Incidental Mutation 'R6179:Cep131'
ID 487946
Institutional Source Beutler Lab
Gene Symbol Cep131
Ensembl Gene ENSMUSG00000039781
Gene Name centrosomal protein 131
Synonyms Azi1, AZ1
MMRRC Submission 044321-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R6179 (G1)
Quality Score 224.009
Status Not validated
Chromosome 11
Chromosomal Location 119955256-119977653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119956837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 868 (I868V)
Ref Sequence ENSEMBL: ENSMUSP00000101834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106227] [ENSMUST00000106229] [ENSMUST00000180242]
AlphaFold Q62036
Predicted Effect probably benign
Transcript: ENSMUST00000106227
AA Change: I868V

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781
AA Change: I868V

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
AA Change: I869V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781
AA Change: I869V

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 noncoding transcript
Transcript: ENSMUST00000175334
Predicted Effect probably benign
Transcript: ENSMUST00000180242
AA Change: I869V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781
AA Change: I869V

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,653 (GRCm39) probably benign Het
4930590J08Rik T C 6: 91,919,311 (GRCm39) S657P probably damaging Het
Abca9 T C 11: 110,025,080 (GRCm39) I988V probably benign Het
Acte1 A G 7: 143,425,524 (GRCm39) T58A probably benign Het
Aox4 T A 1: 58,270,662 (GRCm39) D280E probably benign Het
Apob T A 12: 8,055,060 (GRCm39) L1353* probably null Het
Atp2b1 C T 10: 98,858,691 (GRCm39) R222C probably damaging Het
AW209491 T G 13: 14,811,668 (GRCm39) S174A possibly damaging Het
B930094E09Rik G C 18: 31,742,911 (GRCm39) probably benign Het
Cbln3 G T 14: 56,121,517 (GRCm39) P43Q possibly damaging Het
Ccdc181 A T 1: 164,107,487 (GRCm39) T57S probably benign Het
Ccr2 A C 9: 123,906,008 (GRCm39) N96T probably damaging Het
Chd2 A G 7: 73,094,071 (GRCm39) I1535T probably damaging Het
Chl1 A T 6: 103,660,204 (GRCm39) T377S probably benign Het
Cpeb3 A G 19: 37,065,853 (GRCm39) F439L probably damaging Het
Crb2 T C 2: 37,680,269 (GRCm39) V399A probably damaging Het
Cry2 C T 2: 92,244,187 (GRCm39) G329R probably damaging Het
Dock4 A G 12: 40,781,868 (GRCm39) E691G probably benign Het
Edil3 A T 13: 88,970,108 (GRCm39) H3L probably benign Het
Endod1 T C 9: 14,268,757 (GRCm39) I243V probably benign Het
Fpr3 G A 17: 18,190,919 (GRCm39) W63* probably null Het
Gtse1 T G 15: 85,753,158 (GRCm39) N424K possibly damaging Het
Kcnt1 G A 2: 25,783,192 (GRCm39) V252M probably damaging Het
Kifbp G A 10: 62,399,029 (GRCm39) Q130* probably null Het
Lmbrd2 T G 15: 9,149,262 (GRCm39) I48M probably damaging Het
Lrrc7 T G 3: 158,059,069 (GRCm39) I13L probably damaging Het
Mbd4 A G 6: 115,822,386 (GRCm39) S408P probably benign Het
Mphosph10 A G 7: 64,028,529 (GRCm39) V542A possibly damaging Het
Msto1 C A 3: 88,818,254 (GRCm39) R331L probably damaging Het
Myh10 G A 11: 68,692,979 (GRCm39) E1425K probably damaging Het
Nup43 T C 10: 7,554,437 (GRCm39) I340T probably benign Het
Or1j4 T C 2: 36,740,846 (GRCm39) S263P possibly damaging Het
Pcm1 T A 8: 41,736,669 (GRCm39) M884K probably damaging Het
Phf20 T A 2: 156,140,573 (GRCm39) L749H probably damaging Het
Pigp T C 16: 94,171,226 (GRCm39) R22G probably null Het
Polr2b T C 5: 77,468,824 (GRCm39) M200T probably damaging Het
Ppig T A 2: 69,580,471 (GRCm39) D668E unknown Het
Prss3 G A 6: 41,352,060 (GRCm39) R68C probably benign Het
Retreg3 G A 11: 100,994,721 (GRCm39) probably benign Het
Shank1 T C 7: 44,006,630 (GRCm39) F2116L possibly damaging Het
Spg21 T C 9: 65,376,090 (GRCm39) S33P possibly damaging Het
Spns3 A G 11: 72,390,349 (GRCm39) S432P probably damaging Het
Stra6 A G 9: 58,042,452 (GRCm39) E27G probably damaging Het
Tanc1 A G 2: 59,673,320 (GRCm39) Q1468R probably benign Het
Tbce T G 13: 14,194,362 (GRCm39) E99A probably benign Het
Tmem106b T C 6: 13,084,252 (GRCm39) V252A probably damaging Het
Trim10 A G 17: 37,187,923 (GRCm39) T380A probably damaging Het
Trim31 T A 17: 37,220,501 (GRCm39) D472E probably damaging Het
Vmn2r28 G A 7: 5,491,003 (GRCm39) Q415* probably null Het
Vwf G A 6: 125,626,252 (GRCm39) C7Y unknown Het
Yeats2 C T 16: 20,033,225 (GRCm39) P1088L probably benign Het
Zfp40 C A 17: 23,397,354 (GRCm39) V48L 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
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
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'- AACAAAACATGGTCCTCTTGGG -3'

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