Mutagenetix > Incidental Mutation

Incidental Mutation 'R7413:Selenbp2'

575201

Institutional Source

Beutler Lab

Gene Symbol

Selenbp2

Ensembl Gene

ENSMUSG00000068877

Gene Name

selenium binding protein 2

Synonyms

acetaminophen-binding protein, Lpsb2, AP56

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.370) question?

Stock #

R7413 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94600880-94611713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94607404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 275 (Q275R)

Ref Sequence

ENSEMBL: ENSMUSP00000088358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090848] [ENSMUST00000131650] [ENSMUST00000173849] [ENSMUST00000173981] [ENSMUST00000174223]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000090848
AA Change: Q275R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: Q275R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131650

Predicted Effect

probably benign
Transcript: ENSMUST00000173849
AA Change: Q213R

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: Q213R

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

probably benign
Transcript: ENSMUST00000173981

SMART Domains

Protein: ENSMUSP00000133320
Gene: ENSMUSG00000068877

Domain	Start	End	E-Value	Type
Pfam:SBP56	1	128	3.9e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174223

SMART Domains

Protein: ENSMUSP00000134623
Gene: ENSMUSG00000068877

Domain	Start	End	E-Value	Type
Pfam:SBP56	6	134	3.1e-56	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,895,524 (GRCm39)		probably null	Het
Agbl4	A	T	4: 111,514,495 (GRCm39)	D502V	probably benign	Het
Akap5	T	A	12: 76,375,678 (GRCm39)	V370E	possibly damaging	Het
Alms1	T	C	6: 85,605,288 (GRCm39)	C1844R	probably benign	Het
Apaf1	T	C	10: 90,831,542 (GRCm39)	K1191E	probably benign	Het
Bsn	C	T	9: 108,016,690 (GRCm39)	R107Q	possibly damaging	Het
Catsperb	G	T	12: 101,447,307 (GRCm39)	R269L	probably damaging	Het
Ccer1	T	C	10: 97,529,804 (GRCm39)	S156P	unknown	Het
Cdh16	C	T	8: 105,346,572 (GRCm39)	A241T	probably benign	Het
Cdk5rap2	A	G	4: 70,172,972 (GRCm39)	S1367P	probably damaging	Het
Cds2	C	T	2: 132,135,235 (GRCm39)	P42L	probably benign	Het
Col15a1	T	C	4: 47,245,431 (GRCm39)	Y61H	possibly damaging	Het
Dclre1a	G	A	19: 56,531,082 (GRCm39)	P755S	probably damaging	Het
Ddi1	A	T	9: 6,265,670 (GRCm39)	M233K	probably damaging	Het
Dpp4	T	C	2: 62,187,333 (GRCm39)	Y474C	probably damaging	Het
Epha7	T	A	4: 28,871,838 (GRCm39)	M389K	probably benign	Het
Ephb3	T	C	16: 21,033,457 (GRCm39)	F181S	probably damaging	Het
Epor	G	A	9: 21,874,776 (GRCm39)		probably benign	Het
Fbp2	C	A	13: 62,985,067 (GRCm39)	V285L	probably benign	Het
Flnc	A	T	6: 29,452,258 (GRCm39)	D1694V	probably damaging	Het
Ganab	T	A	19: 8,882,339 (GRCm39)	M98K	probably benign	Het
Gcm2	A	G	13: 41,259,230 (GRCm39)	S80P	probably damaging	Het
Gls	A	G	1: 52,254,735 (GRCm39)	S247P	probably benign	Het
Gne	T	C	4: 44,044,857 (GRCm39)	N426D	probably benign	Het
Ifne	A	T	4: 88,797,840 (GRCm39)	*193R	probably null	Het
Igf2r	G	T	17: 12,917,115 (GRCm39)	S1595*	probably null	Het
Krt26	C	T	11: 99,225,887 (GRCm39)	M226I	probably benign	Het
Lars2	G	A	9: 123,288,568 (GRCm39)	V805I	probably benign	Het
Lrrc57	C	A	2: 120,436,577 (GRCm39)	R177L	probably damaging	Het
Lrrn1	A	G	6: 107,546,083 (GRCm39)	E627G	probably benign	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,027,592 (GRCm39)		probably benign	Het
Mdga1	A	T	17: 30,069,647 (GRCm39)	V133E	probably damaging	Het
Med12l	A	G	3: 58,998,971 (GRCm39)	T644A	probably benign	Het
Meis1	T	A	11: 18,938,357 (GRCm39)	D218V	probably damaging	Het
Myo15b	A	G	11: 115,768,970 (GRCm39)	E1439G		Het
Naa12	T	C	18: 80,254,874 (GRCm39)	V56A	possibly damaging	Het
Nckipsd	G	A	9: 108,691,280 (GRCm39)	V401I	probably benign	Het
Nrg3	T	C	14: 38,092,669 (GRCm39)	I655V	probably damaging	Het
Oprm1	A	T	10: 6,778,919 (GRCm39)	I107F	probably damaging	Het
Or4k42	A	C	2: 111,319,933 (GRCm39)	I190R	probably benign	Het
Or52n3	A	T	7: 104,530,057 (GRCm39)	I48F	probably benign	Het
Or5p51	T	C	7: 107,444,721 (GRCm39)	D73G	probably damaging	Het
Osbpl7	T	C	11: 96,945,704 (GRCm39)		probably null	Het
Pcdh18	T	G	3: 49,699,232 (GRCm39)	S1077R	possibly damaging	Het
Pcdhb16	A	T	18: 37,611,975 (GRCm39)	K312*	probably null	Het
Plekhh2	A	T	17: 84,873,724 (GRCm39)	E336D	probably benign	Het
Ptprd	A	T	4: 76,165,076 (GRCm39)	S49T	probably benign	Het
Pxdn	A	G	12: 30,052,927 (GRCm39)	I1035V	probably benign	Het
Rlf	C	T	4: 121,007,297 (GRCm39)	G671D	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,128 (GRCm39)		probably benign	Het
Slc10a1	G	T	12: 81,007,396 (GRCm39)	F128L	probably benign	Het
Slitrk1	A	T	14: 109,149,357 (GRCm39)	Y451*	probably null	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Stambpl1	G	C	19: 34,204,116 (GRCm39)	G69R	probably damaging	Het
Surf4	G	T	2: 26,814,455 (GRCm39)	R149S	probably benign	Het
Tmem151a	T	C	19: 5,132,702 (GRCm39)	Y168C	probably damaging	Het
Ttc39c	A	G	18: 12,861,746 (GRCm39)	K416R	possibly damaging	Het
Tut4	T	C	4: 108,406,533 (GRCm39)	I1367T	possibly damaging	Het
Vit	T	C	17: 78,932,309 (GRCm39)	I472T	probably damaging	Het
Vmn1r212	A	C	13: 23,067,718 (GRCm39)	L205R	probably damaging	Het
Wscd2	T	C	5: 113,715,402 (GRCm39)	I414T	probably benign	Het
Zfp1005	A	C	2: 150,108,081 (GRCm39)	T14P	possibly 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
R0068:Selenbp2	UTSW	3	94,610,816 (GRCm39)	missense	probably benign	0.00
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
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'- TGCTCAGATCTGCTCAGGAG -3'
(R):5'- CTAGCCTCAGACCTATGAGCTAC -3'

Sequencing Primer
(F):5'- AGATCTGCTCAGGAGTCCTCTG -3'
(R):5'- TCAGACCTATGAGCTACATAAACCTC -3'

Posted On

2019-10-07