Mutagenetix > Incidental Mutations

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

1110064N10Rik, Bxdc2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

10474779-10485947 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10478766 bp

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]

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: 25,769,122	L7S	unknown	Het
Abr	C	T	11: 76,425,295	W571*	probably null	Het
Adam18	A	T	8: 24,641,836	C420S	probably damaging	Het
Akap5	G	T	12: 76,329,875	E694*	probably null	Het
Bbs1	T	C	19: 4,890,991	K565R	probably benign	Het
Cnot4	C	A	6: 35,051,241	R480L	probably damaging	Het
Ctu2	A	G	8: 122,479,201		probably benign	Het
Dhcr7	A	G	7: 143,847,366	H422R	probably damaging	Het
Dock1	A	G	7: 135,168,389	M1793V	probably benign	Het
Dock7	A	G	4: 99,003,791	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,340,229		probably benign	Het
Ftsj3	C	T	11: 106,253,813	D117N	probably damaging	Het
Gphn	A	G	12: 78,481,333	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,852,985	A230V	probably damaging	Het
Hydin	G	A	8: 110,418,524	A836T	probably benign	Het
Ift52	G	T	2: 163,025,334	E71*	probably null	Het
Ms4a14	T	C	19: 11,304,411	D261G	possibly damaging	Het
Nid1	G	A	13: 13,500,499	V935I	probably benign	Het
Nrap	T	C	19: 56,342,255	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,028,861	V1340G	probably benign	Het
Olfr1442	T	A	19: 12,674,967	I254N	probably damaging	Het
Olfr169	A	T	16: 19,566,353	F177I	probably damaging	Het
Olfr974	T	C	9: 39,943,036	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,499	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,433,439	V80A	possibly damaging	Het
Pigw	A	G	11: 84,877,777	I242T	probably benign	Het
Prtg	T	G	9: 72,856,985	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,543,463	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,544,918	R577H	probably damaging	Het
Ryr3	G	A	2: 112,675,974		probably benign	Het
Selenoi	T	C	5: 30,257,727	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,310,765	C343R	probably benign	Het
Smurf2	A	T	11: 106,831,048	D527E	probably benign	Het
Spam1	C	T	6: 24,797,011		probably benign	Het
Stkld1	T	C	2: 26,951,423	V460A	probably benign	Het
Tgoln1	G	A	6: 72,614,113	R339W	probably damaging	Het
Tprg	T	C	16: 25,412,762		probably benign	Het
Treml1	T	G	17: 48,364,851		probably benign	Het
Ttc39b	A	T	4: 83,237,280	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,249,763	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 86,148,703	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,950,310	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,585,956	C87R	probably damaging	Het
Zfp790	T	A	7: 29,829,895	Y668*	probably null	Het

Other mutations in Brix1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1266:Brix1	UTSW	15	10478761	missense	probably damaging	1.00
R4276:Brix1	UTSW	15	10481747	missense	possibly damaging	0.60
R4320:Brix1	UTSW	15	10483312	missense	probably damaging	1.00
R4824:Brix1	UTSW	15	10485742	missense	possibly damaging	0.90
R4902:Brix1	UTSW	15	10483292	splice site	probably null
R6018:Brix1	UTSW	15	10476589	missense	probably benign	0.26
R6019:Brix1	UTSW	15	10476589	missense	probably benign	0.26
R6021:Brix1	UTSW	15	10476589	missense	probably benign	0.26
R6022:Brix1	UTSW	15	10476589	missense	probably benign	0.26
R7203:Brix1	UTSW	15	10483292	splice site	probably null
R7218:Brix1	UTSW	15	10483292	splice site	probably null
R7522:Brix1	UTSW	15	10476590	missense	probably damaging	1.00
R8390:Brix1	UTSW	15	10485868	missense	probably benign
X0023:Brix1	UTSW	15	10478686	missense	probably damaging	1.00

Posted On

2016-08-02