Mutagenetix > Incidental Mutation

Incidental Mutation 'R5539:Prss40'

435803

Institutional Source

Beutler Lab

Gene Symbol

Prss40

Ensembl Gene

ENSMUSG00000037529

Gene Name

serine protease 40

Synonyms

Tesp2

MMRRC Submission

043097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34583049-34600024 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 34591760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 148 (*148W)

Ref Sequence

ENSEMBL: ENSMUSP00000140885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047840] [ENSMUST00000115071] [ENSMUST00000190790]

AlphaFold

A6H6T1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047840
AA Change: D305G

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045118
Gene: ENSMUSG00000037529
AA Change: D305G

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
Tryp_SPc	68	308	1.45e-71	SMART
low complexity region	309	319	N/A	INTRINSIC
low complexity region	354	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115071

SMART Domains

Protein: ENSMUSP00000110723
Gene: ENSMUSG00000037529

Domain	Start	End	E-Value	Type
Tryp_SPc	1	146	8.36e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000190790
AA Change: *148W

SMART Domains

Protein: ENSMUSP00000140885
Gene: ENSMUSG00000037529
AA Change: *148W

Domain	Start	End	E-Value	Type
Tryp_SPc	4	145	2.3e-7	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,917 (GRCm39)	S44C	probably damaging	Het
Abca4	A	G	3: 121,963,557 (GRCm39)	I846V	probably damaging	Het
Aldh4a1	T	C	4: 139,365,833 (GRCm39)	S275P	probably benign	Het
Arhgap12	A	T	18: 6,111,932 (GRCm39)	L144H	probably benign	Het
Ccdc141	A	T	2: 76,845,437 (GRCm39)	I1210N	probably damaging	Het
Ccdc175	T	C	12: 72,191,587 (GRCm39)	T330A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dnah17	T	C	11: 117,964,486 (GRCm39)	K2444E	probably benign	Het
Dnajc3	G	A	14: 119,208,159 (GRCm39)	V265M	probably damaging	Het
Flg2	T	A	3: 93,127,753 (GRCm39)	Y2222N	unknown	Het
Flnc	G	T	6: 29,446,229 (GRCm39)	G882V	probably damaging	Het
Fndc5	T	A	4: 129,032,514 (GRCm39)	V39D	probably damaging	Het
Gabrr3	A	T	16: 59,281,758 (GRCm39)	H371L	probably benign	Het
Gm10717	A	T	9: 3,030,438 (GRCm39)	H33L	probably damaging	Het
Gm5422	A	G	10: 31,124,646 (GRCm39)		noncoding transcript	Het
Kri1	G	A	9: 21,190,668 (GRCm39)	Q280*	probably null	Het
Lcp1	T	C	14: 75,466,738 (GRCm39)	V615A	probably benign	Het
Ltbp4	T	C	7: 27,027,149 (GRCm39)	Y407C	probably damaging	Het
Med30	G	T	15: 52,584,462 (GRCm39)	D127Y	probably damaging	Het
Mybpc2	A	G	7: 44,164,317 (GRCm39)	V416A	probably benign	Het
Notch2	C	T	3: 98,044,898 (GRCm39)	R1607C	probably damaging	Het
Nr4a3	T	A	4: 48,056,525 (GRCm39)		probably null	Het
Ntf5	G	T	7: 45,065,354 (GRCm39)	R162L	probably benign	Het
Nxpe3	A	G	16: 55,711,034 (GRCm39)	W2R	possibly damaging	Het
Or10d1c	T	C	9: 38,893,573 (GRCm39)	I256V	possibly damaging	Het
Or14j4	T	A	17: 37,921,646 (GRCm39)	M1L	probably benign	Het
Or1m1	G	A	9: 18,666,134 (GRCm39)	R266C	probably damaging	Het
Or5p58	A	T	7: 107,694,433 (GRCm39)	C115S	probably benign	Het
Pan2	C	A	10: 128,144,002 (GRCm39)	D99E	probably benign	Het
Pcdh12	T	C	18: 38,414,797 (GRCm39)	H776R	possibly damaging	Het
Prdm2	T	C	4: 142,859,264 (GRCm39)	H1342R	possibly damaging	Het
Prpf8	A	G	11: 75,394,464 (GRCm39)	T1800A	probably benign	Het
Pygo1	C	T	9: 72,852,061 (GRCm39)	P83S	probably damaging	Het
Raf1	G	T	6: 115,596,317 (GRCm39)	S619R	probably damaging	Het
Rtf1	A	G	2: 119,560,405 (GRCm39)	M596V	possibly damaging	Het
Slc12a5	T	A	2: 164,829,126 (GRCm39)	D578E	possibly damaging	Het
Slc35b4	A	G	6: 34,153,737 (GRCm39)	V18A	probably damaging	Het
Spata31	T	A	13: 65,070,783 (GRCm39)	I977K	probably benign	Het
Tor2a	T	C	2: 32,650,672 (GRCm39)	I222T	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Trip11	A	G	12: 101,851,386 (GRCm39)	S893P	probably damaging	Het
Trmt10c	G	A	16: 55,855,324 (GRCm39)	P104S	probably damaging	Het
Ubr3	A	T	2: 69,850,877 (GRCm39)	Y1765F	probably damaging	Het
Zfp951	C	T	5: 104,962,712 (GRCm39)	E285K	probably damaging	Het

