Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02224:Prss39'

285268

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss39

Ensembl Gene

ENSMUSG00000026125

Gene Name

serine protease 39

Synonyms

Tesp1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL02224

Quality Score

Status

Chromosome

Chromosomal Location

34537493-34542143 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34538459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 108 (H108R)

Ref Sequence

ENSEMBL: ENSMUSP00000140460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027299] [ENSMUST00000191604]

AlphaFold

O70169

Predicted Effect

probably damaging
Transcript: ENSMUST00000027299
AA Change: H108R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027299
Gene: ENSMUSG00000026125
AA Change: H108R

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
Tryp_SPc	67	307	7.97e-60	SMART
low complexity region	348	361	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191604
AA Change: H108R

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

SMART Domains

Protein: ENSMUSP00000140460
Gene: ENSMUSG00000026125
AA Change: H108R

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
Pfam:Trypsin	68	114	1.5e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	A	13: 4,329,289 (GRCm39)	T23S	probably damaging	Het
Alpk3	G	A	7: 80,726,616 (GRCm39)		probably benign	Het
Atp8b3	A	G	10: 80,361,810 (GRCm39)		probably benign	Het
Atr	C	T	9: 95,760,682 (GRCm39)	R1051C	probably damaging	Het
B4galt2	T	C	4: 117,734,110 (GRCm39)	D309G	probably benign	Het
C130026L21Rik	A	G	5: 111,730,291 (GRCm39)		noncoding transcript	Het
Cadm3	A	G	1: 173,165,628 (GRCm39)	I344T	possibly damaging	Het
Cd101	T	C	3: 100,924,318 (GRCm39)	T370A	probably benign	Het
Col6a5	A	T	9: 105,741,534 (GRCm39)	S2462T	probably damaging	Het
Csf3r	A	T	4: 125,937,332 (GRCm39)	N739Y	probably benign	Het
Ensa	T	C	3: 95,535,990 (GRCm39)	S108P	probably benign	Het
Fancd2	T	A	6: 113,545,281 (GRCm39)		probably null	Het
Fbp1	T	A	13: 63,035,821 (GRCm39)	T13S	probably damaging	Het
Flrt2	C	A	12: 95,746,802 (GRCm39)	T380K	possibly damaging	Het
Gpatch11	T	C	17: 79,148,522 (GRCm39)		probably benign	Het
Hagh	A	G	17: 25,071,861 (GRCm39)	D29G	probably damaging	Het
Hmmr	T	C	11: 40,600,831 (GRCm39)	Q513R	unknown	Het
Hoxb8	T	C	11: 96,173,981 (GRCm39)	S65P	probably benign	Het
Il4ra	T	C	7: 125,169,271 (GRCm39)		probably benign	Het
Lbp	A	G	2: 158,148,669 (GRCm39)	N27S	probably damaging	Het
Msh4	G	A	3: 153,595,822 (GRCm39)	T76I	possibly damaging	Het
Nfat5	T	C	8: 108,071,447 (GRCm39)	V281A	probably benign	Het
Or10ag53	C	T	2: 87,082,821 (GRCm39)	S180F	probably benign	Het
Or13c25	A	T	4: 52,911,392 (GRCm39)	V134D	probably damaging	Het
Or4p20	C	T	2: 88,254,052 (GRCm39)		probably null	Het
Or5b106	T	A	19: 13,123,120 (GRCm39)	K301M	probably damaging	Het
Or5w16	T	A	2: 87,576,757 (GRCm39)	C72*	probably null	Het
Phf11b	A	T	14: 59,563,515 (GRCm39)		probably benign	Het
Pik3c2a	A	G	7: 115,962,575 (GRCm39)		probably benign	Het
Prdx1	T	A	4: 116,549,064 (GRCm39)	F66L	probably damaging	Het
Spta1	C	A	1: 174,045,255 (GRCm39)		probably benign	Het
Tmem87b	A	G	2: 128,676,127 (GRCm39)	I297V	possibly damaging	Het
Vmn1r191	T	C	13: 22,363,068 (GRCm39)	R229G	probably damaging	Het
Vmn2r113	A	T	17: 23,174,960 (GRCm39)	R524*	probably null	Het
Washc2	T	A	6: 116,197,530 (GRCm39)	D254E	possibly damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp773	T	C	7: 7,135,975 (GRCm39)	H207R	probably benign	Het

Other mutations in Prss39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Prss39	APN	1	34,541,216 (GRCm39)	missense	probably benign	0.01
IGL01468:Prss39	APN	1	34,538,481 (GRCm39)	splice site	probably benign
IGL01744:Prss39	APN	1	34,541,280 (GRCm39)	splice site	probably null
R0128:Prss39	UTSW	1	34,541,281 (GRCm39)	unclassified	probably benign
R0130:Prss39	UTSW	1	34,541,281 (GRCm39)	unclassified	probably benign
R0269:Prss39	UTSW	1	34,539,279 (GRCm39)	missense	probably damaging	0.96
R0617:Prss39	UTSW	1	34,539,279 (GRCm39)	missense	probably damaging	0.96
R1078:Prss39	UTSW	1	34,541,167 (GRCm39)	missense	probably benign	0.00
R1539:Prss39	UTSW	1	34,537,616 (GRCm39)	missense	possibly damaging	0.85
R1796:Prss39	UTSW	1	34,539,114 (GRCm39)	missense	possibly damaging	0.70
R4644:Prss39	UTSW	1	34,541,207 (GRCm39)	missense	probably damaging	0.96
R5417:Prss39	UTSW	1	34,539,209 (GRCm39)	missense	probably benign
R5496:Prss39	UTSW	1	34,539,342 (GRCm39)	missense	possibly damaging	0.92
R5511:Prss39	UTSW	1	34,541,878 (GRCm39)	missense	possibly damaging	0.65
R5977:Prss39	UTSW	1	34,541,783 (GRCm39)	missense	probably damaging	1.00
R6333:Prss39	UTSW	1	34,539,150 (GRCm39)	missense	probably benign	0.02
R6833:Prss39	UTSW	1	34,537,697 (GRCm39)	missense	possibly damaging	0.84
R6834:Prss39	UTSW	1	34,537,697 (GRCm39)	missense	possibly damaging	0.84
R7230:Prss39	UTSW	1	34,541,228 (GRCm39)	missense	probably damaging	0.98
R7261:Prss39	UTSW	1	34,539,369 (GRCm39)	missense	probably damaging	0.99
R7467:Prss39	UTSW	1	34,538,473 (GRCm39)	critical splice donor site	probably null
R7509:Prss39	UTSW	1	34,539,280 (GRCm39)	missense	possibly damaging	0.85
R7709:Prss39	UTSW	1	34,541,709 (GRCm39)	missense	probably damaging	1.00
R7894:Prss39	UTSW	1	34,539,308 (GRCm39)	missense	probably benign	0.16
R8730:Prss39	UTSW	1	34,539,198 (GRCm39)	missense	probably damaging	1.00
R9405:Prss39	UTSW	1	34,538,344 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16