Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02960:Serpina16'

365311

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina16

Ensembl Gene

ENSMUSG00000071179

Gene Name

serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 16

Synonyms

LOC194604, Gm46

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL02960

Quality Score

Status

Chromosome

Chromosomal Location

103635067-103642398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103641638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 29 (T29I)

Ref Sequence

ENSEMBL: ENSMUSP00000126933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095451] [ENSMUST00000164148]

AlphaFold

D3Z660

Predicted Effect

probably benign
Transcript: ENSMUST00000095451
AA Change: T29I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093103
Gene: ENSMUSG00000071179
AA Change: T29I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SERPIN	52	407	6.36e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164148
AA Change: T29I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126933
Gene: ENSMUSG00000071179
AA Change: T29I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SERPIN	52	407	6.36e-68	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,257 (GRCm39)	R14C	probably benign	Het
Adam29	A	T	8: 56,325,701 (GRCm39)	L251*	probably null	Het
Atpaf2	T	C	11: 60,296,650 (GRCm39)	E161G	probably damaging	Het
Brwd1	T	C	16: 95,858,666 (GRCm39)	D381G	probably damaging	Het
Cept1	T	A	3: 106,446,712 (GRCm39)	R45*	probably null	Het
Col3a1	A	G	1: 45,367,615 (GRCm39)	E273G	unknown	Het
Cuzd1	T	C	7: 130,921,832 (GRCm39)	N57D	probably benign	Het
Cyp2b13	A	G	7: 25,761,101 (GRCm39)	K53E	probably benign	Het
Fadd	T	C	7: 144,134,276 (GRCm39)	E203G	probably benign	Het
Gm3159	G	A	14: 4,400,552 (GRCm38)		probably null	Het
Gpr137c	T	C	14: 45,483,890 (GRCm39)	F206L	possibly damaging	Het
Hephl1	G	T	9: 14,995,615 (GRCm39)	T471N	probably damaging	Het
Ido1	A	T	8: 25,083,345 (GRCm39)		probably benign	Het
Krt40	C	T	11: 99,430,693 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,285,797 (GRCm39)		probably benign	Het
Lrrc8a	T	A	2: 30,147,025 (GRCm39)	L613H	probably damaging	Het
Mettl14	A	G	3: 123,168,534 (GRCm39)	Y169H	probably damaging	Het
Nlrp4a	A	G	7: 26,149,155 (GRCm39)	Q254R	probably benign	Het
Or4c15	A	C	2: 88,760,128 (GRCm39)	M177R	possibly damaging	Het
Or7c70	A	T	10: 78,683,371 (GRCm39)	I126N	probably damaging	Het
Pira12	T	C	7: 3,900,078 (GRCm39)	T175A	possibly damaging	Het
Pkhd1	A	T	1: 20,447,670 (GRCm39)	M2241K	possibly damaging	Het
Ptprd	G	A	4: 76,047,105 (GRCm39)	S387L	probably damaging	Het
Ryr1	A	C	7: 28,759,478 (GRCm39)	L3264R	probably damaging	Het
Slc9a7	A	G	X: 20,052,382 (GRCm39)	M237T	probably benign	Het
Tbck	A	G	3: 132,428,544 (GRCm39)	T300A	probably benign	Het
Tcaf1	A	C	6: 42,663,393 (GRCm39)	D162E	probably benign	Het
Unc80	G	A	1: 66,717,217 (GRCm39)		probably benign	Het
Usp17le	A	C	7: 104,417,947 (GRCm39)	H398Q	probably benign	Het
Utp15	G	A	13: 98,389,389 (GRCm39)	T303M	probably benign	Het
Vmn2r86	A	C	10: 130,289,636 (GRCm39)	D86E	possibly damaging	Het
Zmym2	T	A	14: 57,175,870 (GRCm39)	C822S	probably benign	Het
Zp3r	T	C	1: 130,511,175 (GRCm39)	D336G	possibly damaging	Het
Zpr1	A	G	9: 46,184,849 (GRCm39)	H82R	probably damaging	Het

Other mutations in Serpina16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02230:Serpina16	APN	12	103,641,561 (GRCm39)	missense	probably damaging	1.00
R2086:Serpina16	UTSW	12	103,641,521 (GRCm39)	missense	probably damaging	1.00
R4092:Serpina16	UTSW	12	103,638,836 (GRCm39)	missense	probably benign	0.01
R5027:Serpina16	UTSW	12	103,641,262 (GRCm39)	nonsense	probably null
R5054:Serpina16	UTSW	12	103,641,189 (GRCm39)	missense	probably benign	0.08
R6736:Serpina16	UTSW	12	103,635,191 (GRCm39)	missense	possibly damaging	0.83
R7016:Serpina16	UTSW	12	103,641,630 (GRCm39)	missense	probably benign	0.00
R7283:Serpina16	UTSW	12	103,638,691 (GRCm39)	critical splice donor site	probably null
R8472:Serpina16	UTSW	12	103,638,796 (GRCm39)	missense	probably benign	0.09
R9701:Serpina16	UTSW	12	103,638,873 (GRCm39)	missense	probably benign	0.03
Z1177:Serpina16	UTSW	12	103,641,362 (GRCm39)	missense	probably benign	0.03

Posted On

2015-12-18