Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00537:Wfdc12'

14861

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wfdc12

Ensembl Gene

ENSMUSG00000042845

Gene Name

WAP four-disulfide core domain 12

Synonyms

Swam2, WAP2

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00537

Quality Score

Status

Chromosome

Chromosomal Location

164031151-164032528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 164032387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 18 (L18Q)

Ref Sequence

ENSEMBL: ENSMUSP00000050836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051272]

AlphaFold

Q9JHY3

Predicted Effect

probably null
Transcript: ENSMUST00000051272
AA Change: L18Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050836
Gene: ENSMUSG00000042845
AA Change: L18Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
WAP	29	72	4.11e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143202

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcap29	C	A	12: 31,667,095 (GRCm39)	E189*	probably null	Het
Chd5	T	C	4: 152,445,059 (GRCm39)	Y347H	probably damaging	Het
Cyp2c55	T	A	19: 39,000,150 (GRCm39)	N116K	possibly damaging	Het
Dnah5	T	C	15: 28,458,848 (GRCm39)		probably null	Het
Erlec1	C	A	11: 30,889,591 (GRCm39)	V185L	probably benign	Het
Glb1l3	T	A	9: 26,740,346 (GRCm39)	Y328F	probably damaging	Het
Gnao1	G	A	8: 94,538,308 (GRCm39)	V50M	probably damaging	Het
Mcpt4	T	C	14: 56,298,487 (GRCm39)	T83A	probably benign	Het
Mefv	T	C	16: 3,528,824 (GRCm39)	Y539C	probably benign	Het
Pkhd1l1	A	T	15: 44,455,388 (GRCm39)	I4050F	possibly damaging	Het
Pkhd1l1	C	T	15: 44,363,443 (GRCm39)	T621M	probably benign	Het
Ptprq	A	G	10: 107,546,383 (GRCm39)	S304P	probably benign	Het
Rptor	C	T	11: 119,690,271 (GRCm39)	P372L	possibly damaging	Het
Soat1	A	T	1: 156,294,300 (GRCm39)	N13K	probably benign	Het
Sspo	G	A	6: 48,475,147 (GRCm39)		probably benign	Het
Vps13a	T	A	19: 16,657,409 (GRCm39)	T1787S	probably benign	Het
Zfp955b	T	C	17: 33,521,847 (GRCm39)	F439L	probably damaging	Het
Zmym4	G	A	4: 126,783,851 (GRCm39)	S1125L	probably benign	Het

Other mutations in Wfdc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Wfdc12	APN	2	164,032,170 (GRCm39)	missense	probably damaging	1.00
IGL01408:Wfdc12	APN	2	164,031,581 (GRCm39)	makesense	probably null
R2357:Wfdc12	UTSW	2	164,032,170 (GRCm39)	missense	probably damaging	1.00
R9166:Wfdc12	UTSW	2	164,032,193 (GRCm39)	nonsense	probably null

Posted On

2012-12-06