Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:Serpina6'

418430

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: 0.073) question?

Stock #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

103646630-103657212 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 103653895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044159] [ENSMUST00000152517]

AlphaFold

Q06770

Predicted Effect

probably null
Transcript: ENSMUST00000044159

SMART Domains

Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152517

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470	L491P	probably damaging	Het
5430419D17Rik	G	T	7: 131,201,798		probably null	Het
Abcc6	T	A	7: 45,986,470	D1051V	probably damaging	Het
Aqr	T	A	2: 114,158,943	E133V	probably benign	Het
Bag6	A	G	17: 35,145,627	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204		probably benign	Het
Clec3b	A	T	9: 123,151,035		probably benign	Het
Cnot1	T	C	8: 95,769,615		probably benign	Het
Ctsg	T	A	14: 56,099,960	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976		probably benign	Het
Dcun1d1	G	T	3: 35,920,992	Q52K	possibly damaging	Het
Ddb1	C	T	19: 10,612,945	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216		probably benign	Het
Dsel	A	G	1: 111,860,063	L914P	probably damaging	Het
Fbxo31	A	G	8: 121,560,018	F174L	probably benign	Het
Gm9116	A	G	3: 93,910,206		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529		probably benign	Het
Klf13	A	G	7: 63,891,669	F237L	probably damaging	Het
Mon2	A	T	10: 123,018,100	I962N	probably damaging	Het
Nfx1	A	G	4: 41,024,851	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647	I123F	probably damaging	Het
Pde3b	A	T	7: 114,523,348	H717L	probably damaging	Het
Polr1b	T	C	2: 129,123,129	Y712H	probably damaging	Het
Pramef25	C	A	4: 143,950,197	K112N	probably damaging	Het
Rnf157	T	A	11: 116,347,969		probably null	Het
Ros1	T	C	10: 52,098,806	E1561G	probably damaging	Het
St18	A	G	1: 6,768,894		probably benign	Het
Ugp2	A	G	11: 21,329,722		probably benign	Het
Vmn1r70	T	C	7: 10,634,259	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516	D161G	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
IGL03351:Serpina6	APN	12	103646913	missense	probably damaging	1.00
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