Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03351:Serpina6'

419713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina6

Ensembl Gene

ENSMUSG00000060807

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 6

Synonyms

Cbg

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

103646630-103657212 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103646913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 376 (I376N)

Ref Sequence

ENSEMBL: ENSMUSP00000044033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044159]

AlphaFold

Q06770

Predicted Effect

probably damaging
Transcript: ENSMUST00000044159
AA Change: I376N

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

SMART Domains

Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807
AA Change: I376N

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SERPIN	43	396	3.45e-160	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185363

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that belongs to the serpin (serine protease inhibitor) family. The encoded protein is an alpha-globulin with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors. [provided by RefSeq, Sep 2015]
PHENOTYPE: Null homozygotes exhibit reduced total plasma corticosterone, increased susceptibility to bacterial infection, attenuation of the stress-induced surge in free corticosterone, and enhanced behavioral response to intense or uncontrollable stress. They exhibit no locomotor sensitization to cocaine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,429	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,364,187	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Setx	T	G	2: 29,161,799	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,188,761	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Serpina6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Serpina6	APN	12	103651903	missense	probably damaging	1.00
IGL00910:Serpina6	APN	12	103651965	unclassified	probably benign
IGL01512:Serpina6	APN	12	103654059	missense	probably damaging	0.96
IGL02994:Serpina6	APN	12	103653951	missense	probably benign	0.03
IGL03092:Serpina6	APN	12	103653895	critical splice donor site	probably null
R0178:Serpina6	UTSW	12	103646913	missense	probably damaging	0.98
R0362:Serpina6	UTSW	12	103651949	missense	probably damaging	0.98
R0530:Serpina6	UTSW	12	103651794	missense	probably damaging	1.00
R1542:Serpina6	UTSW	12	103654473	missense	probably benign	0.09
R1573:Serpina6	UTSW	12	103651753	missense	probably damaging	1.00
R1764:Serpina6	UTSW	12	103653923	missense	probably damaging	1.00
R2243:Serpina6	UTSW	12	103646928	missense	probably benign	0.00
R2309:Serpina6	UTSW	12	103654179	missense	probably benign	0.00
R2363:Serpina6	UTSW	12	103648609	missense	probably benign	0.00
R3691:Serpina6	UTSW	12	103654409	missense	probably benign	0.00
R4492:Serpina6	UTSW	12	103646887	missense	probably damaging	1.00
R4498:Serpina6	UTSW	12	103654067	missense	probably benign	0.02
R4953:Serpina6	UTSW	12	103651962	critical splice acceptor site	probably null
R4985:Serpina6	UTSW	12	103653936	missense	probably benign	0.00
R5022:Serpina6	UTSW	12	103651712	missense	probably damaging	1.00
R5230:Serpina6	UTSW	12	103651898	missense	probably benign	0.18
R5318:Serpina6	UTSW	12	103653962	missense	possibly damaging	0.68
R5350:Serpina6	UTSW	12	103648579	missense	possibly damaging	0.68
R5569:Serpina6	UTSW	12	103654460	missense	possibly damaging	0.90
R5664:Serpina6	UTSW	12	103654467	missense	probably damaging	0.97
R5882:Serpina6	UTSW	12	103654235	missense	probably benign	0.00
R6275:Serpina6	UTSW	12	103648720	missense	probably benign	0.01
R6364:Serpina6	UTSW	12	103654236	missense	probably benign
R7173:Serpina6	UTSW	12	103646994	missense	possibly damaging	0.78
R7181:Serpina6	UTSW	12	103646944	missense	probably benign	0.00
R7725:Serpina6	UTSW	12	103648677	nonsense	probably null
R7811:Serpina6	UTSW	12	103654136	missense	probably damaging	1.00
R8418:Serpina6	UTSW	12	103646928	missense	probably damaging	0.98
R8770:Serpina6	UTSW	12	103653939	missense	probably benign	0.28
R8998:Serpina6	UTSW	12	103651729	missense	probably damaging	1.00
R8999:Serpina6	UTSW	12	103651729	missense	probably damaging	1.00

Posted On

2016-08-02