Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Serpina6'

170984

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

039612-MU

Accession Numbers

Essential gene?

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

Stock #

R1573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103612889-103623471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103618012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 267 (D267G)

Ref Sequence

ENSEMBL: ENSMUSP00000044033 (fasta)

Gene Model

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

AlphaFold

Q06770

Predicted Effect

probably damaging
Transcript: ENSMUST00000044159
AA Change: D267G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807
AA Change: D267G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,004,445 (GRCm39)		probably benign	Het
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Auts2	T	C	5: 131,469,325 (GRCm39)	K664R	probably damaging	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Fndc3a	C	A	14: 72,806,384 (GRCm39)	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,880,863 (GRCm39)	R251G	possibly damaging	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,546,754 (GRCm39)	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,660,500 (GRCm39)	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Tmcc1	C	T	6: 116,110,924 (GRCm39)	S123N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Wwp2	C	T	8: 108,275,121 (GRCm39)	R373W	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	probably benign	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
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
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'- TGCATTGTGCTTTACAGAGGACCC -3'
(R):5'- TGATGATCTGCTGACCCAGAAGAGG -3'

Sequencing Primer
(F):5'- CAGGTTAGAGAACCTTACAGCCTATG -3'
(R):5'- GGAATATGGAAACTTCCCTTCAGC -3'

Posted On

2014-04-13