Mutagenetix > Incidental Mutation

Incidental Mutation 'R4685:Serpinb6d'

353633

Institutional Source

Beutler Lab

Gene Symbol

Serpinb6d

Ensembl Gene

ENSMUSG00000047889

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 6d

Synonyms

SPI3D, Gm11390

MMRRC Submission

041936-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R4685 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33845388-33855564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33855211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 295 (D295G)

Ref Sequence

ENSEMBL: ENSMUSP00000152621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059637] [ENSMUST00000221681]

AlphaFold

Q3UWK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059637
AA Change: D295G

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

SMART Domains

Protein: ENSMUSP00000063025
Gene: ENSMUSG00000047889
AA Change: D295G

Domain	Start	End	E-Value	Type
SERPIN	13	375	1.67e-144	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000221681
AA Change: D295G

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

Meta Mutation Damage Score

0.8758

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (71/73)

MGI Phenotype

FUNCTION: This gene is a member of the large Serpin gene family. Many members of this family act as protease inhibitors, and have a conserved structure including a reactive center loop (RCL) that can act as a bait for protease targets. Unlike some members of this large gene family, the protein encoded by this gene is an intracellular protein, and lacks an N-terminal signal peptide sequence. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	C	12: 17,057,185 (GRCm39)	D104G	probably damaging	Het
2810021J22Rik	T	C	11: 58,771,750 (GRCm39)	S411P	probably damaging	Het
Adcy2	T	C	13: 68,876,024 (GRCm39)	R493G	probably benign	Het
Adcy8	A	G	15: 64,609,287 (GRCm39)	I874T	probably benign	Het
Ano2	G	T	6: 125,957,087 (GRCm39)	E619*	probably null	Het
Apob	A	G	12: 8,056,456 (GRCm39)	K1613R	probably benign	Het
Arhgef10	T	A	8: 15,006,963 (GRCm39)	F476Y	probably damaging	Het
Bmf	G	A	2: 118,377,283 (GRCm39)	A74V	probably damaging	Het
Cadps	T	C	14: 12,467,139 (GRCm38)	E925G	possibly damaging	Het
Ccdc162	T	C	10: 41,557,682 (GRCm39)	D181G	possibly damaging	Het
Ccdc85c	A	T	12: 108,173,434 (GRCm39)	C387S	probably benign	Het
Cntnap5a	T	C	1: 116,374,410 (GRCm39)	V974A	possibly damaging	Het
Cplx3	T	A	9: 57,516,483 (GRCm39)	I407F	probably damaging	Het
Dnah7b	T	C	1: 46,250,488 (GRCm39)	F1703S	probably damaging	Het
Dsg3	C	A	18: 20,672,793 (GRCm39)	D821E	probably benign	Het
Ecel1	G	T	1: 87,080,668 (GRCm39)		probably null	Het
Edn1	A	T	13: 42,458,729 (GRCm39)		probably null	Het
Egfr	G	A	11: 16,808,980 (GRCm39)	C58Y	probably damaging	Het
Fam184a	T	C	10: 53,574,596 (GRCm39)	N282D	probably benign	Het
Fhit	T	A	14: 9,870,091 (GRCm38)	Q63L	probably damaging	Het
