Mutagenetix > Incidental Mutation

Incidental Mutation 'R2021:Serpinb3d'

223920

Institutional Source

Beutler Lab

Gene Symbol

Serpinb3d

Ensembl Gene

ENSMUSG00000058017

Gene Name

serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D

Synonyms

MMRRC Submission

040030-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2021 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107078167-107083506 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107078452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 302 (V302A)

Ref Sequence

ENSEMBL: ENSMUSP00000023861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023861]

AlphaFold

Q6UKZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000023861
AA Change: V302A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023861
Gene: ENSMUSG00000058017
AA Change: V302A

Domain	Start	End	E-Value	Type
SERPIN	13	387	2.44e-169	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,931,451 (GRCm38)	S462P	probably damaging	Het
Ablim1	A	T	19: 57,047,018 (GRCm38)	S316T	probably damaging	Het
Alox8	C	T	11: 69,186,288 (GRCm38)	V460I	probably damaging	Het
Arvcf	G	A	16: 18,399,732 (GRCm38)	A491T	probably damaging	Het
Asnsd1	A	G	1: 53,347,227 (GRCm38)	S414P	possibly damaging	Het
Btbd7	A	G	12: 102,790,709 (GRCm38)	L706P	probably damaging	Het
Camk2d	T	A	3: 126,780,456 (GRCm38)	W171R	probably damaging	Het
Casc3	T	A	11: 98,821,506 (GRCm38)	S124T	probably benign	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm38)	V1211A	probably benign	Het
Ccdc182	T	C	11: 88,294,136 (GRCm38)	V14A	possibly damaging	Het
Ccdc80	A	T	16: 45,122,912 (GRCm38)	Q795L	probably damaging	Het
Ccdc88a	T	G	11: 29,503,480 (GRCm38)	S1614R	probably damaging	Het
Clcn6	A	G	4: 148,010,652 (GRCm38)		probably null	Het
Cubn	A	G	2: 13,308,549 (GRCm38)	V3070A	probably benign	Het
Dst	G	A	1: 34,166,291 (GRCm38)	V1025I	possibly damaging	Het
Dusp27	A	T	1: 166,100,823 (GRCm38)	W407R	probably benign	Het
Elk3	T	A	10: 93,265,677 (GRCm38)	I71F	probably damaging	Het
Flt3	A	T	5: 147,369,490 (GRCm38)	I276N	probably damaging	Het
Frem1	G	T	4: 82,913,558 (GRCm38)	T1988K	probably benign	Het
Gm597	A	T	1: 28,778,153 (GRCm38)	V266D	probably damaging	Het
Golph3l	T	A	3: 95,617,357 (GRCm38)	D306E	probably benign	Het
Grk2	T	A	19: 4,290,670 (GRCm38)	I254F	probably damaging	Het
Hgf	C	T	5: 16,576,921 (GRCm38)	T214I	probably benign	Het
Hoxc5	C	A	15: 103,014,382 (GRCm38)		probably null	Het
Hsd11b1	T	C	1: 193,240,378 (GRCm38)	T124A	probably benign	Het
Ipp	A	G	4: 116,515,368 (GRCm38)	Y198C	probably benign	Het
Ism1	T	A	2: 139,740,127 (GRCm38)		probably null	Het
Klhl42	A	G	6: 147,091,896 (GRCm38)	Y122C	possibly damaging	Het
Klk1b21	A	T	7: 44,105,994 (GRCm38)	K206*	probably null	Het
Lcn11	A	G	2: 25,778,085 (GRCm38)	K85R	probably benign	Het
Macf1	G	T	4: 123,472,730 (GRCm38)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,400,653 (GRCm38)	V175A	probably damaging	Het
Myh2	A	T	11: 67,191,719 (GRCm38)	N1372Y	probably damaging	Het
Ncl	A	G	1: 86,356,955 (GRCm38)		probably null	Het
Nudt2	A	G	4: 41,480,255 (GRCm38)	D46G	probably damaging	Het
Obscn	C	T	11: 59,067,174 (GRCm38)	D3567N	probably benign	Het
Olfr1245	A	T	2: 89,574,961 (GRCm38)	M255K	possibly damaging	Het
Olfr346	G	C	2: 36,688,475 (GRCm38)	V158L	probably benign	Het
Olfr373	G	T	8: 72,100,086 (GRCm38)	V109F	possibly damaging	Het
Pamr1	T	A	2: 102,634,535 (GRCm38)	M343K	probably benign	Het
Pcdh15	T	G	10: 74,631,193 (GRCm38)	S1684A	possibly damaging	Het
Ppm1h	T	A	10: 122,878,528 (GRCm38)	L324*	probably null	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm38)	I76V	probably benign	Het
Prkdc	G	A	16: 15,677,009 (GRCm38)	V748I	probably benign	Het
Prss47	A	G	13: 65,051,777 (GRCm38)	V96A	probably benign	Het
Rsbn1	C	T	3: 103,914,473 (GRCm38)	T8I	probably benign	Het
Rsf1	GGCG	GGCGACGGCGGCG	7: 97,579,906 (GRCm38)		probably benign	Het
Sfrp4	A	T	13: 19,632,326 (GRCm38)	I177F	probably benign	Het
Sh3bp2	A	G	5: 34,544,225 (GRCm38)		probably benign	Het
Slc7a12	A	G	3: 14,497,333 (GRCm38)	T257A	probably damaging	Het
Specc1l	T	C	10: 75,267,591 (GRCm38)		probably null	Het
Stard9	A	G	2: 120,704,235 (GRCm38)	T3658A	probably benign	Het
Tctex1d4	A	G	4: 117,128,307 (GRCm38)	E109G	possibly damaging	Het
Tmem2	G	A	19: 21,844,750 (GRCm38)	A1170T	possibly damaging	Het
Tmem30c	T	C	16: 57,281,362 (GRCm38)	T68A	probably damaging	Het
Tnr	A	G	1: 159,852,022 (GRCm38)	I189V	probably benign	Het
Trrap	A	G	5: 144,853,488 (GRCm38)	N3586S	possibly damaging	Het
Usp14	T	C	18: 10,024,632 (GRCm38)	T22A	probably damaging	Het
Vmn1r68	A	G	7: 10,527,991 (GRCm38)	L60P	probably damaging	Het
Vmn2r108	G	A	17: 20,470,990 (GRCm38)	H424Y	probably benign	Het
Wdr81	C	A	11: 75,445,962 (GRCm38)	E1534*	probably null	Het
Zc3h13	A	G	14: 75,330,195 (GRCm38)	E976G	probably damaging	Het
Zfp128	T	C	7: 12,890,029 (GRCm38)	L108P	possibly damaging	Het
Zfp644	T	C	5: 106,635,682 (GRCm38)	I1000V	possibly damaging	Het

