Mutagenetix > Incidental Mutation

Incidental Mutation 'R6275:Serpina6'

507598

Institutional Source

Beutler Lab

Gene Symbol

Serpina6

Ensembl Gene

ENSMUSG00000060807

Gene Name

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

Synonyms

Cbg

MMRRC Submission

044445-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103612889-103623471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103614979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 289 (Q289L)

Ref Sequence

ENSEMBL: ENSMUSP00000044033 (fasta)

Gene Model

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

AlphaFold

Q06770

Predicted Effect

probably benign
Transcript: ENSMUST00000044159
AA Change: Q289L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807
AA Change: Q289L

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

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,833,625 (GRCm39)	L30H	probably damaging	Het
Abcb6	T	C	1: 75,149,195 (GRCm39)		probably null	Het
Acsbg1	T	A	9: 54,517,056 (GRCm39)	M586L	probably benign	Het
Ano6	A	T	15: 95,811,314 (GRCm39)	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,830,575 (GRCm39)	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,531,519 (GRCm39)	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,036,489 (GRCm39)	M144I	probably damaging	Het
Cdca3	C	T	6: 124,809,627 (GRCm39)		probably null	Het
Ces1h	A	T	8: 94,099,274 (GRCm39)	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216 (GRCm39)	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,440,859 (GRCm39)	P126T	probably benign	Het
Dnah10	A	G	5: 124,862,248 (GRCm39)	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,269,311 (GRCm39)	N1147Y	possibly damaging	Het
Eif1ad15	T	C	12: 88,287,995 (GRCm39)	D86G	possibly damaging	Het
Eif1ad16	T	C	12: 87,985,255 (GRCm39)	N96S	probably benign	Het
Ermap	C	T	4: 119,035,747 (GRCm39)	V414M	probably damaging	Het
Fam13a	A	G	6: 58,931,242 (GRCm39)	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,896,153 (GRCm39)	H155R	possibly damaging	Het
Folr1	T	A	7: 101,508,742 (GRCm39)	N61I	probably damaging	Het
Fsip1	T	C	2: 118,035,583 (GRCm39)	I431V	probably benign	Het
Gm5493	A	T	17: 22,969,043 (GRCm39)	E74D	probably benign	Het
H2-Oa	A	G	17: 34,313,540 (GRCm39)	D197G	probably benign	Het
Hps1	T	C	19: 42,758,046 (GRCm39)	E169G	probably null	Het
Il17rc	A	T	6: 113,457,308 (GRCm39)	M372L	probably benign	Het
Itga10	A	G	3: 96,565,501 (GRCm39)	S1042G	probably benign	Het
Jchain	A	T	5: 88,669,212 (GRCm39)	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,473 (GRCm39)	T211A	probably benign	Het
Mal2	T	C	15: 54,435,035 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,910,823 (GRCm39)	I1071N	probably damaging	Het
Mpp2	T	A	11: 101,951,795 (GRCm39)	Y401F	probably damaging	Het
Myh15	A	G	16: 48,965,610 (GRCm39)	T1172A	probably benign	Het
Or51q1	T	A	7: 103,629,181 (GRCm39)	S261T	probably damaging	Het
Pcnx1	G	T	12: 81,965,381 (GRCm39)	S516I	probably benign	Het
Pidd1	C	T	7: 141,019,708 (GRCm39)	A685T	probably damaging	Het
Psg28	A	C	7: 18,164,365 (GRCm39)	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,329,458 (GRCm39)		probably benign	Het
Rapgefl1	T	A	11: 98,741,946 (GRCm39)	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,691,206 (GRCm39)	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408 (GRCm39)	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,863,985 (GRCm39)	Q89R	probably damaging	Het
Sf3b2	A	C	19: 5,333,678 (GRCm39)	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc26a11	T	C	11: 119,250,125 (GRCm39)	F127L	probably benign	Het
Spata31h1	T	C	10: 82,121,202 (GRCm39)	D3936G	probably damaging	Het
Stac3	T	A	10: 127,343,615 (GRCm39)	Y252*	probably null	Het
Stoml3	G	A	3: 53,414,927 (GRCm39)	A240T	probably damaging	Het
Tanc1	A	T	2: 59,673,854 (GRCm39)	H1653L	probably benign	Het
Tll1	A	T	8: 64,504,401 (GRCm39)	L665*	probably null	Het
Tnr	A	C	1: 159,688,840 (GRCm39)	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,511,354 (GRCm39)	D165E	probably benign	Het
Tsc2	A	G	17: 24,819,394 (GRCm39)	V1185A	probably benign	Het
Tulp4	A	G	17: 6,249,011 (GRCm39)	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,261,980 (GRCm39)	M72K	possibly damaging	Het
Usp42	G	A	5: 143,700,727 (GRCm39)	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883 (GRCm39)	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,418,972 (GRCm39)	L659*	probably null	Het

