Incidental Mutation 'R7492:Vwde'
ID 580835
Institutional Source Beutler Lab
Gene Symbol Vwde
Ensembl Gene ENSMUSG00000079679
Gene Name von Willebrand factor D and EGF domains
Synonyms LOC232585
MMRRC Submission 045566-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R7492 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 13156439-13224964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13204980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 300 (K300N)
Ref Sequence ENSEMBL: ENSMUSP00000058110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054530] [ENSMUST00000054530] [ENSMUST00000203074] [ENSMUST00000203074]
AlphaFold Q6DFV8
Predicted Effect probably null
Transcript: ENSMUST00000054530
AA Change: K300N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: K300N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:ZP 58 163 1e-5 BLAST
low complexity region 192 199 N/A INTRINSIC
VWD 420 588 1.51e-4 SMART
low complexity region 638 651 N/A INTRINSIC
Blast:EGF_like 890 918 2e-9 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000054530
AA Change: K300N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: K300N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:ZP 58 163 1e-5 BLAST
low complexity region 192 199 N/A INTRINSIC
VWD 420 588 1.51e-4 SMART
low complexity region 638 651 N/A INTRINSIC
Blast:EGF_like 890 918 2e-9 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000203074
AA Change: K300N

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: K300N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 192 199 N/A INTRINSIC
VWD 420 588 7.4e-7 SMART
low complexity region 638 651 N/A INTRINSIC
EGF_like 890 918 1.5e-1 SMART
EGF 1166 1217 8.5e-6 SMART
EGF_like 1182 1233 2.7e-2 SMART
EGF 1222 1254 9.7e-7 SMART
EGF_CA 1256 1295 5.3e-12 SMART
EGF 1446 1483 5e-2 SMART
EGF 1485 1514 3.8e-3 SMART
EGF 1517 1546 3.6e-3 SMART
EGF 1549 1578 8e-7 SMART
EGF 1581 1610 3.4e-3 SMART
EGF 1613 1642 1.5e-3 SMART
EGF 1645 1674 1.1e-5 SMART
EGF 1677 1706 2.5e-4 SMART
EGF 1709 1738 2.5e-3 SMART
EGF 1741 1770 1.8e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000203074
AA Change: K300N

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: K300N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 192 199 N/A INTRINSIC
VWD 420 588 7.4e-7 SMART
low complexity region 638 651 N/A INTRINSIC
EGF_like 890 918 1.5e-1 SMART
EGF 1166 1217 8.5e-6 SMART
EGF_like 1182 1233 2.7e-2 SMART
EGF 1222 1254 9.7e-7 SMART
EGF_CA 1256 1295 5.3e-12 SMART
EGF 1446 1483 5e-2 SMART
EGF 1485 1514 3.8e-3 SMART
EGF 1517 1546 3.6e-3 SMART
EGF 1549 1578 8e-7 SMART
EGF 1581 1610 3.4e-3 SMART
EGF 1613 1642 1.5e-3 SMART
EGF 1645 1674 1.1e-5 SMART
EGF 1677 1706 2.5e-4 SMART
EGF 1709 1738 2.5e-3 SMART
EGF 1741 1770 1.8e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,948,560 (GRCm39) D819G possibly damaging Het
Abca13 A T 11: 9,243,167 (GRCm39) I1677L probably benign Het
Ablim2 A G 5: 35,998,673 (GRCm39) S367G probably benign Het
Afdn G C 17: 14,068,638 (GRCm39) probably null Het
Aldh6a1 A G 12: 84,483,640 (GRCm39) L302P probably damaging Het
