Mutagenetix > Incidental Mutation

Incidental Mutation 'R8257:Prss43'

640520

Institutional Source

Beutler Lab

Gene Symbol

Prss43

Ensembl Gene

ENSMUSG00000058398

Gene Name

serine protease 43

Synonyms

LOC272643, Tessp3

MMRRC Submission

067683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110655758-110660575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110659880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 315 (S315P)

Ref Sequence

ENSEMBL: ENSMUSP00000076752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011391] [ENSMUST00000077549] [ENSMUST00000146794]

AlphaFold

Q76HL1

Predicted Effect

probably benign
Transcript: ENSMUST00000011391

SMART Domains

Protein: ENSMUSP00000011391
Gene: ENSMUSG00000047257

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Tryp_SPc	44	286	6.39e-50	SMART
low complexity region	302	317	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077549
AA Change: S315P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076752
Gene: ENSMUSG00000058398
AA Change: S315P

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	41	49	N/A	INTRINSIC
Tryp_SPc	115	350	5.86e-58	SMART
transmembrane domain	362	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146794

SMART Domains

Protein: ENSMUSP00000120471
Gene: ENSMUSG00000047257

Domain	Start	End	E-Value	Type
Tryp_SPc	35	277	3.19e-50	SMART
low complexity region	293	308	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,153 (GRCm39)	K1350R	probably benign	Het
4933407L21Rik	T	A	1: 85,859,060 (GRCm39)	C70*	probably null	Het
Akr1c6	G	A	13: 4,488,525 (GRCm39)	V97I	probably benign	Het
Alg9	A	T	9: 50,690,387 (GRCm39)	I130F	possibly damaging	Het
Ankle2	G	T	5: 110,401,781 (GRCm39)		probably null	Het
Ankrd34a	A	T	3: 96,505,045 (GRCm39)	H83L	possibly damaging	Het
Aoc1l2	A	G	6: 48,909,431 (GRCm39)	T559A	probably benign	Het
Ate1	T	C	7: 130,069,037 (GRCm39)	Y367C	probably damaging	Het
Atg9b	C	T	5: 24,591,303 (GRCm39)		probably benign	Het
Atp2c1	A	G	9: 105,308,756 (GRCm39)	S626P	probably benign	Het
Ccdc171	A	G	4: 83,614,606 (GRCm39)	N1069S	probably damaging	Het
Cdh20	A	G	1: 104,921,962 (GRCm39)	D753G	probably benign	Het
Cdk11b	A	G	4: 155,732,398 (GRCm39)	E517G	unknown	Het
Chst5	A	T	8: 112,617,092 (GRCm39)	V176E	probably damaging	Het
Ddx50	T	C	10: 62,452,299 (GRCm39)		probably benign	Het
Dspp	A	G	5: 104,324,867 (GRCm39)	D410G	probably benign	Het
Dync1h1	T	A	12: 110,602,908 (GRCm39)	V2183E	probably damaging	Het
Emilin2	A	G	17: 71,580,995 (GRCm39)	V577A	probably benign	Het
Entpd2	T	A	2: 25,288,133 (GRCm39)	L119Q	probably damaging	Het
Foxa1	A	T	12: 57,589,932 (GRCm39)	M96K	probably benign	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
H2-Aa	T	C	17: 34,502,211 (GRCm39)	T237A	probably damaging	Het
Itih4	G	A	14: 30,609,825 (GRCm39)	V52I	possibly damaging	Het
Kntc1	T	C	5: 123,896,586 (GRCm39)		probably null	Het
Lgi4	A	T	7: 30,766,766 (GRCm39)		probably null	Het
Map4k2	G	A	19: 6,396,030 (GRCm39)	R455H	probably benign	Het
Masp2	A	G	4: 148,687,497 (GRCm39)	T95A	possibly damaging	Het
Mtmr12	T	C	15: 12,259,684 (GRCm39)	I351T	possibly damaging	Het
Ncdn	A	G	4: 126,643,676 (GRCm39)		probably null	Het
Nckipsd	A	G	9: 108,692,127 (GRCm39)	E516G	probably benign	Het
Nlrp12	A	G	7: 3,297,962 (GRCm39)	W70R	probably damaging	Het
Nmral1	T	A	16: 4,534,267 (GRCm39)	D58V	probably damaging	Het
Nr2c1	A	G	10: 94,028,769 (GRCm39)	Y522C	probably damaging	Het
Or14c45	A	G	7: 86,176,678 (GRCm39)	T238A	possibly damaging	Het
Or1e23	A	G	11: 73,407,203 (GRCm39)	M274T	probably benign	Het
Or2d3b	A	G	7: 106,513,926 (GRCm39)	I174V	probably benign	Het
Or2w1b	A	G	13: 21,300,543 (GRCm39)	N227S	probably benign	Het
Pcdhga6	T	A	18: 37,841,868 (GRCm39)	N529K	probably benign	Het
Pkmyt1	C	T	17: 23,953,148 (GRCm39)	R235W	probably benign	Het
Psmd1	T	A	1: 86,006,345 (GRCm39)	V237E	probably damaging	Het
Ptprf	A	G	4: 118,083,476 (GRCm39)	Y844H	probably damaging	Het
Ryr1	C	T	7: 28,764,064 (GRCm39)	V3089I	possibly damaging	Het
Slc1a7	A	G	4: 107,865,394 (GRCm39)	D294G	possibly damaging	Het
Slc5a10	T	A	11: 61,605,873 (GRCm39)	T148S	probably damaging	Het
Spata25	T	C	2: 164,669,690 (GRCm39)	D107G	possibly damaging	Het
Stambpl1	A	G	19: 34,208,901 (GRCm39)	E132G	probably damaging	Het
Tgfb1	A	G	7: 25,396,373 (GRCm39)	H222R	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trmt1l	T	A	1: 151,304,629 (GRCm39)	M1K	probably null	Het
Vmn2r86	A	T	10: 130,288,279 (GRCm39)	H407Q	possibly damaging	Het
Wdr36	T	A	18: 32,974,339 (GRCm39)		probably benign	Het
Zfp35	T	A	18: 24,137,288 (GRCm39)	I544N	possibly damaging	Het

