Mutagenetix > Incidental Mutation

Incidental Mutation 'R0507:Pi16'

47697

Institutional Source

Beutler Lab

Gene Symbol

Pi16

Ensembl Gene

ENSMUSG00000024011

Gene Name

peptidase inhibitor 16

Synonyms

1200009H11Rik

MMRRC Submission

038702-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29537770-29547876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29546826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 467 (E467K)

Ref Sequence

ENSEMBL: ENSMUSP00000110349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095427] [ENSMUST00000114699] [ENSMUST00000114701] [ENSMUST00000118366]

AlphaFold

Q9ET66

Predicted Effect

probably benign
Transcript: ENSMUST00000095427

SMART Domains

Protein: ENSMUSP00000093077
Gene: ENSMUSG00000024012

Domain	Start	End	E-Value	Type
low complexity region	9	64	N/A	INTRINSIC
Pfam:Mito_carr	191	282	4e-10	PFAM
transmembrane domain	315	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114699
AA Change: E238K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110347
Gene: ENSMUSG00000024011
AA Change: E238K

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
SCP	33	175	7.72e-52	SMART
low complexity region	255	265	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114701
AA Change: E467K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110349
Gene: ENSMUSG00000024011
AA Change: E467K

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
SCP	33	175	7.72e-52	SMART
low complexity region	363	410	N/A	INTRINSIC
low complexity region	484	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118366

SMART Domains

Protein: ENSMUSP00000113021
Gene: ENSMUSG00000024012

Domain	Start	End	E-Value	Type
low complexity region	9	64	N/A	INTRINSIC
Pfam:Mito_carr	191	282	3.7e-10	PFAM
transmembrane domain	298	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135754

Predicted Effect

unknown
Transcript: ENSMUST00000155348
AA Change: E198K

SMART Domains

Protein: ENSMUSP00000116183
Gene: ENSMUSG00000024011
AA Change: E198K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
SCP	27	169	7.72e-52	SMART
low complexity region	216	226	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibited numerous immunological abnormalities during tissue-specific FACS analyses including an increased percentage of CD25+ cells in lymph node and B cell compartment differences in bone marrow spleen and lymph node. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,838,655 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,916,766 (GRCm39)	D742G	probably benign	Het
Akap9	G	A	5: 4,119,043 (GRCm39)	E3517K	probably benign	Het
Arfgef3	T	C	10: 18,467,369 (GRCm39)	T1944A	probably damaging	Het
Bsx	A	G	9: 40,787,796 (GRCm39)		probably benign	Het
Cct2	A	T	10: 116,891,151 (GRCm39)		probably null	Het
Cdkl4	T	C	17: 80,851,237 (GRCm39)	D155G	probably benign	Het
Cep250	C	T	2: 155,834,452 (GRCm39)	R2126C	possibly damaging	Het
Cep97	A	T	16: 55,726,245 (GRCm39)		probably benign	Het
Cpne3	C	T	4: 19,532,544 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 16,235,358 (GRCm39)		probably benign	Het
Cx3cr1	C	A	9: 119,881,022 (GRCm39)	D127Y	probably damaging	Het
Dcdc2a	A	G	13: 25,286,572 (GRCm39)	Q165R	probably damaging	Het
Ddx17	A	G	15: 79,421,758 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,657,917 (GRCm39)	S1886P	probably damaging	Het
Egf	T	C	3: 129,474,828 (GRCm39)	D571G	possibly damaging	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gbp2	G	T	3: 142,335,794 (GRCm39)	D165Y	probably damaging	Het
Gm14412	A	T	2: 177,006,325 (GRCm39)	N523K	possibly damaging	Het
Gsap	C	T	5: 21,474,961 (GRCm39)	T540I	possibly damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Icam4	C	A	9: 20,940,799 (GRCm39)	P17Q	possibly damaging	Het
Lyz1	A	T	10: 117,125,022 (GRCm39)		probably null	Het
Matcap1	T	C	8: 106,011,351 (GRCm39)	N261S	probably damaging	Het
Mbd6	A	G	10: 127,119,389 (GRCm39)		probably benign	Het
Mroh3	A	T	1: 136,118,718 (GRCm39)	I533N	probably damaging	Het
Muc4	A	T	16: 32,569,887 (GRCm39)	M316L	probably benign	Het
Myof	A	G	19: 37,889,725 (GRCm39)	I1282T	possibly damaging	Het
Ncald	T	G	15: 37,397,528 (GRCm39)	I51L	probably benign	Het
Negr1	T	A	3: 156,267,862 (GRCm39)	S11T	probably damaging	Het
Obscn	T	C	11: 58,920,167 (GRCm39)	N6735D	probably damaging	Het
Or52n4b	T	C	7: 108,144,292 (GRCm39)	S185P	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or6c1b	A	T	10: 129,273,157 (GRCm39)	M159L	probably benign	Het
Or9q1	T	A	19: 13,805,140 (GRCm39)	I207F	possibly damaging	Het
Otogl	A	G	10: 107,702,601 (GRCm39)	V684A	possibly damaging	Het
Palm3	A	G	8: 84,754,958 (GRCm39)	T157A	probably benign	Het
Pard3	T	A	8: 128,097,967 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,457,129 (GRCm39)	D1302G	probably damaging	Het
Plec	A	T	15: 76,056,983 (GRCm39)	I4183N	probably damaging	Het
Ppp1r13l	T	C	7: 19,109,739 (GRCm39)	L720P	possibly damaging	Het
Prag1	A	G	8: 36,571,277 (GRCm39)	E620G	probably damaging	Het
Ralbp1	G	A	17: 66,156,955 (GRCm39)	T646M	probably benign	Het
Rnf182	T	G	13: 43,821,823 (GRCm39)	S125A	probably benign	Het
Rpe	C	T	1: 66,754,300 (GRCm39)	T124I	probably benign	Het
Rufy4	T	C	1: 74,185,875 (GRCm39)	I514T	probably benign	Het
Sec13	A	T	6: 113,712,080 (GRCm39)	I85N	probably damaging	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Skint5	T	C	4: 113,425,127 (GRCm39)		probably null	Het
Slc4a3	T	A	1: 75,532,725 (GRCm39)	I995K	probably damaging	Het
Smyd4	T	A	11: 75,290,534 (GRCm39)	S545T	possibly damaging	Het
Steap3	C	T	1: 120,169,313 (GRCm39)	R328H	possibly damaging	Het
Tgm6	G	A	2: 129,980,751 (GRCm39)	E183K	possibly damaging	Het
Themis	T	A	10: 28,657,828 (GRCm39)	V132E	possibly damaging	Het
Thsd1	T	A	8: 22,748,695 (GRCm39)	I461N	probably damaging	Het
Ttk	T	G	9: 83,750,120 (GRCm39)	S692A	probably damaging	Het
Twf1	A	G	15: 94,483,411 (GRCm39)	M99T	probably damaging	Het
Uchl3	T	A	14: 101,904,443 (GRCm39)	L89*	probably null	Het
Uhmk1	A	G	1: 170,034,760 (GRCm39)	V316A	probably damaging	Het
Unc80	A	G	1: 66,567,052 (GRCm39)	N886S	possibly damaging	Het
Vash2	G	T	1: 190,699,115 (GRCm39)		probably benign	Het
Vmn1r200	G	A	13: 22,579,718 (GRCm39)	E174K	probably benign	Het
Vps16	T	C	2: 130,279,632 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,541,594 (GRCm39)	E316G	possibly damaging	Het
Xpo1	T	C	11: 23,244,682 (GRCm39)	V1020A	possibly damaging	Het
Ylpm1	T	A	12: 85,075,886 (GRCm39)	N870K	probably benign	Het
Zfhx4	C	T	3: 5,466,048 (GRCm39)	Q2069*	probably null	Het
Zfp1005	T	A	2: 150,110,044 (GRCm39)	C245S	possibly damaging	Het
Zfp512b	C	A	2: 181,226,757 (GRCm39)		probably benign	Het

