Mutagenetix > Incidental Mutation

Incidental Mutation 'R2307:Prss53'

244636

Institutional Source

Beutler Lab

Gene Symbol

Prss53

Ensembl Gene

ENSMUSG00000044139

Gene Name

serine protease 53

Synonyms

BC039632

MMRRC Submission

040306-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2307 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

127485013-127490142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127490037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 18 (I18V)

Ref Sequence

ENSEMBL: ENSMUSP00000145763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033074] [ENSMUST00000050383] [ENSMUST00000119922] [ENSMUST00000121394] [ENSMUST00000205300] [ENSMUST00000206053]

AlphaFold

Q571E5

Predicted Effect

probably benign
Transcript: ENSMUST00000033074

SMART Domains

Protein: ENSMUSP00000033074
Gene: ENSMUSG00000096145

Domain	Start	End	E-Value	Type
VKc	5	153	1.29e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050383

SMART Domains

Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	31	1.36e-2	SMART
ZnF_C2H2	67	89	5.29e-5	SMART
ZnF_C2H2	231	253	3.21e-4	SMART
ZnF_C2H2	258	280	9.58e-3	SMART
ZnF_C2H2	286	308	2.24e-3	SMART
low complexity region	345	362	N/A	INTRINSIC
ZnF_C2H2	366	388	5.42e-2	SMART
ZnF_C2H2	393	415	8.34e-3	SMART
ZnF_C2H2	457	479	5.9e-3	SMART
ZnF_C2H2	484	506	4.87e-4	SMART
ZnF_C2H2	566	588	2.32e-1	SMART
ZnF_C2H2	606	628	6.32e-3	SMART
ZnF_C2H2	633	655	1.53e-1	SMART
low complexity region	737	750	N/A	INTRINSIC
low complexity region	786	797	N/A	INTRINSIC
ZnF_C2H2	806	828	2.17e-1	SMART
ZnF_C2H2	833	855	3.69e-4	SMART
ZnF_C2H2	866	889	1.16e-1	SMART
low complexity region	890	911	N/A	INTRINSIC
ZnF_C2H2	941	961	9.31e1	SMART
ZnF_C2H2	1035	1057	1.95e-3	SMART
ZnF_C2H2	1062	1084	3.39e-3	SMART
low complexity region	1149	1163	N/A	INTRINSIC
ZnF_C2H2	1170	1192	1.58e-3	SMART
ZnF_C2H2	1197	1219	5.42e-2	SMART
ZnF_C2H2	1225	1247	3.69e-4	SMART
ZnF_C2H2	1266	1286	5.12e1	SMART
ZnF_C2H2	1293	1315	3.69e-4	SMART
ZnF_C2H2	1333	1355	3.11e-2	SMART
ZnF_C2H2	1550	1572	5.9e-3	SMART
ZnF_C2H2	1640	1662	1.08e-1	SMART
ZnF_C2H2	1667	1689	4.11e-2	SMART
ZnF_C2H2	1695	1717	4.11e-2	SMART
ZnF_C2H2	1724	1746	1.45e-2	SMART
low complexity region	1751	1764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119922

SMART Domains

Protein: ENSMUSP00000112542
Gene: ENSMUSG00000096145

Domain	Start	End	E-Value	Type
Pfam:VKOR	3	85	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121394
AA Change: I18V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139
AA Change: I18V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	38	268	3.91e-45	SMART
Tryp_SPc	300	520	9.95e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126662

SMART Domains

Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804

Domain	Start	End	E-Value	Type
VKc	1	111	8.84e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205300
AA Change: I18V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206053

