Mutagenetix > Incidental Mutation

Incidental Mutation 'R7039:Brd3'

546910

Institutional Source

Beutler Lab

Gene Symbol

Brd3

Ensembl Gene

ENSMUSG00000026918

Gene Name

bromodomain containing 3

Synonyms

RINGL3, Fsrg2, ORFX, 2410084F24Rik

MMRRC Submission

045139-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R7039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27335588-27397669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27346929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 402 (K402E)

Ref Sequence

ENSEMBL: ENSMUSP00000114422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028282] [ENSMUST00000077737] [ENSMUST00000113941] [ENSMUST00000138693] [ENSMUST00000154316] [ENSMUST00000164296]

AlphaFold

Q8K2F0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028282
AA Change: K402E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028282
Gene: ENSMUSG00000026918
AA Change: K402E

Domain	Start	End	E-Value	Type
BROMO	31	141	4.16e-46	SMART
low complexity region	148	179	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
low complexity region	245	269	N/A	INTRINSIC
BROMO	307	416	7.64e-45	SMART
coiled coil region	455	525	N/A	INTRINSIC
PDB:2JNS\|A	572	645	5e-37	PDB
coiled coil region	649	684	N/A	INTRINSIC
low complexity region	691	726	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077737
AA Change: K402E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076918
Gene: ENSMUSG00000026918
AA Change: K402E

Domain	Start	End	E-Value	Type
BROMO	31	141	4.16e-46	SMART
low complexity region	148	179	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
low complexity region	245	269	N/A	INTRINSIC
BROMO	307	416	7.64e-45	SMART
coiled coil region	455	525	N/A	INTRINSIC
PDB:2JNS\|A	572	645	5e-37	PDB
coiled coil region	649	684	N/A	INTRINSIC
low complexity region	691	726	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113941
AA Change: K402E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109574
Gene: ENSMUSG00000026918
AA Change: K402E

Domain	Start	End	E-Value	Type
BROMO	31	141	4.16e-46	SMART
low complexity region	148	179	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
low complexity region	245	269	N/A	INTRINSIC
BROMO	307	416	7.64e-45	SMART
low complexity region	435	459	N/A	INTRINSIC
coiled coil region	505	542	N/A	INTRINSIC
Pfam:BET	589	653	1.2e-35	PFAM
coiled coil region	666	701	N/A	INTRINSIC
low complexity region	708	743	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000138693
AA Change: K402E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115755
Gene: ENSMUSG00000026918
AA Change: K402E

Domain	Start	End	E-Value	Type
BROMO	31	141	4.16e-46	SMART
low complexity region	148	179	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
low complexity region	245	269	N/A	INTRINSIC
BROMO	307	416	7.64e-45	SMART
low complexity region	435	459	N/A	INTRINSIC
coiled coil region	505	542	N/A	INTRINSIC
PDB:2JNS\|A	589	662	4e-37	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000154316
AA Change: K402E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114422
Gene: ENSMUSG00000026918
AA Change: K402E

Domain	Start	End	E-Value	Type
BROMO	31	141	4.16e-46	SMART
low complexity region	148	179	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
low complexity region	245	269	N/A	INTRINSIC
BROMO	307	416	7.64e-45	SMART
low complexity region	435	459	N/A	INTRINSIC
coiled coil region	505	542	N/A	INTRINSIC
PDB:2JNS\|A	589	662	4e-37	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164296
AA Change: K402E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128812
Gene: ENSMUSG00000026918
AA Change: K402E

