Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01103:Prss1l'

51316

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: 0.098) question?

Stock #

IGL01103

Quality Score

Status

Chromosome

Chromosomal Location

41369290-41374164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41374091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 231 (V231D)

Ref Sequence

ENSEMBL: ENSMUSP00000039684 (fasta)

Gene Model

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

AlphaFold

Q792Y9

Predicted Effect

probably damaging
Transcript: ENSMUST00000049079
AA Change: V231D

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

SMART Domains

Protein: ENSMUSP00000039684
Gene: ENSMUSG00000058119
AA Change: V231D

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calhm6	A	T	10: 34,002,361 (GRCm39)	C241S	probably benign	Het
Cdh3	A	G	8: 107,281,937 (GRCm39)	Y775C	probably damaging	Het
Clip2	A	G	5: 134,521,204 (GRCm39)	S980P	possibly damaging	Het
Ddx51	C	T	5: 110,803,729 (GRCm39)	A375V	probably benign	Het
Eif4e	A	G	3: 138,253,412 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,495,577 (GRCm39)	D588G	probably benign	Het
Fer1l4	C	T	2: 155,886,361 (GRCm39)		probably null	Het
Fli1	T	C	9: 32,335,236 (GRCm39)	N399D	probably benign	Het
Gm20422	T	C	8: 70,195,776 (GRCm39)	T168A	possibly damaging	Het
Kcnk12	C	T	17: 88,054,195 (GRCm39)	G156R	probably damaging	Het
Kntc1	T	A	5: 123,902,283 (GRCm39)	S309T	probably damaging	Het
Lcp1	T	A	14: 75,464,533 (GRCm39)		probably null	Het
Neo1	A	G	9: 58,788,082 (GRCm39)	C1324R	possibly damaging	Het
Nin	G	A	12: 70,103,532 (GRCm39)	T236I	probably damaging	Het
Npy6r	A	G	18: 44,408,585 (GRCm39)	E2G	probably benign	Het
Numa1	T	C	7: 101,650,778 (GRCm39)	V136A	probably benign	Het
Pcdhb8	A	G	18: 37,490,253 (GRCm39)	K644E	probably damaging	Het
Polr3h	T	A	15: 81,806,697 (GRCm39)	N41Y	probably damaging	Het
Prrx1	T	C	1: 163,089,531 (GRCm39)	T99A	probably damaging	Het
Rbm18	G	A	2: 36,024,184 (GRCm39)	R26*	probably null	Het
Repin1	G	T	6: 48,574,887 (GRCm39)		probably benign	Het
Rnase1	T	C	14: 51,383,079 (GRCm39)	N92D	probably benign	Het
Sidt1	A	T	16: 44,063,906 (GRCm39)	C782*	probably null	Het
Slc27a6	T	A	18: 58,689,836 (GRCm39)	S101T	probably benign	Het
Stard9	A	G	2: 120,532,328 (GRCm39)	N2862D	possibly damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tril	A	G	6: 53,796,023 (GRCm39)	Y400H	probably damaging	Het
Trim34b	T	C	7: 103,979,106 (GRCm39)	C118R	probably damaging	Het
Vwa7	T	C	17: 35,243,918 (GRCm39)	V784A	probably damaging	Het

Other mutations in Prss1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Prss1l	APN	6	41,371,707 (GRCm39)	missense	probably damaging	1.00
IGL00586:Prss1l	APN	6	41,373,049 (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

2013-06-21