Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00330:Prss1l'

6364

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss1l

Ensembl Gene

ENSMUSG00000058119

Gene Name

serine protease 1 (trypsin 1) like

Synonyms

Gm5771

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL00330

Quality Score

Status

Chromosome

Chromosomal Location

41369290-41374164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41371707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 51 (L51P)

Ref Sequence

ENSEMBL: ENSMUSP00000039684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049079]

AlphaFold

Q792Y9

Predicted Effect

probably damaging
Transcript: ENSMUST00000049079
AA Change: L51P

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

SMART Domains

Protein: ENSMUSP00000039684
Gene: ENSMUSG00000058119
AA Change: L51P

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Tryp_SPc	22	238	9.72e-105	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	T	G	1: 192,857,087 (GRCm39)	D146E	probably benign	Het
Alpi	A	T	1: 87,027,442 (GRCm39)	L308Q	probably damaging	Het
Bhmt2	A	T	13: 93,803,279 (GRCm39)		probably benign	Het
Bsn	T	C	9: 107,992,539 (GRCm39)	E1071G	probably damaging	Het
Car3	A	T	3: 14,933,439 (GRCm39)	N128Y	probably benign	Het
Cdkl2	C	T	5: 92,165,236 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cul9	T	C	17: 46,821,767 (GRCm39)		probably benign	Het
Gpr149	T	G	3: 62,438,094 (GRCm39)	I688L	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Kif19a	G	A	11: 114,670,411 (GRCm39)	G107D	probably damaging	Het
Loxhd1	A	C	18: 77,483,146 (GRCm39)	R1242S	probably damaging	Het
Ms4a6c	T	C	19: 11,455,676 (GRCm39)	Y162H	probably benign	Het
Msrb2	G	T	2: 19,376,510 (GRCm39)	R6L	unknown	Het
Myh2	A	G	11: 67,084,266 (GRCm39)	N1630D	probably benign	Het
Myrf	A	G	19: 10,201,877 (GRCm39)	V200A	probably benign	Het
Ncor2	A	G	5: 125,119,807 (GRCm39)		probably null	Het
Nrg1	T	A	8: 32,308,117 (GRCm39)	Q621L	probably damaging	Het
Or11h6	G	A	14: 50,880,625 (GRCm39)	A296T	probably benign	Het
Or5bw2	A	T	7: 6,573,667 (GRCm39)	I226F	possibly damaging	Het
Pfkp	A	G	13: 6,669,586 (GRCm39)	F211S	probably damaging	Het
Pramex1	T	C	X: 134,515,258 (GRCm39)	N273S	probably benign	Het
Pwwp3b	A	G	X: 138,136,443 (GRCm39)	D327G	probably damaging	Het
Rnh1	G	A	7: 140,746,644 (GRCm39)	A49V	possibly damaging	Het
Serhl	C	T	15: 82,988,574 (GRCm39)	S167F	probably benign	Het
Skint1	T	C	4: 111,878,777 (GRCm39)		probably null	Het
Taar7b	A	C	10: 23,876,740 (GRCm39)	I302L	probably benign	Het
Tasor2	A	G	13: 3,624,832 (GRCm39)	F1706S	probably benign	Het
Zfp106	G	A	2: 120,369,978 (GRCm39)	P15S	probably benign	Het
Zfp385b	T	C	2: 77,307,122 (GRCm39)	Q167R	probably damaging	Het
Zfp800	T	A	6: 28,243,037 (GRCm39)	T643S	probably benign	Het

Other mutations in Prss1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Prss1l	APN	6	41,373,049 (GRCm39)	missense	probably damaging	1.00
IGL01103:Prss1l	APN	6	41,374,091 (GRCm39)	missense	probably damaging	1.00
IGL01368:Prss1l	APN	6	41,373,620 (GRCm39)	missense	possibly damaging	0.94
IGL01458:Prss1l	APN	6	41,373,621 (GRCm39)	missense	probably benign	0.01
IGL03114:Prss1l	APN	6	41,374,012 (GRCm39)	missense	probably damaging	1.00
R0167:Prss1l	UTSW	6	41,373,195 (GRCm39)	splice site	probably benign
R1548:Prss1l	UTSW	6	41,372,945 (GRCm39)	missense	probably damaging	1.00
R4584:Prss1l	UTSW	6	41,373,701 (GRCm39)	missense	probably benign	0.35
R5622:Prss1l	UTSW	6	41,373,084 (GRCm39)	missense	probably damaging	1.00
R5664:Prss1l	UTSW	6	41,371,605 (GRCm39)	missense	probably benign	0.04
R6222:Prss1l	UTSW	6	41,374,100 (GRCm39)	missense	probably damaging	0.98
R6325:Prss1l	UTSW	6	41,373,590 (GRCm39)	missense	probably benign	0.00
R7816:Prss1l	UTSW	6	41,371,707 (GRCm39)	missense	probably damaging	1.00
R7986:Prss1l	UTSW	6	41,373,058 (GRCm39)	missense	probably damaging	1.00
R8016:Prss1l	UTSW	6	41,374,100 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-04-20