Mutagenetix > Incidental Mutation

Incidental Mutation 'R0332:Bop1'

35950

Institutional Source

Beutler Lab

Gene Symbol

Bop1

Ensembl Gene

ENSMUSG00000022557

Gene Name

block of proliferation 1

Synonyms

Erb1p

MMRRC Submission

038541-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R0332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76337188-76361449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76340187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 130 (Y130H)

Ref Sequence

ENSEMBL: ENSMUSP00000023217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023217] [ENSMUST00000043089] [ENSMUST00000096385]

AlphaFold

P97452

Predicted Effect

probably damaging
Transcript: ENSMUST00000023217
AA Change: Y130H

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

SMART Domains

Protein: ENSMUSP00000023217
Gene: ENSMUSG00000022557
AA Change: Y130H

Domain	Start	End	E-Value	Type
low complexity region	31	48	N/A	INTRINSIC
low complexity region	106	117	N/A	INTRINSIC
BOP1NT	130	388	1.38e-177	SMART
WD40	388	427	1.16e-9	SMART
WD40	430	469	6.16e0	SMART
WD40	508	551	7.1e1	SMART
WD40	554	592	4.46e-1	SMART
WD40	595	634	2.76e-2	SMART
WD40	638	677	4.14e-6	SMART
WD40	689	732	3.14e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043089

SMART Domains

Protein: ENSMUSP00000043668
Gene: ENSMUSG00000034161

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
low complexity region	45	80	N/A	INTRINSIC
HLH	84	136	1.46e-16	SMART
low complexity region	161	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096385

SMART Domains

Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558

Domain	Start	End	E-Value	Type
low complexity region	442	455	N/A	INTRINSIC
low complexity region	594	607	N/A	INTRINSIC
low complexity region	799	810	N/A	INTRINSIC
low complexity region	935	946	N/A	INTRINSIC
low complexity region	1191	1202	N/A	INTRINSIC
low complexity region	1355	1367	N/A	INTRINSIC
low complexity region	1488	1502	N/A	INTRINSIC
Pfam:HEAT	1610	1640	2.2e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160986

Predicted Effect

probably benign
Transcript: ENSMUST00000161265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229132

Meta Mutation Damage Score

0.2457

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,505,954 (GRCm39)	E211G	probably damaging	Het
Aox3	A	G	1: 58,181,910 (GRCm39)	N299S	probably benign	Het
Arhgef7	T	A	8: 11,874,701 (GRCm39)	Y777*	probably null	Het
Atad1	A	G	19: 32,679,934 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,268 (GRCm39)		probably null	Het
Ccar2	G	T	14: 70,379,384 (GRCm39)		probably benign	Het
Ccdc110	G	T	8: 46,396,001 (GRCm39)	E631*	probably null	Het
Cfap54	C	T	10: 92,871,319 (GRCm39)	D634N	probably damaging	Het
Cldn8	C	T	16: 88,359,246 (GRCm39)		silent	Het
Cstf3	G	T	2: 104,476,812 (GRCm39)		probably null	Het
Dgkq	T	C	5: 108,802,965 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,366,204 (GRCm39)	L546*	probably null	Het
Eif3g	A	T	9: 20,809,280 (GRCm39)		probably benign	Het
Fam228a	T	A	12: 4,785,018 (GRCm39)	I38F	probably damaging	Het
Fto	A	T	8: 92,128,518 (GRCm39)		probably benign	Het
Gcnt4	G	T	13: 97,083,018 (GRCm39)	V105L	probably benign	Het
Gm10644	A	G	8: 84,660,210 (GRCm39)	L45S	possibly damaging	Het
Gm7275	A	T	16: 47,894,132 (GRCm39)		noncoding transcript	Het
Gm7579	T	C	7: 141,766,112 (GRCm39)	S173P	unknown	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Grep1	A	T	17: 23,933,578 (GRCm39)		probably benign	Het
Hspb8	T	A	5: 116,547,532 (GRCm39)	D150V	probably damaging	Het
Ifitm1	T	C	7: 140,548,366 (GRCm39)		probably benign	Het
Ifnl2	T	C	7: 28,208,756 (GRCm39)	T99A	possibly damaging	Het
Ints4	T	C	7: 97,166,925 (GRCm39)	L577P	probably damaging	Het
Jph4	T	C	14: 55,351,467 (GRCm39)	E183G	possibly damaging	Het
Loxhd1	T	A	18: 77,471,526 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,826,856 (GRCm39)		probably null	Het
Nlrp2	C	A	7: 5,320,629 (GRCm39)	C836F	probably damaging	Het
Nup210l	G	T	3: 90,039,616 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or51h1	A	T	7: 102,308,672 (GRCm39)	I215F	probably damaging	Het
Or7e178	A	G	9: 20,225,352 (GRCm39)	L288S	probably benign	Het
Phykpl	A	G	11: 51,477,502 (GRCm39)	E98G	probably benign	Het
Pikfyve	A	G	1: 65,303,558 (GRCm39)	N1648D	probably benign	Het
Plppr5	A	T	3: 117,465,581 (GRCm39)	R277S	probably benign	Het
Ppp1r36	T	A	12: 76,474,677 (GRCm39)	F86L	probably benign	Het
Ptgis	A	T	2: 167,056,753 (GRCm39)	L278Q	probably damaging	Het
Rasa2	A	T	9: 96,488,229 (GRCm39)	F90Y	probably damaging	Het
Setd3	T	C	12: 108,073,838 (GRCm39)	K480E	probably benign	Het
Slc66a1	C	T	4: 139,027,610 (GRCm39)	S244N	possibly damaging	Het
Snx2	T	C	18: 53,345,983 (GRCm39)	F389L	probably benign	Het
Sulf2	G	A	2: 165,931,119 (GRCm39)	T296M	probably benign	Het
Supt16	A	T	14: 52,418,614 (GRCm39)	H214Q	probably damaging	Het
Tbx4	A	T	11: 85,789,356 (GRCm39)	M12L	probably benign	Het
Tlk1	A	T	2: 70,575,909 (GRCm39)		probably null	Het
Tmprss7	C	T	16: 45,501,001 (GRCm39)	V267M	probably benign	Het
Tmub2	G	A	11: 102,179,174 (GRCm39)	R291H	probably damaging	Het
Trpm2	A	T	10: 77,783,822 (GRCm39)	V217E	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	G	2: 76,596,226 (GRCm39)	V20229A	probably benign	Het
Ttn	A	C	2: 76,608,538 (GRCm39)		probably null	Het
Usf2	T	A	7: 30,654,604 (GRCm39)	M199L	possibly damaging	Het
Usp37	A	T	1: 74,534,869 (GRCm39)	S26T	possibly damaging	Het
Vrk1	G	C	12: 106,024,884 (GRCm39)	Q253H	probably benign	Het
Wdr72	A	T	9: 74,064,534 (GRCm39)		probably null	Het
Xrra1	T	C	7: 99,525,449 (GRCm39)	F123L	probably damaging	Het
Zfhx3	T	C	8: 109,673,255 (GRCm39)	I1435T	probably damaging	Het
Zfp712	T	A	13: 67,188,877 (GRCm39)	H550L	probably damaging	Het

