Mutagenetix > Incidental Mutation

Incidental Mutation 'R8830:Brix1'

673772

Institutional Source

Beutler Lab

Gene Symbol

Brix1

Ensembl Gene

ENSMUSG00000022247

Gene Name

BRX1, biogenesis of ribosomes

Synonyms

Bxdc2, 1110064N10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R8830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10474865-10486023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10479682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 124 (Q124L)

Ref Sequence

ENSEMBL: ENSMUSP00000022855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022855] [ENSMUST00000168761] [ENSMUST00000169050]

AlphaFold

Q9DCA5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022855
AA Change: Q124L

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247
AA Change: Q124L

Domain	Start	End	E-Value	Type
Brix	63	243	3.62e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168761

SMART Domains

Protein: ENSMUSP00000130602
Gene: ENSMUSG00000022247

Domain	Start	End	E-Value	Type
Blast:Brix	10	51	5e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169050
AA Change: Q130L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247
AA Change: Q130L

Domain	Start	End	E-Value	Type
Pfam:Brix	72	154	8.8e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	T	3: 59,654,744 (GRCm39)	T193S	probably benign	Het
Abca7	T	A	10: 79,844,805 (GRCm39)	V1509E	probably damaging	Het
Abraxas2	A	G	7: 132,485,085 (GRCm39)	D376G	probably damaging	Het
Agbl1	A	G	7: 75,985,059 (GRCm39)	T159A		Het
Ahnak2	G	A	12: 112,750,656 (GRCm39)	R89W		Het
Ajm1	T	G	2: 25,467,262 (GRCm39)	D883A		Het
Arhgef40	A	C	14: 52,241,165 (GRCm39)	D1396A	probably damaging	Het
Atp13a5	A	T	16: 29,066,928 (GRCm39)	F1060I	probably damaging	Het
Atp6v1c1	T	A	15: 38,677,789 (GRCm39)	F105I	probably damaging	Het
Atp9b	C	T	18: 80,809,015 (GRCm39)	E635K		Het
Cep68	A	G	11: 20,180,418 (GRCm39)		probably benign	Het
Cfap46	A	G	7: 139,195,565 (GRCm39)	S2208P	unknown	Het
Crisp1	T	A	17: 40,605,310 (GRCm39)	K234*	probably null	Het
Cryzl1	C	T	16: 91,509,092 (GRCm39)	V70I	probably benign	Het
Cybc1	C	T	11: 121,119,549 (GRCm39)		probably benign	Het
Dnah7b	T	C	1: 46,230,953 (GRCm39)	Y1404H	probably damaging	Het
Dot1l	A	G	10: 80,607,033 (GRCm39)	H109R	possibly damaging	Het
E330034G19Rik	A	C	14: 24,359,576 (GRCm39)	H329P	unknown	Het
Erbb4	A	T	1: 68,114,627 (GRCm39)	L939Q	probably damaging	Het
Fst	A	T	13: 114,592,364 (GRCm39)	C118S	probably damaging	Het
Gfra3	A	G	18: 34,844,189 (GRCm39)	V117A	possibly damaging	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Greb1	A	G	12: 16,738,520 (GRCm39)	M1481T	probably benign	Het
Hecw2	G	A	1: 53,930,305 (GRCm39)	R1045C	probably damaging	Het
Hexb	C	T	13: 97,330,762 (GRCm39)	V84I	probably benign	Het
Hpse	T	C	5: 100,843,452 (GRCm39)	E240G	probably benign	Het
Hspa12a	T	C	19: 58,793,895 (GRCm39)	D322G	possibly damaging	Het
Hspa9	A	T	18: 35,081,157 (GRCm39)		probably null	Het
Kif9	A	G	9: 110,353,998 (GRCm39)	K790R	probably damaging	Het
Klc2	C	T	19: 5,160,394 (GRCm39)		probably null	Het
Ldha	C	G	7: 46,499,702 (GRCm39)	N144K	probably benign	Het
Mical2	A	G	7: 111,980,403 (GRCm39)	T126A	probably benign	Het
Mrpl15	A	T	1: 4,852,807 (GRCm39)	V137D	probably damaging	Het
Muc16	G	A	9: 18,557,365 (GRCm39)	T2976I	unknown	Het
Mybpc2	A	T	7: 44,161,965 (GRCm39)	V495D	probably damaging	Het
Or10a5	A	G	7: 106,635,889 (GRCm39)	N176D	probably benign	Het
Or52ab2	A	G	7: 102,970,212 (GRCm39)	K198R		Het
Or6c203	A	T	10: 129,010,715 (GRCm39)	Y58*	probably null	Het
Pcnt	G	A	10: 76,218,008 (GRCm39)	T2089I	probably benign	Het
Pdzd7	T	C	19: 45,021,512 (GRCm39)	D563G	probably damaging	Het
Phlpp1	T	G	1: 106,278,333 (GRCm39)	L915R	probably damaging	Het
Plekhh2	T	A	17: 84,829,231 (GRCm39)	I34N	probably damaging	Het
Pou6f2	T	A	13: 18,553,083 (GRCm39)	T84S		Het
Prxl2c	G	A	13: 64,445,114 (GRCm39)	Q170*	probably null	Het
Ptprq	A	G	10: 107,422,556 (GRCm39)	V1612A	possibly damaging	Het
Pvrig-ps	T	G	5: 138,340,410 (GRCm39)		probably benign	Het
Rasl10b	A	T	11: 83,303,502 (GRCm39)	I20F	probably damaging	Het
Rimbp3	T	A	16: 17,026,870 (GRCm39)	V98E	probably damaging	Het
Rims2	T	C	15: 39,300,758 (GRCm39)	I355T	possibly damaging	Het
Slc1a2	A	G	2: 102,566,360 (GRCm39)	H30R	probably benign	Het
Slc28a1	G	A	7: 80,810,794 (GRCm39)	V389M	possibly damaging	Het
Slc7a13	T	C	4: 19,819,189 (GRCm39)	S130P	probably benign	Het
Sp140	TTTTTTTT	TTTTTTTTTTTTT	1: 85,572,295 (GRCm39)		probably benign	Het
Spag17	T	A	3: 100,032,751 (GRCm39)	H2320Q	possibly damaging	Het
Speer4a1	T	C	5: 26,241,793 (GRCm39)	E111G	possibly damaging	Het
Ss18l1	T	C	2: 179,709,131 (GRCm39)	Y397H	unknown	Het
Tbck	T	C	3: 132,543,818 (GRCm39)	S890P	probably damaging	Het
Tcp11	T	C	17: 28,299,204 (GRCm39)	E17G	probably benign	Het
Tesk2	C	T	4: 116,659,484 (GRCm39)	R315C	probably benign	Het
Tln1	T	C	4: 43,556,383 (GRCm39)	N45S	probably benign	Het
Trim10	C	T	17: 37,180,846 (GRCm39)	P26S	probably damaging	Het
Vmac	C	A	17: 57,022,573 (GRCm39)	G146C	probably damaging	Het
Vmn1r14	G	A	6: 57,211,017 (GRCm39)	M198I	probably damaging	Het
Vmn1r194	T	C	13: 22,429,006 (GRCm39)	Y208H	possibly damaging	Het
Vmn1r78	G	A	7: 11,887,118 (GRCm39)	C243Y	probably damaging	Het
Wasf3	C	T	5: 146,403,672 (GRCm39)	Q261*	probably null	Het
Ybx2	A	G	11: 69,827,063 (GRCm39)	K88R	probably benign	Het
Zfhx4	G	A	3: 5,463,949 (GRCm39)	R1394H	probably damaging	Het
Zfp871	T	C	17: 32,993,901 (GRCm39)	T425A	probably benign	Het
Zfy2	C	T	Y: 2,106,600 (GRCm39)	S678N	possibly damaging	Het
Zswim4	T	C	8: 84,949,945 (GRCm39)	E650G	possibly damaging	Het

