Mutagenetix > Incidental Mutation

Incidental Mutation 'R0068:Selenbp2'

64413

Institutional Source

Beutler Lab

Gene Symbol

Selenbp2

Ensembl Gene

ENSMUSG00000068877

Gene Name

selenium binding protein 2

Synonyms

acetaminophen-binding protein, Lpsb2, AP56

MMRRC Submission

038359-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R0068 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

94600880-94611713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94610816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 294 (V294A)

Ref Sequence

ENSEMBL: ENSMUSP00000134270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090848] [ENSMUST00000131650] [ENSMUST00000173849]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000090848
AA Change: V356A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: V356A

Domain	Start	End	E-Value	Type
Pfam:SBP56	6	472	7.8e-227	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132162

Predicted Effect

probably benign
Transcript: ENSMUST00000173849
AA Change: V294A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: V294A

Domain	Start	End	E-Value	Type
Pfam:SBP56	6	62	4.4e-22	PFAM
Pfam:SBP56	57	410	4.1e-165	PFAM
Pfam:Lactonase	163	296	4.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174377

Meta Mutation Damage Score

0.1200

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 92.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,073,708 (GRCm39)	T1448A	probably damaging	Het
Aldoart2	G	T	12: 55,612,233 (GRCm39)	E53*	probably null	Het
Ankra2	C	T	13: 98,409,891 (GRCm39)	Q137*	probably null	Het
Arpc1a	C	T	5: 145,028,054 (GRCm39)	T21I	possibly damaging	Het
Arvcf	T	C	16: 18,214,819 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,914,624 (GRCm39)	S1751R	probably benign	Het
Bltp1	A	G	3: 37,006,370 (GRCm39)	T1675A	probably benign	Het
Bsn	C	A	9: 107,989,336 (GRCm39)	G2139C	probably damaging	Het
Ccdc148	T	C	2: 58,717,629 (GRCm39)	E530G	probably benign	Het
Cct3	A	G	3: 88,225,772 (GRCm39)	D365G	probably benign	Het
Chd2	A	T	7: 73,134,282 (GRCm39)	S688R	probably damaging	Het
Crispld1	A	G	1: 17,823,212 (GRCm39)	T398A	possibly damaging	Het
Ctbp2	A	C	7: 132,591,788 (GRCm39)	V906G	possibly damaging	Het
Cwf19l1	A	T	19: 44,119,938 (GRCm39)	Y68N	probably damaging	Het
Dlc1	T	A	8: 37,404,875 (GRCm39)	M305L	probably benign	Het
Dnm1l	C	A	16: 16,141,883 (GRCm39)	G288C	probably damaging	Het
Efcab3	T	C	11: 104,611,648 (GRCm39)	S497P	probably benign	Het
Fignl2	A	T	15: 100,952,129 (GRCm39)	I51N	probably damaging	Het
Flnb	A	G	14: 7,915,290 (GRCm38)	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,357,849 (GRCm39)		probably benign	Het
Hltf	G	A	3: 20,113,254 (GRCm39)	R9H	probably damaging	Het
Hps5	A	G	7: 46,426,466 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,323,034 (GRCm39)		probably benign	Het
Kansl1l	A	G	1: 66,760,047 (GRCm39)	V911A	probably benign	Het
Kdm3b	C	T	18: 34,957,827 (GRCm39)	T1064I	probably benign	Het
Lrriq1	T	A	10: 102,899,279 (GRCm39)	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,666,404 (GRCm39)	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,330,892 (GRCm39)		probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Napb	G	A	2: 148,540,843 (GRCm39)		probably benign	Het
Npc1	G	C	18: 12,341,424 (GRCm39)	P532A	probably benign	Het
Nrp2	G	T	1: 62,784,536 (GRCm39)	K228N	possibly damaging	Het
Or13f5	T	A	4: 52,825,503 (GRCm39)	Y35*	probably null	Het
Plekhg1	A	T	10: 3,890,504 (GRCm39)	K241*	probably null	Het
Poln	T	C	5: 34,234,432 (GRCm39)		probably benign	Het
Ppil1	A	T	17: 29,471,230 (GRCm39)	F92I	probably damaging	Het
Ppp1r9b	T	G	11: 94,892,046 (GRCm39)	F154V	probably damaging	Het
Ptchd3	T	G	11: 121,733,798 (GRCm39)	L896R	probably damaging	Het
Rev3l	A	G	10: 39,700,827 (GRCm39)	N1775D	possibly damaging	Het
Rusc2	T	C	4: 43,424,100 (GRCm39)		probably benign	Het
Slc25a48	T	C	13: 56,599,024 (GRCm39)	V118A	probably damaging	Het
Slc38a10	T	C	11: 120,025,679 (GRCm39)	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,589,173 (GRCm39)		probably null	Het
Slc39a12	A	G	2: 14,440,489 (GRCm39)	E480G	probably benign	Het
Tab2	C	A	10: 7,795,441 (GRCm39)	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,824,955 (GRCm39)	I284T	possibly damaging	Het
Tnks1bp1	T	A	2: 84,892,696 (GRCm39)	D212E	probably benign	Het
Trim67	T	C	8: 125,521,307 (GRCm39)	V223A	probably damaging	Het
Ugcg	A	G	4: 59,217,130 (GRCm39)	D218G	probably benign	Het
Vmn2r59	A	G	7: 41,695,725 (GRCm39)	L229S	probably damaging	Het
Zfp451	A	T	1: 33,816,706 (GRCm39)	L198I	probably damaging	Het

