Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03334:Prss48'

416962

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss48

Ensembl Gene

ENSMUSG00000049013

Gene Name

protease, serine 48

Synonyms

Gm1019, Esspl

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

85993810-86002491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85997318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 191 (E191G)

Ref Sequence

ENSEMBL: ENSMUSP00000051199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061343]

AlphaFold

Q14B25

Predicted Effect

probably damaging
Transcript: ENSMUST00000061343
AA Change: E191G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051199
Gene: ENSMUSG00000049013
AA Change: E191G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Tryp_SPc	39	271	9.46e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182969

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,947,475	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441		probably null	Het
Clca4a	A	T	3: 144,953,866	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821		probably benign	Het
Col27a1	A	T	4: 63,314,722	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837		probably null	Het
Fnbp1l	A	G	3: 122,557,949	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963	R48*	probably null	Het
Golga4	C	T	9: 118,537,233		probably benign	Het
Grin1	C	T	2: 25,298,393		probably null	Het
Ifi203	T	A	1: 173,937,835	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122	V594A	probably benign	Het
Krr1	T	G	10: 111,980,054	S275R	probably benign	Het
Lars	T	C	18: 42,221,506	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611		probably null	Het
Nktr	T	C	9: 121,748,176	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729	V1383A	probably damaging	Het
Psg25	T	A	7: 18,529,774	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665		probably benign	Het
Vmn1r218	T	C	13: 23,136,618	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355	F382I	possibly damaging	Het

Other mutations in Prss48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0554:Prss48	UTSW	3	86000921	missense	probably benign	0.06
R1903:Prss48	UTSW	3	85998307	nonsense	probably null
R2884:Prss48	UTSW	3	85997255	missense	probably benign	0.10
R5730:Prss48	UTSW	3	85997256	missense	possibly damaging	0.89
R5889:Prss48	UTSW	3	85998185	missense	probably damaging	1.00
R6625:Prss48	UTSW	3	85998066	missense	probably benign	0.02
R7357:Prss48	UTSW	3	85997221	missense	probably damaging	1.00

Posted On

2016-08-02