Other mutations in Serpina6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Serpina6	APN	12	103,618,162 (GRCm39)	missense	probably damaging	1.00
IGL00910:Serpina6	APN	12	103,618,224 (GRCm39)	unclassified	probably benign
IGL01512:Serpina6	APN	12	103,620,318 (GRCm39)	missense	probably damaging	0.96
IGL02994:Serpina6	APN	12	103,620,210 (GRCm39)	missense	probably benign	0.03
IGL03092:Serpina6	APN	12	103,620,154 (GRCm39)	critical splice donor site	probably null
IGL03351:Serpina6	APN	12	103,613,172 (GRCm39)	missense	probably damaging	1.00
R0178:Serpina6	UTSW	12	103,613,172 (GRCm39)	missense	probably damaging	0.98
R0362:Serpina6	UTSW	12	103,618,208 (GRCm39)	missense	probably damaging	0.98
R0530:Serpina6	UTSW	12	103,618,053 (GRCm39)	missense	probably damaging	1.00
R1542:Serpina6	UTSW	12	103,620,732 (GRCm39)	missense	probably benign	0.09
R1573:Serpina6	UTSW	12	103,618,012 (GRCm39)	missense	probably damaging	1.00
R1764:Serpina6	UTSW	12	103,620,182 (GRCm39)	missense	probably damaging	1.00
R2243:Serpina6	UTSW	12	103,613,187 (GRCm39)	missense	probably benign	0.00
R2309:Serpina6	UTSW	12	103,620,438 (GRCm39)	missense	probably benign	0.00
R2363:Serpina6	UTSW	12	103,614,868 (GRCm39)	missense	probably benign	0.00
R3691:Serpina6	UTSW	12	103,620,668 (GRCm39)	missense	probably benign	0.00
R4492:Serpina6	UTSW	12	103,613,146 (GRCm39)	missense	probably damaging	1.00
R4498:Serpina6	UTSW	12	103,620,326 (GRCm39)	missense	probably benign	0.02
R4953:Serpina6	UTSW	12	103,618,221 (GRCm39)	critical splice acceptor site	probably null
R4985:Serpina6	UTSW	12	103,620,195 (GRCm39)	missense	probably benign	0.00
R5022:Serpina6	UTSW	12	103,617,971 (GRCm39)	missense	probably damaging	1.00
R5230:Serpina6	UTSW	12	103,618,157 (GRCm39)	missense	probably benign	0.18
R5318:Serpina6	UTSW	12	103,620,221 (GRCm39)	missense	possibly damaging	0.68
R5350:Serpina6	UTSW	12	103,614,838 (GRCm39)	missense	possibly damaging	0.68
R5569:Serpina6	UTSW	12	103,620,719 (GRCm39)	missense	possibly damaging	0.90
R5664:Serpina6	UTSW	12	103,620,726 (GRCm39)	missense	probably damaging	0.97
R5882:Serpina6	UTSW	12	103,620,494 (GRCm39)	missense	probably benign	0.00
R6364:Serpina6	UTSW	12	103,620,495 (GRCm39)	missense	probably benign
R7173:Serpina6	UTSW	12	103,613,253 (GRCm39)	missense	possibly damaging	0.78
R7181:Serpina6	UTSW	12	103,613,203 (GRCm39)	missense	probably benign	0.00
R7725:Serpina6	UTSW	12	103,614,936 (GRCm39)	nonsense	probably null
R7811:Serpina6	UTSW	12	103,620,395 (GRCm39)	missense	probably damaging	1.00
R8418:Serpina6	UTSW	12	103,613,187 (GRCm39)	missense	probably damaging	0.98
R8770:Serpina6	UTSW	12	103,620,198 (GRCm39)	missense	probably benign	0.28
R8998:Serpina6	UTSW	12	103,617,988 (GRCm39)	missense	probably damaging	1.00
R8999:Serpina6	UTSW	12	103,617,988 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAATGGGATGTGTTGCTTAC -3'
(R):5'- CTCTTGAAAGGGATCATCCAGG -3'

Sequencing Primer
(F):5'- TTAGTGTAGATTTTGGAGAAAGGCTC -3'
(R):5'- GGATCATCCAGGGGATACTTTCC -3'

Posted On

2018-03-15