Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03324:Prss46'

416592

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss46

Ensembl Gene

ENSMUSG00000049719

Gene Name

serine protease 46

Synonyms

1700112C13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03324

Quality Score

Status

Chromosome

Chromosomal Location

110673574-110685586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110678747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 46 (N46K)

Ref Sequence

ENSEMBL: ENSMUSP00000135787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119427] [ENSMUST00000176403]

AlphaFold

Q5M8S2

Predicted Effect

probably benign
Transcript: ENSMUST00000119427
AA Change: N43K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112855
Gene: ENSMUSG00000049719
AA Change: N43K

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	40	273	1.62e-60	SMART
transmembrane domain	288	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176403
AA Change: N46K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719
AA Change: N46K

Domain	Start	End	E-Value	Type
Tryp_SPc	43	276	1.62e-60	SMART
transmembrane domain	291	313	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,982,261 (GRCm39)	E282G	probably benign	Het
Abca12	T	A	1: 71,353,167 (GRCm39)	K758N	probably benign	Het
Acacb	A	T	5: 114,363,915 (GRCm39)	R1459*	probably null	Het
Aco1	A	G	4: 40,186,363 (GRCm39)	T592A	probably benign	Het
Aldh2	C	T	5: 121,713,188 (GRCm39)	G256D	probably benign	Het
Apbb2	A	T	5: 66,469,500 (GRCm39)		probably null	Het
Apoe	A	T	7: 19,430,462 (GRCm39)	I260K	probably benign	Het
Cep89	G	A	7: 35,124,078 (GRCm39)		probably benign	Het
Coq3	A	G	4: 21,900,361 (GRCm39)	D196G	probably benign	Het
Crispld2	C	T	8: 120,742,110 (GRCm39)	R153W	probably damaging	Het
Enox1	A	G	14: 77,852,925 (GRCm39)	E397G	probably damaging	Het
Gpatch1	A	G	7: 34,998,705 (GRCm39)	Y342H	probably damaging	Het
Gpatch1	T	A	7: 34,993,120 (GRCm39)	E575V	possibly damaging	Het
Grid2	T	C	6: 64,406,806 (GRCm39)	V722A	possibly damaging	Het
Hsh2d	T	C	8: 72,947,356 (GRCm39)	F18L	probably damaging	Het
Htra2	C	T	6: 83,030,737 (GRCm39)	D190N	probably damaging	Het
Lrfn2	A	G	17: 49,377,915 (GRCm39)	N332S	probably damaging	Het
Naa10	C	T	X: 72,963,568 (GRCm39)		probably null	Het
Nlrp4f	T	C	13: 65,343,042 (GRCm39)	E179G	possibly damaging	Het
Or13p10	T	A	4: 118,523,069 (GRCm39)	F118L	probably benign	Het
Or14j1	G	A	17: 38,146,165 (GRCm39)	G92S	probably benign	Het
Or4c111	A	T	2: 88,843,903 (GRCm39)	C168*	probably null	Het
Rep15	A	C	6: 146,934,163 (GRCm39)	M1L	possibly damaging	Het
Slc10a4	G	T	5: 73,169,286 (GRCm39)	A105S	probably damaging	Het
Slc26a9	A	T	1: 131,691,748 (GRCm39)	T664S	probably damaging	Het
Stxbp3-ps	A	T	19: 9,535,714 (GRCm39)		noncoding transcript	Het
Tmf1	C	A	6: 97,140,614 (GRCm39)	R754L	probably damaging	Het
Xcr1	T	A	9: 123,685,549 (GRCm39)	Y71F	probably benign	Het
Yars1	C	T	4: 129,104,328 (GRCm39)	T324I	probably benign	Het
Zfp106	A	G	2: 120,365,868 (GRCm39)	S180P	probably benign	Het

Other mutations in Prss46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4508001:Prss46	UTSW	9	110,680,484 (GRCm39)	missense	probably damaging	0.99
PIT4677001:Prss46	UTSW	9	110,685,098 (GRCm39)	missense	probably benign	0.00
R0013:Prss46	UTSW	9	110,679,123 (GRCm39)	missense	probably damaging	0.96
R0013:Prss46	UTSW	9	110,679,123 (GRCm39)	missense	probably damaging	0.96
R0827:Prss46	UTSW	9	110,680,500 (GRCm39)	missense	probably benign	0.21
R1521:Prss46	UTSW	9	110,678,703 (GRCm39)	missense	probably benign	0.00
R1532:Prss46	UTSW	9	110,679,236 (GRCm39)	missense	probably benign	0.00
R4888:Prss46	UTSW	9	110,673,618 (GRCm39)	start codon destroyed	possibly damaging	0.75
R5201:Prss46	UTSW	9	110,680,543 (GRCm39)	nonsense	probably null
R5246:Prss46	UTSW	9	110,679,102 (GRCm39)	missense	probably damaging	1.00
R7196:Prss46	UTSW	9	110,680,533 (GRCm39)	missense	probably benign	0.38
R7446:Prss46	UTSW	9	110,679,189 (GRCm39)	missense	probably damaging	1.00
R7699:Prss46	UTSW	9	110,678,622 (GRCm39)	missense	probably benign	0.00
R7704:Prss46	UTSW	9	110,679,065 (GRCm39)	missense	probably damaging	1.00
R7938:Prss46	UTSW	9	110,680,500 (GRCm39)	missense	probably benign	0.21
R8005:Prss46	UTSW	9	110,685,144 (GRCm39)	missense	probably benign

Posted On

2016-08-02