Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Pi16'

601967

Institutional Source

Beutler Lab

Gene Symbol

Pi16

Ensembl Gene

ENSMUSG00000024011

Gene Name

peptidase inhibitor 16

Synonyms

1200009H11Rik

MMRRC Submission

045876-MU

Accession Numbers

Essential gene?

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

Stock #

R7822 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29537770-29547876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29538208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 7 (P7Q)

Ref Sequence

ENSEMBL: ENSMUSP00000110349 (fasta)

Gene Model

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

AlphaFold

Q9ET66

Predicted Effect

probably benign
Transcript: ENSMUST00000114699
AA Change: P7Q

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110347
Gene: ENSMUSG00000024011
AA Change: P7Q

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: P7Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110349
Gene: ENSMUSG00000024011
AA Change: P7Q

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: ENSMUST00000155348

SMART Domains

Protein: ENSMUSP00000116183
Gene: ENSMUSG00000024011

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,885,524 (GRCm39)	S551L	possibly damaging	Het
Ash1l	T	C	3: 88,914,571 (GRCm39)	S1734P	probably benign	Het
Btnl2	T	A	17: 34,582,288 (GRCm39)	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,202,970 (GRCm39)	D364G	possibly damaging	Het
Card6	T	A	15: 5,128,347 (GRCm39)	K1016N	possibly damaging	Het
Cdh2	G	T	18: 16,757,341 (GRCm39)	N692K	probably benign	Het
Cep76	G	T	18: 67,774,219 (GRCm39)	S9*	probably null	Het
Cklf	T	C	8: 104,977,729 (GRCm39)		probably null	Het
Ctsa	T	C	2: 164,681,152 (GRCm39)	*475R	probably null	Het
Dapk1	A	C	13: 60,873,715 (GRCm39)	D406A	probably benign	Het
Ddx4	A	T	13: 112,748,647 (GRCm39)	V443D	probably damaging	Het
Dph5	C	T	3: 115,693,399 (GRCm39)	Q106*	probably null	Het
Drg2	C	T	11: 60,353,026 (GRCm39)	R220*	probably null	Het
Efcab8	A	T	2: 153,652,832 (GRCm39)	Q509L	unknown	Het
Efs	C	T	14: 55,154,907 (GRCm39)	S444N	probably benign	Het
Evl	T	C	12: 108,614,723 (GRCm39)	V58A	probably damaging	Het
Garin3	A	G	11: 46,295,730 (GRCm39)	N34S		Het
Gbe1	G	A	16: 70,230,500 (GRCm39)	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,785 (GRCm39)	E516G	probably damaging	Het
Ghr	T	C	15: 3,487,439 (GRCm39)	T15A	probably benign	Het
Gnb4	G	A	3: 32,650,480 (GRCm39)	T50M	probably damaging	Het
Grik3	T	C	4: 125,550,190 (GRCm39)		probably null	Het
Gstk1	T	C	6: 42,224,686 (GRCm39)	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,685,404 (GRCm39)	I846F	probably damaging	Het
Itga7	A	G	10: 128,778,835 (GRCm39)	T321A	probably benign	Het
Jakmip1	A	T	5: 37,332,524 (GRCm39)	N1068I	probably damaging	Het
Krt36	A	G	11: 99,994,966 (GRCm39)	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,170,070 (GRCm39)	L741P	probably damaging	Het
Mctp2	T	C	7: 71,776,935 (GRCm39)	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,790,956 (GRCm39)	K115*	probably null	Het
Mtf2	C	T	5: 108,228,743 (GRCm39)	R20*	probably null	Het
Mycbp2	T	G	14: 103,376,851 (GRCm39)	Q3810P	probably benign	Het
Myom2	A	T	8: 15,158,454 (GRCm39)	H802L	probably benign	Het
Naa25	A	G	5: 121,545,276 (GRCm39)	N27D	probably damaging	Het
Necab2	T	C	8: 120,181,103 (GRCm39)	F126L	probably damaging	Het
Nisch	C	G	14: 30,896,608 (GRCm39)		probably benign	Het
Nsd2	T	A	5: 34,000,938 (GRCm39)	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,180,483 (GRCm39)	L263P	probably damaging	Het
Nup210	A	G	6: 90,995,759 (GRCm39)	V922A	possibly damaging	Het
Or12d17	T	A	17: 37,777,994 (GRCm39)	M299K	probably benign	Het
Or5b105	T	A	19: 13,080,417 (GRCm39)	I84F	probably benign	Het
Or5d45	A	C	2: 88,153,425 (GRCm39)	I208S	probably benign	Het
Pccb	C	A	9: 100,909,137 (GRCm39)	C144F	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Prdm1	A	G	10: 44,334,478 (GRCm39)	V16A	probably benign	Het
Prr5	A	C	15: 84,649,933 (GRCm39)	Y219S	probably damaging	Het
Psme4	A	G	11: 30,824,245 (GRCm39)	D1743G	probably benign	Het
Rad21l	G	T	2: 151,497,045 (GRCm39)	D356E	probably benign	Het
Rars1	A	G	11: 35,710,793 (GRCm39)	I322T	probably damaging	Het
Retreg2	C	A	1: 75,123,185 (GRCm39)	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,770,059 (GRCm39)	Y559C	probably damaging	Het
Ror1	T	C	4: 100,298,564 (GRCm39)	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,481,373 (GRCm39)	S45P	probably benign	Het
Sacs	G	C	14: 61,429,652 (GRCm39)	K570N	probably benign	Het
Serpinb8	C	T	1: 107,534,723 (GRCm39)	Q265*	probably null	Het
Sgo2b	T	C	8: 64,380,318 (GRCm39)	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,540,568 (GRCm39)	R141K	probably damaging	Het
Strc	G	T	2: 121,208,219 (GRCm39)	T384N	probably benign	Het
Tcaf2	T	C	6: 42,606,033 (GRCm39)	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,200,792 (GRCm39)	N243S	possibly damaging	Het
Tgm3	A	G	2: 129,883,819 (GRCm39)	I492M	probably benign	Het
Tgm7	G	A	2: 120,934,421 (GRCm39)	T157I	probably benign	Het
Trnp1	C	A	4: 133,225,350 (GRCm39)	R140L	possibly damaging	Het
Ttn	A	G	2: 76,609,777 (GRCm39)	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,283,762 (GRCm39)	S102T	probably benign	Het
Vav2	A	T	2: 27,172,299 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,686,241 (GRCm39)	I59F	probably damaging	Het
Yju2b	T	C	8: 84,988,411 (GRCm39)	E72G	probably damaging	Het
Zfp109	T	C	7: 23,928,570 (GRCm39)	T288A	probably benign	Het
Zscan12	T	A	13: 21,553,374 (GRCm39)	H399Q	probably damaging	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
R0507:Pi16	UTSW	17	29,546,826 (GRCm39)	missense	possibly damaging	0.92
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
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'- TGGATTCTGCTCTGGTCCAGAC -3'
(R):5'- AGTCTTGACAGAGCATCCCC -3'

Sequencing Primer
(F):5'- GGTCCAGACCCAAGGCAC -3'
(R):5'- TTCAGGCCCAGGAGGTG -3'

Posted On

2019-12-03