Mutagenetix > Incidental Mutation

Incidental Mutation 'R4397:Prss38'

325547

Institutional Source

Beutler Lab

Gene Symbol

Prss38

Ensembl Gene

ENSMUSG00000049291

Gene Name

protease, serine 38

Synonyms

Gm249, LOC216797

MMRRC Submission

041685-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59372669-59375657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59373028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 286 (Y286C)

Ref Sequence

ENSEMBL: ENSMUSP00000052010 (fasta)

Gene Model

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

AlphaFold

Q3UKY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061481
AA Change: Y286C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052010
Gene: ENSMUSG00000049291
AA Change: Y286C

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	T	G	X: 56,932,343	L2193V	probably damaging	Het
Agap2	G	A	10: 127,090,483	A866T	unknown	Het
Aig1	A	C	10: 13,652,982	S237A	probably benign	Het
Baz1b	C	T	5: 135,244,446	R1475W	probably damaging	Het
Bmp1	C	T	14: 70,490,542		probably null	Het
Crybg3	A	G	16: 59,560,095		probably benign	Het
Dnajc15	T	C	14: 77,874,794		probably null	Het
Fam135b	T	A	15: 71,448,676	H1334L	probably benign	Het
Fancg	A	T	4: 43,008,897	H113Q	probably benign	Het
Gfap	G	A	11: 102,896,984	A45V	probably benign	Het
Gjd3	A	T	11: 98,982,421	L199Q	probably damaging	Het
Gm8979	A	G	7: 106,082,923		noncoding transcript	Het
H13	A	G	2: 152,677,552	D65G	probably damaging	Het
Hcls1	T	C	16: 36,937,300	V5A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Iqgap3	T	C	3: 88,104,358	Y817H	probably damaging	Het
Iqsec2	C	T	X: 152,209,053	T562I	probably damaging	Het
Klb	A	G	5: 65,380,039	Y904C	probably damaging	Het
Kremen1	A	T	11: 5,199,610	S354T	probably benign	Het
Lamc3	A	G	2: 31,931,952	E1304G	probably benign	Het
Lrp4	T	C	2: 91,511,670	V1876A	probably benign	Het
Magi3	T	C	3: 104,219,714	T85A	probably damaging	Het
Map3k12	C	T	15: 102,501,259	A694T	probably benign	Het
Mex3b	T	C	7: 82,869,823	S449P	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nars2	T	C	7: 96,973,564		probably null	Het
Nlrp1a	T	G	11: 71,097,204	M1046L	probably benign	Het
Nphs1	T	G	7: 30,481,965		probably null	Het
Nup133	G	A	8: 123,944,301	T119M	probably benign	Het
Olfr770	G	T	10: 129,133,581	N62K	possibly damaging	Het
Pcdhga9	A	T	18: 37,738,641	I508F	probably damaging	Het
Phactr3	A	G	2: 178,175,406		probably benign	Het
Plcb3	T	C	19: 6,965,825	K155E	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Psg16	T	C	7: 17,090,698	S45P	possibly damaging	Het
Ptpn21	G	T	12: 98,688,248	P820Q	probably damaging	Het
Ptpn21	A	G	12: 98,715,060	V105A	probably damaging	Het
Rnf7	A	G	9: 96,478,410	M58T	probably benign	Het
Slc25a11	G	A	11: 70,644,851	A287V	probably benign	Het
Slit2	G	T	5: 48,220,081		probably null	Het
Suco	A	G	1: 161,844,852	Y460H	probably damaging	Het
Tnxb	C	T	17: 34,678,662	Q804*	probably null	Het
Trpv6	A	G	6: 41,625,238	I379T	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Virma	A	G	4: 11,513,901	E585G	possibly damaging	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Vmn2r88	A	T	14: 51,417,978	D549V	probably damaging	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
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
T0970:Prss38	UTSW	11	59373148	missense	possibly damaging	0.81
Z1176:Prss38	UTSW	11	59374334	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGTGTCCTGACTTCATGGAAC -3'
(R):5'- GGGCATACCTGGTCTAGTAGATC -3'

Sequencing Primer
(F):5'- TGCGTGGAAGCAGGATTTGAG -3'
(R):5'- CCTGGTCTAGTAGATCACAGAAAGC -3'

Posted On

2015-07-06