Ank3 A G 10: 69,718,357 (GRCm39) D536G unknown Het
Ankrd17 A G 5: 90,381,807 (GRCm39) V2454A possibly damaging Het
Apol7e G A 15: 77,601,656 (GRCm39) E85K possibly damaging Het
Atmin A G 8: 117,683,657 (GRCm39) D439G probably damaging Het
AU040320 G T 4: 126,741,648 (GRCm39) C952F possibly damaging Het
Btbd8 G A 5: 107,658,373 (GRCm39) E1648K probably benign Het
C6 A G 15: 4,761,196 (GRCm39) S19G probably benign Het
Ccdc180 A T 4: 45,930,009 (GRCm39) probably null Het
Cntn1 A C 15: 92,212,423 (GRCm39) T862P probably benign Het
Col5a1 T C 2: 27,859,812 (GRCm39) probably null Het
D430041D05Rik T C 2: 104,031,650 (GRCm39) K964E probably damaging Het
Dnajc18 T C 18: 35,819,846 (GRCm39) Y145C probably damaging Het
Dsc1 C T 18: 20,240,737 (GRCm39) C196Y possibly damaging Het
Efcab11 A C 12: 99,844,660 (GRCm39) I58R possibly damaging Het
Fam81b T A 13: 76,419,398 (GRCm39) I51F probably benign Het
Fbln1 G A 15: 85,111,262 (GRCm39) V139M probably damaging Het
Fbxw25 A G 9: 109,493,598 (GRCm39) probably null Het
Fech C T 18: 64,600,842 (GRCm39) W220* probably null Het
Fgl1 C T 8: 41,644,624 (GRCm39) W293* probably null Het
Firrm A G 1: 163,786,897 (GRCm39) I724T probably benign Het
Foxi2 T C 7: 135,012,301 (GRCm39) L63P probably damaging Het
Frmpd1 A G 4: 45,285,237 (GRCm39) R1353G possibly damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Galnt5 T A 2: 57,916,048 (GRCm39) probably null Het
Glb1 A T 9: 114,303,017 (GRCm39) I618F probably damaging Het
Hs2st1 A T 3: 144,141,357 (GRCm39) M237K probably benign Het
Ighm T C 12: 113,386,293 (GRCm39) D19G Het
Il1f10 A G 2: 24,182,829 (GRCm39) D35G probably benign Het
Itpr2 G A 6: 146,292,436 (GRCm39) T419I probably damaging Het
Khdc1a A T 1: 21,420,542 (GRCm39) E54V possibly damaging Het
Kif19a A G 11: 114,681,065 (GRCm39) D991G probably benign Het
Klhl18 A C 9: 110,257,843 (GRCm39) Y532* probably null Het
Lama1 T C 17: 68,124,646 (GRCm39) F2902S Het
Lrba T C 3: 86,571,835 (GRCm39) S2380P probably damaging Het
Lrp2 T A 2: 69,367,925 (GRCm39) I196F probably damaging Het
Macf1 T C 4: 123,369,524 (GRCm39) K1746E possibly damaging Het
Megf10 T C 18: 57,424,866 (GRCm39) Y1002H probably benign Het
Megf8 A G 7: 25,053,273 (GRCm39) T1815A probably benign Het
Mtg1 T C 7: 139,724,610 (GRCm39) L162P probably damaging Het
Myo6 T A 9: 80,195,328 (GRCm39) Y899* probably null Het
Nlrp9a A T 7: 26,257,081 (GRCm39) D233V probably damaging Het
Or10al6 A T 17: 38,082,571 (GRCm39) Q9L possibly damaging Het
Or2z2 T A 11: 58,346,715 (GRCm39) N20I probably benign Het
Or4k45 C A 2: 111,395,166 (GRCm39) V208L probably benign Het
Or6c201 T A 10: 128,969,509 (GRCm39) I43F probably damaging Het
Or8k36-ps1 T A 2: 86,437,063 (GRCm39) N284I unknown Het
Parvb A T 15: 84,174,651 (GRCm39) Q148L probably damaging Het
Pcdhb11 C T 18: 37,556,497 (GRCm39) T609M probably damaging Het
Pcdhga3 A T 18: 37,809,178 (GRCm39) T544S probably benign Het
Pkd1 C G 17: 24,788,715 (GRCm39) I824M probably benign Het
Pkd1l2 A T 8: 117,794,849 (GRCm39) L370Q probably damaging Het
Plcb1 G T 2: 135,093,684 (GRCm39) E166* probably null Het
Pnpt1 A G 11: 29,085,522 (GRCm39) I138V probably benign Het