Domain	Start	End	E-Value	Type
BROMO	31	141	4.16e-46	SMART
low complexity region	148	179	N/A	INTRINSIC
low complexity region	207	236	N/A	INTRINSIC
low complexity region	245	269	N/A	INTRINSIC
BROMO	307	416	7.64e-45	SMART
coiled coil region	455	525	N/A	INTRINSIC
Pfam:BET	572	636	1.5e-35	PFAM
coiled coil region	649	684	N/A	INTRINSIC
low complexity region	691	726	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	T	4: 56,741,022 (GRCm39)	L112Q	probably damaging	Het
Agap3	A	C	5: 24,688,399 (GRCm39)	I396L	probably benign	Het
AI987944	G	T	7: 41,023,880 (GRCm39)	S366R	probably benign	Het
Aox3	A	G	1: 58,215,714 (GRCm39)	T1049A	probably damaging	Het
Ap1g2	A	T	14: 55,340,111 (GRCm39)	L407*	probably null	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Cc2d2b	A	T	19: 40,790,845 (GRCm39)	D935V	probably damaging	Het
Cenpe	A	G	3: 134,961,217 (GRCm39)	N1904D	probably benign	Het
Cfap74	G	T	4: 155,538,565 (GRCm39)		probably null	Het
Chrdl2	A	G	7: 99,677,879 (GRCm39)	T261A	probably damaging	Het
Cyp4a14	G	A	4: 115,348,278 (GRCm39)	R400C	probably benign	Het
Dhfr	G	A	13: 92,491,791 (GRCm39)	V9I	probably benign	Het
Epha4	A	G	1: 77,483,422 (GRCm39)	S196P	probably damaging	Het
Evc2	T	A	5: 37,579,232 (GRCm39)	L1115Q	probably damaging	Het
Fat3	T	A	9: 16,287,561 (GRCm39)	E654V	probably damaging	Het
Fcgbpl1	G	A	7: 27,839,573 (GRCm39)	R462Q	possibly damaging	Het
Fer1l4	C	T	2: 155,878,650 (GRCm39)	V14I	probably benign	Het
Frmd5	A	T	2: 121,378,128 (GRCm39)		probably benign	Het
Helz	T	C	11: 107,510,144 (GRCm39)		probably null	Het
Igkv6-13	T	C	6: 70,434,498 (GRCm39)	S116G	probably benign	Het
Iscu	T	C	5: 113,914,833 (GRCm39)	V115A	possibly damaging	Het
Jade2	C	A	11: 51,719,186 (GRCm39)	K253N	probably damaging	Het
Katnal2	A	G	18: 77,134,868 (GRCm39)		probably null	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Magi3	T	C	3: 103,958,699 (GRCm39)	D462G	probably damaging	Het
Map3k14	T	C	11: 103,111,861 (GRCm39)	N940S	probably damaging	Het
Masp2	A	T	4: 148,687,043 (GRCm39)	M1L	probably benign	Het
Mga	G	A	2: 119,763,159 (GRCm39)	V1272I	probably benign	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Msto1	A	C	3: 88,818,697 (GRCm39)	V287G	probably damaging	Het
Myo5b	T	A	18: 74,834,599 (GRCm39)	D886E	probably benign	Het
Nek10	T	C	14: 14,826,946 (GRCm38)	I48T	possibly damaging	Het
Nek10	A	T	14: 14,986,700 (GRCm38)	R1013W	probably damaging	Het
Nipsnap3a	T	C	4: 53,000,130 (GRCm39)	V194A	probably damaging	Het
Nlrp9a	A	T	7: 26,267,367 (GRCm39)	T766S	probably benign	Het
Nol10	T	A	12: 17,479,185 (GRCm39)	S672T	possibly damaging	Het
Or4a80	A	T	2: 89,583,095 (GRCm39)	F26I	probably benign	Het
Or4c121	A	T	2: 89,023,790 (GRCm39)	I196N	probably damaging	Het
Or8d1b	T	A	9: 38,887,283 (GRCm39)	F104I	probably damaging	Het
Or8j3c	A	T	2: 86,253,177 (GRCm39)	I281K	possibly damaging	Het
Patj	T	A	4: 98,457,315 (GRCm39)	N1272K	probably damaging	Het
Peak1	T	C	9: 56,165,093 (GRCm39)	E945G	probably benign	Het
Peg3	C	T	7: 6,720,858 (GRCm39)	D16N	probably damaging	Het
Pik3r4	T	G	9: 105,554,089 (GRCm39)	I1082M	possibly damaging	Het
Plekhg5	T	A	4: 152,192,242 (GRCm39)	M472K	possibly damaging	Het
Plekhm1	T	C	11: 103,286,054 (GRCm39)	D127G	probably damaging	Het
Ppfia4	G	A	1: 134,239,853 (GRCm39)	S908L	probably damaging	Het
Psmc3	A	G	2: 90,885,391 (GRCm39)	N60S	probably benign	Het
Rapgef1	T	A	2: 29,616,226 (GRCm39)	D697E	probably damaging	Het
Rapgef3	T	A	15: 97,659,449 (GRCm39)	H54L	probably benign	Het
Rhobtb3	G	A	13: 76,020,572 (GRCm39)	R577*	probably null	Het
Safb2	T	C	17: 56,871,594 (GRCm39)	E218G	possibly damaging	Het
Scaf1	C	T	7: 44,657,850 (GRCm39)	R343H	probably damaging	Het
Snx24	G	A	18: 53,473,307 (GRCm39)		probably null	Het
Tbc1d1	T	C	5: 64,442,100 (GRCm39)	F707L	probably benign	Het
Tcaf2	T	C	6: 42,603,074 (GRCm39)	T829A	probably damaging	Het
Tcea2	C	T	2: 181,328,711 (GRCm39)	Q248*	probably null	Het
Tcirg1	A	T	19: 3,946,666 (GRCm39)	L729Q	probably damaging	Het
Thap3	A	G	4: 152,070,149 (GRCm39)	F82L	probably damaging	Het
Ttk	T	A	9: 83,750,145 (GRCm39)	M700K	probably damaging	Het
Ubap2l	G	T	3: 89,909,662 (GRCm39)	P56H	probably damaging	Het
Ubr2	A	G	17: 47,321,139 (GRCm39)	S3P	probably benign	Het
Uchl3	C	T	14: 101,923,128 (GRCm39)		probably benign	Het
Vmn2r111	T	A	17: 22,767,165 (GRCm39)	E777D	probably damaging	Het
Vmn2r20	A	T	6: 123,363,082 (GRCm39)	D567E	probably damaging	Het
Vps13c	T	G	9: 67,845,045 (GRCm39)	L2043R	probably damaging	Het
Zan	T	G	5: 137,398,396 (GRCm39)	D4212A	unknown	Het
Zap70	C	T	1: 36,817,832 (GRCm39)	P278S	probably benign	Het
Zbtb8b	A	T	4: 129,321,478 (GRCm39)	M461K	possibly damaging	Het
Zfat	T	G	15: 68,052,211 (GRCm39)	I528L	probably benign	Het
Zfp532	T	G	18: 65,771,834 (GRCm39)	V784G	probably benign	Het