Predicted Effect

probably benign
Transcript: ENSMUST00000206340

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	C	12: 84,122,375 (GRCm39)	F320L	possibly damaging	Het
Alox12e	T	C	11: 70,212,087 (GRCm39)	K170R	probably damaging	Het
Ano2	T	C	6: 125,969,849 (GRCm39)	S722P	probably benign	Het
Cep192	A	G	18: 67,946,970 (GRCm39)	Y215C	probably benign	Het
Ces2g	A	G	8: 105,695,044 (GRCm39)	N555S	probably benign	Het
Cfap58	C	T	19: 47,950,925 (GRCm39)	Q429*	probably null	Het
Clcnkb	A	G	4: 141,139,640 (GRCm39)	S121P	probably damaging	Het
Cltb	T	A	13: 54,746,564 (GRCm39)	E67D	probably damaging	Het
Ddhd1	A	T	14: 45,846,447 (GRCm39)	L581Q	probably damaging	Het
Dnajc3	T	C	14: 119,190,633 (GRCm39)		probably null	Het
Fgf14	T	A	14: 124,221,234 (GRCm39)	N190I	probably damaging	Het
Galnt17	T	G	5: 130,929,460 (GRCm39)	Y449S	probably damaging	Het
Grin3a	C	T	4: 49,793,033 (GRCm39)		probably null	Het
Gxylt2	A	G	6: 100,764,173 (GRCm39)	N286S	probably damaging	Het
H2-K2	A	G	17: 34,216,113 (GRCm39)	V120A	probably benign	Het
Inpp5f	T	C	7: 128,296,034 (GRCm39)	V168A	probably damaging	Het
Kif1a	G	T	1: 93,006,491 (GRCm39)	H59N	probably damaging	Het
Krt24	T	C	11: 99,175,456 (GRCm39)	Q193R	possibly damaging	Het
Krtap5-4	C	A	7: 141,857,351 (GRCm39)	S7*	probably null	Het
Ltn1	A	G	16: 87,229,312 (GRCm39)		probably null	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mep1b	A	T	18: 21,221,632 (GRCm39)	D194V	probably damaging	Het
Mettl25b	A	T	3: 87,834,162 (GRCm39)	M171K	possibly damaging	Het
Orc3	C	T	4: 34,586,503 (GRCm39)	V382M	probably damaging	Het
Pclo	T	A	5: 14,728,665 (GRCm39)		probably benign	Het
Pcolce	T	C	5: 137,607,356 (GRCm39)	H45R	probably damaging	Het
Prf1	T	C	10: 61,138,942 (GRCm39)	V300A	possibly damaging	Het
Prorp	T	C	12: 55,351,101 (GRCm39)	F137L	probably damaging	Het
Rnase2b	A	G	14: 51,400,188 (GRCm39)	T90A	probably benign	Het
Rpap1	G	A	2: 119,614,247 (GRCm39)	P50L	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec16b	G	A	1: 157,363,062 (GRCm39)	V298I	probably damaging	Het
Smarcd3	C	T	5: 24,800,746 (GRCm39)	R156Q	probably damaging	Het
St6galnac2	C	T	11: 116,572,731 (GRCm39)	A242T	probably damaging	Het
Syce1l	T	C	8: 114,369,937 (GRCm39)		probably null	Het
Tcam1	T	C	11: 106,174,940 (GRCm39)	C132R	probably damaging	Het
Trpa1	T	C	1: 14,982,605 (GRCm39)	I84V	probably benign	Het
Ttn	G	A	2: 76,717,342 (GRCm39)	R455*	probably null	Het
Ubl5	T	A	9: 20,557,876 (GRCm39)		probably benign	Het
Ubr2	T	A	17: 47,277,141 (GRCm39)	K779*	probably null	Het
Ugt1a10	A	G	1: 87,983,669 (GRCm39)	I156V	probably benign	Het
Unc13b	A	G	4: 43,239,854 (GRCm39)	T3513A	probably damaging	Het
Vmn1r20	C	T	6: 57,409,121 (GRCm39)	T149I	probably benign	Het
Zfp804a	T	A	2: 82,087,201 (GRCm39)	D343E	probably benign	Het

Other mutations in Prss53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Prss53	APN	7	127,485,724 (GRCm39)	missense	probably benign
IGL02244:Prss53	APN	7	127,487,964 (GRCm39)	missense	possibly damaging	0.73
IGL02310:Prss53	APN	7	127,485,786 (GRCm39)	missense	probably benign	0.37
PIT4515001:Prss53	UTSW	7	127,487,963 (GRCm39)	missense	probably benign	0.01
R1933:Prss53	UTSW	7	127,485,434 (GRCm39)	makesense	probably null
R1934:Prss53	UTSW	7	127,485,920 (GRCm39)	splice site	probably null
R1994:Prss53	UTSW	7	127,486,565 (GRCm39)	missense	probably benign	0.03
R2304:Prss53	UTSW	7	127,487,479 (GRCm39)	missense	probably benign
R4934:Prss53	UTSW	7	127,487,879 (GRCm39)	missense	probably benign
R6649:Prss53	UTSW	7	127,485,747 (GRCm39)	missense	probably benign	0.37
R7854:Prss53	UTSW	7	127,488,117 (GRCm39)	missense	probably benign	0.27
R8899:Prss53	UTSW	7	127,488,193 (GRCm39)	missense	possibly damaging	0.90
R9182:Prss53	UTSW	7	127,487,554 (GRCm39)	missense	probably benign	0.01
R9314:Prss53	UTSW	7	127,490,039 (GRCm39)	missense	probably benign
R9492:Prss53	UTSW	7	127,488,802 (GRCm39)	missense	probably damaging	0.99
R9657:Prss53	UTSW	7	127,486,238 (GRCm39)	missense	probably damaging	1.00
Z1088:Prss53	UTSW	7	127,486,570 (GRCm39)	nonsense	probably null
Z1177:Prss53	UTSW	7	127,488,721 (GRCm39)	missense	probably damaging	1.00
Z1177:Prss53	UTSW	7	127,488,246 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTGGCCCAGGAAAATCAC -3'
(R):5'- ATTTGAACTGGAGGAGTATGGC -3'

Sequencing Primer
(F):5'- CACAGCCATTTTGACAATAGGCTCTG -3'
(R):5'- GGGTAAGGGCCACACAACC -3'

Posted On

2014-10-30