Pou4f3 T C 18: 42,528,996 (GRCm39) L313P probably damaging Het
Pramel21 C A 4: 143,342,744 (GRCm39) Q284K not run Het
Prep A G 10: 44,996,910 (GRCm39) Y396C probably damaging Het
Prkd3 A T 17: 79,269,974 (GRCm39) C562* probably null Het
Prss12 T A 3: 123,276,425 (GRCm39) C351* probably null Het
Rnf41 C A 10: 128,274,283 (GRCm39) H312N probably damaging Het
Ror1 C T 4: 100,298,256 (GRCm39) T543I probably benign Het
Rreb1 G A 13: 38,115,724 (GRCm39) V1028I probably benign Het
Setd2 T A 9: 110,423,700 (GRCm39) S474T Het
Slc1a2 T A 2: 102,570,275 (GRCm39) C184* probably null Het
Slc2a4 G A 11: 69,837,202 (GRCm39) T78I probably benign Het
Slc4a4 T A 5: 89,277,509 (GRCm39) I317N possibly damaging Het
Smad9 G A 3: 54,693,747 (GRCm39) probably null Het
Sst T C 16: 23,708,576 (GRCm39) E85G probably damaging Het
Sting1 T C 18: 35,871,766 (GRCm39) Y162C probably damaging Het
Svep1 T G 4: 58,066,468 (GRCm39) E3205D possibly damaging Het
Tmc7 G T 7: 118,141,189 (GRCm39) S647R probably benign Het
Trnt1 T C 6: 106,751,493 (GRCm39) S157P possibly damaging Het
Ttc6 A T 12: 57,719,922 (GRCm39) H831L probably benign Het
Vmn1r121 A G 7: 20,832,095 (GRCm39) F115S probably damaging Het
Vwa7 A G 17: 35,238,020 (GRCm39) D207G possibly damaging Het
Zfp418 A G 7: 7,184,396 (GRCm39) T120A possibly damaging Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging Het
Other mutations in Vwde
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Vwde APN 6 13,187,411 (GRCm39) missense probably benign 0.00
IGL01391:Vwde APN 6 13,190,526 (GRCm39) missense probably benign 0.07
IGL01432:Vwde APN 6 13,193,239 (GRCm39) missense probably benign 0.18
IGL01611:Vwde APN 6 13,219,977 (GRCm39) missense probably damaging 1.00
IGL01835:Vwde APN 6 13,186,823 (GRCm39) missense probably benign 0.43
IGL01993:Vwde APN 6 13,219,977 (GRCm39) missense possibly damaging 0.89
IGL01997:Vwde APN 6 13,215,705 (GRCm39) missense probably damaging 1.00
IGL02390:Vwde APN 6 13,190,684 (GRCm39) missense probably damaging 1.00
IGL02612:Vwde APN 6 13,187,148 (GRCm39) missense probably damaging 1.00
IGL02723:Vwde APN 6 13,205,759 (GRCm39) missense probably damaging 0.99
IGL02731:Vwde APN 6 13,192,613 (GRCm39) missense probably damaging 1.00
IGL02869:Vwde APN 6 13,187,136 (GRCm39) missense probably damaging 1.00
IGL02981:Vwde APN 6 13,193,112 (GRCm39) missense possibly damaging 0.84
IGL03031:Vwde APN 6 13,208,381 (GRCm39) missense probably benign 0.10
IGL03180:Vwde APN 6 13,205,764 (GRCm39) missense probably damaging 1.00
IGL03182:Vwde APN 6 13,187,138 (GRCm39) missense probably damaging 1.00
willy_brandt UTSW 6 13,208,404 (GRCm39) splice site probably null
C9142:Vwde UTSW 6 13,168,053 (GRCm39) splice site probably benign
R0089:Vwde UTSW 6 13,220,004 (GRCm39) missense probably damaging 1.00
R0244:Vwde UTSW 6 13,193,125 (GRCm39) missense probably benign 0.16
R0355:Vwde UTSW 6 13,187,806 (GRCm39) splice site probably benign
R0455:Vwde UTSW 6 13,187,528 (GRCm39) missense probably benign 0.03
R0465:Vwde UTSW 6 13,215,805 (GRCm39) splice site probably benign
R0946:Vwde UTSW 6 13,187,874 (GRCm39) missense probably damaging 1.00
