Mutagenetix > Incidental Mutation

Incidental Mutation 'R4549:Vwa5a'

333897

Institutional Source

Beutler Lab

Gene Symbol

Vwa5a

Ensembl Gene

ENSMUSG00000023186

Gene Name

von Willebrand factor A domain containing 5A

Synonyms

5830475I06Rik, Loh11cr2a, BCSC-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4549 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38629564-38654633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38649221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 656 (K656N)

Ref Sequence

ENSEMBL: ENSMUSP00000113596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001544] [ENSMUST00000118144]

AlphaFold

Q99KC8

Predicted Effect

probably benign
Transcript: ENSMUST00000001544
AA Change: K656N

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: K656N

Domain	Start	End	E-Value	Type
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: ENSMUST00000118144
AA Change: K656N

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: K656N

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000130295

Predicted Effect

unknown
Transcript: ENSMUST00000137972
AA Change: K36N

SMART Domains

Protein: ENSMUSP00000121104
Gene: ENSMUSG00000023186
AA Change: K36N

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	45	59	N/A	INTRINSIC
Blast:VWA	62	94	2e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152295

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	G	A	9: 59,217,511 (GRCm39)	V175I	probably damaging	Het
Aldh7a1	A	G	18: 56,665,066 (GRCm39)	V371A	probably benign	Het
Ankrd60	T	A	2: 173,414,395 (GRCm39)	T125S	possibly damaging	Het
Ap1m1	T	A	8: 72,994,064 (GRCm39)	Y7N	probably damaging	Het
Carmil3	G	A	14: 55,743,121 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,819,972 (GRCm39)	L5235H	probably damaging	Het
Galnt17	A	G	5: 131,179,775 (GRCm39)	L124P	probably damaging	Het
Gnpda2	T	A	5: 69,743,872 (GRCm39)	E54D	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Ly6f	T	A	15: 75,143,579 (GRCm39)	N95K	probably benign	Het
Macf1	T	C	4: 123,367,486 (GRCm39)	D2425G	possibly damaging	Het
Prkdc	G	A	16: 15,554,734 (GRCm39)	E2152K	possibly damaging	Het
Serpinb6e	T	A	13: 34,017,214 (GRCm39)	T269S	possibly damaging	Het
Smg1	A	G	7: 117,758,906 (GRCm39)		probably benign	Het
Snapc1	C	A	12: 74,017,053 (GRCm39)	D9E	probably damaging	Het
Syt8	G	T	7: 141,993,199 (GRCm39)	V35L	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc10	T	C	10: 78,067,292 (GRCm39)	R49G	probably damaging	Het
Vmn1r81	A	T	7: 11,993,749 (GRCm39)	F286L	probably damaging	Het
Zfp438	A	G	18: 5,214,073 (GRCm39)	V295A	probably benign	Het

Other mutations in Vwa5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R4172:Vwa5a	UTSW	9	38,635,166 (GRCm39)	missense	probably damaging	0.98
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
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'- GGATGTTGCAGCCTTCACTG -3'
(R):5'- CTCATTTAGGTCACCCCAAGGAAG -3'

Sequencing Primer
(F):5'- GATGTTGCAGCCTTCACTGTTCTC -3'
(R):5'- TCACCCCAAGGAAGAAGAAGCTTG -3'

Posted On

2015-08-18