Mutagenetix > Incidental Mutations

Incidental Mutation 'R3412:Prss43'

267774

Institutional Source

Beutler Lab

Gene Symbol

Prss43

Ensembl Gene

ENSMUSG00000058398

Gene Name

protease, serine 43

Synonyms

LOC272643, Tessp3

MMRRC Submission

040630-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R3412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110826690-110831839 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 110829464 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 277 (Q277H)

Ref Sequence

ENSEMBL: ENSMUSP00000076752 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077549
AA Change: Q277H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076752
Gene: ENSMUSG00000058398
AA Change: Q277H

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Arhgef5	A	G	6: 43,273,790	I492V	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Ccdc162	T	C	10: 41,539,549		probably benign	Het
Diexf	A	C	1: 193,128,502	S64R	possibly damaging	Het
Esp24	T	A	17: 39,038,316	I11N	possibly damaging	Het
Exoc4	A	G	6: 33,265,975	E41G	probably damaging	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Gm4981	G	A	10: 58,236,353	T13I	possibly damaging	Het
Gria4	T	A	9: 4,513,278	D277V	probably benign	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Inpp5d	C	A	1: 87,668,057	T175N	possibly damaging	Het
Krt90	T	A	15: 101,560,593	L171F	probably damaging	Het
Mthfd1	A	G	12: 76,303,749		probably null	Het
Olfr262	T	C	19: 12,241,590	I24V	probably benign	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr786	A	T	10: 129,437,307	D165V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,246,545		probably benign	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc12a5	A	G	2: 164,968,431	D10G	probably benign	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Sos1	T	C	17: 80,406,717	D1108G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Tacc2	A	G	7: 130,734,994	T2369A	probably benign	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubr5	T	C	15: 38,004,235		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Prss43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Prss43	APN	9	110829470	missense	probably benign	0.02
IGL01636:Prss43	APN	9	110827437	missense	possibly damaging	0.75
IGL03046:Prss43	UTSW	9	110830981	missense	probably benign	0.01
PIT4576001:Prss43	UTSW	9	110827887	missense	probably damaging	1.00
R0020:Prss43	UTSW	9	110828512	unclassified	probably benign
R0278:Prss43	UTSW	9	110827362	missense	probably benign	0.07
R0883:Prss43	UTSW	9	110829508	missense	probably damaging	1.00
R1384:Prss43	UTSW	9	110827442	missense	probably benign	0.10
R2212:Prss43	UTSW	9	110829464	missense	probably damaging	1.00
R3808:Prss43	UTSW	9	110827772	missense	probably damaging	1.00
R4202:Prss43	UTSW	9	110827461	missense	probably benign	0.08
R4530:Prss43	UTSW	9	110829504	missense	probably benign	0.38
R4752:Prss43	UTSW	9	110827768	missense	possibly damaging	0.47
R5009:Prss43	UTSW	9	110827421	missense	possibly damaging	0.50
R6920:Prss43	UTSW	9	110828612	missense	probably benign	0.04
R7271:Prss43	UTSW	9	110828603	missense	probably damaging	1.00
R7406:Prss43	UTSW	9	110828696	missense	probably damaging	1.00
R7758:Prss43	UTSW	9	110829391	missense	possibly damaging	0.91
R8257:Prss43	UTSW	9	110830812	missense	possibly damaging	0.95
R8686:Prss43	UTSW	9	110829426	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGTATTCACACAGTCCGCGG -3'
(R):5'- AGAGTGCAGCCTACACAGAG -3'

Sequencing Primer
(F):5'- ACAGTCCGCGGCAGCTG -3'
(R):5'- CTACATAGTGAGTTCCAGGGCTAC -3'

Posted On

2015-02-18