Mutagenetix > Incidental Mutation

Incidental Mutation 'R5213:Brd3'

403229

Institutional Source

Beutler Lab

Gene Symbol

Brd3

Ensembl Gene

ENSMUSG00000026918

Gene Name

bromodomain containing 3

Synonyms

RINGL3, Fsrg2, ORFX, 2410084F24Rik

MMRRC Submission

042854-MU

Accession Numbers

Essential gene?

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

Stock #

R5213 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27335588-27397669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27353960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 51 (K51E)

Ref Sequence

ENSEMBL: ENSMUSP00000114422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028282] [ENSMUST00000077737] [ENSMUST00000113941] [ENSMUST00000138693] [ENSMUST00000147736] [ENSMUST00000154316] [ENSMUST00000164296]

AlphaFold

Q8K2F0

Predicted Effect

probably benign
Transcript: ENSMUST00000028282
AA Change: K51E

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028282
Gene: ENSMUSG00000026918
AA Change: K51E

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 benign
Transcript: ENSMUST00000077737
AA Change: K51E

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076918
Gene: ENSMUSG00000026918
AA Change: K51E

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 benign
Transcript: ENSMUST00000113941
AA Change: K51E

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109574
Gene: ENSMUSG00000026918
AA Change: K51E

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

noncoding transcript
Transcript: ENSMUST00000126059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130932

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138693
AA Change: K51E

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115755
Gene: ENSMUSG00000026918
AA Change: K51E

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

noncoding transcript
Transcript: ENSMUST00000144758

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147736
AA Change: K51E

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122009
Gene: ENSMUSG00000026918
AA Change: K51E

Domain	Start	End	E-Value	Type
BROMO	31	90	3.19e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154316
AA Change: K51E

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114422
Gene: ENSMUSG00000026918
AA Change: K51E

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 benign
Transcript: ENSMUST00000164296
AA Change: K51E

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128812
Gene: ENSMUSG00000026918
AA Change: K51E

