Mutagenetix > Incidental Mutations

Incidental Mutation 'R5219:Prss38'

402235

Institutional Source

Beutler Lab

Gene Symbol

Prss38

Ensembl Gene

ENSMUSG00000049291

Gene Name

protease, serine 38

Synonyms

Gm249, LOC216797

MMRRC Submission

042792-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59372669-59375657 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 59375483 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000052010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061481]

Predicted Effect

probably benign
Transcript: ENSMUST00000061481

SMART Domains

Protein: ENSMUSP00000052010
Gene: ENSMUSG00000049291

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Tryp_SPc	55	284	7.08e-75	SMART
low complexity region	288	305	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133698

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700063H04Rik	A	G	6: 122,392,340		noncoding transcript	Het
4933428M09Rik	G	T	X: 139,179,533	G16*	probably null	Het
9330182L06Rik	G	T	5: 9,461,486	W949C	probably damaging	Het
A2m	A	G	6: 121,676,950	H1414R	possibly damaging	Het
A530064D06Rik	G	T	17: 48,163,350	D154E	possibly damaging	Het
Adam34	C	T	8: 43,651,424	D395N	probably benign	Het
Agl	A	G	3: 116,778,721	V195A	possibly damaging	Het
Aip	T	C	19: 4,115,180	I230V	probably benign	Het
Akap10	A	C	11: 61,922,791	S43A	probably benign	Het
Ap3d1	T	C	10: 80,709,817	E1026G	probably benign	Het
Arid5b	T	A	10: 68,278,110	K32N	probably benign	Het
Atp6v0a2	C	A	5: 124,713,185	N477K	probably damaging	Het
Atr	A	C	9: 95,881,238	I1062L	probably damaging	Het
Ces2h	T	C	8: 105,016,646	V171A	probably damaging	Het
Cnot2	A	G	10: 116,506,310		probably null	Het
Cpne3	A	T	4: 19,526,366	L391H	probably damaging	Het
Ctdp1	A	G	18: 80,447,460	L715P	probably damaging	Het
Dcxr	T	C	11: 120,725,488		probably benign	Het
Dhtkd1	C	T	2: 5,914,816	A585T	probably benign	Het
Fcgbp	G	A	7: 28,104,085	A1705T	probably damaging	Het
Galr1	A	T	18: 82,393,985	V252D	probably damaging	Het
Gm11677	A	G	11: 111,725,399		noncoding transcript	Het
Gp6	A	G	7: 4,368,999	V252A	possibly damaging	Het
Inpp4b	T	C	8: 81,884,156	V176A	probably benign	Het
Irx2	G	C	13: 72,631,301	A235P	probably damaging	Het
Klk1b11	G	A	7: 43,999,696	C219Y	probably damaging	Het
Lamc1	C	A	1: 153,227,696	V1375L	probably damaging	Het
Lars	A	T	18: 42,234,720	V431E	probably benign	Het
Lmntd2	T	C	7: 141,211,474		probably null	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,327,311		probably benign	Het
Ltbp4	A	T	7: 27,327,321	W500R	probably benign	Het
Mdn1	C	T	4: 32,723,690	P2542L	probably damaging	Het
Nadk	A	G	4: 155,584,254	I127M	probably benign	Het
Nxph1	T	A	6: 9,247,765	Y245*	probably null	Het
Olfr1246	C	T	2: 89,590,702	V138I	probably benign	Het
Olfr827	T	A	10: 130,210,924	T69S	possibly damaging	Het
Olfr831-ps1	T	C	9: 18,932,694		probably benign	Het
Olfr954	G	T	9: 39,462,267	V276L	probably benign	Het
Orc1	T	C	4: 108,590,769	F71S	probably damaging	Het
Pccb	A	T	9: 100,985,209	Y404*	probably null	Het
Pde2a	A	C	7: 101,504,604	I460L	probably damaging	Het
Ppp3cb	G	T	14: 20,528,195	C162*	probably null	Het
Prickle2	T	C	6: 92,376,530	S652G	probably benign	Het
Rcor3	T	A	1: 192,137,513		probably benign	Het
Rgp1	C	T	4: 43,579,440	A16V	probably damaging	Het
Rptor	G	A	11: 119,843,713	G514D	probably damaging	Het
Scnn1g	T	A	7: 121,766,266	Y514N	probably damaging	Het
Sephs1	A	G	2: 4,891,690	D134G	probably benign	Het
Slc38a3	A	G	9: 107,651,912		probably benign	Het
Slc6a1	A	T	6: 114,310,221	M388L	probably benign	Het
Ssbp3	A	T	4: 107,047,458	N350I	probably damaging	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Sult1e1	A	T	5: 87,578,586	I223N	probably damaging	Het
Tcf20	C	A	15: 82,856,381	G290C	probably damaging	Het
Tekt2	G	T	4: 126,322,264	T412K	possibly damaging	Het
Trabd2b	A	G	4: 114,602,810	T382A	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubr4	C	A	4: 139,477,232	Y4818*	probably null	Het
Vmn1r204	A	T	13: 22,556,899	R233S	probably damaging	Het
Vmn1r86	A	G	7: 13,102,455	Y165H	probably damaging	Het
Yaf2	A	C	15: 93,285,474	C152G	probably benign	Het
Zfp804b	A	T	5: 6,770,703	F751I	probably benign	Het

Other mutations in Prss38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03075:Prss38	APN	11	59373055	missense	probably damaging	1.00
LCD18:Prss38	UTSW	11	59375641	utr 5 prime	probably benign
R0001:Prss38	UTSW	11	59373180	splice site	probably benign
R0097:Prss38	UTSW	11	59375608	missense	possibly damaging	0.86
R0097:Prss38	UTSW	11	59375608	missense	possibly damaging	0.86
R0540:Prss38	UTSW	11	59375543	missense	possibly damaging	0.50
R0607:Prss38	UTSW	11	59375543	missense	possibly damaging	0.50
R1966:Prss38	UTSW	11	59373484	missense	probably damaging	1.00
R4394:Prss38	UTSW	11	59373028	missense	probably damaging	1.00
R4397:Prss38	UTSW	11	59373028	missense	probably damaging	1.00
R4529:Prss38	UTSW	11	59373499	missense	probably damaging	1.00
R4738:Prss38	UTSW	11	59372945	missense	probably benign	0.00
R5061:Prss38	UTSW	11	59374370	missense	probably damaging	0.98
R5306:Prss38	UTSW	11	59372995	missense	probably benign	0.00
R6894:Prss38	UTSW	11	59373024	missense	probably benign	0.19
R7286:Prss38	UTSW	11	59375558	missense	probably benign	0.00
R7860:Prss38	UTSW	11	59375170	missense	probably damaging	1.00
T0970:Prss38	UTSW	11	59373148	missense	possibly damaging	0.81
Z1176:Prss38	UTSW	11	59374334	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGCTTGCCTTGCAGGAC -3'
(R):5'- CGCTGTCACATTTCCTGGTCAG -3'

Sequencing Primer
(F):5'- TGCCTTGCAGGACTGGCTG -3'
(R):5'- ACATTTCCTGGTCAGCTGCC -3'

Posted On

2016-07-22