Other mutations in Bop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Bop1	APN	15	76,338,728 (GRCm39)	missense	probably benign	0.04
IGL01085:Bop1	APN	15	76,337,576 (GRCm39)	missense	probably damaging	1.00
IGL02157:Bop1	APN	15	76,339,772 (GRCm39)	missense	possibly damaging	0.70
R2148:Bop1	UTSW	15	76,339,487 (GRCm39)	missense	probably damaging	0.96
R3979:Bop1	UTSW	15	76,338,076 (GRCm39)	missense	probably damaging	1.00
R4133:Bop1	UTSW	15	76,338,535 (GRCm39)	missense	probably benign	0.24
R5396:Bop1	UTSW	15	76,339,489 (GRCm39)	missense	probably damaging	1.00
R5434:Bop1	UTSW	15	76,339,611 (GRCm39)	missense	probably benign	0.01
R5666:Bop1	UTSW	15	76,338,433 (GRCm39)	missense	probably benign	0.00
R5820:Bop1	UTSW	15	76,339,041 (GRCm39)	missense	probably damaging	1.00
R5883:Bop1	UTSW	15	76,339,049 (GRCm39)	missense	probably damaging	1.00
R5907:Bop1	UTSW	15	76,340,117 (GRCm39)	missense	probably damaging	1.00
R6807:Bop1	UTSW	15	76,339,183 (GRCm39)	missense	probably damaging	0.99
R6947:Bop1	UTSW	15	76,338,188 (GRCm39)	missense	probably damaging	1.00
R7232:Bop1	UTSW	15	76,337,546 (GRCm39)	missense	probably damaging	1.00
R7395:Bop1	UTSW	15	76,338,041 (GRCm39)	missense	probably damaging	1.00
R7477:Bop1	UTSW	15	76,339,526 (GRCm39)	missense	probably damaging	1.00
R7725:Bop1	UTSW	15	76,339,583 (GRCm39)	missense	probably benign	0.23
R7792:Bop1	UTSW	15	76,338,548 (GRCm39)	missense	probably damaging	1.00
R8887:Bop1	UTSW	15	76,338,524 (GRCm39)	missense	probably damaging	0.98
R9292:Bop1	UTSW	15	76,351,031 (GRCm39)	missense	probably benign
R9487:Bop1	UTSW	15	76,338,076 (GRCm39)	missense	probably damaging	1.00
R9601:Bop1	UTSW	15	76,338,688 (GRCm39)	missense	probably benign	0.16
R9781:Bop1	UTSW	15	76,338,041 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAATCTCCGAACTGGCCTCTCTG -3'
(R):5'- TCACTTGGCTTCTGGGCACTTG -3'

Sequencing Primer
(F):5'- GGCAACCTGCTCATCAGTTAG -3'
(R):5'- CTGGGCACTTGAGGCTG -3'

Posted On

2013-05-09