Mutagenetix > Incidental Mutations

Incidental Mutation 'T0970:Prss38'

67265

Institutional Source

Beutler Lab

Gene Symbol

Prss38

Ensembl Gene

ENSMUSG00000049291

Gene Name

protease, serine 38

Synonyms

Gm249, LOC216797

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

T0970 (G3) of strain 713

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59372669-59375657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59373148 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 246 (V246A)

Ref Sequence

ENSEMBL: ENSMUSP00000052010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061481]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061481
AA Change: V246A

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052010
Gene: ENSMUSG00000049291
AA Change: V246A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Tryp_SPc	55	284	7.08e-75	SMART
low complexity region	288	305	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133698

Meta Mutation Damage Score

0.2990

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (25/25)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	T	10: 88,981,190	L591*	probably null	Het
Aqp4	A	G	18: 15,399,883	L51P	probably damaging	Het
Cemip	A	T	7: 83,983,146	C403S	probably damaging	Het
Cfap74	G	T	4: 155,463,117		probably null	Het
Glis3	G	A	19: 28,530,932	R551W	probably damaging	Het
Gm11232	T	A	4: 71,756,503	Y254F	possibly damaging	Het
Gm11492	A	T	11: 87,567,732	T311S	probably damaging	Het
Map3k14	G	T	11: 103,224,298	C837*	probably null	Het
Mrc2	A	C	11: 105,347,627	E1200A	probably benign	Het
Nfix	T	C	8: 84,726,483	N314S	possibly damaging	Het
Nphp4	T	C	4: 152,556,379	S1068P	probably damaging	Het
Nup98	A	C	7: 102,186,752		probably benign	Het
Olfr1340	A	G	4: 118,726,267	R7G	probably benign	Het
Pcdhac2	T	C	18: 37,145,335	V456A	possibly damaging	Het
Pcdhb1	G	T	18: 37,265,973	G326C	probably damaging	Het
Rnf26	C	G	9: 44,112,072	R172P	probably damaging	Het
Serinc3	TATCATC	TATC	2: 163,627,915		probably benign	Het
Spire1	C	A	18: 67,501,063		probably null	Het
Tex2	T	A	11: 106,546,946	I633F	unknown	Het
Tle2	A	G	10: 81,580,285	D108G	possibly damaging	Het
Txnrd2	T	C	16: 18,441,773	V185A	probably damaging	Het
Unc45b	C	A	11: 82,922,888	H374N	probably benign	Het
Wtap	T	C	17: 12,969,390		probably benign	Het

Other mutations in Prss38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03075:Prss38	APN	11	59373055	missense	probably damaging	1.00
LCD18:Prss38	UTSW	11	59375641	utr 5 prime	probably benign
R0001:Prss38	UTSW	11	59373180	splice site	probably benign
R0097:Prss38	UTSW	11	59375608	missense	possibly damaging	0.86
R0097:Prss38	UTSW	11	59375608	missense	possibly damaging	0.86
R0540:Prss38	UTSW	11	59375543	missense	possibly damaging	0.50
R0607:Prss38	UTSW	11	59375543	missense	possibly damaging	0.50
R1966:Prss38	UTSW	11	59373484	missense	probably damaging	1.00
R4394:Prss38	UTSW	11	59373028	missense	probably damaging	1.00
R4397:Prss38	UTSW	11	59373028	missense	probably damaging	1.00
R4529:Prss38	UTSW	11	59373499	missense	probably damaging	1.00
R4738:Prss38	UTSW	11	59372945	missense	probably benign	0.00
R5061:Prss38	UTSW	11	59374370	missense	probably damaging	0.98
R5219:Prss38	UTSW	11	59375483	splice site	probably benign
R5306:Prss38	UTSW	11	59372995	missense	probably benign	0.00
R6894:Prss38	UTSW	11	59373024	missense	probably benign	0.19
R7286:Prss38	UTSW	11	59375558	missense	probably benign	0.00
R7860:Prss38	UTSW	11	59375170	missense	probably damaging	1.00
R7943:Prss38	UTSW	11	59375170	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCAGCAGGTGCCCCATTATG -3'
(R):5'- TGGAAGCCCAGTTGCCACTAATC -3'

Sequencing Primer
(F):5'- AGGTGCCCCATTATGGTCAC -3'
(R):5'- GGGCATACCTGGTCTAGTAGATCA -3'

Posted On

2013-09-03