Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01780:Prss1'

154172

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss1

Ensembl Gene

ENSMUSG00000062751

Gene Name

serine protease 1 (trypsin 1)

Synonyms

Trygn16, Try-1, PRSS1, Try1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01780

Quality Score

Status

Chromosome

Chromosomal Location

41435866-41440720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41440139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 159 (Q159K)

Ref Sequence

ENSEMBL: ENSMUSP00000031910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031910]

AlphaFold

Q9Z1R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031910
AA Change: Q159K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031910
Gene: ENSMUSG00000062751
AA Change: Q159K

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Tryp_SPc	23	239	9.87e-106	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	G	8: 71,914,121 (GRCm39)	V169A	probably benign	Het
Aopep	A	G	13: 63,357,939 (GRCm39)	N648D	probably benign	Het
BC024139	C	A	15: 76,005,343 (GRCm39)	L506F	probably benign	Het
Bltp3a	T	C	17: 28,112,474 (GRCm39)	L1221P	probably damaging	Het
Cfap65	A	T	1: 74,967,507 (GRCm39)	C190*	probably null	Het
Cib2	A	T	9: 54,457,170 (GRCm39)	H31Q	probably damaging	Het
Emb	A	G	13: 117,386,007 (GRCm39)		probably benign	Het
Eml6	T	C	11: 29,755,175 (GRCm39)	M867V	probably benign	Het
Flnc	A	T	6: 29,438,492 (GRCm39)	K129*	probably null	Het
Gckr	C	A	5: 31,465,134 (GRCm39)	H368N	possibly damaging	Het
Gmds	A	T	13: 32,409,145 (GRCm39)	Y106*	probably null	Het
Homez	T	C	14: 55,095,355 (GRCm39)	T118A	probably damaging	Het
Kcnh7	G	A	2: 62,667,507 (GRCm39)	T344I	probably benign	Het
Kcnt2	A	G	1: 140,279,007 (GRCm39)	I53V	probably benign	Het
Krt13	A	T	11: 100,010,539 (GRCm39)	L207Q	probably damaging	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Lrp2	A	C	2: 69,316,528 (GRCm39)	V2151G	possibly damaging	Het
Mrc2	A	G	11: 105,216,547 (GRCm39)	D112G	probably damaging	Het
Mrgpra6	T	C	7: 46,838,497 (GRCm39)	T234A	probably damaging	Het
Mroh2b	A	G	15: 4,941,482 (GRCm39)	N338S	probably benign	Het
Mrpl23	T	A	7: 142,089,802 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,741,073 (GRCm39)	N1442S	probably benign	Het
Nxn	A	G	11: 76,165,480 (GRCm39)		probably benign	Het
Or8w1	T	C	2: 87,465,424 (GRCm39)	I222M	possibly damaging	Het
Osmr	A	T	15: 6,858,144 (GRCm39)	N441K	probably benign	Het
Patl2	A	C	2: 121,952,327 (GRCm39)	S468R	probably damaging	Het
Pcdhb1	T	C	18: 37,399,575 (GRCm39)	S509P	probably damaging	Het
Pmp22	G	T	11: 63,049,134 (GRCm39)	V126F	probably benign	Het
Prom1	A	G	5: 44,186,946 (GRCm39)		probably benign	Het
Psd3	G	T	8: 68,416,521 (GRCm39)	H459N	probably benign	Het
Rasgrp1	A	G	2: 117,115,359 (GRCm39)	L743P	probably benign	Het
Rpusd4	G	A	9: 35,179,720 (GRCm39)	R71Q	probably damaging	Het
Rsf1	C	T	7: 97,313,977 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,318,725 (GRCm39)	T280A	possibly damaging	Het
Slc16a4	A	G	3: 107,210,415 (GRCm39)	I362V	probably benign	Het
Syt16	T	C	12: 74,313,616 (GRCm39)	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,559,735 (GRCm39)	V79A	possibly damaging	Het
Tenm2	A	G	11: 35,937,768 (GRCm39)	M1635T	probably benign	Het
Vmn1r195	A	G	13: 22,463,255 (GRCm39)	T242A	probably benign	Het
Zfp423	A	G	8: 88,508,136 (GRCm39)	V736A	probably damaging	Het

Other mutations in Prss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Prss1	APN	6	41,439,645 (GRCm39)	missense	possibly damaging	0.87
IGL00661:Prss1	APN	6	41,439,553 (GRCm39)	missense	possibly damaging	0.90
IGL02350:Prss1	APN	6	41,440,139 (GRCm39)	missense	probably damaging	0.96
IGL02357:Prss1	APN	6	41,440,139 (GRCm39)	missense	probably damaging	0.96
R0090:Prss1	UTSW	6	41,438,166 (GRCm39)	missense	probably benign	0.00
R0137:Prss1	UTSW	6	41,439,495 (GRCm39)	missense	probably damaging	1.00
R0143:Prss1	UTSW	6	41,440,522 (GRCm39)	missense	probably damaging	1.00
R0422:Prss1	UTSW	6	41,440,246 (GRCm39)	missense	probably damaging	1.00
R0792:Prss1	UTSW	6	41,435,878 (GRCm39)	start codon destroyed	probably null
R0939:Prss1	UTSW	6	41,440,522 (GRCm39)	missense	probably damaging	1.00
R2762:Prss1	UTSW	6	41,440,215 (GRCm39)	missense	possibly damaging	0.93
R2896:Prss1	UTSW	6	41,440,639 (GRCm39)	nonsense	probably null
R2915:Prss1	UTSW	6	41,439,545 (GRCm39)	missense	probably benign	0.11
R2959:Prss1	UTSW	6	41,440,172 (GRCm39)	missense	probably damaging	0.99
R5123:Prss1	UTSW	6	41,440,131 (GRCm39)	missense	possibly damaging	0.84
R5587:Prss1	UTSW	6	41,440,199 (GRCm39)	missense	possibly damaging	0.57
R5610:Prss1	UTSW	6	41,438,147 (GRCm39)	missense	probably benign	0.07
R6521:Prss1	UTSW	6	41,440,615 (GRCm39)	missense	probably damaging	1.00
R6788:Prss1	UTSW	6	41,440,654 (GRCm39)	missense	possibly damaging	0.46
R7199:Prss1	UTSW	6	41,439,690 (GRCm39)	missense	probably damaging	1.00
R7552:Prss1	UTSW	6	41,439,507 (GRCm39)	missense	probably benign	0.05
R8812:Prss1	UTSW	6	41,439,520 (GRCm39)	missense	probably benign	0.01
R9136:Prss1	UTSW	6	41,438,280 (GRCm39)	splice site	probably benign
R9255:Prss1	UTSW	6	41,438,183 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04