Mutagenetix > Incidental Mutation

Incidental Mutation 'R7477:Bop1'

579580

Institutional Source

Beutler Lab

Gene Symbol

Bop1

Ensembl Gene

ENSMUSG00000022557

Gene Name

block of proliferation 1

Synonyms

Erb1p

MMRRC Submission

045551-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R7477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76337188-76361449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76339526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 273 (E273G)

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: E273G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023217
Gene: ENSMUSG00000022557
AA Change: E273G

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

probably benign
Transcript: ENSMUST00000161265

Meta Mutation Damage Score

0.2532

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	G	T	5: 35,749,447 (GRCm39)	E191*	probably null	Het
Adam26a	T	A	8: 44,022,107 (GRCm39)	E461V	probably damaging	Het
Adamtsl1	G	A	4: 86,333,888 (GRCm39)	R1539Q	probably damaging	Het
Adipor2	A	T	6: 119,338,883 (GRCm39)	H123Q	probably benign	Het
Akap13	C	T	7: 75,398,995 (GRCm39)	S2691L	probably benign	Het
Aldh1l1	T	C	6: 90,575,369 (GRCm39)		probably null	Het
Ankrd11	A	T	8: 123,621,124 (GRCm39)	S909R	possibly damaging	Het
Car1	G	A	3: 14,841,343 (GRCm39)	H97Y	probably damaging	Het
Casp14	T	C	10: 78,550,138 (GRCm39)	N170S	probably benign	Het
Ccdc158	A	T	5: 92,798,555 (GRCm39)	L382M	probably damaging	Het
Ccdc18	A	C	5: 108,368,716 (GRCm39)	Q1279H	probably damaging	Het
Cdh18	A	G	15: 23,410,811 (GRCm39)	N432S	probably benign	Het
Ctdp1	T	C	18: 80,483,929 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,916,208 (GRCm39)	I691T	probably damaging	Het
Dnah9	A	G	11: 65,883,557 (GRCm39)	I2562T	probably damaging	Het
Dsp	A	T	13: 38,356,839 (GRCm39)	I240F	probably damaging	Het
Ell	T	C	8: 71,037,868 (GRCm39)	S308P	probably benign	Het
Elmo1	A	G	13: 20,469,489 (GRCm39)	D26G		Het
Fam171a1	T	C	2: 3,226,676 (GRCm39)	V603A	probably benign	Het
Fam83e	G	A	7: 45,378,404 (GRCm39)	G476D	probably damaging	Het
Farp2	A	G	1: 93,508,750 (GRCm39)		probably null	Het
Fcer1a	C	T	1: 173,048,851 (GRCm39)		probably null	Het
Gpr179	G	T	11: 97,226,665 (GRCm39)	T1830K	possibly damaging	Het
Grin3a	G	A	4: 49,719,278 (GRCm39)	P823S	probably damaging	Het
Heatr4	T	A	12: 84,026,604 (GRCm39)	I218F	probably damaging	Het
Il36rn	T	A	2: 24,169,704 (GRCm39)	Y21*	probably null	Het
Jakmip1	A	G	5: 37,330,915 (GRCm39)	T532A	probably benign	Het
Klf11	A	G	12: 24,703,562 (GRCm39)	D16G	probably benign	Het
Lrp1	T	A	10: 127,404,789 (GRCm39)	I1971F	probably damaging	Het
Lrrc9	T	A	12: 72,550,301 (GRCm39)		probably null	Het
Lrrk2	C	T	15: 91,696,528 (GRCm39)	L2439F	probably damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mapk14	G	A	17: 28,964,052 (GRCm39)	D313N	probably damaging	Het
Max	A	T	12: 76,999,960 (GRCm39)	S52T	probably benign	Het
Mrpl23	A	G	7: 142,091,018 (GRCm39)	R80G	possibly damaging	Het
Muc5ac	C	A	7: 141,370,019 (GRCm39)	N3186K	possibly damaging	Het
Mylk2	G	A	2: 152,762,261 (GRCm39)	V511I	probably damaging	Het
Mypn	T	C	10: 62,961,500 (GRCm39)	M1031V	possibly damaging	Het
Nbeal1	A	G	1: 60,300,743 (GRCm39)	T1488A	probably benign	Het
Ncbp1	A	T	4: 46,157,897 (GRCm39)	E378D	probably damaging	Het
Nedd9	A	T	13: 41,471,956 (GRCm39)	D174E	probably benign	Het
Nid2	T	A	14: 19,856,041 (GRCm39)	D1255E	probably benign	Het
Nlrc3	A	G	16: 3,782,675 (GRCm39)	C261R	probably damaging	Het
Or5w22	A	G	2: 87,362,431 (GRCm39)	N18S	probably benign	Het
Pgam1	T	A	19: 41,905,255 (GRCm39)	H196Q	probably damaging	Het
Pja2	A	C	17: 64,616,640 (GRCm39)	V85G	possibly damaging	Het
Pkd2	G	A	5: 104,631,108 (GRCm39)	V511M	probably benign	Het
Ppp2cb	T	A	8: 34,105,502 (GRCm39)	S171T	probably benign	Het
Prkab2	T	C	3: 97,566,063 (GRCm39)	F45S	probably damaging	Het
Rabep2	A	T	7: 126,043,990 (GRCm39)		probably null	Het
Rnf41	T	A	10: 128,271,303 (GRCm39)	I71N	probably damaging	Het
Slc5a7	G	A	17: 54,588,787 (GRCm39)	P287S	probably damaging	Het
Smc6	A	G	12: 11,321,808 (GRCm39)	D25G	probably benign	Het
Sptb	A	T	12: 76,675,339 (GRCm39)	L225Q	probably damaging	Het
Tenm4	A	C	7: 96,495,015 (GRCm39)	I1148L	probably damaging	Het
Tnk2	C	A	16: 32,496,709 (GRCm39)		probably null	Het
Trank1	G	A	9: 111,194,025 (GRCm39)	S683N	probably benign	Het
Trp53bp1	A	C	2: 121,066,827 (GRCm39)	V633G	probably benign	Het
Ugt2a3	T	C	5: 87,484,479 (GRCm39)	K182E	possibly damaging	Het
Uncx	A	T	5: 139,533,017 (GRCm39)	T361S	probably benign	Het
Vmn2r11	A	T	5: 109,207,214 (GRCm39)	N35K	possibly damaging	Het
Vmn2r4	C	A	3: 64,305,850 (GRCm39)	R524L	probably benign	Het
Vmn2r5	C	T	3: 64,399,060 (GRCm39)	V640M	probably damaging	Het
Washc4	T	C	10: 83,410,307 (GRCm39)	Y632H	probably damaging	Het
Xkr6	T	C	14: 63,844,129 (GRCm39)	S51P	possibly damaging	Het
Zer1	C	A	2: 29,997,988 (GRCm39)	K408N	probably null	Het
Znhit2	A	G	19: 6,112,501 (GRCm39)		probably null	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
R0332:Bop1	UTSW	15	76,340,187 (GRCm39)	missense	probably damaging	1.00
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
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'- TAAGCTTCCTCTCCACAGGC -3'
(R):5'- CCCATCCCTAGTTGAAAAGGAG -3'

Sequencing Primer
(F):5'- AGGCTCCTGCTGCATCCAC -3'
(R):5'- CATCCCTAGTTGAAAAGGAGAAGGTG -3'

Posted On

2019-10-07