Mutagenetix > Incidental Mutation

Incidental Mutation 'R8770:Serpina6'

664368

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

068625-MU

Accession Numbers

Essential gene?

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

Stock #

R8770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103612889-103623471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103620198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 184 (S184G)

Ref Sequence

ENSEMBL: ENSMUSP00000044033 (fasta)

Gene Model

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

AlphaFold

Q06770

Predicted Effect

probably benign
Transcript: ENSMUST00000044159
AA Change: S184G

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807
AA Change: S184G

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,104,199 (GRCm39)		probably null	Het
Aox1	A	T	1: 58,378,763 (GRCm39)	K1004M	probably benign	Het
Atn1	C	T	6: 124,722,601 (GRCm39)		probably null	Het
Atp8b4	T	C	2: 126,184,915 (GRCm39)	Y916C	probably damaging	Het
Bicd1	T	C	6: 149,420,448 (GRCm39)	L766S	probably damaging	Het
Bmpr2	T	G	1: 59,884,684 (GRCm39)	D223E	probably benign	Het
Bpifc	T	G	10: 85,801,129 (GRCm39)	R406S	probably damaging	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cdcp1	A	T	9: 123,006,926 (GRCm39)	I607N	possibly damaging	Het
Cdyl2	T	C	8: 117,321,822 (GRCm39)	Y235C	probably damaging	Het
Clns1a	A	G	7: 97,363,117 (GRCm39)	Q163R	probably benign	Het
Cntn3	T	A	6: 102,254,277 (GRCm39)	M222L	possibly damaging	Het
Cpn1	A	G	19: 43,952,208 (GRCm39)	V358A	probably damaging	Het
Dchs1	G	A	7: 105,420,945 (GRCm39)	R492W	probably damaging	Het
Dmxl2	T	C	9: 54,311,298 (GRCm39)	T1808A	probably benign	Het
Dnah10	A	G	5: 124,852,410 (GRCm39)	I1880V	possibly damaging	Het
Dnai3	T	C	3: 145,752,298 (GRCm39)	T793A	probably benign	Het
Dscam	T	C	16: 96,456,106 (GRCm39)	E1274G	possibly damaging	Het
Dtwd1	A	G	2: 125,996,727 (GRCm39)	T71A	probably damaging	Het
Dusp4	T	A	8: 35,274,938 (GRCm39)	M19K	probably benign	Het
Fbxo39	T	C	11: 72,209,285 (GRCm39)	F382L	probably damaging	Het
Fbxw20	A	T	9: 109,046,596 (GRCm39)	C455S	probably benign	Het
Fcmr	T	A	1: 130,803,799 (GRCm39)	V201E	probably benign	Het
Galnt2	C	T	8: 125,061,025 (GRCm39)	R306*	probably null	Het
Gpr156	A	G	16: 37,824,974 (GRCm39)	E397G	possibly damaging	Het
Gzmf	A	T	14: 56,443,951 (GRCm39)	V73D	probably damaging	Het
Hrob	A	G	11: 102,145,976 (GRCm39)	N84S	probably benign	Het
Laptm4b	T	C	15: 34,258,843 (GRCm39)	V39A	possibly damaging	Het
Mlf2	C	A	6: 124,911,259 (GRCm39)	H91Q	probably benign	Het
Mylk3	T	A	8: 86,091,460 (GRCm39)	E115V	probably damaging	Het
Myo6	A	G	9: 80,171,481 (GRCm39)	E494G	unknown	Het
Myo7b	C	T	18: 32,114,124 (GRCm39)	D1076N	probably benign	Het
Neurl1b	A	G	17: 26,650,887 (GRCm39)	D53G	probably damaging	Het
Noc4l	A	G	5: 110,796,758 (GRCm39)	L508P	possibly damaging	Het
Nup210l	C	A	3: 90,025,850 (GRCm39)	F157L	probably damaging	Het
Ogdh	T	C	11: 6,305,336 (GRCm39)	Y959H	probably damaging	Het
Or13c7d	T	G	4: 43,770,813 (GRCm39)	N66T	probably damaging	Het
Or4a73	A	G	2: 89,421,171 (GRCm39)	M96T	probably benign	Het
Pik3ap1	A	G	19: 41,316,599 (GRCm39)	Y264H	possibly damaging	Het
Plb1	T	C	5: 32,404,853 (GRCm39)	Y4H	unknown	Het
Rad21	A	G	15: 51,831,749 (GRCm39)	I444T	probably benign	Het
Recql5	T	C	11: 115,787,943 (GRCm39)	I459V	probably benign	Het
Scaf1	T	C	7: 44,656,129 (GRCm39)	T917A	unknown	Het
Sdc4	C	T	2: 164,270,822 (GRCm39)	V146I	probably damaging	Het
Shkbp1	C	A	7: 27,051,311 (GRCm39)	R218S	possibly damaging	Het
Slc17a3	A	G	13: 24,039,607 (GRCm39)	D255G		Het
Slc7a2	T	G	8: 41,352,267 (GRCm39)	V110G	probably damaging	Het
Slf1	A	C	13: 77,194,766 (GRCm39)	V853G	probably damaging	Het
Smarcad1	T	C	6: 65,029,718 (GRCm39)	V102A	probably benign	Het
Sobp	T	C	10: 43,036,788 (GRCm39)	K50R	probably damaging	Het
Spink10	A	T	18: 62,786,532 (GRCm39)	R47S	probably benign	Het
Sspo	T	A	6: 48,451,206 (GRCm39)	F2720Y	probably null	Het
Tdrkh	T	A	3: 94,336,440 (GRCm39)	V459D	probably damaging	Het
Tent5a	A	G	9: 85,208,803 (GRCm39)	Y7H	probably benign	Het
Tlcd2	T	A	11: 75,360,630 (GRCm39)	D224E	probably damaging	Het
Tln2	T	A	9: 67,230,304 (GRCm39)	Q87L	probably benign	Het
Tmem131	A	T	1: 36,838,186 (GRCm39)		probably benign	Het
Tmem63a	G	A	1: 180,789,961 (GRCm39)	G378R	probably benign	Het
Trank1	C	A	9: 111,219,892 (GRCm39)	Q2210K	probably benign	Het
Trim24	T	A	6: 37,934,435 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,050,675 (GRCm39)	I238N	probably damaging	Het
Vps39	A	T	2: 120,153,548 (GRCm39)	D675E	probably benign	Het
Zfp229	T	A	17: 21,964,795 (GRCm39)	C342S	probably damaging	Het
Zfp759	A	G	13: 67,288,417 (GRCm39)	H656R	probably damaging	Het
Zfp994	T	C	17: 22,419,980 (GRCm39)	Y323C	probably damaging	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
R6275:Serpina6	UTSW	12	103,614,979 (GRCm39)	missense	probably benign	0.01
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
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'- CAACCTGGTAGAGACTGGCATG -3'
(R):5'- GCTTGGAGATGAACATGGGC -3'

Sequencing Primer
(F):5'- CATGTGTTAGGGGGCAGGACC -3'
(R):5'- CATGGGCAATGTCATGTTCC -3'

Posted On

2021-03-08