Mutagenetix > Incidental Mutation

Incidental Mutation 'R6904:Prss41'

538710

Institutional Source

Beutler Lab

Gene Symbol

Prss41

Ensembl Gene

ENSMUSG00000024114

Gene Name

serine protease 41

Synonyms

Tessp1, 4931440B09Rik

MMRRC Submission

045033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R6904 (G1)

Quality Score

89.0077

Status

Not validated

Chromosome

Chromosomal Location

24055759-24063146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24056622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 151 (K151R)

Ref Sequence

ENSEMBL: ENSMUSP00000120141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024926] [ENSMUST00000059906] [ENSMUST00000115444] [ENSMUST00000122936] [ENSMUST00000151797]

AlphaFold

Q920S2

Predicted Effect

probably benign
Transcript: ENSMUST00000024926
AA Change: K191R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024926
Gene: ENSMUSG00000024114
AA Change: K191R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	52	289	2.48e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059906

SMART Domains

Protein: ENSMUSP00000059491
Gene: ENSMUSG00000049620

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Tryp_SPc	33	271	9.03e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115444

SMART Domains

Protein: ENSMUSP00000111104
Gene: ENSMUSG00000049620

Domain	Start	End	E-Value	Type
Tryp_SPc	15	253	4.5e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122936
AA Change: K151R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120141
Gene: ENSMUSG00000024114
AA Change: K151R

Domain	Start	End	E-Value	Type
Tryp_SPc	12	249	2.48e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151797

SMART Domains

Protein: ENSMUSP00000122453
Gene: ENSMUSG00000024114

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	52	204	2.91e-12	SMART
low complexity region	228	244	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,516 (GRCm39)	Y406*	probably null	Het
Acadvl	T	C	11: 69,905,159 (GRCm39)	D109G	probably benign	Het
Adam24	G	A	8: 41,134,542 (GRCm39)	G670E	probably damaging	Het
Angpt1	T	C	15: 42,323,136 (GRCm39)	M378V	probably benign	Het
Ankrd33	G	A	15: 101,014,993 (GRCm39)		probably null	Het
Apol7b	G	A	15: 77,307,625 (GRCm39)	T290I	probably benign	Het
Atg4a-ps	A	G	3: 103,553,180 (GRCm39)	W54R	probably damaging	Het
B3glct	A	G	5: 149,663,069 (GRCm39)		probably null	Het
Bmp7	A	G	2: 172,714,706 (GRCm39)	S368P	probably damaging	Het
Boc	A	G	16: 44,312,154 (GRCm39)	V636A	probably damaging	Het
Cacna1i	G	A	15: 80,259,002 (GRCm39)	R1237H	probably damaging	Het
Cdcp1	T	C	9: 123,002,980 (GRCm39)	D697G	probably benign	Het
Cep85l	T	C	10: 53,225,194 (GRCm39)	T132A	probably benign	Het
Ces1b	T	A	8: 93,787,038 (GRCm39)	Y447F	probably damaging	Het
Cfhr4	T	G	1: 139,659,391 (GRCm39)	N642H	possibly damaging	Het
Cntn4	A	T	6: 106,674,544 (GRCm39)	T1015S	probably benign	Het
Eea1	T	G	10: 95,838,741 (GRCm39)		probably null	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Hipk1	A	T	3: 103,684,828 (GRCm39)	N262K	possibly damaging	Het
Jmjd8	G	A	17: 26,048,026 (GRCm39)	R41H	possibly damaging	Het
Klhl3	T	A	13: 58,178,259 (GRCm39)	T344S	probably damaging	Het
Krt39	T	C	11: 99,410,647 (GRCm39)	D175G	probably damaging	Het
Map4k1	A	G	7: 28,686,227 (GRCm39)	Y81C	probably damaging	Het
Mpdu1	T	A	11: 69,549,411 (GRCm39)	T95S	probably benign	Het
Myl12b	A	T	17: 71,284,135 (GRCm39)	I31N	probably damaging	Het
Ndufaf5	T	A	2: 140,030,700 (GRCm39)	Y195*	probably null	Het
Or4c119	G	A	2: 88,987,157 (GRCm39)	R121C	possibly damaging	Het
Or4d5	T	C	9: 40,012,652 (GRCm39)	I45V	probably benign	Het
Or51v15-ps1	A	T	7: 103,278,790 (GRCm39)	F126I	probably benign	Het
Or52z12	T	A	7: 103,233,727 (GRCm39)	I166N	possibly damaging	Het
Or5w17	A	G	2: 87,584,223 (GRCm39)	V38A	probably benign	Het
Oxgr1	T	A	14: 120,259,431 (GRCm39)	I259F	possibly damaging	Het
Pcdhb9	T	A	18: 37,534,970 (GRCm39)	D321E	probably benign	Het
Pi4kb	G	T	3: 94,900,461 (GRCm39)	R392L	probably damaging	Het
Pramel18	G	A	4: 101,767,291 (GRCm39)	C180Y	possibly damaging	Het
Rev3l	T	A	10: 39,697,477 (GRCm39)	V658D	probably benign	Het
Snx4	A	G	16: 33,115,108 (GRCm39)	I430V	probably damaging	Het
Tanc2	C	T	11: 105,726,056 (GRCm39)	H407Y	possibly damaging	Het
Tcf25	G	A	8: 124,127,437 (GRCm39)		probably null	Het
Tsc22d1	A	T	14: 76,743,923 (GRCm39)	K24*	probably null	Het
Vmn2r30	A	G	7: 7,315,547 (GRCm39)	F762S	probably damaging	Het
Xrcc6	A	G	15: 81,913,323 (GRCm39)	T319A	probably benign	Het
Zbtb1	C	T	12: 76,432,985 (GRCm39)	R324*	probably null	Het
Zc3h7a	A	G	16: 10,963,535 (GRCm39)	Y729H	probably damaging	Het
Zfp329	C	A	7: 12,540,457 (GRCm39)		probably benign	Het
Zfp456	A	T	13: 67,514,384 (GRCm39)	S441T	probably benign	Het

