Incidental Mutation 'IGL01293:Clvs1'
ID 73000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clvs1
Ensembl Gene ENSMUSG00000041216
Gene Name clavesin 1
Synonyms 4933402J24Rik, Rlbp1l1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01293
Quality Score
Status
Chromosome 4
Chromosomal Location 9269293-9451691 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 9281559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000103985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038841] [ENSMUST00000108348]
AlphaFold Q9D4C9
Predicted Effect probably null
Transcript: ENSMUST00000038841
AA Change: M1K
SMART Domains Protein: ENSMUSP00000035649
Gene: ENSMUSG00000041216
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
CRAL_TRIO_N 72 97 5.34e-6 SMART
SEC14 118 276 1.98e-36 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108348
AA Change: M1K
SMART Domains Protein: ENSMUSP00000103985
Gene: ENSMUSG00000041216
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
CRAL_TRIO_N 72 97 5.34e-6 SMART
SEC14 118 276 1.98e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149848
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Clvs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Clvs1 APN 4 9,281,939 (GRCm39) missense probably damaging 1.00
IGL01463:Clvs1 APN 4 9,429,818 (GRCm39) missense probably benign 0.27
IGL03031:Clvs1 APN 4 9,449,385 (GRCm39) splice site probably benign
R0472:Clvs1 UTSW 4 9,281,801 (GRCm39) missense probably damaging 1.00
R0496:Clvs1 UTSW 4 9,424,241 (GRCm39) missense probably damaging 1.00
R0848:Clvs1 UTSW 4 9,282,003 (GRCm39) missense possibly damaging 0.83
R1541:Clvs1 UTSW 4 9,281,814 (GRCm39) missense probably benign 0.00
R1992:Clvs1 UTSW 4 9,281,899 (GRCm39) missense probably benign 0.01
R2901:Clvs1 UTSW 4 9,281,972 (GRCm39) missense probably damaging 0.96
R2902:Clvs1 UTSW 4 9,281,972 (GRCm39) missense probably damaging 0.96
R4321:Clvs1 UTSW 4 9,282,029 (GRCm39) intron probably benign
R4934:Clvs1 UTSW 4 9,424,216 (GRCm39) missense possibly damaging 0.91
R4946:Clvs1 UTSW 4 9,281,831 (GRCm39) nonsense probably null
R4970:Clvs1 UTSW 4 9,350,857 (GRCm39) intron probably benign
R5187:Clvs1 UTSW 4 9,281,865 (GRCm39) missense possibly damaging 0.53
R5327:Clvs1 UTSW 4 9,424,261 (GRCm39) missense probably damaging 1.00
R5605:Clvs1 UTSW 4 9,281,751 (GRCm39) missense probably damaging 0.98
R5940:Clvs1 UTSW 4 9,449,443 (GRCm39) missense possibly damaging 0.96
R6818:Clvs1 UTSW 4 9,282,014 (GRCm39) critical splice donor site probably null
R6857:Clvs1 UTSW 4 9,449,433 (GRCm39) missense probably benign 0.00
R7692:Clvs1 UTSW 4 9,350,739 (GRCm39) missense probably benign 0.23
R8247:Clvs1 UTSW 4 9,281,885 (GRCm39) missense possibly damaging 0.77
R8791:Clvs1 UTSW 4 9,429,807 (GRCm39) missense probably damaging 1.00
R9500:Clvs1 UTSW 4 9,429,834 (GRCm39) missense probably damaging 0.98
Posted On 2013-10-07