Mutagenetix > Incidental Mutation

Incidental Mutation 'R4530:Prss43'

333087

Institutional Source

Beutler Lab

Gene Symbol

Prss43

Ensembl Gene

ENSMUSG00000058398

Gene Name

serine protease 43

Synonyms

LOC272643, Tessp3

MMRRC Submission

041770-MU

Accession Numbers

Essential gene?

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

Stock #

R4530 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110655758-110660575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110658572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 291 (M291L)

Ref Sequence

ENSEMBL: ENSMUSP00000076752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077549] [ENSMUST00000141089]

AlphaFold

Q76HL1

Predicted Effect

probably benign
Transcript: ENSMUST00000077549
AA Change: M291L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076752
Gene: ENSMUSG00000058398
AA Change: M291L

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: ENSMUST00000141089

SMART Domains

Protein: ENSMUSP00000117039
Gene: ENSMUSG00000032493

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Trypsin	112	144	1.3e-9	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

93% (37/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	C	14: 56,016,485 (GRCm39)	D322G	probably damaging	Het
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Arhgap42	T	C	9: 9,011,433 (GRCm39)	D451G	probably damaging	Het
Arhgef7	T	C	8: 11,850,802 (GRCm39)	M144T	possibly damaging	Het
Arid4b	C	A	13: 14,301,040 (GRCm39)	T41N	probably damaging	Het
Axin1	T	A	17: 26,407,146 (GRCm39)	Y580N	probably benign	Het
Cdc27	T	C	11: 104,419,252 (GRCm39)	N227D	possibly damaging	Het
Cetn4	C	T	3: 37,364,094 (GRCm39)	V39I	probably benign	Het
Clec2h	A	G	6: 128,639,457 (GRCm39)	D18G	possibly damaging	Het
Clec4e	T	C	6: 123,266,733 (GRCm39)		probably benign	Het
Cntnap4	T	C	8: 113,584,842 (GRCm39)	I1093T	probably benign	Het
Dner	G	T	1: 84,560,736 (GRCm39)	N136K	probably damaging	Het
Gpr158	A	G	2: 21,373,811 (GRCm39)	S249G	probably benign	Het
Il16	A	C	7: 83,330,518 (GRCm39)		probably benign	Het
Intu	T	G	3: 40,637,794 (GRCm39)	C427G	possibly damaging	Het
Kif21a	A	C	15: 90,852,292 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Mroh7	T	C	4: 106,577,634 (GRCm39)	E348G	possibly damaging	Het
Or10g6	G	A	9: 39,934,589 (GRCm39)	R300K	probably benign	Het
Or2h1b	C	T	17: 37,462,498 (GRCm39)	V122M	possibly damaging	Het
Or8g2b	G	T	9: 39,751,379 (GRCm39)	M216I	probably benign	Het
Or8k38	T	C	2: 86,487,905 (GRCm39)	D299G	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Plbd1	T	A	6: 136,628,823 (GRCm39)	I82F	probably benign	Het
Rap1gds1	T	C	3: 138,663,186 (GRCm39)	N338D	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Stip1	G	T	19: 7,013,026 (GRCm39)	N19K	probably benign	Het
Tat	T	A	8: 110,722,842 (GRCm39)	F301L	probably benign	Het
Tmprss11a	C	A	5: 86,576,540 (GRCm39)	V104L	possibly damaging	Het
Ttc3	T	A	16: 94,267,736 (GRCm39)		probably benign	Het
Tubgcp3	G	T	8: 12,713,932 (GRCm39)	L62I	probably damaging	Het
Vcan	A	T	13: 89,852,147 (GRCm39)	F938I	probably damaging	Het
Wrap73	A	G	4: 154,241,164 (GRCm39)		probably benign	Het
Xndc1	C	A	7: 101,727,942 (GRCm39)	N85K	probably benign	Het
Zfp282	C	T	6: 47,867,567 (GRCm39)	P248S	probably benign	Het
Zfp930	C	T	8: 69,681,483 (GRCm39)	Q393*	probably null	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
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
R8257:Prss43	UTSW	9	110,659,880 (GRCm39)	missense	possibly damaging	0.95
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'- TGTATTCACACAGTCCGCGG -3'
(R):5'- CAAGAGTGCAGCCTACACAG -3'

Sequencing Primer
(F):5'- GGAGGGGGTGCAGATCTCTC -3'
(R):5'- TTTAAATCCCAGCACTCGGGAGG -3'

Posted On

2015-08-18