Other mutations in Prss41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:Prss41	APN	17	24,062,830 (GRCm39)	missense	probably benign	0.01
IGL03031:Prss41	APN	17	24,061,396 (GRCm39)	missense	probably damaging	1.00
IGL03131:Prss41	APN	17	24,061,498 (GRCm39)	missense	probably benign	0.00
FR4737:Prss41	UTSW	17	24,063,071 (GRCm39)	small deletion	probably benign
R0491:Prss41	UTSW	17	24,061,477 (GRCm39)	missense	possibly damaging	0.91
R2014:Prss41	UTSW	17	24,056,464 (GRCm39)	critical splice donor site	probably null
R3813:Prss41	UTSW	17	24,056,596 (GRCm39)	nonsense	probably null
R4888:Prss41	UTSW	17	24,055,977 (GRCm39)	missense	probably benign	0.08
R5707:Prss41	UTSW	17	24,061,390 (GRCm39)	missense	probably benign	0.00
R7486:Prss41	UTSW	17	24,063,072 (GRCm39)	small deletion	probably benign
R7782:Prss41	UTSW	17	24,056,087 (GRCm39)	missense	probably benign	0.40
R8087:Prss41	UTSW	17	24,056,076 (GRCm39)	missense	probably damaging	1.00
R8141:Prss41	UTSW	17	24,056,607 (GRCm39)	missense	probably damaging	1.00
R9189:Prss41	UTSW	17	24,061,361 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTCCAGCCTGAAGTGAAGGAG -3'
(R):5'- CTCTTGCCCTTAAGAGTAGAGG -3'

Sequencing Primer
(F):5'- TTCCTCAGAGGGGCAGG -3'
(R):5'- CTTGCCCTTAAGAGTAGAGGAGGTC -3'

Posted On

2018-11-06