Incidental Mutation 'R4531:Vwce'
ID 333129
Institutional Source Beutler Lab
Gene Symbol Vwce
Ensembl Gene ENSMUSG00000043789
Gene Name von Willebrand factor C and EGF domains
Synonyms 1300015B04Rik
MMRRC Submission 041771-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R4531 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 10611582-10643577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 10641710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 812 (E812A)
Ref Sequence ENSEMBL: ENSMUSP00000056958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025647] [ENSMUST00000055115]
AlphaFold Q3U515
Predicted Effect probably benign
Transcript: ENSMUST00000025647
SMART Domains Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738

DomainStartEndE-ValueType
Pfam:A1_Propeptide 16 44 1.1e-13 PFAM
Pfam:Asp 73 386 1.1e-112 PFAM
Pfam:TAXi_N 74 229 7.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055115
AA Change: E812A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: E812A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
EGF 70 98 2.2e1 SMART
EGF_CA 142 180 6.91e-9 SMART
EGF_CA 181 219 7.75e-12 SMART
EGF_CA 220 262 1.11e-12 SMART
low complexity region 294 312 N/A INTRINSIC
low complexity region 335 353 N/A INTRINSIC
VWC 378 432 2.91e-6 SMART
VWC 435 488 4.58e-4 SMART
VWC 493 551 2.06e-6 SMART
VWC 560 617 9.74e-8 SMART
VWC 621 676 1.35e-10 SMART
VWC 679 725 2.58e-1 SMART
low complexity region 761 772 N/A INTRINSIC
low complexity region 889 903 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,736,962 (GRCm39) T526A probably benign Het
Acad12 T C 5: 121,736,964 (GRCm39) Q525R probably benign Het
Cnot3 T C 7: 3,661,073 (GRCm39) V558A probably benign Het
Cntnap4 G A 8: 113,537,240 (GRCm39) V704M possibly damaging Het
Col22a1 T C 15: 71,878,998 (GRCm39) D53G probably damaging Het
Cspp1 T A 1: 10,137,072 (GRCm39) probably benign Het
Cyp2d10 T A 15: 82,289,462 (GRCm39) T217S probably benign Het
Dcaf6 T C 1: 165,239,036 (GRCm39) T229A probably damaging Het
E4f1 A T 17: 24,664,961 (GRCm39) S408T possibly damaging Het
Eif1ad19 G A 12: 87,740,314 (GRCm39) Q82* probably null Het
Gpr149 A G 3: 62,510,099 (GRCm39) F339L probably benign Het
Hmbox1 A T 14: 65,062,938 (GRCm39) C413S probably benign Het
Kmo T C 1: 175,487,273 (GRCm39) probably null Het
Lin54 G A 5: 100,594,419 (GRCm39) T582I possibly damaging Het
Lrpprc T C 17: 85,020,215 (GRCm39) I1157V probably benign Het
Obscn A G 11: 58,898,700 (GRCm39) probably benign Het
Or14c40 T A 7: 86,313,479 (GRCm39) L203H probably benign Het
Or8k23 A T 2: 86,186,318 (GRCm39) M136K probably damaging Het
Pclo A G 5: 14,825,422 (GRCm39) D4657G unknown Het
Pgd T C 4: 149,241,234 (GRCm39) K225R probably benign Het
Poli A T 18: 70,650,548 (GRCm39) H297Q probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc24a2 T C 4: 86,909,715 (GRCm39) I668V possibly damaging Het
Tdrd6 A G 17: 43,939,645 (GRCm39) S468P probably damaging Het
Trav6-4 A G 14: 53,691,790 (GRCm39) T3A probably benign Het
Trpc2 G T 7: 101,745,205 (GRCm39) R807L probably damaging Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Tubgcp3 G T 8: 12,713,932 (GRCm39) L62I probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Zmynd12 T C 4: 119,280,194 (GRCm39) probably null Het
Other mutations in Vwce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Vwce APN 19 10,641,875 (GRCm39) splice site probably null
IGL01358:Vwce APN 19 10,641,773 (GRCm39) missense possibly damaging 0.86
IGL02330:Vwce APN 19 10,624,165 (GRCm39) missense possibly damaging 0.96
IGL02477:Vwce APN 19 10,641,982 (GRCm39) splice site probably null
IGL02551:Vwce APN 19 10,622,400 (GRCm39) missense possibly damaging 0.71
