Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03136:Brix1'

410516

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

10474865-10486023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10478852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 189 (F189S)

Ref Sequence

ENSEMBL: ENSMUSP00000022855 (fasta)

Gene Model

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

AlphaFold

Q9DCA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022855
AA Change: F189S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247
AA Change: F189S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168690

SMART Domains

Protein: ENSMUSP00000132283
Gene: ENSMUSG00000022247

Domain	Start	End	E-Value	Type
Brix	22	147	5.12e-17	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

probably benign
Transcript: ENSMUST00000169050

SMART Domains

Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,719,122 (GRCm39)	L7S	unknown	Het
Abr	C	T	11: 76,316,121 (GRCm39)	W571*	probably null	Het
Adam18	A	T	8: 25,131,852 (GRCm39)	C420S	probably damaging	Het
Akap5	G	T	12: 76,376,649 (GRCm39)	E694*	probably null	Het
Bbs1	T	C	19: 4,941,019 (GRCm39)	K565R	probably benign	Het
Cnot4	C	A	6: 35,028,176 (GRCm39)	R480L	probably damaging	Het
Ctu2	A	G	8: 123,205,940 (GRCm39)		probably benign	Het
Dhcr7	A	G	7: 143,401,103 (GRCm39)	H422R	probably damaging	Het
Dock1	A	G	7: 134,770,118 (GRCm39)	M1793V	probably benign	Het
Dock7	A	G	4: 98,892,028 (GRCm39)	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,258,466 (GRCm39)		probably benign	Het
Ftsj3	C	T	11: 106,144,639 (GRCm39)	D117N	probably damaging	Het
Gphn	A	G	12: 78,528,107 (GRCm39)	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,760,301 (GRCm39)	A230V	probably damaging	Het
Hydin	G	A	8: 111,145,156 (GRCm39)	A836T	probably benign	Het
Ift52	G	T	2: 162,867,254 (GRCm39)	E71*	probably null	Het
Ms4a14	T	C	19: 11,281,775 (GRCm39)	D261G	possibly damaging	Het
Nid1	G	A	13: 13,675,084 (GRCm39)	V935I	probably benign	Het
Nrap	T	C	19: 56,330,687 (GRCm39)	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,005,843 (GRCm39)	V1340G	probably benign	Het
Or2aj4	A	T	16: 19,385,103 (GRCm39)	F177I	probably damaging	Het
Or5b94	T	A	19: 12,652,331 (GRCm39)	I254N	probably damaging	Het
Or8d6	T	C	9: 39,854,332 (GRCm39)	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,520,567 (GRCm39)	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,617,609 (GRCm39)	V80A	possibly damaging	Het
Pigw	A	G	11: 84,768,603 (GRCm39)	I242T	probably benign	Het
Prtg	T	G	9: 72,764,267 (GRCm39)	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,691,329 (GRCm39)	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,422,117 (GRCm39)	R577H	probably damaging	Het
Ryr3	G	A	2: 112,506,319 (GRCm39)		probably benign	Het
Selenoi	T	C	5: 30,462,725 (GRCm39)	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,201,591 (GRCm39)	C343R	probably benign	Het
Smurf2	A	T	11: 106,721,874 (GRCm39)	D527E	probably benign	Het
Spam1	C	T	6: 24,797,010 (GRCm39)		probably benign	Het
Stkld1	T	C	2: 26,841,435 (GRCm39)	V460A	probably benign	Het
Tgoln1	G	A	6: 72,591,096 (GRCm39)	R339W	probably damaging	Het
Tprg1	T	C	16: 25,231,512 (GRCm39)		probably benign	Het
Treml1	T	G	17: 48,671,879 (GRCm39)		probably benign	Het
Ttc39b	A	T	4: 83,155,517 (GRCm39)	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,433,933 (GRCm39)	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 85,797,911 (GRCm39)	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,857,592 (GRCm39)	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,285,381 (GRCm39)	C87R	probably damaging	Het
Zfp790	T	A	7: 29,529,320 (GRCm39)	Y668*	probably null	Het

Other mutations in Brix1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8830:Brix1	UTSW	15	10,479,682 (GRCm39)	missense	possibly damaging	0.52
X0023:Brix1	UTSW	15	10,478,772 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02