Incidental Mutation 'R4172:Vwa5a'
ID 318180
Institutional Source Beutler Lab
Gene Symbol Vwa5a
Ensembl Gene ENSMUSG00000023186
Gene Name von Willebrand factor A domain containing 5A
Synonyms 5830475I06Rik, Loh11cr2a, BCSC-1
MMRRC Submission 044391-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4172 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38629564-38654633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38635166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 224 (F224L)
Ref Sequence ENSEMBL: ENSMUSP00000113596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001544] [ENSMUST00000118144] [ENSMUST00000129598]
AlphaFold Q99KC8
Predicted Effect probably damaging
Transcript: ENSMUST00000001544
AA Change: F224L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: F224L

DomainStartEndE-ValueType
VIT 1 131 2.59e-61 SMART
VWA 279 460 2.61e-12 SMART
low complexity region 615 629 N/A INTRINSIC
low complexity region 664 678 N/A INTRINSIC
Blast:VWA 681 713 2e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000118144
AA Change: F224L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: F224L

DomainStartEndE-ValueType
VIT 1 131 2.59e-61 SMART
VWA 279 460 2.61e-12 SMART
low complexity region 615 629 N/A INTRINSIC
low complexity region 664 678 N/A INTRINSIC
Blast:VWA 681 713 2e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000129598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149376
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akip1 C T 7: 109,306,716 (GRCm39) Q138* probably null Het
Cdc5l A G 17: 45,730,698 (GRCm39) I196T probably damaging Het
Dnah7b G T 1: 46,266,106 (GRCm39) R2225L probably damaging Het
Gfra2 C A 14: 71,133,521 (GRCm39) T117K possibly damaging Het
Gle1 T C 2: 29,828,538 (GRCm39) I120T probably benign Het
Guf1 T A 5: 69,715,572 (GRCm39) N52K possibly damaging Het
Helq T C 5: 100,919,713 (GRCm39) K813E probably benign Het
Ighv7-4 A T 12: 114,186,635 (GRCm39) F46I probably damaging Het
Il6st G A 13: 112,631,861 (GRCm39) D467N probably benign Het
Jak1 C A 4: 101,016,329 (GRCm39) V812L probably benign Het
Kank4 G T 4: 98,667,358 (GRCm39) T363K probably damaging Het
Lcat C A 8: 106,669,059 (GRCm39) W72L possibly damaging Het
Map2 T C 1: 66,452,759 (GRCm39) S392P possibly damaging Het
Mtmr2 T C 9: 13,711,358 (GRCm39) F456L probably damaging Het
Myh8 A T 11: 67,183,247 (GRCm39) R709W probably damaging Het
Nop14 T C 5: 34,807,951 (GRCm39) N337S probably damaging Het
Npbwr1 A G 1: 5,987,155 (GRCm39) Y120H probably damaging Het
Or4c58 T G 2: 89,675,122 (GRCm39) D65A probably damaging Het
Oxsm A T 14: 16,242,079 (GRCm38) V230E probably damaging Het
Paox G A 7: 139,713,941 (GRCm39) G234R probably damaging Het
Polq C T 16: 36,881,120 (GRCm39) H1095Y probably benign Het
Rad51c T C 11: 87,293,572 (GRCm39) T77A probably damaging Het
Ryr3 C A 2: 112,624,815 (GRCm39) V2202F probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Snx27 T C 3: 94,410,794 (GRCm39) H452R probably benign Het
Son C T 16: 91,456,250 (GRCm39) H1666Y probably damaging Het
Spata25 C A 2: 164,669,408 (GRCm39) W201L possibly damaging Het
Spint2 A G 7: 28,963,097 (GRCm39) V67A probably damaging Het
Srgap1 T C 10: 121,691,268 (GRCm39) Y322C probably benign Het
Synm T C 7: 67,385,109 (GRCm39) Y409C probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tpm1 T C 9: 66,930,649 (GRCm39) N283D probably benign Het
Trpv6 T C 6: 41,602,432 (GRCm39) D318G probably damaging Het
Ube2j2 A G 4: 156,033,543 (GRCm39) D39G probably damaging Het
Ubr1 C T 2: 120,777,103 (GRCm39) probably null Het
Zfp445 T A 9: 122,681,002 (GRCm39) M980L probably benign Het
