Mutagenetix > Incidental Mutation

Incidental Mutation 'R7894:Prss39'

609483

Institutional Source

Beutler Lab

Gene Symbol

Prss39

Ensembl Gene

ENSMUSG00000026125

Gene Name

protease, serine 39

Synonyms

Tesp1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7894 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34498410-34503063 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34500227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 183 (T183A)

Ref Sequence

ENSEMBL: ENSMUSP00000027299 (fasta)

Gene Model

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

AlphaFold

O70169

Predicted Effect

probably benign
Transcript: ENSMUST00000027299
AA Change: T183A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027299
Gene: ENSMUSG00000026125
AA Change: T183A

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 benign
Transcript: ENSMUST00000191604

SMART Domains

Protein: ENSMUSP00000140460
Gene: ENSMUSG00000026125

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,106,589	M1551T	possibly damaging	Het
Abcc9	A	G	6: 142,594,007	*1547Q	probably null	Het
Adamts20	A	C	15: 94,351,760	C459G	probably damaging	Het
Adamts5	C	T	16: 85,877,920	W452*	probably null	Het
Adcy8	G	T	15: 64,920,205	Q301K	possibly damaging	Het
Adgrv1	A	C	13: 81,567,451	C873G	probably benign	Het
AI314180	T	C	4: 58,853,708	N361S	probably damaging	Het
Ak9	A	G	10: 41,420,539	D1427G	unknown	Het
Amy2a1	T	A	3: 113,530,541	M117L	possibly damaging	Het
Ap5z1	G	T	5: 142,466,284	R23L	probably benign	Het
Ap5z1	C	T	5: 142,470,436	Q337*	probably null	Het
Astn1	C	A	1: 158,601,938	Q759K	probably damaging	Het
Cd276	T	A	9: 58,537,479	T70S	possibly damaging	Het
Cd38	C	T	5: 43,900,404	T106I	probably damaging	Het
Cdon	C	G	9: 35,476,948	R740G	probably damaging	Het
Clk2	C	T	3: 89,168,894	R124W	possibly damaging	Het
Cyp1b1	C	T	17: 79,714,215	V33M	possibly damaging	Het
Dab1	T	A	4: 104,732,138	D547E	probably benign	Het
Degs1	A	T	1: 182,276,851	Y290N	probably damaging	Het
Degs1	G	C	1: 182,276,852	H289Q	probably benign	Het
Dopey2	T	A	16: 93,810,204	C2249S	probably benign	Het
Ehd4	A	C	2: 120,102,428	Y172*	probably null	Het
Erc2	A	G	14: 27,777,208	D347G	probably damaging	Het
Espl1	T	G	15: 102,304,025	V522G	probably damaging	Het
Fabp9	T	A	3: 10,197,167	T10S	probably benign	Het
Fam193a	T	C	5: 34,440,533	I558T	possibly damaging	Het
Fhod1	T	C	8: 105,331,157	E912G	probably damaging	Het
Gja1	T	C	10: 56,388,549	F335L	possibly damaging	Het
Gm14025	A	C	2: 129,037,129	V959G	unknown	Het
Gm29106	A	G	1: 118,199,535	H319R	probably damaging	Het
Hunk	C	T	16: 90,472,465	S299F	probably damaging	Het
Hydin	C	T	8: 110,513,010	T1974M	possibly damaging	Het
Ighv10-1	T	A	12: 114,479,030	T112S	probably damaging	Het
Ireb2	T	A	9: 54,882,336	V98E	probably damaging	Het
Irf4	A	C	13: 30,753,452	H167P	probably benign	Het
Irf6	C	T	1: 193,162,713	P164L	probably benign	Het
Josd1	A	G	15: 79,677,250	I119T	probably damaging	Het
Kcna5	G	T	6: 126,535,048	T39K	probably damaging	Het
Klhl24	A	G	16: 20,123,000	D566G	probably damaging	Het
Kmt2a	T	A	9: 44,849,857	K232*	probably null	Het
Krt36	A	G	11: 100,105,235	L121P	probably damaging	Het
Lama3	A	T	18: 12,462,807	H931L	probably benign	Het
Lamp3	A	T	16: 19,655,391	I411N	probably damaging	Het
Lingo3	C	T	10: 80,834,776	W440*	probably null	Het
Mia2	T	C	12: 59,189,647	Y712H	probably damaging	Het
Mlh1	T	A	9: 111,230,077		probably null	Het
Mta3	T	A	17: 83,762,934	S174T	probably benign	Het
Myo15	A	G	11: 60,491,137	T347A		Het
Naaladl2	C	T	3: 23,846,554	R704H	possibly damaging	Het
Nfib	T	C	4: 82,327,793	N394S	probably benign	Het
Nr2f2	A	G	7: 70,359,933	Y133H	probably damaging	Het
Olfr1220	A	G	2: 89,097,588	V113A	possibly damaging	Het
Olfr1314	A	T	2: 112,092,477	C75S	probably benign	Het
Olfr320	C	T	11: 58,684,674	S267F	possibly damaging	Het
Olfr486	T	A	7: 108,172,184	M187L	probably benign	Het
Olfr94	C	T	17: 37,197,156	E196K	probably damaging	Het
Phgdh	C	A	3: 98,339,808	V9L	probably damaging	Het
Pkd2	T	A	5: 104,480,237	D392E	probably damaging	Het
Plekhm3	A	G	1: 64,921,715	S461P	probably benign	Het
Pter	T	A	2: 12,994,755	I235K	probably damaging	Het
Ptp4a3	T	C	15: 73,756,907	V172A	probably benign	Het
Rasa2	T	C	9: 96,602,727	N145D	probably benign	Het
Rasal2	A	T	1: 157,243,648	H45Q	probably benign	Het
Rbm43	A	G	2: 51,925,897	V104A	probably damaging	Het
Rhbdd2	C	A	5: 135,639,115		probably null	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rimbp2	T	A	5: 128,761,464	N1023I	probably damaging	Het
Rtl1	A	T	12: 109,594,597	D269E	possibly damaging	Het
Sbp	A	G	17: 23,942,189		probably benign	Het
Sorbs1	T	A	19: 40,327,576	T374S	probably benign	Het
Tgs1	A	T	4: 3,598,652	K655I	probably benign	Het
Thsd1	A	C	8: 22,259,569	T819P	probably damaging	Het
Tmprss11c	C	T	5: 86,231,796	V418M	probably damaging	Het
Top2a	A	T	11: 99,009,605	D645E	probably damaging	Het
Top2b	G	A	14: 16,413,081	V997I	possibly damaging	Het
Ttc34	A	G	4: 154,859,383	D118G	probably damaging	Het
Ttll5	A	G	12: 85,889,174	D353G	probably damaging	Het
Uba6	A	T	5: 86,118,065	Y994*	probably null	Het
Vmn1r189	A	T	13: 22,101,736	Y310*	probably null	Het
Vps13c	T	A	9: 67,926,983	I1644N	probably damaging	Het
Zfp811	T	C	17: 32,798,847	D73G	possibly damaging	Het
Zfp951	A	T	5: 104,814,972	C243S	probably benign	Het

