Incidental Mutation 'R1541:Clvs1'
ID 171715
Institutional Source Beutler Lab
Gene Symbol Clvs1
Ensembl Gene ENSMUSG00000041216
Gene Name clavesin 1
Synonyms 4933402J24Rik, Rlbp1l1
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1541 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 9269293-9451691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9281814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 86 (H86R)
Ref Sequence ENSEMBL: ENSMUSP00000103985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038841] [ENSMUST00000108348]
AlphaFold Q9D4C9
Predicted Effect probably benign
Transcript: ENSMUST00000038841
AA Change: H86R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000035649
Gene: ENSMUSG00000041216
AA Change: H86R

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 benign
Transcript: ENSMUST00000108348
AA Change: H86R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103985
Gene: ENSMUSG00000041216
AA Change: H86R

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
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Ccdc33 T A 9: 58,024,749 (GRCm39) D159V probably damaging Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dis3l T C 9: 64,214,771 (GRCm39) I933V probably benign Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dtx1 T A 5: 120,848,411 (GRCm39) probably benign Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc71 T C 3: 87,649,148 (GRCm39) D340G possibly damaging Het
Luzp1 A G 4: 136,270,636 (GRCm39) D953G probably damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Ogdhl G A 14: 32,062,624 (GRCm39) R570H possibly damaging Het
Or5p56 T C 7: 107,590,048 (GRCm39) F159L probably benign Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Plag1 A G 4: 3,904,085 (GRCm39) S369P probably benign Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sec24a T A 11: 51,634,623 (GRCm39) H101L probably benign Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K probably damaging Het
Other mutations in Clvs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Clvs1 APN 4 9,281,939 (GRCm39) missense probably damaging 1.00
IGL01293:Clvs1 APN 4 9,281,559 (GRCm39) start codon destroyed probably null
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
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
Predicted Primers PCR Primer
(F):5'- CACACTTCCATGTGAATGGGACCAG -3'
(R):5'- GGCAGCAAACAGCAAGAGAATCTTC -3'

Sequencing Primer
(F):5'- GCCAAGATGACGCATTTGC -3'
(R):5'- CAAGAGAATCTTCCTGCCATAGTG -3'
Posted On 2014-04-13