Other mutations in Prss43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Prss43	APN	9	110,658,538 (GRCm39)	missense	probably benign	0.02
IGL01636:Prss43	APN	9	110,656,505 (GRCm39)	missense	possibly damaging	0.75
IGL03046:Prss43	UTSW	9	110,660,049 (GRCm39)	missense	probably benign	0.01
PIT4576001:Prss43	UTSW	9	110,656,955 (GRCm39)	missense	probably damaging	1.00
R0020:Prss43	UTSW	9	110,657,580 (GRCm39)	unclassified	probably benign
R0278:Prss43	UTSW	9	110,656,430 (GRCm39)	missense	probably benign	0.07
R0883:Prss43	UTSW	9	110,658,576 (GRCm39)	missense	probably damaging	1.00
R1384:Prss43	UTSW	9	110,656,510 (GRCm39)	missense	probably benign	0.10
R2212:Prss43	UTSW	9	110,658,532 (GRCm39)	missense	probably damaging	1.00
R3412:Prss43	UTSW	9	110,658,532 (GRCm39)	missense	probably damaging	1.00
R3808:Prss43	UTSW	9	110,656,840 (GRCm39)	missense	probably damaging	1.00
R4202:Prss43	UTSW	9	110,656,529 (GRCm39)	missense	probably benign	0.08
R4530:Prss43	UTSW	9	110,658,572 (GRCm39)	missense	probably benign	0.38
R4752:Prss43	UTSW	9	110,656,836 (GRCm39)	missense	possibly damaging	0.47
R5009:Prss43	UTSW	9	110,656,489 (GRCm39)	missense	possibly damaging	0.50
R6920:Prss43	UTSW	9	110,657,680 (GRCm39)	missense	probably benign	0.04
R7271:Prss43	UTSW	9	110,657,671 (GRCm39)	missense	probably damaging	1.00
R7406:Prss43	UTSW	9	110,657,764 (GRCm39)	missense	probably damaging	1.00
R7758:Prss43	UTSW	9	110,658,459 (GRCm39)	missense	possibly damaging	0.91
R8686:Prss43	UTSW	9	110,658,494 (GRCm39)	missense	possibly damaging	0.92
R8885:Prss43	UTSW	9	110,660,046 (GRCm39)	missense	probably damaging	1.00
R9217:Prss43	UTSW	9	110,656,564 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- AGCACGTATCGTTGCCTAGAG -3'
(R):5'- CCTAAGGAGGTCACAGAGCTAC -3'

Sequencing Primer
(F):5'- CACGTATCGTTGCCTAGAGAATGTTG -3'
(R):5'- TCACAGAGCTACCAGGAGG -3'

Posted On

2020-07-28