Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Prss46'

19105

Institutional Source

Beutler Lab

Gene Symbol

Prss46

Ensembl Gene

ENSMUSG00000049719

Gene Name

serine protease 46

Synonyms

1700112C13Rik

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R0013 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

110673574-110685586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110679123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 108 (S108I)

Ref Sequence

ENSEMBL: ENSMUSP00000135787 (fasta)

Gene Model

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

AlphaFold

Q5M8S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000119427
AA Change: S105I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112855
Gene: ENSMUSG00000049719
AA Change: S105I

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 damaging
Transcript: ENSMUST00000176403
AA Change: S108I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719
AA Change: S108I

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 79.5%
3x: 71.1%
10x: 47.6%
20x: 27.2%

Validation Efficiency

94% (77/82)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	A	T	18: 80,172,960 (GRCm39)	V483D	probably damaging	Het
Agl	A	T	3: 116,570,257 (GRCm39)	C911*	probably null	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
C2cd3	T	A	7: 100,065,269 (GRCm39)	L685H	probably damaging	Het
Dhx33	A	T	11: 70,884,461 (GRCm39)	F448L	probably damaging	Het
Dnmbp	G	A	19: 43,890,670 (GRCm39)	P366S	probably benign	Het
Elmod1	G	A	9: 53,820,185 (GRCm39)		probably benign	Het
Galnt18	T	C	7: 111,153,664 (GRCm39)	N320S	probably damaging	Het
Glp2r	C	A	11: 67,600,538 (GRCm39)	G437V	possibly damaging	Het
Gm9936	A	G	5: 114,995,408 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Ints11	T	C	4: 155,971,625 (GRCm39)	F315S	probably damaging	Het
Itga11	A	T	9: 62,683,895 (GRCm39)	N1059Y	possibly damaging	Het
Kdm5d	A	T	Y: 941,715 (GRCm39)	K1305N	probably benign	Homo
Mboat7	A	G	7: 3,686,821 (GRCm39)	S340P	probably damaging	Het
Mex3c	G	A	18: 73,723,622 (GRCm39)	A572T	probably benign	Het
Myo9a	A	T	9: 59,767,489 (GRCm39)		probably benign	Het
Myog	T	A	1: 134,217,973 (GRCm39)	H60Q	probably damaging	Het
Pgm5	A	C	19: 24,710,904 (GRCm39)		probably null	Het
Plb1	T	A	5: 32,506,959 (GRCm39)		probably benign	Het
Ppm1e	A	G	11: 87,139,884 (GRCm39)		probably benign	Het
Ptma	C	T	1: 86,457,498 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,041,297 (GRCm39)		probably null	Het
Rrn3	T	A	16: 13,630,977 (GRCm39)	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,239,231 (GRCm39)		probably benign	Het
Sis	A	G	3: 72,817,809 (GRCm39)	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,598,745 (GRCm39)	M1450V	probably benign	Het
Tppp	A	G	13: 74,169,479 (GRCm39)	K73R	possibly damaging	Het
Tut4	T	A	4: 108,388,152 (GRCm39)		probably benign	Het
Uba7	A	T	9: 107,855,448 (GRCm39)	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931 (GRCm39)	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,453,872 (GRCm39)		probably benign	Het
Zfp839	T	A	12: 110,834,820 (GRCm39)	S692T	possibly damaging	Het

Other mutations in Prss46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03324:Prss46	APN	9	110,678,747 (GRCm39)	missense	probably benign	0.01
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
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

2013-03-25