Other mutations in Selenbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01875:Selenbp2	APN	3	94,605,451 (GRCm39)	missense	possibly damaging	0.76
IGL02007:Selenbp2	APN	3	94,605,461 (GRCm39)	missense	possibly damaging	0.67
IGL02103:Selenbp2	APN	3	94,605,438 (GRCm39)	missense	probably null
IGL02222:Selenbp2	APN	3	94,607,269 (GRCm39)	missense	probably damaging	1.00
IGL02441:Selenbp2	APN	3	94,611,371 (GRCm39)	missense	probably benign	0.02
IGL03086:Selenbp2	APN	3	94,606,945 (GRCm39)	missense	probably damaging	1.00
R0256:Selenbp2	UTSW	3	94,607,008 (GRCm39)	missense	probably benign	0.35
R0725:Selenbp2	UTSW	3	94,604,809 (GRCm39)	splice site	probably benign
R0879:Selenbp2	UTSW	3	94,606,863 (GRCm39)	missense	possibly damaging	0.76
R1636:Selenbp2	UTSW	3	94,604,122 (GRCm39)	missense	probably damaging	1.00
R3719:Selenbp2	UTSW	3	94,606,924 (GRCm39)	missense	probably damaging	1.00
R4828:Selenbp2	UTSW	3	94,611,426 (GRCm39)	missense	probably benign	0.27
R4962:Selenbp2	UTSW	3	94,610,856 (GRCm39)	missense	probably damaging	0.99
R6661:Selenbp2	UTSW	3	94,609,821 (GRCm39)	missense	probably damaging	1.00
R7201:Selenbp2	UTSW	3	94,609,664 (GRCm39)	missense	probably benign	0.03
R7221:Selenbp2	UTSW	3	94,611,133 (GRCm39)	nonsense	probably null
R7413:Selenbp2	UTSW	3	94,607,404 (GRCm39)	missense	probably benign	0.03
R8932:Selenbp2	UTSW	3	94,609,793 (GRCm39)	missense	probably damaging	0.98
R8968:Selenbp2	UTSW	3	94,607,337 (GRCm39)	missense	probably benign	0.43
R9015:Selenbp2	UTSW	3	94,607,332 (GRCm39)	missense	probably damaging	1.00
R9380:Selenbp2	UTSW	3	94,609,654 (GRCm39)	missense	probably benign	0.01
R9516:Selenbp2	UTSW	3	94,607,352 (GRCm39)	missense	probably benign
R9544:Selenbp2	UTSW	3	94,605,368 (GRCm39)	missense	possibly damaging	0.78
R9588:Selenbp2	UTSW	3	94,605,368 (GRCm39)	missense	possibly damaging	0.78
X0050:Selenbp2	UTSW	3	94,611,435 (GRCm39)	missense	probably damaging	0.99
Z1176:Selenbp2	UTSW	3	94,605,407 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCAAACAACTCTAATGTAACGTCCAC -3'
(R):5'- TGCCCACTTGGCATACCAGC -3'

Sequencing Primer
(F):5'- ttggtggtgatggtggtg -3'
(R):5'- CTGGATCCCAAAGCATCCAA -3'

Posted On

2013-08-06