Other mutations in Prss39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Prss39	APN	1	34502135	missense	probably benign	0.01
IGL01468:Prss39	APN	1	34499400	splice site	probably benign
IGL01744:Prss39	APN	1	34502199	splice site	probably null
IGL02224:Prss39	APN	1	34499378	missense	probably damaging	1.00
R0128:Prss39	UTSW	1	34502200	unclassified	probably benign
R0130:Prss39	UTSW	1	34502200	unclassified	probably benign
R0269:Prss39	UTSW	1	34500198	missense	probably damaging	0.96
R0617:Prss39	UTSW	1	34500198	missense	probably damaging	0.96
R1078:Prss39	UTSW	1	34502086	missense	probably benign	0.00
R1539:Prss39	UTSW	1	34498535	missense	possibly damaging	0.85
R1796:Prss39	UTSW	1	34500033	missense	possibly damaging	0.70
R4644:Prss39	UTSW	1	34502126	missense	probably damaging	0.96
R5417:Prss39	UTSW	1	34500128	missense	probably benign
R5496:Prss39	UTSW	1	34500261	missense	possibly damaging	0.92
R5511:Prss39	UTSW	1	34502797	missense	possibly damaging	0.65
R5977:Prss39	UTSW	1	34502702	missense	probably damaging	1.00
R6333:Prss39	UTSW	1	34500069	missense	probably benign	0.02
R6833:Prss39	UTSW	1	34498616	missense	possibly damaging	0.84
R6834:Prss39	UTSW	1	34498616	missense	possibly damaging	0.84
R7230:Prss39	UTSW	1	34502147	missense	probably damaging	0.98
R7261:Prss39	UTSW	1	34500288	missense	probably damaging	0.99
R7467:Prss39	UTSW	1	34499392	critical splice donor site	probably null
R7509:Prss39	UTSW	1	34500199	missense	possibly damaging	0.85
R7709:Prss39	UTSW	1	34502628	missense	probably damaging	1.00
R8730:Prss39	UTSW	1	34500117	missense	probably damaging	1.00
R9405:Prss39	UTSW	1	34499263	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCCTGCTAGGGTACAACCAG -3'
(R):5'- TGGAGTCAGAGAGCCTACAC -3'

Sequencing Primer
(F):5'- CTGCTAGGGTACAACCAGCTGAG -3'
(R):5'- CCTACACTTCTAATCTGAAAGGGGG -3'

Posted On

2019-12-20