Mutagenetix > Incidental Mutation

Incidental Mutation 'R4529:Prss38'

333043

Institutional Source

Beutler Lab

Gene Symbol

Prss38

Ensembl Gene

ENSMUSG00000049291

Gene Name

serine protease 38

Synonyms

Gm249, LOC216797

MMRRC Submission

041592-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59263495-59266483 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59264325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 214 (Y214C)

Ref Sequence

ENSEMBL: ENSMUSP00000052010 (fasta)

Gene Model

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

AlphaFold

Q3UKY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061481
AA Change: Y214C

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

SMART Domains

Protein: ENSMUSP00000052010
Gene: ENSMUSG00000049291
AA Change: Y214C

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	A	G	17: 57,727,519 (GRCm39)	Y483C	possibly damaging	Het
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Aldh1a3	T	C	7: 66,051,742 (GRCm39)	N404D	probably benign	Het
Ankrd2	A	T	19: 42,032,240 (GRCm39)	I231F	probably benign	Het
Apba1	A	G	19: 23,913,899 (GRCm39)	N641D	probably damaging	Het
C1qbp	T	C	11: 70,869,550 (GRCm39)	T178A	probably benign	Het
Chtf18	T	C	17: 25,939,592 (GRCm39)	Y64C	probably damaging	Het
Cyp1a1	A	G	9: 57,608,962 (GRCm39)	H281R	probably benign	Het
Ehmt2	A	G	17: 35,132,707 (GRCm39)	I1235V	probably damaging	Het
Fcamr	A	G	1: 130,732,313 (GRCm39)	H44R	probably damaging	Het
Gm12185	T	C	11: 48,798,747 (GRCm39)	Y582C	probably damaging	Het
Gm12185	T	C	11: 48,798,921 (GRCm39)	N524S	possibly damaging	Het
Gm5460	A	C	14: 33,767,769 (GRCm39)	D459A	probably damaging	Het
H2-Q6	C	T	17: 35,644,820 (GRCm39)	T203I	probably null	Het
Inmt	T	C	6: 55,148,012 (GRCm39)	M206V	probably benign	Het
Khdc3	T	C	9: 73,011,301 (GRCm39)	S360P	possibly damaging	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Ltbp1	T	G	17: 75,458,355 (GRCm39)	V312G	probably benign	Het
Nlrp9a	T	C	7: 26,270,832 (GRCm39)	L899P	probably damaging	Het
Or6c1b	T	C	10: 129,273,287 (GRCm39)	V202A	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pappa	A	G	4: 65,149,419 (GRCm39)	I920V	probably benign	Het
Parp1	T	A	1: 180,418,877 (GRCm39)	V679E	probably damaging	Het
Pla2g4f	C	T	2: 120,131,100 (GRCm39)	R785Q	probably damaging	Het
Plbd1	T	A	6: 136,628,823 (GRCm39)	I82F	probably benign	Het
Plekhm3	A	G	1: 64,976,984 (GRCm39)	V162A	probably benign	Het
Plin4	A	G	17: 56,411,274 (GRCm39)	L919P	probably damaging	Het
Plxna4	C	T	6: 32,473,831 (GRCm39)		probably null	Het
Pou3f3	C	A	1: 42,737,714 (GRCm39)	T470K	probably benign	Het
Retreg1	T	A	15: 25,968,600 (GRCm39)	Y109N	probably damaging	Het
Slco1c1	A	G	6: 141,500,907 (GRCm39)	Y413C	probably damaging	Het
Stk32a	T	C	18: 43,376,044 (GRCm39)	C38R	possibly damaging	Het
Themis	T	C	10: 28,658,331 (GRCm39)	F453L	possibly damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tubgcp3	G	T	8: 12,713,932 (GRCm39)	L62I	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Xpo7	G	A	14: 70,906,188 (GRCm39)	T986M	probably damaging	Het
Zfp51	C	T	17: 21,684,998 (GRCm39)	L538F	probably damaging	Het
Zfy1	A	G	Y: 726,511 (GRCm39)	L418S	possibly damaging	Het

Other mutations in Prss38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03075:Prss38	APN	11	59,263,881 (GRCm39)	missense	probably damaging	1.00
LCD18:Prss38	UTSW	11	59,266,467 (GRCm39)	utr 5 prime	probably benign
R0001:Prss38	UTSW	11	59,264,006 (GRCm39)	splice site	probably benign
R0097:Prss38	UTSW	11	59,266,434 (GRCm39)	missense	possibly damaging	0.86
R0097:Prss38	UTSW	11	59,266,434 (GRCm39)	missense	possibly damaging	0.86
R0540:Prss38	UTSW	11	59,266,369 (GRCm39)	missense	possibly damaging	0.50
R0607:Prss38	UTSW	11	59,266,369 (GRCm39)	missense	possibly damaging	0.50
R1966:Prss38	UTSW	11	59,264,310 (GRCm39)	missense	probably damaging	1.00
R4394:Prss38	UTSW	11	59,263,854 (GRCm39)	missense	probably damaging	1.00
R4397:Prss38	UTSW	11	59,263,854 (GRCm39)	missense	probably damaging	1.00
R4738:Prss38	UTSW	11	59,263,771 (GRCm39)	missense	probably benign	0.00
R5061:Prss38	UTSW	11	59,265,196 (GRCm39)	missense	probably damaging	0.98
R5219:Prss38	UTSW	11	59,266,309 (GRCm39)	splice site	probably benign
R5306:Prss38	UTSW	11	59,263,821 (GRCm39)	missense	probably benign	0.00
R6894:Prss38	UTSW	11	59,263,850 (GRCm39)	missense	probably benign	0.19
R7286:Prss38	UTSW	11	59,266,384 (GRCm39)	missense	probably benign	0.00
R7860:Prss38	UTSW	11	59,265,996 (GRCm39)	missense	probably damaging	1.00
T0970:Prss38	UTSW	11	59,263,974 (GRCm39)	missense	possibly damaging	0.81
Z1176:Prss38	UTSW	11	59,265,160 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCAGAATGAGCGTCCATC -3'
(R):5'- AAGAATGTCTTTGCCTCCTTGC -3'

Sequencing Primer
(F):5'- TCAGCACTGAGGTCTGATACAAGC -3'
(R):5'- TTGCCTTCCAGGACTAAGAAAG -3'

Posted On

2015-08-18