Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03075:Prss38'

417662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss38

Ensembl Gene

ENSMUSG00000049291

Gene Name

protease, serine 38

Synonyms

Gm249, LOC216797

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL03075

Quality Score

Status

Chromosome

Chromosomal Location

59372669-59375657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59373055 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 277 (V277G)

Ref Sequence

ENSEMBL: ENSMUSP00000052010 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061481
AA Change: V277G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052010
Gene: ENSMUSG00000049291
AA Change: V277G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	G	A	13: 4,272,255	R263C	probably damaging	Het
Axdnd1	A	T	1: 156,395,442	S217T	probably damaging	Het
Crtc3	G	A	7: 80,604,403		probably benign	Het
Ctnna2	A	T	6: 76,954,730	M642K	probably benign	Het
Ddx56	A	T	11: 6,261,632	H491Q	probably benign	Het
Dvl1	A	G	4: 155,854,583	E208G	probably damaging	Het
Fam135a	A	G	1: 24,030,906		probably benign	Het
Gabpa	T	A	16: 84,852,607	V234D	possibly damaging	Het
Gjb4	A	G	4: 127,351,593	V185A	possibly damaging	Het
Hlcs	C	T	16: 94,138,847	A149T	probably damaging	Het
Il1f10	T	A	2: 24,293,176	I44N	possibly damaging	Het
Itih4	A	G	14: 30,892,283	I397V	probably benign	Het
Kat6b	C	T	14: 21,661,570	R820*	probably null	Het
Mmp17	T	C	5: 129,595,074	L137P	probably damaging	Het
Myh2	A	G	11: 67,180,836	N493S	probably benign	Het
Myo9b	A	T	8: 71,354,527	Q1589L	probably damaging	Het
Olfr202	T	A	16: 59,283,928	T190S	possibly damaging	Het
Olfr389	A	T	11: 73,776,472	L285Q	probably damaging	Het
Osbpl8	A	G	10: 111,291,556	I834V	probably benign	Het
P2ry12	A	T	3: 59,218,158	V32D	probably damaging	Het
Polg	A	G	7: 79,451,912	V1052A	probably damaging	Het
Rell2	G	T	18: 37,957,681	R137L	probably damaging	Het
Scara3	C	T	14: 65,931,154	R338H	probably damaging	Het
Skint4	T	C	4: 112,087,042	L17P	probably damaging	Het
Slco1a6	C	T	6: 142,103,149		probably benign	Het
Smyd2	T	A	1: 189,888,832	I230F	probably damaging	Het
Sv2b	G	T	7: 75,136,320	H451N	probably benign	Het
Tbpl2	A	T	2: 24,071,985		probably benign	Het
Tmprss9	A	G	10: 80,884,029	D144G	possibly damaging	Het
Trove2	A	C	1: 143,770,771	S79A	probably benign	Het
Vwa8	T	C	14: 78,933,756	Y247H	probably damaging	Het
Zc3h15	T	C	2: 83,662,191	Y337H	possibly damaging	Het

Other mutations in Prss38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5219:Prss38	UTSW	11	59375483	splice site	probably benign
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
R7943: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

Posted On

2016-08-02