,962,588 (GRCm39) I73N probably damaging Het
Cyp2d12 C A 15: 82,443,166 (GRCm39) D358E probably benign Het
Cyp7a1 A G 4: 6,272,788 (GRCm39) S142P possibly damaging Het
Daw1 T A 1: 83,183,647 (GRCm39) C232* probably null Het
Dhx9 T C 1: 153,353,835 (GRCm39) K195R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpp3 A G 19: 4,972,420 (GRCm39) V168A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ercc6l2 T C 13: 64,001,563 (GRCm39) V459A probably damaging Het
Erp44 A T 4: 48,243,493 (GRCm39) N38K probably damaging Het
Fam135a A G 1: 24,069,821 (GRCm39) probably null Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fdps T C 3: 89,006,740 (GRCm39) E117G possibly damaging Het
Gbp4 A C 5: 105,283,030 (GRCm39) V80G possibly damaging Het
Glt1d1 A T 5: 127,754,335 (GRCm39) D179V probably damaging Het
Gtf2a1l T A 17: 89,002,086 (GRCm39) V314E probably null Het
Gzmf G T 14: 56,443,443 (GRCm39) Y178* probably null Het
Hira C T 16: 18,751,727 (GRCm39) P509S probably benign Het
Ifi44 T C 3: 151,454,823 (GRCm39) N134S probably benign Het
Igfbp2 T A 1: 72,863,958 (GRCm39) C74S probably damaging Het
Il24 A G 1: 130,813,435 (GRCm39) L54P probably damaging Het
Ints10 T C 8: 69,274,904 (GRCm39) probably null Het
Ipo9 A G 1: 135,318,311 (GRCm39) C700R possibly damaging Het
Kalrn T A 16: 34,033,255 (GRCm39) Q469L probably damaging Het
Lrp1b T G 2: 40,750,667 (GRCm39) I2966L probably benign Het
Lta C A 17: 35,422,817 (GRCm39) V169L possibly damaging Het
Lyst T C 13: 13,933,964 (GRCm39) V3554A possibly damaging Het
Mobp A G 9: 119,997,392 (GRCm39) probably benign Het
Myorg T A 4: 41,498,445 (GRCm39) N395I probably damaging Het
Or10d1 C G 9: 39,484,549 (GRCm39) R2T probably benign Het
Or4b1d A T 2: 89,968,954 (GRCm39) C176* probably null Het
Or8c14-ps1 T C 9: 38,101,299 (GRCm39) S93P probably benign Het
Pacs1 A T 19: 5,202,400 (GRCm39) probably null Het
Phf21a G T 2: 92,181,953 (GRCm39) probably null Het
Pick1 T A 15: 79,123,896 (GRCm39) M89K probably damaging Het
Pik3cb T C 9: 98,946,152 (GRCm39) D558G possibly damaging Het
Pnma8a A G 7: 16,694,661 (GRCm39) D172G probably benign Het
Polr2a A C 11: 69,627,803 (GRCm39) V1368G probably damaging Het
Pomt2 A G 12: 87,158,109 (GRCm39) probably null Het
Pou2f1 T C 1: 165,703,056 (GRCm39) probably benign Het
Rnf145 T C 11: 44,446,018 (GRCm39) V284A probably damaging Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr3 C T 2: 112,784,639 (GRCm39) probably null Het
Scamp1 A C 13: 94,344,735 (GRCm39) L202R possibly damaging Het
Snx25 C T 8: 46,558,240 (GRCm39) V110I probably benign Het
Spata31e2 G A 1: 26,724,506 (GRCm39) P225S probably benign Het
Susd6 T A 12: 80,915,388 (GRCm39) H124Q possibly damaging Het
Tarm1 T C 7: 3,537,720 (GRCm39) T248A probably benign Het
Tc2n A G 12: 101,675,748 (GRCm39) M1T probably null Het
Tcerg1 C A 18: 42,644,563 (GRCm39) probably null Het
Ticrr C A 7: 79,343,716 (GRCm39) P1194T probably damaging Het
Trim31 T G 17: 37,220,491 (GRCm39) V469G probably benign Het
Vcp T C 4: 42,980,941 (GRCm39) E723G probably benign Het
Vmn1r177 C A 7: 23,565,267 (GRCm39) S203I probably damaging Het
Vmn1r177 T A 7: 23,565,268 (GRCm39) S203C probably damaging Het
Vmn1r210 A T 13: 23,012,277 (GRCm39) L3* probably null Het
Wdr27 T A 17: 15,152,796 (GRCm39) R104* probably null Het
Wnk1 A C 6: 119,940,747 (GRCm39) probably null Het
Zfp157 A G 5: 138,453,281 (GRCm39) E88G possibly damaging Het
Zfp708 A T 13: 67,222,965 (GRCm39) L22Q probably damaging Het
Zfp788 T C 7: 41,299,785 (GRCm39) F787S probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TTATCACGCACACGCTTCAC -3'
(R):5'- GAAAACAAAACATGGTCCTCTTGGG -3'

Sequencing Primer
(F):5'- TTCACACTGGCAGGCAGAG -3'
(R):5'- CCCTGTGTTCTGTGGCTCTAAG -3'
Posted On 2017-10-10