Incidental Mutation 'PIT4480001:Cep41'
ID 554855
Institutional Source Beutler Lab
Gene Symbol Cep41
Ensembl Gene ENSMUSG00000029790
Gene Name centrosomal protein 41
Synonyms 2810431D15Rik, Cep41, Tsga14, 1700017E11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4480001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 30653456-30693748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30658412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 196 (P196S)
Ref Sequence ENSEMBL: ENSMUSP00000031810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031810] [ENSMUST00000115131] [ENSMUST00000140211] [ENSMUST00000140252]
AlphaFold Q99NF3
Predicted Effect probably damaging
Transcript: ENSMUST00000031810
AA Change: P196S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031810
Gene: ENSMUSG00000029790
AA Change: P196S

DomainStartEndE-ValueType
RHOD 151 263 9.88e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115131
AA Change: P196S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110784
Gene: ENSMUSG00000029790
AA Change: P196S

DomainStartEndE-ValueType
RHOD 151 263 1.62e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140211
Predicted Effect probably benign
Transcript: ENSMUST00000140252
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.7%
  • 10x: 83.8%
  • 20x: 69.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a centrosomal protein which may be required for tubulin glutamylation in cilia during ciliogenesis. Mutations in a similar gene in human have been associated with Joubert Syndrome 15, an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Homozygous disruption of this gene causes an abnormal gait, increased thermal nociceptive threshold, and alterations in fertility/fecundity and eye morphology. Some embryos homozygous for a gene trapped allele die at E10-E12 exhibiting turning failure, dilated pericardial sacs, and brain anomalies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 G A 19: 4,917,605 (GRCm39) Q413* probably null Het
Ahnak2 C T 12: 112,740,358 (GRCm39) S1238N possibly damaging Het
Arsk T C 13: 76,210,484 (GRCm39) E521G probably damaging Het
Baiap2 A G 11: 119,887,913 (GRCm39) T356A probably benign Het
Baz1b G A 5: 135,246,819 (GRCm39) R756H probably damaging Het
Celsr1 G A 15: 85,916,615 (GRCm39) P453S probably damaging Het
Cln5 T A 14: 103,309,214 (GRCm39) Y89* probably null Het
Cntnap3 A G 13: 64,905,024 (GRCm39) F919S probably damaging Het
Cntrl C T 2: 35,045,440 (GRCm39) H1383Y probably damaging Het
Cobl A G 11: 12,203,592 (GRCm39) S1037P probably benign Het
Col17a1 A T 19: 47,659,813 (GRCm39) S380T probably benign Het
Cyrib G A 15: 63,828,490 (GRCm39) T11I probably benign Het
Dagla A T 19: 10,238,022 (GRCm39) S323T probably benign Het
Dicer1 G T 12: 104,662,803 (GRCm39) Q1593K probably benign Het
Dnah6 T C 6: 73,078,863 (GRCm39) I2367V probably benign Het
Emc1 T C 4: 139,086,588 (GRCm39) S184P possibly damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Erbb4 A T 1: 68,114,702 (GRCm39) M914K probably damaging Het
Eva1a A G 6: 82,068,784 (GRCm39) E37G probably damaging Het
Fyco1 G T 9: 123,657,715 (GRCm39) Y820* probably null Het
Gipr T C 7: 18,896,859 (GRCm39) Y137C probably damaging Het
Gm5414 A G 15: 101,536,181 (GRCm39) V148A probably damaging Het
Gpn1 T C 5: 31,654,685 (GRCm39) V79A probably damaging Het
Grk2 G A 19: 4,337,437 (GRCm39) R617C possibly damaging Het
Inpp4b A C 8: 82,772,896 (GRCm39) E730A probably damaging Het
Inpp5f C T 7: 128,286,858 (GRCm39) T579I probably benign Het
