Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02230:Serpina16'

285658

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

Gm46, LOC194604

Accession Numbers

Essential gene?

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

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

103668808-103676139 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103675302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 55 (Y55H)

Ref Sequence

ENSEMBL: ENSMUSP00000126933 (fasta)

Gene Model

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

AlphaFold

D3Z660

Predicted Effect

probably damaging
Transcript: ENSMUST00000095451
AA Change: Y55H

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

SMART Domains

Protein: ENSMUSP00000093103
Gene: ENSMUSG00000071179
AA Change: Y55H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164148
AA Change: Y55H

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

SMART Domains

Protein: ENSMUSP00000126933
Gene: ENSMUSG00000071179
AA Change: Y55H

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,171,830	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,433,996	I374F	probably damaging	Het
Ecel1	T	C	1: 87,152,194	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450	D249E	probably damaging	Het
Hsd17b12	A	G	2: 94,045,398	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,518,645	S947P	probably damaging	Het
Kng1	G	T	16: 23,060,494		probably null	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,880	K245N	probably damaging	Het
Mdga2	G	A	12: 66,655,423	R335*	probably null	Het
Naa16	A	T	14: 79,377,361		probably benign	Het
Ncbp1	C	A	4: 46,165,272	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042	M82K	probably damaging	Het
Olfr714	A	G	7: 107,074,493	I222V	probably damaging	Het
Pipox	A	G	11: 77,881,206	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,912,091	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026	I589T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034	I815V	possibly damaging	Het
Sirt2	C	T	7: 28,778,946	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971		probably null	Het
Stmn1	A	G	4: 134,472,913	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Serpina16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02960:Serpina16	APN	12	103675379	missense	probably benign	0.13
R2086:Serpina16	UTSW	12	103675262	missense	probably damaging	1.00
R4092:Serpina16	UTSW	12	103672577	missense	probably benign	0.01
R5027:Serpina16	UTSW	12	103675003	nonsense	probably null
R5054:Serpina16	UTSW	12	103674930	missense	probably benign	0.08
R6736:Serpina16	UTSW	12	103668932	missense	possibly damaging	0.83
R7016:Serpina16	UTSW	12	103675371	missense	probably benign	0.00
R7283:Serpina16	UTSW	12	103672432	critical splice donor site	probably null
R8472:Serpina16	UTSW	12	103672537	missense	probably benign	0.09
R9701:Serpina16	UTSW	12	103672614	missense	probably benign	0.03
Z1177:Serpina16	UTSW	12	103675103	missense	probably benign	0.03

Posted On

2015-04-16