Other mutations in Brd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Brd3	APN	2	27,354,101 (GRCm39)	missense	possibly damaging	0.53
IGL01685:Brd3	APN	2	27,349,500 (GRCm39)	missense	probably damaging	1.00
IGL01911:Brd3	APN	2	27,349,812 (GRCm39)	missense	probably damaging	1.00
IGL02105:Brd3	APN	2	27,349,788 (GRCm39)	missense	probably damaging	1.00
IGL02649:Brd3	APN	2	27,344,362 (GRCm39)	missense	probably damaging	1.00
IGL02715:Brd3	APN	2	27,344,495 (GRCm39)	missense	possibly damaging	0.66
IGL02825:Brd3	APN	2	27,339,275 (GRCm39)	missense	probably damaging	1.00
IGL02898:Brd3	APN	2	27,349,753 (GRCm39)	missense	possibly damaging	0.81
H8562:Brd3	UTSW	2	27,340,545 (GRCm39)	missense	possibly damaging	0.53
R1263:Brd3	UTSW	2	27,352,534 (GRCm39)	missense	probably damaging	1.00
R1449:Brd3	UTSW	2	27,347,028 (GRCm39)	missense	probably damaging	1.00
R1449:Brd3	UTSW	2	27,340,263 (GRCm39)	splice site	probably null
R4351:Brd3	UTSW	2	27,347,028 (GRCm39)	missense	probably damaging	1.00
R4840:Brd3	UTSW	2	27,339,251 (GRCm39)	missense	possibly damaging	0.94
R5049:Brd3	UTSW	2	27,340,589 (GRCm39)	intron	probably benign
R5131:Brd3	UTSW	2	27,343,427 (GRCm39)	missense	probably benign
R5185:Brd3	UTSW	2	27,352,460 (GRCm39)	missense	probably damaging	1.00
R5213:Brd3	UTSW	2	27,353,960 (GRCm39)	missense	possibly damaging	0.81
R5261:Brd3	UTSW	2	27,353,931 (GRCm39)	missense	probably damaging	0.99
R5326:Brd3	UTSW	2	27,340,556 (GRCm39)	missense	probably benign
R5661:Brd3	UTSW	2	27,351,584 (GRCm39)	missense	possibly damaging	0.68
R6439:Brd3	UTSW	2	27,353,938 (GRCm39)	missense	probably damaging	1.00
R6952:Brd3	UTSW	2	27,344,371 (GRCm39)	missense	probably damaging	1.00
R7103:Brd3	UTSW	2	27,340,406 (GRCm39)	missense	probably damaging	0.97
R7168:Brd3	UTSW	2	27,344,411 (GRCm39)	missense	possibly damaging	0.87
R7730:Brd3	UTSW	2	27,346,967 (GRCm39)	missense	probably damaging	1.00
R7960:Brd3	UTSW	2	27,342,945 (GRCm39)	missense	probably benign	0.03
R8272:Brd3	UTSW	2	27,351,725 (GRCm39)	missense	probably benign	0.33
R8695:Brd3	UTSW	2	27,352,558 (GRCm39)	missense	probably benign	0.02
R8959:Brd3	UTSW	2	27,354,013 (GRCm39)	missense	probably damaging	0.99
R9515:Brd3	UTSW	2	27,349,815 (GRCm39)	missense
R9594:Brd3	UTSW	2	27,340,373 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGCAGGATCTCACACAGGTAG -3'
(R):5'- ATTGCCAGATGCCTGACTG -3'

Sequencing Primer
(F):5'- CACAGGTAGTGGGCTGTG -3'
(R):5'- ATGTTCTGAGGATCTAAGTCTATCCC -3'

Posted On

2019-05-13