Gabarapl2	T	C	8: 112,669,150 (GRCm39)	V36A	probably benign	Het
Glis1	T	C	4: 107,424,842 (GRCm39)	V151A	probably benign	Het
Gm12695	A	G	4: 96,650,217 (GRCm39)	S210P	probably damaging	Het
Gpat4	TAGAAGA	TAGA	8: 23,672,865 (GRCm39)		probably benign	Het
H2-M10.4	G	A	17: 36,772,688 (GRCm39)	A98V	probably benign	Het
Hhat	C	A	1: 192,277,362 (GRCm39)	G366C	probably damaging	Het
Hydin	C	A	8: 111,189,154 (GRCm39)	A1186E	probably damaging	Het
Itgb2	T	A	10: 77,385,937 (GRCm39)		probably null	Het
Kank1	C	T	19: 25,387,398 (GRCm39)	A329V	possibly damaging	Het
Kdm4b	T	A	17: 56,708,675 (GRCm39)	S1070T	probably benign	Het
Kyat1	A	G	2: 30,078,277 (GRCm39)	Y101H	probably damaging	Het
Map4k5	T	C	12: 69,858,140 (GRCm39)	K679R	probably benign	Het
Mill1	A	T	7: 17,989,853 (GRCm39)	D45V	probably damaging	Het
Myo3a	T	A	2: 22,412,233 (GRCm39)	Y743N	probably damaging	Het
Nox4	C	G	7: 86,946,716 (GRCm39)	I137M	probably benign	Het
Odf4	A	G	11: 68,813,665 (GRCm39)		probably null	Het
Ostf1	A	T	19: 18,558,652 (GRCm39)	D210E	probably damaging	Het
Paxip1	A	T	5: 27,966,675 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,578 (GRCm39)	T211A	probably benign	Het
Pla2g4f	A	G	2: 120,135,496 (GRCm39)	S393P	probably damaging	Het
Plppr3	T	C	10: 79,703,359 (GRCm39)	T42A	probably damaging	Het
Plxna4	C	A	6: 32,142,779 (GRCm39)	G1559W	probably damaging	Het
Ppp1r13l	T	C	7: 19,109,308 (GRCm39)		probably null	Het
Prex1	C	T	2: 166,480,252 (GRCm39)	V163M	probably damaging	Het
Prl6a1	A	G	13: 27,500,307 (GRCm39)	T93A	probably benign	Het
Psg16	T	C	7: 16,824,459 (GRCm39)	V81A	probably benign	Het
Rbm33	A	T	5: 28,613,280 (GRCm39)		probably benign	Het
Rest	C	T	5: 77,423,090 (GRCm39)	P298L	possibly damaging	Het
Rhobtb3	G	A	13: 76,027,051 (GRCm39)	R441*	probably null	Het
Rims4	T	A	2: 163,706,914 (GRCm39)	K155*	probably null	Het
Rps6kb1	C	T	11: 86,410,713 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,707,532 (GRCm39)	D2835G	probably damaging	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Sell	A	T	1: 163,893,829 (GRCm39)	I175F	probably damaging	Het
Sphk1	A	G	11: 116,426,106 (GRCm39)	D96G	probably damaging	Het
Spns3	A	T	11: 72,428,096 (GRCm39)	V228D	probably damaging	Het
Sspo	A	G	6: 48,469,828 (GRCm39)	S4500G	probably damaging	Het
Syt9	T	A	7: 107,035,678 (GRCm39)	C232S	possibly damaging	Het
Terf1	A	G	1: 15,889,185 (GRCm39)	I176V	possibly damaging	Het
Tln2	C	T	9: 67,209,854 (GRCm39)	A428T	probably damaging	Het
Tmprss7	T	C	16: 45,499,711 (GRCm39)	N321S	probably benign	Het
Tomm40	A	G	7: 19,435,761 (GRCm39)	I323T	probably benign	Het
Try5	T	A	6: 41,288,233 (GRCm39)	Q240L	possibly damaging	Het
Vmn1r213	A	T	13: 23,195,800 (GRCm39)	I128L	probably benign	Het
Vmn2r80	T	C	10: 79,030,162 (GRCm39)	F663L	possibly damaging	Het
Znfx1	T	A	2: 166,880,950 (GRCm39)	Y278F	probably damaging	Het
Zpbp2	A	G	11: 98,442,117 (GRCm39)		probably benign	Het

