Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01636:Prss43'

93010

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss43

Ensembl Gene

ENSMUSG00000058398

Gene Name

serine protease 43

Synonyms

LOC272643, Tessp3

Accession Numbers

Essential gene?

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

Stock #

IGL01636

Quality Score

Status

Chromosome

Chromosomal Location

110655758-110660575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110656505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 64 (L64Q)

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: L64Q

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076752
Gene: ENSMUSG00000058398
AA Change: L64Q

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Adgrd1	G	T	5: 129,219,516 (GRCm39)		probably benign	Het
Bmp7	T	C	2: 172,717,001 (GRCm39)		probably benign	Het
Ccdc54	A	G	16: 50,410,277 (GRCm39)	*330Q	probably null	Het
Chd5	A	T	4: 152,469,110 (GRCm39)	K1812*	probably null	Het
Cnga3	T	A	1: 37,299,874 (GRCm39)	I236N	possibly damaging	Het
Ddost	T	G	4: 138,036,707 (GRCm39)	D135E	possibly damaging	Het
Dicer1	T	C	12: 104,688,500 (GRCm39)	D359G	probably damaging	Het
Dnah17	A	C	11: 117,931,882 (GRCm39)	S3697A	probably benign	Het
Dnttip2	G	A	3: 122,076,123 (GRCm39)	G685D	possibly damaging	Het
Dst	T	G	1: 34,254,650 (GRCm39)	S4552R	probably damaging	Het
Ebf2	G	A	14: 67,476,927 (GRCm39)	E157K	probably damaging	Het
Ehbp1	C	T	11: 22,039,584 (GRCm39)	V839M	probably benign	Het
Ehmt1	G	T	2: 24,729,620 (GRCm39)	T639K	probably damaging	Het
Esyt2	T	C	12: 116,329,550 (GRCm39)		probably null	Het
Etv6	T	C	6: 134,225,350 (GRCm39)	S194P	probably benign	Het
Fam184b	T	C	5: 45,741,637 (GRCm39)	H198R	probably benign	Het
Fam210b	T	C	2: 172,193,460 (GRCm39)	F91S	probably damaging	Het
Fam81a	G	A	9: 70,006,434 (GRCm39)	Q193*	probably null	Het
Fto	A	G	8: 92,135,969 (GRCm39)	D79G	probably damaging	Het
Haspin	C	T	11: 73,028,231 (GRCm39)	R286H	possibly damaging	Het
Hmcn1	C	T	1: 150,455,984 (GRCm39)	C5312Y	probably damaging	Het
Ik	T	A	18: 36,884,254 (GRCm39)	D245E	possibly damaging	Het
Itga1	A	G	13: 115,143,484 (GRCm39)	V349A	possibly damaging	Het
Kdm8	T	C	7: 125,060,377 (GRCm39)	V400A	probably damaging	Het
Larp1b	G	T	3: 40,924,913 (GRCm39)	R177L	probably benign	Het
Lifr	T	G	15: 7,208,499 (GRCm39)		probably benign	Het
Lrrn2	T	C	1: 132,864,959 (GRCm39)	L8P	possibly damaging	Het
Marcksl1	T	A	4: 129,408,587 (GRCm39)	D55E	probably benign	Het
Med12	C	A	X: 100,318,795 (GRCm39)	S74R	probably damaging	Het
Mtarc2	T	C	1: 184,564,838 (GRCm39)	K231E	probably benign	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c35	A	T	10: 129,168,752 (GRCm39)	M1L	probably damaging	Het
Or7e170	A	G	9: 19,795,484 (GRCm39)	V39A	probably benign	Het
Or8k39	G	A	2: 86,563,945 (GRCm39)	Q4*	probably null	Het
Orc3	A	C	4: 34,595,096 (GRCm39)	L233R	probably damaging	Het
Pik3cd	A	G	4: 149,738,772 (GRCm39)	M715T	possibly damaging	Het
Pyroxd2	C	A	19: 42,726,771 (GRCm39)	G209V	probably benign	Het
Rab3b	A	G	4: 108,797,916 (GRCm39)	D198G	possibly damaging	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,825,929 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,871,443 (GRCm39)		probably benign	Het
Strip2	C	A	6: 29,931,192 (GRCm39)	T381K	probably benign	Het
Svep1	A	T	4: 58,116,622 (GRCm39)	L876Q	possibly damaging	Het
Tle4	T	C	19: 14,429,897 (GRCm39)	I625V	probably damaging	Het
Tnfrsf23	T	C	7: 143,233,736 (GRCm39)	T81A	probably damaging	Het
Ttc41	A	G	10: 86,612,542 (GRCm39)	K1272E	probably benign	Het
Usp3	A	G	9: 66,469,834 (GRCm39)		probably null	Het
Vmn1r121	C	T	7: 20,832,282 (GRCm39)	V53M	probably benign	Het
Vmn1r65	A	T	7: 6,011,720 (GRCm39)	S171R	probably benign	Het
Vmn2r4	A	T	3: 64,313,657 (GRCm39)	D441E	probably benign	Het
Vps13d	A	T	4: 144,801,618 (GRCm39)	H2353Q	probably damaging	Het
Vwa8	T	C	14: 79,435,794 (GRCm39)	S1835P	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
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
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

Posted On

2013-12-09