Mutagenetix > Incidental Mutation

Incidental Mutation 'R9405:Prss39'

711446

Institutional Source

Beutler Lab

Gene Symbol

Prss39

Ensembl Gene

ENSMUSG00000026125

Gene Name

serine protease 39

Synonyms

Tesp1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R9405 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

34537493-34542143 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34538344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 70 (G70S)

Ref Sequence

ENSEMBL: ENSMUSP00000027299 (fasta)

Gene Model

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

AlphaFold

O70169

Predicted Effect

probably damaging
Transcript: ENSMUST00000027299
AA Change: G70S

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

SMART Domains

Protein: ENSMUSP00000027299
Gene: ENSMUSG00000026125
AA Change: G70S

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: G70S

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

SMART Domains

Protein: ENSMUSP00000140460
Gene: ENSMUSG00000026125
AA Change: G70S

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: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	A	9: 118,978,506 (GRCm39)	Q277L	probably damaging	Het
Adamts18	A	G	8: 114,430,030 (GRCm39)	V1135A	probably damaging	Het
Apobr	A	G	7: 126,184,704 (GRCm39)	S72G	possibly damaging	Het
Arl13b	T	A	16: 62,632,260 (GRCm39)	Q214L	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Asah2	T	G	19: 31,986,045 (GRCm39)	T542P	possibly damaging	Het
Asns	C	T	6: 7,689,283 (GRCm39)	C73Y	probably damaging	Het
Calhm2	T	A	19: 47,124,108 (GRCm39)	T79S	probably benign	Het
Cd300c2	T	G	11: 114,891,587 (GRCm39)	T96P	probably damaging	Het
Copb1	G	A	7: 113,822,458 (GRCm39)	T757I	possibly damaging	Het
Csmd3	T	A	15: 47,539,187 (GRCm39)	T1517S		Het
Ddx60	T	A	8: 62,425,248 (GRCm39)	L679M	probably benign	Het
Dip2b	A	G	15: 100,093,757 (GRCm39)	K1123R	probably benign	Het
Dnah17	A	G	11: 118,009,737 (GRCm39)	S612P	probably benign	Het
Dnah5	T	A	15: 28,272,306 (GRCm39)	C1037S	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ei24	A	T	9: 36,694,137 (GRCm39)	I244N	possibly damaging	Het
Epb41l4a	C	A	18: 33,943,271 (GRCm39)		probably null	Het
Fam83b	A	G	9: 76,398,703 (GRCm39)	M800T	possibly damaging	Het
Fcf1	T	G	12: 85,021,013 (GRCm39)	C98G	probably benign	Het
H2bc3	T	C	13: 23,931,141 (GRCm39)	Y122H	probably benign	Het
Hltf	G	T	3: 20,137,094 (GRCm39)	Q417H	possibly damaging	Het
Hmg20b	T	C	10: 81,185,258 (GRCm39)	S35G	probably benign	Het
Igkv4-57-1	T	G	6: 69,521,525 (GRCm39)	Y59S	probably damaging	Het
Irs2	C	T	8: 11,055,061 (GRCm39)	V1124I	possibly damaging	Het
Kprp	A	G	3: 92,731,560 (GRCm39)	C497R	unknown	Het
Krt15	A	T	11: 100,022,961 (GRCm39)	V418E	probably benign	Het
Lce1e	G	A	3: 92,615,312 (GRCm39)	P12S	unknown	Het
Lsmem1	T	C	12: 40,227,113 (GRCm39)	D124G	probably damaging	Het
Morc3	T	C	16: 93,642,036 (GRCm39)	F85S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,447 (GRCm39)	V204E	possibly damaging	Het
Myo7b	C	T	18: 32,109,356 (GRCm39)	A1172T	probably benign	Het
Nbeal1	T	A	1: 60,349,424 (GRCm39)	I2362N	probably damaging	Het
Nde1	T	G	16: 14,006,255 (GRCm39)	L261R	probably damaging	Het
Neurl1b	A	G	17: 26,658,265 (GRCm39)	D401G	probably benign	Het
Nfkb2	T	C	19: 46,296,839 (GRCm39)	V303A	probably damaging	Het
Nlrc5	C	T	8: 95,199,652 (GRCm39)	P88S	probably damaging	Het
Or10ad1b	T	A	15: 98,124,912 (GRCm39)	I207F	possibly damaging	Het
Or4k36	T	A	2: 111,146,460 (GRCm39)	I212K	possibly damaging	Het
Or6c203	T	A	10: 129,010,165 (GRCm39)	M242L	probably benign	Het
Pde1c	T	A	6: 56,049,199 (GRCm39)	K705*	probably null	Het
Pear1	A	T	3: 87,659,890 (GRCm39)	F699I	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Prickle1	A	T	15: 93,400,861 (GRCm39)	L541*	probably null	Het
Prune2	T	G	19: 17,193,708 (GRCm39)	N3065K	probably damaging	Het
Qrfprl	T	A	6: 65,433,078 (GRCm39)	N299K	probably benign	Het
Rdh5	A	C	10: 128,753,937 (GRCm39)	D127E	probably benign	Het
Ryr3	G	A	2: 112,664,612 (GRCm39)	H1580Y	probably damaging	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Scgb3a2	T	A	18: 43,900,129 (GRCm39)	L139Q	possibly damaging	Het
Six1	A	G	12: 73,093,095 (GRCm39)	S36P	probably damaging	Het
Slc30a5	T	C	13: 100,950,416 (GRCm39)	I281V	probably benign	Het
Snai2	T	A	16: 14,524,589 (GRCm39)	Y32N	probably benign	Het
Stat2	T	C	10: 128,114,634 (GRCm39)	S244P	probably damaging	Het
Syne1	A	G	10: 5,152,030 (GRCm39)	I5759T	probably damaging	Het
Tbc1d23	T	C	16: 57,012,985 (GRCm39)	N329S	possibly damaging	Het
Tex2	A	T	11: 106,435,214 (GRCm39)	S737R	unknown	Het
Trav13d-3	G	A	14: 53,270,715 (GRCm39)	R59H	probably benign	Het
Tspan9	C	T	6: 127,944,124 (GRCm39)	A59T	probably benign	Het
Usp53	G	A	3: 122,746,918 (GRCm39)	A349V	probably damaging	Het
Vmn1r188	T	C	13: 22,272,898 (GRCm39)	L284P	probably damaging	Het
Vmn2r85	T	C	10: 130,261,215 (GRCm39)	N374S	probably damaging	Het
Zfp622	A	T	15: 25,985,035 (GRCm39)	I134F	probably damaging	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
IGL02224:Prss39	APN	1	34,538,459 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GAGCTTTGGCATTCTACTCCTG -3'
(R):5'- GGCTGCTGTATATCCTTCAAGC -3'

Sequencing Primer
(F):5'- ACTCCTGCCCTTGGGTACG -3'
(R):5'- AGTGACTCTCTCCTGCACC -3'

Posted On

2022-05-16