Other mutations in Brix1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03136:Brix1	APN	15	10,478,852 (GRCm39)	missense	probably damaging	0.97
R1266:Brix1	UTSW	15	10,478,847 (GRCm39)	missense	probably damaging	1.00
R4276:Brix1	UTSW	15	10,481,833 (GRCm39)	missense	possibly damaging	0.60
R4320:Brix1	UTSW	15	10,483,398 (GRCm39)	missense	probably damaging	1.00
R4824:Brix1	UTSW	15	10,485,828 (GRCm39)	missense	possibly damaging	0.90
R4902:Brix1	UTSW	15	10,483,378 (GRCm39)	splice site	probably null
R6018:Brix1	UTSW	15	10,476,675 (GRCm39)	missense	probably benign	0.26
R6019:Brix1	UTSW	15	10,476,675 (GRCm39)	missense	probably benign	0.26
R6021:Brix1	UTSW	15	10,476,675 (GRCm39)	missense	probably benign	0.26
R6022:Brix1	UTSW	15	10,476,675 (GRCm39)	missense	probably benign	0.26
R7203:Brix1	UTSW	15	10,483,378 (GRCm39)	splice site	probably null
R7218:Brix1	UTSW	15	10,483,378 (GRCm39)	splice site	probably null
R7522:Brix1	UTSW	15	10,476,676 (GRCm39)	missense	probably damaging	1.00
R8390:Brix1	UTSW	15	10,485,954 (GRCm39)	missense	probably benign
R8754:Brix1	UTSW	15	10,476,664 (GRCm39)	missense	probably benign	0.02
X0023:Brix1	UTSW	15	10,478,772 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAGATAGCACATGCCTAC -3'
(R):5'- ACCTTGAGTAGAATGCCAGCAAG -3'

Sequencing Primer
(F):5'- GAGATAGCACATGCCTACAATATTC -3'
(R):5'- TAGGTCTGTGAAATGAA -3'

Posted On

2021-07-15