Other mutations in Serpinb3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Serpinb3d	APN	1	107,079,666 (GRCm38)	missense	probably damaging	1.00
IGL01917:Serpinb3d	APN	1	107,079,681 (GRCm38)	missense	probably damaging	1.00
IGL02732:Serpinb3d	APN	1	107,082,796 (GRCm38)	critical splice acceptor site	probably null
IGL02988:Serpinb3d	UTSW	1	107,078,536 (GRCm38)	missense	probably benign
R0540:Serpinb3d	UTSW	1	107,079,232 (GRCm38)	missense	probably benign	0.01
R0594:Serpinb3d	UTSW	1	107,079,347 (GRCm38)	missense	probably damaging	1.00
R1666:Serpinb3d	UTSW	1	107,080,751 (GRCm38)	missense	probably benign	0.18
R1668:Serpinb3d	UTSW	1	107,080,751 (GRCm38)	missense	probably benign	0.18
R1905:Serpinb3d	UTSW	1	107,079,284 (GRCm38)	missense	possibly damaging	0.71
R1994:Serpinb3d	UTSW	1	107,080,788 (GRCm38)	missense	possibly damaging	0.52
R2022:Serpinb3d	UTSW	1	107,078,452 (GRCm38)	missense	probably benign	0.05
R3760:Serpinb3d	UTSW	1	107,081,574 (GRCm38)	splice site	probably benign
R4118:Serpinb3d	UTSW	1	107,079,230 (GRCm38)	missense	possibly damaging	0.58
R4496:Serpinb3d	UTSW	1	107,079,292 (GRCm38)	missense	probably damaging	0.98
R4770:Serpinb3d	UTSW	1	107,078,278 (GRCm38)	missense	probably damaging	1.00
R4793:Serpinb3d	UTSW	1	107,078,221 (GRCm38)	missense	probably damaging	1.00
R5174:Serpinb3d	UTSW	1	107,078,498 (GRCm38)	missense	possibly damaging	0.63
R5434:Serpinb3d	UTSW	1	107,078,533 (GRCm38)	missense	probably benign	0.02
R5813:Serpinb3d	UTSW	1	107,079,297 (GRCm38)	missense	probably benign	0.14
R5820:Serpinb3d	UTSW	1	107,078,359 (GRCm38)	missense	probably damaging	0.99
R5935:Serpinb3d	UTSW	1	107,083,375 (GRCm38)	missense	probably benign	0.00
R6056:Serpinb3d	UTSW	1	107,079,722 (GRCm38)	missense	probably damaging	1.00
R6092:Serpinb3d	UTSW	1	107,079,259 (GRCm38)	missense	probably damaging	1.00
R6188:Serpinb3d	UTSW	1	107,078,507 (GRCm38)	missense	probably damaging	0.98
R6247:Serpinb3d	UTSW	1	107,082,760 (GRCm38)	missense	probably benign	0.01
R6369:Serpinb3d	UTSW	1	107,080,753 (GRCm38)	missense	probably benign	0.00
R6476:Serpinb3d	UTSW	1	107,083,341 (GRCm38)	missense	probably benign	0.09
R7178:Serpinb3d	UTSW	1	107,080,776 (GRCm38)	missense	possibly damaging	0.72
R7743:Serpinb3d	UTSW	1	107,079,358 (GRCm38)	missense	probably damaging	0.99
R7765:Serpinb3d	UTSW	1	107,079,782 (GRCm38)	missense	probably damaging	1.00
R8371:Serpinb3d	UTSW	1	107,080,739 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAAGAGGATGCTATTGGTCTTG -3'
(R):5'- CAGTCTTTCAGTTAACCATAGCAAC -3'

Sequencing Primer
(F):5'- TACAAGAGAAATCATTGGGCTTTGG -3'
(R):5'- TCAGTTAACCATAGCAACTCTTTTC -3'

Posted On

2014-08-25