Mutagenetix > Incidental Mutations

Incidental Mutation 'R1078:Prss39'

85712

Institutional Source

Beutler Lab

Gene Symbol

Prss39

Ensembl Gene

ENSMUSG00000026125

Gene Name

protease, serine 39

Synonyms

Tesp1

MMRRC Submission

039164-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34498410-34503063 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34502086 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 224 (E224K)

Ref Sequence

ENSEMBL: ENSMUSP00000027299 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027299
AA Change: E224K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027299
Gene: ENSMUSG00000026125
AA Change: E224K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	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
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
R7894:Prss39	UTSW	1	34500227	missense	probably benign	0.16
R8730:Prss39	UTSW	1	34500117	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTTGAAAGCTGAGCCCCTTCC -3'
(R):5'- ATGCTATTAGACCCACCACCTGCG -3'

Sequencing Primer
(F):5'- AGGGAATAGTCTCAGTCCCCTTG -3'
(R):5'- ACACGAGCAGCCTAGTGG -3'

Posted On

2013-11-18