Other mutations in Pi16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01725:Pi16	APN	17	29,545,294 (GRCm39)	missense	probably damaging	1.00
IGL02238:Pi16	APN	17	29,545,269 (GRCm39)	missense	probably damaging	0.99
R0276:Pi16	UTSW	17	29,545,917 (GRCm39)	missense	probably benign	0.02
R0570:Pi16	UTSW	17	29,538,189 (GRCm39)	start codon destroyed	possibly damaging	0.54
R1834:Pi16	UTSW	17	29,546,419 (GRCm39)	missense	possibly damaging	0.89
R1845:Pi16	UTSW	17	29,538,361 (GRCm39)	missense	possibly damaging	0.91
R5670:Pi16	UTSW	17	29,545,870 (GRCm39)	missense	probably damaging	0.99
R6223:Pi16	UTSW	17	29,546,413 (GRCm39)	nonsense	probably null
R7097:Pi16	UTSW	17	29,545,313 (GRCm39)	missense	probably damaging	1.00
R7122:Pi16	UTSW	17	29,545,313 (GRCm39)	missense	probably damaging	1.00
R7200:Pi16	UTSW	17	29,538,208 (GRCm39)	missense	possibly damaging	0.83
R7215:Pi16	UTSW	17	29,538,072 (GRCm39)	unclassified	probably benign
R7219:Pi16	UTSW	17	29,538,208 (GRCm39)	missense	possibly damaging	0.83
R7220:Pi16	UTSW	17	29,538,208 (GRCm39)	missense	possibly damaging	0.83
R7278:Pi16	UTSW	17	29,538,208 (GRCm39)	missense	possibly damaging	0.83
R7318:Pi16	UTSW	17	29,538,208 (GRCm39)	missense	possibly damaging	0.83
R7822:Pi16	UTSW	17	29,538,208 (GRCm39)	missense	possibly damaging	0.83
R8254:Pi16	UTSW	17	29,538,208 (GRCm39)	missense	possibly damaging	0.83
R8265:Pi16	UTSW	17	29,545,947 (GRCm39)	missense	probably benign	0.01
R8386:Pi16	UTSW	17	29,538,208 (GRCm39)	missense	possibly damaging	0.83
R9368:Pi16	UTSW	17	29,546,852 (GRCm39)	missense	probably benign	0.15
R9420:Pi16	UTSW	17	29,544,899 (GRCm39)	missense	probably damaging	1.00
R9649:Pi16	UTSW	17	29,538,363 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGTGCTTCGGGTAATGCCACAG -3'
(R):5'- ATTCCAGAATGGGCATGAGGCCAG -3'

Sequencing Primer
(F):5'- TCATCCTGGACAGGTAAGGC -3'
(R):5'- ATGAGGCCAGTCTCCTCAC -3'

Posted On

2013-06-12