Other mutations in Serpinb6d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Serpinb6d	APN	13	33,855,346 (GRCm39)	missense	probably benign	0.05
IGL01611:Serpinb6d	APN	13	33,850,375 (GRCm39)	nonsense	probably null
IGL01946:Serpinb6d	APN	13	33,855,369 (GRCm39)	missense	probably benign	0.22
IGL02672:Serpinb6d	APN	13	33,855,372 (GRCm39)	missense	probably benign	0.36
R0041:Serpinb6d	UTSW	13	33,851,615 (GRCm39)	missense	probably damaging	0.98
R0041:Serpinb6d	UTSW	13	33,851,615 (GRCm39)	missense	probably damaging	0.98
R1112:Serpinb6d	UTSW	13	33,853,118 (GRCm39)	missense	probably damaging	1.00
R1159:Serpinb6d	UTSW	13	33,855,212 (GRCm39)	missense	probably damaging	0.98
R1447:Serpinb6d	UTSW	13	33,854,739 (GRCm39)	missense	probably benign	0.42
R1608:Serpinb6d	UTSW	13	33,853,112 (GRCm39)	missense	probably benign
R1843:Serpinb6d	UTSW	13	33,855,364 (GRCm39)	missense	probably benign
R1945:Serpinb6d	UTSW	13	33,851,663 (GRCm39)	missense	possibly damaging	0.95
R2168:Serpinb6d	UTSW	13	33,850,357 (GRCm39)	missense	probably benign	0.08
R2275:Serpinb6d	UTSW	13	33,855,411 (GRCm39)	missense	probably benign	0.00
R3737:Serpinb6d	UTSW	13	33,851,663 (GRCm39)	missense	probably damaging	1.00
R3738:Serpinb6d	UTSW	13	33,851,663 (GRCm39)	missense	probably damaging	1.00
R3739:Serpinb6d	UTSW	13	33,851,663 (GRCm39)	missense	probably damaging	1.00
R3780:Serpinb6d	UTSW	13	33,848,097 (GRCm39)	missense	probably benign
R3782:Serpinb6d	UTSW	13	33,848,097 (GRCm39)	missense	probably benign
R4002:Serpinb6d	UTSW	13	33,854,630 (GRCm39)	missense	probably damaging	0.98
R4707:Serpinb6d	UTSW	13	33,855,336 (GRCm39)	missense	possibly damaging	0.83
R4761:Serpinb6d	UTSW	13	33,855,250 (GRCm39)	missense	probably damaging	1.00
R4859:Serpinb6d	UTSW	13	33,851,547 (GRCm39)	splice site	probably null
R4884:Serpinb6d	UTSW	13	33,850,428 (GRCm39)	missense	possibly damaging	0.76
R4951:Serpinb6d	UTSW	13	33,850,366 (GRCm39)	missense	probably benign	0.03
R5010:Serpinb6d	UTSW	13	33,855,427 (GRCm39)	missense	probably benign	0.15
R5081:Serpinb6d	UTSW	13	33,855,230 (GRCm39)	missense	probably benign	0.32
R6726:Serpinb6d	UTSW	13	33,854,718 (GRCm39)	missense	probably benign	0.01
R6960:Serpinb6d	UTSW	13	33,855,181 (GRCm39)	missense	probably benign	0.08
R7214:Serpinb6d	UTSW	13	33,848,128 (GRCm39)	missense	probably damaging	1.00
R7732:Serpinb6d	UTSW	13	33,853,082 (GRCm39)	missense	probably benign	0.14
R8128:Serpinb6d	UTSW	13	33,850,383 (GRCm39)	missense	possibly damaging	0.46
R8197:Serpinb6d	UTSW	13	33,851,588 (GRCm39)	missense	probably damaging	0.98
R8471:Serpinb6d	UTSW	13	33,848,137 (GRCm39)	missense	probably damaging	0.99
R9026:Serpinb6d	UTSW	13	33,851,656 (GRCm39)	missense	possibly damaging	0.51
R9080:Serpinb6d	UTSW	13	33,855,107 (GRCm39)	missense	probably benign
R9253:Serpinb6d	UTSW	13	33,855,205 (GRCm39)	missense	probably damaging	1.00
R9562:Serpinb6d	UTSW	13	33,854,756 (GRCm39)	missense	probably benign	0.00
Z1088:Serpinb6d	UTSW	13	33,855,237 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AGTCATCTCCAGAATGCTGTG -3'
(R):5'- AGGAGAACCTGCCAATGATC -3'

Sequencing Primer
(F):5'- GTCATCTCCAGAATGCTGTGTATGAC -3'
(R):5'- CCTGCCAATGATCATAAAATCTTCGG -3'

Posted On

2015-10-21