Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Serpinb3d'

367374

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

042410-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107005893-107011210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107006008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 360 (F360S)

Ref Sequence

ENSEMBL: ENSMUSP00000023861 (fasta)

Gene Model

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

AlphaFold

Q6UKZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000023861
AA Change: F360S

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

SMART Domains

Protein: ENSMUSP00000023861
Gene: ENSMUSG00000058017
AA Change: F360S

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

Meta Mutation Damage Score

0.6942

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,962,341 (GRCm39)	V503A	possibly damaging	Het
Agps	T	A	2: 75,722,199 (GRCm39)	F463Y	possibly damaging	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Amigo3	A	T	9: 107,930,734 (GRCm39)	L52F	probably damaging	Het
Anapc1	T	C	2: 128,527,980 (GRCm39)		probably benign	Het
Ankrd36	G	T	11: 5,540,870 (GRCm39)	C312F	possibly damaging	Het
Asic2	A	C	11: 80,862,318 (GRCm39)	D226E	probably benign	Het
Atp8b2	T	A	3: 89,864,374 (GRCm39)	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,092,642 (GRCm39)	Y495C	probably damaging	Het
Ccdc51	A	G	9: 108,919,978 (GRCm39)	T125A	probably benign	Het
Ccser1	A	G	6: 61,288,485 (GRCm39)	Y216C	possibly damaging	Het
Cimap1b	A	G	15: 89,263,326 (GRCm39)	I19T	probably damaging	Het
Cntfr	A	T	4: 41,663,282 (GRCm39)	I175N	possibly damaging	Het
Cox10	G	A	11: 63,854,989 (GRCm39)	R431W	probably benign	Het
Cubn	T	C	2: 13,319,578 (GRCm39)	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,774 (GRCm39)	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,540,986 (GRCm39)	G125D	probably benign	Het
Dscaml1	C	T	9: 45,581,404 (GRCm39)	R408C	probably damaging	Het
Duox2	A	T	2: 122,115,397 (GRCm39)	S1052T	probably benign	Het
Ecm1	A	G	3: 95,645,273 (GRCm39)		probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Epb41l1	T	A	2: 156,371,344 (GRCm39)	M727K	probably benign	Het
Exosc9	T	C	3: 36,607,984 (GRCm39)	V64A	probably damaging	Het
Ezh2	A	T	6: 47,517,630 (GRCm39)	I564N	probably damaging	Het
Fam89b	C	A	19: 5,779,482 (GRCm39)	R25L	probably damaging	Het
Fgr	C	T	4: 132,714,602 (GRCm39)	T98M	probably damaging	Het
Fhip2b	T	A	14: 70,825,727 (GRCm39)	D351V	probably damaging	Het
Gapvd1	A	G	2: 34,581,193 (GRCm39)	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,213,837 (GRCm39)	I544F	possibly damaging	Het
Gli2	C	A	1: 118,910,318 (GRCm39)		probably benign	Het
Gm9934	A	G	7: 92,702,192 (GRCm39)		noncoding transcript	Het
Greb1	A	T	12: 16,731,357 (GRCm39)	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,272,414 (GRCm39)	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,367,698 (GRCm39)	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Itga2b	A	G	11: 102,351,582 (GRCm39)	F581S	probably damaging	Het
Itsn2	T	A	12: 4,677,892 (GRCm39)	M83K	probably damaging	Het
Kif27	G	A	13: 58,492,191 (GRCm39)	T316M	probably damaging	Het
Lad1	A	T	1: 135,753,531 (GRCm39)	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,502,442 (GRCm39)	H625L	probably benign	Het
Mast1	A	G	8: 85,655,875 (GRCm39)	V155A	probably benign	Het
Mast3	G	A	8: 71,238,864 (GRCm39)	T480M	probably damaging	Het
Mpc1	C	T	17: 8,512,377 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,457,380 (GRCm39)	M1606L	probably benign	Het
Myo1c	T	A	11: 75,551,139 (GRCm39)	L238*	probably null	Het
Nanog	T	G	6: 122,688,550 (GRCm39)	S44A	possibly damaging	Het
Neb	T	C	2: 52,039,165 (GRCm39)	Q6958R	probably benign	Het
Ngef	C	T	1: 87,405,283 (GRCm39)	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,661,471 (GRCm39)	V265A	probably benign	Het
Nr3c2	A	G	8: 77,634,872 (GRCm39)		probably null	Het
Olfm5	A	G	7: 103,809,685 (GRCm39)	S164P	probably benign	Het
Parvb	T	C	15: 84,188,106 (GRCm39)		probably null	Het
Pde4dip	G	T	3: 97,674,400 (GRCm39)	A172D	probably damaging	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,420,720 (GRCm39)	V155E	probably damaging	Het
Pinx1	T	G	14: 64,109,820 (GRCm39)	V124G	probably damaging	Het
Poglut1	A	G	16: 38,355,119 (GRCm39)	Y236H	probably damaging	Het
Pou4f2	T	A	8: 79,163,030 (GRCm39)	M2L	unknown	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Pramel26	C	T	4: 143,538,519 (GRCm39)	E151K	probably damaging	Het
Prkaca	A	G	8: 84,717,499 (GRCm39)	N209S	probably benign	Het
Ring1	G	A	17: 34,242,361 (GRCm39)	P49S	probably damaging	Het
Rnf20	T	A	4: 49,633,412 (GRCm39)		probably null	Het
Rnf25	G	A	1: 74,633,099 (GRCm39)	R418C	probably damaging	Het
Ryr1	G	T	7: 28,808,707 (GRCm39)	P462Q	probably damaging	Het
Setd7	T	C	3: 51,428,843 (GRCm39)	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,320,156 (GRCm39)		probably null	Het
Snap91	G	A	9: 86,655,654 (GRCm39)	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,404,424 (GRCm39)		noncoding transcript	Het
Son	T	A	16: 91,455,756 (GRCm39)	V1501E	probably damaging	Het
Syncrip	T	A	9: 88,361,905 (GRCm39)	E70V	probably damaging	Het
Tas2r125	A	G	6: 132,886,750 (GRCm39)	D46G	probably damaging	Het
Tmem115	G	A	9: 107,412,156 (GRCm39)	R160Q	probably benign	Het
Trerf1	G	A	17: 47,630,581 (GRCm39)		noncoding transcript	Het
Tut7	A	G	13: 59,920,698 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,266,466 (GRCm39)		probably null	Het
Ush2a	G	T	1: 188,282,076 (GRCm39)	V1864F	probably benign	Het
Xkr4	A	T	1: 3,286,714 (GRCm39)	V492D	probably damaging	Het
Zfp646	T	A	7: 127,482,649 (GRCm39)	S1609T	possibly damaging	Het
Zfp65	A	T	13: 67,856,477 (GRCm39)	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,791,614 (GRCm39)	S176P	probably damaging	Het
Zfp747	C	T	7: 126,974,971 (GRCm39)	A10T	probably damaging	Het
Zfp850	T	C	7: 27,684,411 (GRCm39)		probably null	Het

