Incidental Mutation 'IGL00953:Cep41'
ID27669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep41
Ensembl Gene ENSMUSG00000029790
Gene Namecentrosomal protein 41
SynonymsTsga14, 2810431D15Rik, 1700017E11Rik, Cep41
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00953
Quality Score
Status
Chromosome6
Chromosomal Location30653457-30693749 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30660967 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 109 (T109A)
Ref Sequence ENSEMBL: ENSMUSP00000110784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031810] [ENSMUST00000115131] [ENSMUST00000140211] [ENSMUST00000140252]
Predicted Effect probably benign
Transcript: ENSMUST00000031810
AA Change: T109A

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031810
Gene: ENSMUSG00000029790
AA Change: T109A

DomainStartEndE-ValueType
RHOD 151 263 9.88e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115131
AA Change: T109A

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110784
Gene: ENSMUSG00000029790
AA Change: T109A

DomainStartEndE-ValueType
RHOD 151 263 1.62e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132763
Predicted Effect probably benign
Transcript: ENSMUST00000140211
Predicted Effect probably benign
Transcript: ENSMUST00000140252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153107
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,011,221 E726G probably benign Het
Cdyl2 T A 8: 116,595,189 probably benign Het
Clca3b C T 3: 144,847,211 W84* probably null Het
Cyp27b1 A G 10: 127,049,682 D130G probably benign Het
Cyp2f2 T C 7: 27,129,817 V249A possibly damaging Het
Cyth3 G A 5: 143,707,165 probably null Het
Dnah8 G T 17: 30,706,457 E1289* probably null Het
Fam171a1 A T 2: 3,178,290 D51V possibly damaging Het
Farp2 A G 1: 93,561,174 R107G possibly damaging Het
Gemin6 T C 17: 80,227,865 F85L possibly damaging Het
Hivep3 A C 4: 120,098,374 T1296P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt T A 5: 34,818,677 S670T probably benign Het
Klhl24 A T 16: 20,122,967 N555I possibly damaging Het
Limd1 T A 9: 123,479,883 S216T probably benign Het
Lmf2 A T 15: 89,353,899 I234N probably damaging Het
Mrpl4 C A 9: 21,008,567 D271E probably benign Het
Mydgf C T 17: 56,179,407 G75R probably damaging Het
Nat1 A G 8: 67,490,978 D5G possibly damaging Het
Olfr178 A C 16: 58,889,685 H178Q probably damaging Het
Olfr190 A T 16: 59,074,689 Y130* probably null Het
Olfr325 T C 11: 58,581,810 V322A probably benign Het
Pla2g4c T A 7: 13,344,026 M363K probably benign Het
Prex1 A G 2: 166,638,409 F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 D670G probably damaging Het
Rrp12 C A 19: 41,871,792 M997I possibly damaging Het
Scn3a A G 2: 65,497,392 V918A probably benign Het
Slc35g2 A G 9: 100,552,463 V385A probably damaging Het
Slit1 A T 19: 41,602,300 I1311N probably damaging Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ucp2 A G 7: 100,498,422 T203A probably benign Het
Upk1b C T 16: 38,779,985 G211D possibly damaging Het
Vmn1r220 A T 13: 23,183,765 F254I probably benign Het
Zcchc4 T C 5: 52,808,296 F314S probably damaging Het
Other mutations in Cep41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02640:Cep41 APN 6 30658868 missense probably benign 0.00
PIT4480001:Cep41 UTSW 6 30658413 missense probably damaging 1.00
R0627:Cep41 UTSW 6 30656631 missense probably damaging 1.00
R1416:Cep41 UTSW 6 30657357 missense probably damaging 0.97
R1856:Cep41 UTSW 6 30661006 missense probably damaging 0.96
R2265:Cep41 UTSW 6 30660916 missense possibly damaging 0.50
R3881:Cep41 UTSW 6 30658398 missense probably damaging 1.00
R4488:Cep41 UTSW 6 30655689 utr 3 prime probably benign
R4678:Cep41 UTSW 6 30671319 splice site probably null
R4758:Cep41 UTSW 6 30671369 splice site probably benign
R6491:Cep41 UTSW 6 30656484 missense probably benign 0.10
R7344:Cep41 UTSW 6 30693656 missense probably benign 0.00
Posted On2013-04-17