IGL02606:Vwce APN 19 10,632,712 (GRCm39) splice site probably benign
IGL02633:Vwce APN 19 10,625,858 (GRCm39) missense probably damaging 0.98
IGL02656:Vwce APN 19 10,641,716 (GRCm39) missense probably benign
IGL02884:Vwce APN 19 10,623,943 (GRCm39) missense possibly damaging 0.53
IGL02973:Vwce APN 19 10,632,764 (GRCm39) nonsense probably null
IGL03038:Vwce APN 19 10,624,035 (GRCm39) missense possibly damaging 0.86
IGL03329:Vwce APN 19 10,637,360 (GRCm39) missense possibly damaging 0.73
PIT4403001:Vwce UTSW 19 10,615,461 (GRCm39) missense possibly damaging 0.53
PIT4431001:Vwce UTSW 19 10,641,946 (GRCm39) missense possibly damaging 0.53
PIT4519001:Vwce UTSW 19 10,641,946 (GRCm39) missense possibly damaging 0.53
R0042:Vwce UTSW 19 10,624,177 (GRCm39) missense probably benign
R0081:Vwce UTSW 19 10,641,453 (GRCm39) critical splice acceptor site probably null
R0142:Vwce UTSW 19 10,641,976 (GRCm39) missense probably damaging 0.97
R0165:Vwce UTSW 19 10,637,337 (GRCm39) splice site probably benign
R0948:Vwce UTSW 19 10,630,441 (GRCm39) missense probably damaging 1.00
R1053:Vwce UTSW 19 10,641,463 (GRCm39) missense probably benign 0.18
R1505:Vwce UTSW 19 10,641,608 (GRCm39) missense probably benign
R1623:Vwce UTSW 19 10,624,108 (GRCm39) nonsense probably null
R1672:Vwce UTSW 19 10,630,459 (GRCm39) missense possibly damaging 0.92
R1882:Vwce UTSW 19 10,615,520 (GRCm39) missense possibly damaging 0.53
R3849:Vwce UTSW 19 10,624,269 (GRCm39) missense probably damaging 0.97
R4292:Vwce UTSW 19 10,636,996 (GRCm39) missense probably benign 0.00
R4293:Vwce UTSW 19 10,636,996 (GRCm39) missense probably benign 0.00
R4678:Vwce UTSW 19 10,642,012 (GRCm39) missense possibly damaging 0.86
R4720:Vwce UTSW 19 10,625,831 (GRCm39) missense possibly damaging 0.85
R4737:Vwce UTSW 19 10,627,943 (GRCm39) missense probably benign 0.33
R4864:Vwce UTSW 19 10,628,000 (GRCm39) missense probably benign 0.01
R4916:Vwce UTSW 19 10,624,243 (GRCm39) missense probably damaging 0.98
R4939:Vwce UTSW 19 10,622,414 (GRCm39) missense probably damaging 0.98
R5605:Vwce UTSW 19 10,635,402 (GRCm39) missense possibly damaging 0.95
R5735:Vwce UTSW 19 10,624,431 (GRCm39) missense probably benign 0.08
R5780:Vwce UTSW 19 10,627,983 (GRCm39) missense probably damaging 1.00
R6158:Vwce UTSW 19 10,621,585 (GRCm39) missense possibly damaging 0.91
R6383:Vwce UTSW 19 10,636,956 (GRCm39) nonsense probably null
R6920:Vwce UTSW 19 10,642,057 (GRCm39) missense probably benign
R7201:Vwce UTSW 19 10,615,479 (GRCm39) missense possibly damaging 0.72
R7276:Vwce UTSW 19 10,641,538 (GRCm39) missense possibly damaging 0.53
R7423:Vwce UTSW 19 10,641,704 (GRCm39) missense probably benign 0.02
R7474:Vwce UTSW 19 10,624,305 (GRCm39) missense possibly damaging 0.93
R7843:Vwce UTSW 19 10,641,647 (GRCm39) missense probably benign 0.01
R8254:Vwce UTSW 19 10,627,938 (GRCm39) missense probably damaging 0.98
R8782:Vwce UTSW 19 10,615,491 (GRCm39) missense probably benign 0.33
R9154:Vwce UTSW 19 10,625,850 (GRCm39) missense possibly damaging 0.91
R9369:Vwce UTSW 19 10,624,061 (GRCm39) missense probably benign 0.04
R9458:Vwce UTSW 19 10,631,688 (GRCm39) missense possibly damaging 0.95
R9664:Vwce UTSW 19 10,615,481 (GRCm39) missense probably benign 0.33
RF020:Vwce UTSW 19 10,630,449 (GRCm39) missense probably damaging 1.00
X0018:Vwce UTSW 19 10,634,026 (GRCm39) missense possibly damaging 0.86
Z1177:Vwce UTSW 19 10,624,227 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- CCATCCCCTCATGGAGAACTTG -3'
(R):5'- GAAGCCACTGGAATGCTGTC -3'

Sequencing Primer
(F):5'- CTCATGGAGAACTTGCCAAAGCTG -3'
(R):5'- ATGCTGTCTGAGTCCCAAAG -3'
Posted On 2015-08-18