Other mutations in Vwa5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Vwa5a APN 9 38,649,110 (GRCm39) splice site probably null
IGL00966:Vwa5a APN 9 38,634,675 (GRCm39) missense probably benign 0.24
IGL01597:Vwa5a APN 9 38,645,161 (GRCm39) missense probably damaging 1.00
IGL01950:Vwa5a APN 9 38,638,266 (GRCm39) missense probably damaging 1.00
IGL02008:Vwa5a APN 9 38,649,072 (GRCm39) missense probably benign 0.08
IGL02326:Vwa5a APN 9 38,649,252 (GRCm39) missense probably benign
IGL02378:Vwa5a APN 9 38,645,266 (GRCm39) missense probably benign 0.41
IGL02442:Vwa5a APN 9 38,646,080 (GRCm39) missense probably benign 0.02
IGL02458:Vwa5a APN 9 38,638,259 (GRCm39) missense possibly damaging 0.79
IGL02570:Vwa5a APN 9 38,646,167 (GRCm39) unclassified probably benign
IGL03068:Vwa5a APN 9 38,646,143 (GRCm39) missense probably benign 0.45
R0126:Vwa5a UTSW 9 38,649,103 (GRCm39) splice site probably null
R0325:Vwa5a UTSW 9 38,639,961 (GRCm39) missense probably damaging 1.00
R0617:Vwa5a UTSW 9 38,635,191 (GRCm39) missense probably damaging 1.00
R0928:Vwa5a UTSW 9 38,639,303 (GRCm39) missense probably damaging 1.00
R1334:Vwa5a UTSW 9 38,646,037 (GRCm39) missense probably benign 0.01
R1446:Vwa5a UTSW 9 38,645,264 (GRCm39) missense possibly damaging 0.95
R1708:Vwa5a UTSW 9 38,639,128 (GRCm39) missense probably benign
R1986:Vwa5a UTSW 9 38,649,110 (GRCm39) splice site probably benign
R2024:Vwa5a UTSW 9 38,647,357 (GRCm39) missense probably damaging 0.98
R2230:Vwa5a UTSW 9 38,645,174 (GRCm39) missense probably null 1.00
R2252:Vwa5a UTSW 9 38,639,376 (GRCm39) missense probably damaging 1.00
R2278:Vwa5a UTSW 9 38,634,503 (GRCm39) missense probably damaging 1.00
R3912:Vwa5a UTSW 9 38,646,039 (GRCm39) missense probably damaging 0.97
R3913:Vwa5a UTSW 9 38,646,039 (GRCm39) missense probably damaging 0.97
R4244:Vwa5a UTSW 9 38,649,112 (GRCm39) splice site probably benign
R4510:Vwa5a UTSW 9 38,633,853 (GRCm39) missense possibly damaging 0.60
R4511:Vwa5a UTSW 9 38,633,853 (GRCm39) missense possibly damaging 0.60
R4549:Vwa5a UTSW 9 38,649,221 (GRCm39) missense probably benign 0.09
R4591:Vwa5a UTSW 9 38,646,916 (GRCm39) missense possibly damaging 0.94
R4639:Vwa5a UTSW 9 38,638,410 (GRCm39) critical splice donor site probably null
R4811:Vwa5a UTSW 9 38,647,249 (GRCm39) missense probably benign 0.00
R4911:Vwa5a UTSW 9 38,649,268 (GRCm39) missense probably benign 0.03
R4936:Vwa5a UTSW 9 38,647,494 (GRCm39) missense probably benign 0.00
R4989:Vwa5a UTSW 9 38,633,926 (GRCm39) missense probably benign 0.40
R5370:Vwa5a UTSW 9 38,652,512 (GRCm39) missense probably benign 0.02
R5596:Vwa5a UTSW 9 38,633,874 (GRCm39) missense probably damaging 1.00
R5914:Vwa5a UTSW 9 38,653,038 (GRCm39) missense probably benign 0.00
R6207:Vwa5a UTSW 9 38,633,968 (GRCm39) missense probably damaging 1.00
R6486:Vwa5a UTSW 9 38,645,174 (GRCm39) missense probably null 1.00
R7666:Vwa5a UTSW 9 38,645,259 (GRCm39) missense probably benign 0.06
R7683:Vwa5a UTSW 9 38,646,125 (GRCm39) missense probably damaging 1.00
R7763:Vwa5a UTSW 9 38,652,458 (GRCm39) missense possibly damaging 0.93
R7839:Vwa5a UTSW 9 38,634,799 (GRCm39) missense probably damaging 0.98
R7996:Vwa5a UTSW 9 38,639,124 (GRCm39) nonsense probably null
R8024:Vwa5a UTSW 9 38,647,316 (GRCm39) nonsense probably null
R8491:Vwa5a UTSW 9 38,652,476 (GRCm39) missense probably damaging 0.99
R9572:Vwa5a UTSW 9 38,649,239 (GRCm39) missense probably benign 0.10
X0022:Vwa5a UTSW 9 38,647,258 (GRCm39) missense probably damaging 1.00
X0067:Vwa5a UTSW 9 38,634,547 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTGGCCATGTTTGGATAGGCAATC -3'
(R):5'- CTATGGCCATATACTGATCCTAGATAG -3'

Sequencing Primer
(F):5'- GGATAGGCAATCAATTTACCATCC -3'
(R):5'- TACCTGGCTTCATGTCCA -3'
Posted On 2015-06-10