Other mutations in Prss40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00647:Prss40	APN	1	34,591,620 (GRCm39)	missense	probably benign	0.01
IGL01298:Prss40	APN	1	34,599,847 (GRCm39)	missense	probably benign
IGL01694:Prss40	APN	1	34,595,178 (GRCm39)	missense	probably benign	0.02
IGL03030:Prss40	APN	1	34,597,182 (GRCm39)	missense	probably damaging	0.99
IGL03393:Prss40	APN	1	34,597,182 (GRCm39)	missense	probably damaging	0.99
R0294:Prss40	UTSW	1	34,595,162 (GRCm39)	missense	possibly damaging	0.58
R1450:Prss40	UTSW	1	34,595,178 (GRCm39)	missense	probably benign	0.02
R1987:Prss40	UTSW	1	34,597,095 (GRCm39)	missense	possibly damaging	0.75
R2356:Prss40	UTSW	1	34,598,984 (GRCm39)	nonsense	probably null
R2395:Prss40	UTSW	1	34,598,986 (GRCm39)	missense	possibly damaging	0.86
R4042:Prss40	UTSW	1	34,599,960 (GRCm39)	nonsense	probably null
R4043:Prss40	UTSW	1	34,599,960 (GRCm39)	nonsense	probably null
R4044:Prss40	UTSW	1	34,599,960 (GRCm39)	nonsense	probably null
R4232:Prss40	UTSW	1	34,599,873 (GRCm39)	missense	probably benign	0.07
R5418:Prss40	UTSW	1	34,599,840 (GRCm39)	missense	probably benign	0.00
R5719:Prss40	UTSW	1	34,591,598 (GRCm39)	utr 3 prime	probably benign
R6365:Prss40	UTSW	1	34,591,598 (GRCm39)	utr 3 prime	probably benign
R7002:Prss40	UTSW	1	34,591,481 (GRCm39)	splice site	probably null
R7366:Prss40	UTSW	1	34,598,952 (GRCm39)	nonsense	probably null
R7521:Prss40	UTSW	1	34,597,090 (GRCm39)	missense	probably benign	0.03
R7777:Prss40	UTSW	1	34,591,846 (GRCm39)	nonsense	probably null
R8138:Prss40	UTSW	1	34,597,080 (GRCm39)	missense	probably damaging	0.99
R8360:Prss40	UTSW	1	34,599,876 (GRCm39)	missense	probably benign	0.00
R8542:Prss40	UTSW	1	34,596,967 (GRCm39)	missense	probably damaging	1.00
R8904:Prss40	UTSW	1	34,595,045 (GRCm39)	splice site	probably benign
R9399:Prss40	UTSW	1	34,591,794 (GRCm39)	missense	probably damaging	1.00
R9532:Prss40	UTSW	1	34,597,106 (GRCm39)	missense	probably damaging	1.00
Z1176:Prss40	UTSW	1	34,598,860 (GRCm39)	missense	possibly damaging	0.85
Z1177:Prss40	UTSW	1	34,599,900 (GRCm39)	nonsense	probably null
Z1177:Prss40	UTSW	1	34,591,667 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAACTGTTGCAGGAGGATC -3'
(R):5'- AGCAGAGACACTTGGCATCC -3'

Sequencing Primer
(F):5'- CTGTTGCAGGAGGATCTGGGAG -3'
(R):5'- CCAGTCAGCGTCTGTCAC -3'

Posted On

2016-10-24