Mutagenetix > Incidental Mutation

Incidental Mutation 'R8686:Prss43'

662053

Institutional Source

Beutler Lab

Gene Symbol

Prss43

Ensembl Gene

ENSMUSG00000058398

Gene Name

serine protease 43

Synonyms

LOC272643, Tessp3

MMRRC Submission

068541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110655758-110660575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110658494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 265 (R265C)

Ref Sequence

ENSEMBL: ENSMUSP00000076752 (fasta)

Gene Model

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

AlphaFold

Q76HL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077549
AA Change: R265C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076752
Gene: ENSMUSG00000058398
AA Change: R265C

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,521 (GRCm39)	T596A	probably benign	Het
Adamts6	A	G	13: 104,450,207 (GRCm39)	I303V	probably damaging	Het
Alpl	A	T	4: 137,471,112 (GRCm39)	H341Q	probably damaging	Het
Cachd1	G	A	4: 100,845,325 (GRCm39)	R939H	probably damaging	Het
Cd22	G	A	7: 30,569,494 (GRCm39)	R541C	probably benign	Het
Cenpf	A	T	1: 189,391,801 (GRCm39)	M660K	probably benign	Het
Cmya5	A	T	13: 93,231,888 (GRCm39)	S1067T	possibly damaging	Het
Col5a2	C	T	1: 45,461,147 (GRCm39)	G250D	probably damaging	Het
Cylc2	C	T	4: 51,229,651 (GRCm39)	T331M	unknown	Het
Dgka	A	G	10: 128,568,962 (GRCm39)	M201T	probably benign	Het
Dnajc13	T	C	9: 104,048,004 (GRCm39)	I1804V	probably benign	Het
Dym	T	A	18: 75,419,754 (GRCm39)	Y642N	probably damaging	Het
Efr3b	A	T	12: 4,050,886 (GRCm39)	D26E	probably damaging	Het
Emilin1	A	T	5: 31,075,040 (GRCm39)	K427M	possibly damaging	Het
Fam187b	T	C	7: 30,676,659 (GRCm39)	L56S	probably benign	Het
Fbh1	C	T	2: 11,760,469 (GRCm39)	V694I	probably benign	Het
Fgd2	C	T	17: 29,597,997 (GRCm39)	T644I	probably benign	Het
G6pc1	T	G	11: 101,265,533 (GRCm39)		probably null	Het
Gli2	A	G	1: 118,764,417 (GRCm39)	S1245P	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Ighv1-84	T	C	12: 115,944,524 (GRCm39)	D50G	probably benign	Het
Impdh1	C	A	6: 29,216,214 (GRCm39)		probably benign	Het
Inhca	C	T	9: 103,136,627 (GRCm39)	A525T	probably benign	Het
Irf4	A	T	13: 30,945,433 (GRCm39)	D393V	possibly damaging	Het
Kalrn	A	G	16: 34,181,305 (GRCm39)	L111P	probably damaging	Het
Lrch3	T	C	16: 32,802,223 (GRCm39)	V58A	possibly damaging	Het
Lrif1	C	T	3: 106,640,097 (GRCm39)	T394I	probably damaging	Het
Map4k1	A	G	7: 28,693,498 (GRCm39)	T434A	probably benign	Het
Mcur1	G	A	13: 43,695,193 (GRCm39)	T327M	probably damaging	Het
Myo9b	G	T	8: 71,786,966 (GRCm39)	S716I	probably benign	Het
Nol10	T	A	12: 17,419,772 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,573,841 (GRCm39)	T202A	possibly damaging	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Or14j7	T	C	17: 38,235,168 (GRCm39)	V237A	probably benign	Het
Or2d4	A	C	7: 106,543,905 (GRCm39)	M101R	probably benign	Het
Parp12	A	T	6: 39,094,856 (GRCm39)	S80T	probably benign	Het
Pde1a	C	T	2: 79,758,086 (GRCm39)	V50I	probably benign	Het
Pfkl	A	T	10: 77,833,356 (GRCm39)		probably null	Het
Phkg1	A	T	5: 129,895,056 (GRCm39)	Y207N	probably damaging	Het
Pik3r4	A	G	9: 105,535,728 (GRCm39)	T640A	possibly damaging	Het
Pip5k1c	C	A	10: 81,147,827 (GRCm39)	H411N	probably damaging	Het
Pla2g4e	A	G	2: 120,075,172 (GRCm39)	S73P	probably damaging	Het
Polr2b	T	C	5: 77,483,510 (GRCm39)	V662A	probably damaging	Het
Rap1b	A	T	10: 117,658,746 (GRCm39)	V29D	probably damaging	Het
Rraga	A	G	4: 86,495,048 (GRCm39)	E298G	probably damaging	Het
Rrp8	A	T	7: 105,382,781 (GRCm39)	I418N	probably damaging	Het
Siglecf	T	C	7: 43,005,030 (GRCm39)	V420A	probably benign	Het
Snx14	T	A	9: 88,297,746 (GRCm39)	N174I	probably damaging	Het
Speer4e1	T	C	5: 14,984,129 (GRCm39)	N229S	probably benign	Het
Spopfm2	T	C	3: 94,083,427 (GRCm39)	D128G	probably benign	Het
Teddm3	A	G	16: 20,971,685 (GRCm39)	*295Q	probably null	Het
Tfap2c	A	G	2: 172,393,926 (GRCm39)	D245G	possibly damaging	Het
Tfap2d	A	G	1: 19,178,508 (GRCm39)	N191S	probably benign	Het
Tmt1b	A	T	10: 128,796,476 (GRCm39)	M111K	possibly damaging	Het
Unc80	A	G	1: 66,651,427 (GRCm39)	R1591G	possibly damaging	Het
Vmn1r116	T	C	7: 20,606,616 (GRCm39)	W146R	probably damaging	Het
Vps13b	C	G	15: 35,925,535 (GRCm39)	S3823R	probably damaging	Het
Wiz	T	A	17: 32,586,821 (GRCm39)	D163V	probably damaging	Het
Xylt1	G	C	7: 116,980,594 (GRCm39)	A61P	unknown	Het
Zfp521	A	C	18: 13,978,701 (GRCm39)	F571V	probably damaging	Het
Zfp664	T	A	5: 124,963,133 (GRCm39)	C176S	possibly damaging	Het
Zfyve26	T	C	12: 79,334,227 (GRCm39)	N264D	probably benign	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
R8257:Prss43	UTSW	9	110,659,880 (GRCm39)	missense	possibly damaging	0.95
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'- TGTCATTTTCCAGCTGGCAAG -3'
(R):5'- AGGTGGCAGATAACTCAAACC -3'

Sequencing Primer
(F):5'- CCAGCTGGCAAGACTTTTTC -3'
(R):5'- CCGCAGATCATCCCTTTA -3'

Posted On

2021-03-08