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	A	4: 86,303,865 (GRCm39)	H1342N	possibly damaging	Het
Adcy2	G	T	13: 68,768,942 (GRCm39)	T1062K	possibly damaging	Het
Aqr	T	C	2: 113,943,808 (GRCm39)	N1110S	probably damaging	Het
Atp10a	C	T	7: 58,423,731 (GRCm39)	T232I	probably damaging	Het
Atp5pb	T	A	3: 105,863,227 (GRCm39)	K70*	probably null	Het
Atp8b4	A	C	2: 126,231,329 (GRCm39)		probably null	Het
Atraid	A	C	5: 31,209,552 (GRCm39)	Q72P	probably damaging	Het
Atxn2	G	T	5: 121,952,543 (GRCm39)		probably null	Het
Best3	A	T	10: 116,860,377 (GRCm39)	T546S	probably benign	Het
Brip1	A	G	11: 86,034,147 (GRCm39)	S525P	possibly damaging	Het
Cenpf	A	G	1: 189,387,177 (GRCm39)	I1701T	probably benign	Het
Chrna9	A	T	5: 66,128,427 (GRCm39)	K208*	probably null	Het
Clec2l	T	A	6: 38,657,127 (GRCm39)	C197S	probably damaging	Het
Crp	A	G	1: 172,526,086 (GRCm39)	H57R	probably benign	Het
Cyp27b1	C	A	10: 126,887,964 (GRCm39)	T492N	probably damaging	Het
Dock4	A	T	12: 40,726,741 (GRCm39)	I340F	probably damaging	Het
Dsg1b	A	T	18: 20,528,987 (GRCm39)	D241V	probably damaging	Het
Epg5	G	T	18: 78,058,049 (GRCm39)	V1865L	probably benign	Het
Erap1	A	G	13: 74,819,614 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,144,658 (GRCm39)	C4072Y	probably benign	Het
Fat4	T	A	3: 39,034,340 (GRCm39)	I2664N	possibly damaging	Het
Gabrp	A	G	11: 33,517,211 (GRCm39)		probably null	Het
Glis2	G	T	16: 4,431,946 (GRCm39)		probably benign	Het
Gm17654	A	G	14: 43,816,559 (GRCm39)	S15P	probably damaging	Het
Gm21836	A	G	9: 124,252,736 (GRCm39)	V14A	unknown	Het
Gon7	G	A	12: 102,720,380 (GRCm39)	T84I	possibly damaging	Het
Greb1	G	T	12: 16,764,791 (GRCm39)	Y447*	probably null	Het
Grip2	A	T	6: 91,756,812 (GRCm39)	D546E	probably benign	Het
Hectd1	A	G	12: 51,849,316 (GRCm39)		probably null	Het
Il36a	T	A	2: 24,114,486 (GRCm39)	F120L	probably damaging	Het
Itga4	T	C	2: 79,150,920 (GRCm39)	V842A	probably benign	Het
Khsrp	G	A	17: 57,331,366 (GRCm39)	A404V	probably benign	Het
Map3k11	T	C	19: 5,740,669 (GRCm39)	V132A	probably damaging	Het
Mcub	A	C	3: 129,710,646 (GRCm39)	F262C	probably benign	Het
Msantd5f6	G	T	4: 73,319,571 (GRCm39)	Q302K	probably damaging	Het
Mysm1	A	T	4: 94,836,614 (GRCm39)	V732E	probably damaging	Het
Npr2	T	A	4: 43,640,673 (GRCm39)		probably null	Het
Or10d5	A	C	9: 39,861,389 (GRCm39)	I226S	probably damaging	Het
Or12d12	T	C	17: 37,610,942 (GRCm39)	I124V	probably damaging	Het
Or5k1b	T	C	16: 58,580,984 (GRCm39)	Y185C	probably damaging	Het
Oxgr1	G	T	14: 120,259,552 (GRCm39)	Y218*	probably null	Het
Paf1	A	G	7: 28,095,397 (GRCm39)	Q161R	possibly damaging	Het
Pck1	A	T	2: 172,997,878 (GRCm39)	K316*	probably null	Het
Plac8	T	A	5: 100,704,371 (GRCm39)	M109L	probably benign	Het
Plagl2	A	T	2: 153,074,239 (GRCm39)	C221S	probably damaging	Het
Polg	T	C	7: 79,103,846 (GRCm39)	D870G	probably damaging	Het
Polr2k	T	A	15: 36,175,143 (GRCm39)	M1K	probably null	Het
Prdm9	T	C	17: 15,775,416 (GRCm39)	H276R	probably damaging	Het
Resf1	C	A	6: 149,227,551 (GRCm39)	P199Q	possibly damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Serpina3i	A	G	12: 104,231,914 (GRCm39)	I184V	probably benign	Het
Shank3	A	G	15: 89,417,481 (GRCm39)	E26G	possibly damaging	Het
Skil	T	C	3: 31,171,600 (GRCm39)	S575P	probably damaging	Het
Slc13a1	A	G	6: 24,108,158 (GRCm39)	L306P	probably damaging	Het
Slc20a1	G	T	2: 129,042,429 (GRCm39)	W166L	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Snrnp200	G	T	2: 127,073,661 (GRCm39)	G1353V	probably damaging	Het
Spata6l	A	T	19: 28,940,964 (GRCm39)	V50E	probably benign	Het
Sphkap	A	G	1: 83,258,224 (GRCm39)	I173T	probably damaging	Het
Stab2	A	T	10: 86,743,061 (GRCm39)	F1183I	probably damaging	Het
Stard9	A	G	2: 120,529,707 (GRCm39)	D1988G	probably damaging	Het
Tank	T	A	2: 61,480,292 (GRCm39)	I276N	probably benign	Het
Tcaf3	A	G	6: 42,568,401 (GRCm39)	W652R	probably damaging	Het
Tgm2	G	A	2: 157,984,980 (GRCm39)	T42I	possibly damaging	Het
Tnni2	G	T	7: 141,997,039 (GRCm39)		probably null	Het
Tns1	A	G	1: 73,992,771 (GRCm39)	S9P	probably damaging	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Trdv2-1	T	C	14: 54,183,863 (GRCm39)	S32P	probably benign	Het
Trim24	T	C	6: 37,934,010 (GRCm39)	I651T	probably damaging	Het
Trpm3	T	G	19: 22,674,818 (GRCm39)	Y72*	probably null	Het
Ube2o	G	A	11: 116,432,285 (GRCm39)	P894S	possibly damaging	Het
Ubr4	C	T	4: 139,129,877 (GRCm39)	R666*	probably null	Het
Ugt1a8	T	A	1: 88,015,845 (GRCm39)	L86*	probably null	Het
Usp32	T	A	11: 84,913,085 (GRCm39)	N941I	probably damaging	Het
Utrn	C	T	10: 12,512,504 (GRCm39)	V2322M	probably damaging	Het
Vmn1r184	A	T	7: 25,967,136 (GRCm39)	Y294F	probably damaging	Het
Vmn2r108	T	C	17: 20,691,755 (GRCm39)	N256S	probably benign	Het
Wdr7	T	C	18: 63,888,197 (GRCm39)	S557P	probably damaging	Het
Xrra1	C	A	7: 99,547,690 (GRCm39)	P293Q	possibly damaging	Het
Zc3h18	A	G	8: 123,110,388 (GRCm39)	D79G	probably damaging	Het
Zfp74	A	T	7: 29,634,668 (GRCm39)	Y347N	probably damaging	Het
Zfp740	T	C	15: 102,121,082 (GRCm39)	C169R	possibly damaging	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
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
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'- CATGGAGGCTGTAGGTTCTC -3'
(R):5'- AAATGGGATGCCAAGCCTC -3'

Sequencing Primer
(F):5'- CCCCATTTCTTGTACTAGGGG -3'
(R):5'- CTGTGACAGCAAGTGACTAAGCTG -3'

Posted On

2016-07-22