Other mutations in Serpinb3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Serpinb3d	APN	1	107,007,396 (GRCm39)	missense	probably damaging	1.00
IGL01917:Serpinb3d	APN	1	107,007,411 (GRCm39)	missense	probably damaging	1.00
IGL02732:Serpinb3d	APN	1	107,010,526 (GRCm39)	critical splice acceptor site	probably null
IGL02988:Serpinb3d	UTSW	1	107,006,266 (GRCm39)	missense	probably benign
R0540:Serpinb3d	UTSW	1	107,006,962 (GRCm39)	missense	probably benign	0.01
R0594:Serpinb3d	UTSW	1	107,007,077 (GRCm39)	missense	probably damaging	1.00
R1666:Serpinb3d	UTSW	1	107,008,481 (GRCm39)	missense	probably benign	0.18
R1668:Serpinb3d	UTSW	1	107,008,481 (GRCm39)	missense	probably benign	0.18
R1905:Serpinb3d	UTSW	1	107,007,014 (GRCm39)	missense	possibly damaging	0.71
R1994:Serpinb3d	UTSW	1	107,008,518 (GRCm39)	missense	possibly damaging	0.52
R2021:Serpinb3d	UTSW	1	107,006,182 (GRCm39)	missense	probably benign	0.05
R2022:Serpinb3d	UTSW	1	107,006,182 (GRCm39)	missense	probably benign	0.05
R3760:Serpinb3d	UTSW	1	107,009,304 (GRCm39)	splice site	probably benign
R4118:Serpinb3d	UTSW	1	107,006,960 (GRCm39)	missense	possibly damaging	0.58
R4496:Serpinb3d	UTSW	1	107,007,022 (GRCm39)	missense	probably damaging	0.98
R4793:Serpinb3d	UTSW	1	107,005,951 (GRCm39)	missense	probably damaging	1.00
R5174:Serpinb3d	UTSW	1	107,006,228 (GRCm39)	missense	possibly damaging	0.63
R5434:Serpinb3d	UTSW	1	107,006,263 (GRCm39)	missense	probably benign	0.02
R5813:Serpinb3d	UTSW	1	107,007,027 (GRCm39)	missense	probably benign	0.14
R5820:Serpinb3d	UTSW	1	107,006,089 (GRCm39)	missense	probably damaging	0.99
R5935:Serpinb3d	UTSW	1	107,011,105 (GRCm39)	missense	probably benign	0.00
R6056:Serpinb3d	UTSW	1	107,007,452 (GRCm39)	missense	probably damaging	1.00
R6092:Serpinb3d	UTSW	1	107,006,989 (GRCm39)	missense	probably damaging	1.00
R6188:Serpinb3d	UTSW	1	107,006,237 (GRCm39)	missense	probably damaging	0.98
R6247:Serpinb3d	UTSW	1	107,010,490 (GRCm39)	missense	probably benign	0.01
R6369:Serpinb3d	UTSW	1	107,008,483 (GRCm39)	missense	probably benign	0.00
R6476:Serpinb3d	UTSW	1	107,011,071 (GRCm39)	missense	probably benign	0.09
R7178:Serpinb3d	UTSW	1	107,008,506 (GRCm39)	missense	possibly damaging	0.72
R7743:Serpinb3d	UTSW	1	107,007,088 (GRCm39)	missense	probably damaging	0.99
R7765:Serpinb3d	UTSW	1	107,007,512 (GRCm39)	missense	probably damaging	1.00
R8371:Serpinb3d	UTSW	1	107,008,469 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGAACTGTCCTGGTCCAAATAGTAC -3'
(R):5'- CGCCTTTGATCCACAGAAGG -3'

Sequencing Primer
(F):5'- GTACATTCTTAGCAGGGACTATGAG -3'
(R):5'- TTTGATCCACAGAAGGCTGAC -3'

Posted On

2015-12-29