Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Brd3'

558033

Institutional Source

Beutler Lab

Gene Symbol

Brd3

Ensembl Gene

ENSMUSG00000026918

Gene Name

bromodomain containing 3

Synonyms

RINGL3, Fsrg2, ORFX, 2410084F24Rik

MMRRC Submission

045263-MU

Accession Numbers

Essential gene?

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

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27335588-27397669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27344411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 440 (R440C)

Ref Sequence

ENSEMBL: ENSMUSP00000076918 (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: R440C

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028282
Gene: ENSMUSG00000026918
AA Change: R440C

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: R440C

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076918
Gene: ENSMUSG00000026918
AA Change: R440C

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: R440C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109574
Gene: ENSMUSG00000026918
AA Change: R440C

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: R440C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115755
Gene: ENSMUSG00000026918
AA Change: R440C

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: R440C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114422
Gene: ENSMUSG00000026918
AA Change: R440C

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: R440C

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128812
Gene: ENSMUSG00000026918
AA Change: R440C

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abcb10	A	T	8: 124,693,350 (GRCm39)	L318Q		Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Arid3b	A	T	9: 57,712,818 (GRCm39)	D232E	probably benign	Het
Asic5	G	A	3: 81,919,282 (GRCm39)	C342Y	probably damaging	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Eml6	T	A	11: 29,788,529 (GRCm39)	I519F	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Lvrn	A	C	18: 47,014,389 (GRCm39)	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,513,946 (GRCm39)	V241D	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
Pwp1	G	T	10: 85,720,401 (GRCm39)	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc1a3	G	T	15: 8,675,386 (GRCm39)	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,574,791 (GRCm39)	Y337C	probably 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
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
R7103:Brd3	UTSW	2	27,340,406 (GRCm39)	missense	probably damaging	0.97
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'- GAAGGTTCTGTGAGCAACCC -3'
(R):5'- CCACCGAGGTGCATCTTATATG -3'

Sequencing Primer
(F):5'- TTCTGTGAGCAACCCCACCAG -3'
(R):5'- CATCTTATATGCTAGAGGGGCTACC -3'

Posted On

2019-06-26