Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Brd3'

550972

Institutional Source

Beutler Lab

Gene Symbol

Brd3

Ensembl Gene

ENSMUSG00000026918

Gene Name

bromodomain containing 3

Synonyms

RINGL3, Fsrg2, ORFX, 2410084F24Rik

MMRRC Submission

045195-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.478) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27335588-27397669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27340406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 601 (Q601L)

Ref Sequence

ENSEMBL: ENSMUSP00000076918 (fasta)

Gene Model

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

AlphaFold

Q8K2F0

Predicted Effect

probably damaging
Transcript: ENSMUST00000028282
AA Change: Q601L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028282
Gene: ENSMUSG00000026918
AA Change: Q601L

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: ENSMUST00000077737
AA Change: Q601L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076918
Gene: ENSMUSG00000026918
AA Change: Q601L

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: Q618L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109574
Gene: ENSMUSG00000026918
AA Change: Q618L

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: Q618L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115755
Gene: ENSMUSG00000026918
AA Change: Q618L

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: Q618L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114422
Gene: ENSMUSG00000026918
AA Change: Q618L

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: ENSMUST00000164296
AA Change: Q601L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128812
Gene: ENSMUSG00000026918
AA Change: Q601L

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

Meta Mutation Damage Score

0.7807

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,628,181 (GRCm39)	T294A	probably damaging	Het
Adamtsl2	G	A	2: 26,997,473 (GRCm39)	V893I	probably damaging	Het
Amph	T	A	13: 19,333,908 (GRCm39)	D656E	probably benign	Het
Aoah	T	C	13: 21,207,485 (GRCm39)	F568S	probably damaging	Het
Atr	G	A	9: 95,747,425 (GRCm39)	G236S	probably damaging	Het
Ccar2	T	C	14: 70,379,426 (GRCm39)	E524G	probably damaging	Het
Cog2	T	C	8: 125,267,853 (GRCm39)		probably null	Het
Csnka2ip	C	A	16: 64,299,120 (GRCm39)	V415F	unknown	Het
Dmp1	A	T	5: 104,359,729 (GRCm39)	D135V	probably damaging	Het
Dtna	T	C	18: 23,786,436 (GRCm39)		probably null	Het
Endou	A	G	15: 97,616,810 (GRCm39)	S238P	probably damaging	Het
Ep400	T	A	5: 110,881,651 (GRCm39)	E779D	unknown	Het
Fcgbp	A	G	7: 27,784,387 (GRCm39)	E149G	probably benign	Het
G6pc1	C	A	11: 101,265,413 (GRCm39)		probably null	Het
Gmeb1	T	C	4: 131,962,179 (GRCm39)	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,312,902 (GRCm39)	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,161,793 (GRCm39)	G199D	probably benign	Het
Hoxb2	T	C	11: 96,244,447 (GRCm39)	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,226,572 (GRCm39)	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,673,648 (GRCm39)		probably null	Het
Kcnmb4	T	C	10: 116,309,164 (GRCm39)	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,005,507 (GRCm39)	Y89C	probably damaging	Het
Kif23	T	A	9: 61,827,174 (GRCm39)	K892N	probably damaging	Het
Lama3	T	A	18: 12,664,936 (GRCm39)	S646T	probably benign	Het
Lig3	T	A	11: 82,688,138 (GRCm39)	M709K	probably benign	Het
Mindy3	C	A	2: 12,405,885 (GRCm39)	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,196,057 (GRCm39)	E569G	possibly damaging	Het
Misp	T	A	10: 79,662,999 (GRCm39)	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,443,330 (GRCm39)	T303S	probably damaging	Het
Msh3	T	G	13: 92,411,308 (GRCm39)	I630L	probably benign	Het
Muc21	C	A	17: 35,932,432 (GRCm39)	A585S	unknown	Het
Myo16	A	G	8: 10,619,673 (GRCm39)	Y1408C	unknown	Het
N4bp2	T	C	5: 65,964,189 (GRCm39)	V746A	probably benign	Het
Oga	G	A	19: 45,771,605 (GRCm39)		probably benign	Het
Or4c120	A	G	2: 89,000,827 (GRCm39)	I243T	possibly damaging	Het
Or4d11	A	G	19: 12,013,752 (GRCm39)	M118T	probably damaging	Het
Or5p56	A	G	7: 107,589,805 (GRCm39)	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,573,715 (GRCm39)	M44I	probably null	Het
Pik3c2b	T	G	1: 133,033,712 (GRCm39)	L1572R	probably damaging	Het
Pilra	T	C	5: 137,829,488 (GRCm39)	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,437,027 (GRCm39)	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,113,429 (GRCm39)	D619G	probably benign	Het
Pramel31	C	T	4: 144,090,297 (GRCm39)	R446C	probably benign	Het
Ptprb	T	A	10: 116,174,718 (GRCm39)	Y797N	probably damaging	Het
Rb1	T	C	14: 73,500,084 (GRCm39)	D521G	probably damaging	Het
Rnf17	T	G	14: 56,708,763 (GRCm39)	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,218,787 (GRCm39)	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,244,693 (GRCm39)	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,701,201 (GRCm39)	V634A	probably benign	Het
Spam1	A	G	6: 24,800,583 (GRCm39)	M441V	probably benign	Het
Teddm3	A	C	16: 20,971,729 (GRCm39)	L280*	probably null	Het
Tmem231	T	C	8: 112,645,517 (GRCm39)		probably null	Het
Tom1l1	T	C	11: 90,561,907 (GRCm39)		probably null	Het
Topors	C	T	4: 40,261,706 (GRCm39)	G526D	probably benign	Het
Trpm6	A	T	19: 18,790,911 (GRCm39)	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,664,440 (GRCm39)	M66L	probably benign	Het
Tubgcp6	A	G	15: 88,985,232 (GRCm39)	F1619L	probably damaging	Het
Vps13d	G	T	4: 144,842,062 (GRCm39)	A2619E		Het
Vps8	G	A	16: 21,345,191 (GRCm39)	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,799 (GRCm39)	M86L	probably benign	Het
Zfp64	A	T	2: 168,768,357 (GRCm39)	D418E	probably benign	Het
Zfp952	C	T	17: 33,222,606 (GRCm39)	P362S	possibly damaging	Het
Zglp1	T	C	9: 20,977,368 (GRCm39)	E149G	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
R7039:Brd3	UTSW	2	27,346,929 (GRCm39)	missense	probably damaging	0.96
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'- GAATGCACTTGCTGAGCAC -3'
(R):5'- TGTCTTCTGCCTCAGACAGC -3'

Sequencing Primer
(F):5'- ACTTGCTGAGCACAGACGTC -3'
(R):5'- TTCTGCCTCAGACAGCTCAAG -3'

Posted On

2019-05-15