Kif15 A T 9: 122,840,608 (GRCm39) M1201L probably benign Het
Ltbp3 A G 19: 5,801,254 (GRCm39) N631S possibly damaging Het
Mdh1 G A 11: 21,508,538 (GRCm39) S268L probably damaging Het
Mgat4e T A 1: 134,469,103 (GRCm39) T314S possibly damaging Het
Nsd1 A G 13: 55,361,731 (GRCm39) Q233R probably benign Het
Or11g1 T C 14: 50,651,372 (GRCm39) F124L probably benign Het
Or5w17 T C 2: 87,584,127 (GRCm39) D70G possibly damaging Het
Paqr5 T A 9: 61,863,438 (GRCm39) I295L probably benign Het
Peg10 C T 6: 4,756,560 (GRCm39) H379Y unknown Het
Phtf2 A T 5: 21,018,242 (GRCm39) I33N probably damaging Het
Plcb2 T C 2: 118,553,977 (GRCm39) M115V probably benign Het
Ppp2r3d A G 9: 101,003,576 (GRCm39) Y431H possibly damaging Het
Prph2 GT G 17: 47,222,039 (GRCm39) probably null Het
Psmd1 C T 1: 86,055,960 (GRCm39) P774L probably damaging Het
Ranbp17 A T 11: 33,247,340 (GRCm39) probably null Het
Rptn A G 3: 93,304,977 (GRCm39) D770G possibly damaging Het
Serac1 A G 17: 6,101,087 (GRCm39) L439P probably damaging Het
Slitrk6 TTTTAGTCTGTTCTACCAACACCTT TTT 14: 110,987,257 (GRCm39) probably null Het
Sox6 T C 7: 115,196,744 (GRCm39) I295M probably benign Het
Spata31h1 T C 10: 82,119,586 (GRCm39) M4475V probably benign Het
Sulf1 T A 1: 12,929,637 (GRCm39) D301E probably benign Het
Tas2r117 G A 6: 132,780,014 (GRCm39) V51I possibly damaging Het
Tbx2 C T 11: 85,725,561 (GRCm39) R171C probably damaging Het
Tgfbr1 A G 4: 47,402,955 (GRCm39) I320V probably benign Het
Tjp3 C A 10: 81,115,091 (GRCm39) G396W probably damaging Het
Tmprss2 T C 16: 97,400,460 (GRCm39) N4D possibly damaging Het
Tnfaip3 T C 10: 18,883,071 (GRCm39) N165D probably benign Het
Tnfrsf21 A T 17: 43,348,802 (GRCm39) Y138F probably benign Het
Utp4 T C 8: 107,632,817 (GRCm39) S267P probably benign Het
Wnk1 A T 6: 119,940,328 (GRCm39) L803* probably null Het
Zbbx T A 3: 75,043,794 (GRCm39) D35V probably damaging Het
Zscan12 T G 13: 21,552,744 (GRCm39) N189K possibly damaging Het
Other mutations in Cep41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Cep41 APN 6 30,660,966 (GRCm39) missense probably benign 0.29
IGL02640:Cep41 APN 6 30,658,867 (GRCm39) missense probably benign 0.00
R0627:Cep41 UTSW 6 30,656,630 (GRCm39) missense probably damaging 1.00
R1416:Cep41 UTSW 6 30,657,356 (GRCm39) missense probably damaging 0.97
R1856:Cep41 UTSW 6 30,661,005 (GRCm39) missense probably damaging 0.96
R2265:Cep41 UTSW 6 30,660,915 (GRCm39) missense possibly damaging 0.50
R3881:Cep41 UTSW 6 30,658,397 (GRCm39) missense probably damaging 1.00
R4488:Cep41 UTSW 6 30,655,688 (GRCm39) utr 3 prime probably benign
R4678:Cep41 UTSW 6 30,671,318 (GRCm39) splice site probably null
R4758:Cep41 UTSW 6 30,671,368 (GRCm39) splice site probably benign
R6491:Cep41 UTSW 6 30,656,483 (GRCm39) missense probably benign 0.10
R7344:Cep41 UTSW 6 30,693,655 (GRCm39) missense probably benign 0.00
R7973:Cep41 UTSW 6 30,680,130 (GRCm39) missense probably damaging 1.00
R8353:Cep41 UTSW 6 30,658,891 (GRCm39) missense probably benign 0.01
R8998:Cep41 UTSW 6 30,666,165 (GRCm39) missense probably benign 0.19
R8999:Cep41 UTSW 6 30,666,165 (GRCm39) missense probably benign 0.19
R9313:Cep41 UTSW 6 30,680,345 (GRCm39) missense probably null 0.00
R9407:Cep41 UTSW 6 30,655,841 (GRCm39) missense probably benign 0.08
R9744:Cep41 UTSW 6 30,656,603 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TAGTGCCAAAGGTCCCTTGC -3'
(R):5'- TAAGAGTAGCTGACTATGCCTCCC -3'

Sequencing Primer
(F):5'- GCAGTTTTCACACTAAGAACATGGC -3'
(R):5'- CACAGTGCAGTGAGCAA -3'
Posted On 2019-06-07