R1087:Vwde UTSW 6 13,186,803 (GRCm39) missense probably damaging 1.00
R1236:Vwde UTSW 6 13,187,152 (GRCm39) nonsense probably null
R1738:Vwde UTSW 6 13,190,723 (GRCm39) missense probably damaging 1.00
R1891:Vwde UTSW 6 13,187,454 (GRCm39) missense probably damaging 0.98
R2014:Vwde UTSW 6 13,208,337 (GRCm39) missense possibly damaging 0.91
R2015:Vwde UTSW 6 13,208,337 (GRCm39) missense possibly damaging 0.91
R2303:Vwde UTSW 6 13,215,806 (GRCm39) splice site probably benign
R3439:Vwde UTSW 6 13,208,374 (GRCm39) missense probably damaging 0.98
R3688:Vwde UTSW 6 13,186,891 (GRCm39) missense probably damaging 0.96
R4457:Vwde UTSW 6 13,196,100 (GRCm39) missense probably damaging 1.00
R4755:Vwde UTSW 6 13,205,851 (GRCm39) missense possibly damaging 0.94
R4849:Vwde UTSW 6 13,196,047 (GRCm39) missense possibly damaging 0.92
R4850:Vwde UTSW 6 13,196,047 (GRCm39) missense possibly damaging 0.92
R4851:Vwde UTSW 6 13,196,047 (GRCm39) missense possibly damaging 0.92
R4853:Vwde UTSW 6 13,215,639 (GRCm39) missense probably damaging 1.00
R4951:Vwde UTSW 6 13,187,138 (GRCm39) missense probably damaging 1.00
R5023:Vwde UTSW 6 13,192,641 (GRCm39) missense possibly damaging 0.48
R5057:Vwde UTSW 6 13,192,641 (GRCm39) missense possibly damaging 0.48
R5060:Vwde UTSW 6 13,208,323 (GRCm39) splice site probably null
R5126:Vwde UTSW 6 13,187,259 (GRCm39) missense probably benign 0.04
R5154:Vwde UTSW 6 13,215,757 (GRCm39) missense probably benign 0.01
R5277:Vwde UTSW 6 13,186,995 (GRCm39) missense probably benign 0.03
R5432:Vwde UTSW 6 13,190,591 (GRCm39) missense probably damaging 1.00
R5436:Vwde UTSW 6 13,190,627 (GRCm39) missense probably damaging 1.00
R5472:Vwde UTSW 6 13,193,117 (GRCm39) missense probably benign 0.00
R5518:Vwde UTSW 6 13,186,937 (GRCm39) missense probably benign 0.00
R5791:Vwde UTSW 6 13,195,985 (GRCm39) nonsense probably null
R6045:Vwde UTSW 6 13,219,935 (GRCm39) missense probably damaging 1.00
R6262:Vwde UTSW 6 13,205,020 (GRCm39) missense probably damaging 1.00
R6482:Vwde UTSW 6 13,205,843 (GRCm39) missense probably damaging 1.00
R6500:Vwde UTSW 6 13,208,404 (GRCm39) splice site probably null
R6562:Vwde UTSW 6 13,193,122 (GRCm39) missense possibly damaging 0.84
R6905:Vwde UTSW 6 13,205,926 (GRCm39) missense probably damaging 1.00
R7021:Vwde UTSW 6 13,186,905 (GRCm39) missense probably damaging 1.00
R7103:Vwde UTSW 6 13,215,799 (GRCm39) missense probably benign 0.03
R7356:Vwde UTSW 6 13,192,641 (GRCm39) missense probably damaging 0.96
R7434:Vwde UTSW 6 13,187,639 (GRCm39) missense probably benign 0.00
R8026:Vwde UTSW 6 13,205,782 (GRCm39) missense probably benign 0.16
R8544:Vwde UTSW 6 13,187,652 (GRCm39) missense probably benign 0.00
R8557:Vwde UTSW 6 13,193,136 (GRCm39) missense probably damaging 1.00
R8995:Vwde UTSW 6 13,195,996 (GRCm39) missense probably damaging 1.00
R9112:Vwde UTSW 6 13,205,051 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- GTTGGCCATCATTGGGAAGAG -3'
(R):5'- ACCATGTGTGCATTGGATGTC -3'

Sequencing Primer
(F):5'- CAAACTTTATATGCCTCAGTTCGGGG -3'
(R):5'- GGGTATTAGATCCCCCAAATCTGG -3'
Posted On 2019-10-17