Mutagenetix > Incidental Mutation

Incidental Mutation 'R8390:Brix1'

647347

Institutional Source

Beutler Lab

Gene Symbol

Brix1

Ensembl Gene

ENSMUSG00000022247

Gene Name

BRX1, biogenesis of ribosomes

Synonyms

Bxdc2, 1110064N10Rik

MMRRC Submission

067755-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R8390 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10474865-10486023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10485954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 9 (R9H)

Ref Sequence

ENSEMBL: ENSMUSP00000022855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022855] [ENSMUST00000022856] [ENSMUST00000100775] [ENSMUST00000168408] [ENSMUST00000168761] [ENSMUST00000169050] [ENSMUST00000169519] [ENSMUST00000170100]

AlphaFold

Q9DCA5

Predicted Effect

probably benign
Transcript: ENSMUST00000022855
AA Change: R9H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247
AA Change: R9H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022856

SMART Domains

Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	257	2.2e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100775

SMART Domains

Protein: ENSMUSP00000098338
Gene: ENSMUSG00000022248

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	235	5.5e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168408

SMART Domains

Protein: ENSMUSP00000132747
Gene: ENSMUSG00000022248

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	67	1.7e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168761
AA Change: R7H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130602
Gene: ENSMUSG00000022247
AA Change: R7H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169050
AA Change: R9H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247
AA Change: R9H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169519

SMART Domains

Protein: ENSMUSP00000126645
Gene: ENSMUSG00000022248

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	133	9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170100

SMART Domains

Protein: ENSMUSP00000128601
Gene: ENSMUSG00000022248

Domain	Start	End	E-Value	Type
Pfam:Rad1	1	161	1.3e-51	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,830,841 (GRCm39)	F50I	unknown	Het
Abca9	A	T	11: 110,036,456 (GRCm39)	M551K	probably benign	Het
Adgrl3	T	C	5: 81,914,057 (GRCm39)	S1145P	probably damaging	Het
C1d	T	C	11: 17,213,993 (GRCm39)	V83A	probably damaging	Het
Ciz1	G	T	2: 32,257,335 (GRCm39)	V127L	probably benign	Het
Csnk1g3	A	T	18: 54,081,150 (GRCm39)	T374S	probably benign	Het
Elavl1	T	A	8: 4,339,623 (GRCm39)	K320*	probably null	Het
Foxn3	T	A	12: 99,355,000 (GRCm39)	M55L	probably benign	Het
Gm14399	A	T	2: 174,972,605 (GRCm39)	Y383*	probably null	Het
H2-M10.5	T	A	17: 37,085,487 (GRCm39)	H215Q	probably benign	Het
Hsd17b13	C	A	5: 104,120,512 (GRCm39)	C80F	probably damaging	Het
Ifi206	G	T	1: 173,308,511 (GRCm39)	T495N		Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,769,534 (GRCm39)	I86N	probably damaging	Het
Iqcf3	T	G	9: 106,438,175 (GRCm39)	E16A	unknown	Het
Kcnh5	T	A	12: 75,134,532 (GRCm39)	D339V	probably damaging	Het
Lmbr1	C	T	5: 29,440,040 (GRCm39)	M441I	probably benign	Het
Me3	G	T	7: 89,498,803 (GRCm39)	G461V	probably damaging	Het
Mepce	A	G	5: 137,783,441 (GRCm39)	L295P	possibly damaging	Het
Mtpap	T	A	18: 4,396,141 (GRCm39)	Y478N	probably damaging	Het
Myl12a	T	C	17: 71,303,231 (GRCm39)	M74V	probably benign	Het
Neil3	A	T	8: 54,062,559 (GRCm39)	M99K	probably damaging	Het
Nlrp3	A	G	11: 59,442,616 (GRCm39)	T723A	possibly damaging	Het
Obscn	A	T	11: 58,892,870 (GRCm39)	I6792N	probably benign	Het
Or13a19	G	T	7: 139,903,027 (GRCm39)	W138C	possibly damaging	Het
Or2d2	A	G	7: 106,728,522 (GRCm39)	L26P	probably benign	Het
Or5al7	A	G	2: 85,993,266 (GRCm39)	V9A	possibly damaging	Het
Or8b49	T	A	9: 38,505,887 (GRCm39)	Y123*	probably null	Het
Or8h10	G	A	2: 86,808,501 (GRCm39)	T213I	probably benign	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pitx2	C	A	3: 129,012,507 (GRCm39)	N312K	probably damaging	Het
Pot1b	C	A	17: 55,999,739 (GRCm39)	V229L	probably benign	Het
Psmd1	A	G	1: 86,006,329 (GRCm39)	I232V	possibly damaging	Het
Rif1	A	G	2: 52,000,935 (GRCm39)	E1463G	probably damaging	Het
Scn5a	T	A	9: 119,368,604 (GRCm39)	Y307F	possibly damaging	Het
Shprh	G	A	10: 11,063,727 (GRCm39)	E1267K	possibly damaging	Het
Smtnl1	A	T	2: 84,645,694 (GRCm39)	Y392*	probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,444,896 (GRCm39)	G2268R	probably benign	Het
Tex47	G	A	5: 7,355,301 (GRCm39)	E161K	probably benign	Het
Timd6	G	T	11: 46,468,082 (GRCm39)	R52L	probably damaging	Het
Tmem236	T	C	2: 14,224,168 (GRCm39)	L319P	probably damaging	Het
Tnk1	T	C	11: 69,742,695 (GRCm39)	T606A	possibly damaging	Het
Tnrc6a	A	G	7: 122,761,794 (GRCm39)	T81A	probably damaging	Het
Trav6d-4	A	T	14: 52,991,092 (GRCm39)	T46S	probably benign	Het
Wdr19	T	A	5: 65,381,210 (GRCm39)	Y411*	probably null	Het
Zfp553	A	G	7: 126,835,476 (GRCm39)	T344A	probably damaging	Het
Zfp62	G	A	11: 49,106,019 (GRCm39)	G37S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACCCTAAGCATAAGATCCTGTCAAG -3'
(R):5'- AGAGAGTCTACCTCGAGACC -3'

Sequencing Primer
(F):5'- ACTGGAGTCACTTCGCTGC -3'
(R):5'- AGTCTACCTCGAGACCGGAAG -3'

Posted On

2020-09-02