Mutagenetix > Incidental Mutation

Incidental Mutation 'R0020:Brd10'

64753

Institutional Source

Beutler Lab

Gene Symbol

Brd10

Ensembl Gene

ENSMUSG00000046138

Gene Name

bromodomain containing 10

Synonyms

9930021J03Rik, Gm9832

MMRRC Submission

038315-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R0020 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

29691802-29783389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29693597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2032 (D2032E)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177155]

AlphaFold

H3BKP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059484
AA Change: D2032E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054060
Gene: ENSMUSG00000046138
AA Change: D2032E

Domain	Start	End	E-Value	Type
low complexity region	4	66	N/A	INTRINSIC
BROMO	75	198	1.22e-3	SMART
low complexity region	225	235	N/A	INTRINSIC
coiled coil region	248	289	N/A	INTRINSIC
low complexity region	347	365	N/A	INTRINSIC
low complexity region	495	508	N/A	INTRINSIC
coiled coil region	673	705	N/A	INTRINSIC
low complexity region	722	756	N/A	INTRINSIC
coiled coil region	764	796	N/A	INTRINSIC
low complexity region	1146	1160	N/A	INTRINSIC
internal_repeat_1	1164	1293	9.57e-8	PROSPERO
low complexity region	1295	1304	N/A	INTRINSIC
low complexity region	1386	1415	N/A	INTRINSIC
low complexity region	1468	1483	N/A	INTRINSIC
low complexity region	1602	1624	N/A	INTRINSIC
low complexity region	1647	1663	N/A	INTRINSIC
low complexity region	1732	1745	N/A	INTRINSIC
internal_repeat_1	1766	1910	9.57e-8	PROSPERO
low complexity region	1987	1993	N/A	INTRINSIC
low complexity region	2013	2027	N/A	INTRINSIC
low complexity region	2053	2071	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000175726
AA Change: D1909E

Predicted Effect

unknown
Transcript: ENSMUST00000175764
AA Change: D1264E

SMART Domains

Protein: ENSMUSP00000135031
Gene: ENSMUSG00000046138
AA Change: D1264E

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	379	393	N/A	INTRINSIC
internal_repeat_1	397	526	2.65e-5	PROSPERO
low complexity region	528	537	N/A	INTRINSIC
low complexity region	619	648	N/A	INTRINSIC
low complexity region	701	716	N/A	INTRINSIC
low complexity region	835	857	N/A	INTRINSIC
low complexity region	880	896	N/A	INTRINSIC
low complexity region	965	978	N/A	INTRINSIC
internal_repeat_1	999	1143	2.65e-5	PROSPERO
low complexity region	1220	1226	N/A	INTRINSIC
low complexity region	1246	1260	N/A	INTRINSIC
low complexity region	1286	1304	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176773

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177155
AA Change: D1965E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135473
Gene: ENSMUSG00000046138
AA Change: D1965E

Domain	Start	End	E-Value	Type
low complexity region	4	66	N/A	INTRINSIC
BROMO	75	198	1.22e-3	SMART
low complexity region	205	219	N/A	INTRINSIC
low complexity region	280	298	N/A	INTRINSIC
low complexity region	428	441	N/A	INTRINSIC
coiled coil region	606	638	N/A	INTRINSIC
low complexity region	655	689	N/A	INTRINSIC
coiled coil region	697	729	N/A	INTRINSIC
low complexity region	1079	1093	N/A	INTRINSIC
internal_repeat_1	1097	1226	1.32e-7	PROSPERO
low complexity region	1228	1237	N/A	INTRINSIC
low complexity region	1319	1348	N/A	INTRINSIC
low complexity region	1401	1416	N/A	INTRINSIC
low complexity region	1535	1557	N/A	INTRINSIC
low complexity region	1580	1596	N/A	INTRINSIC
low complexity region	1665	1678	N/A	INTRINSIC
internal_repeat_1	1699	1843	1.32e-7	PROSPERO
low complexity region	1920	1926	N/A	INTRINSIC
low complexity region	1946	1960	N/A	INTRINSIC
low complexity region	1986	2004	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.4%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	T	C	10: 67,383,927 (GRCm39)	D226G	probably benign	Het
Agfg2	C	T	5: 137,652,064 (GRCm39)	V432M	probably benign	Het
Atf2	T	C	2: 73,676,628 (GRCm39)	D122G	possibly damaging	Het
Cd2bp2	G	A	7: 126,792,996 (GRCm39)	T342M	probably damaging	Het
Cip2a	A	T	16: 48,821,975 (GRCm39)	H201L	probably damaging	Het
Col6a3	T	A	1: 90,739,272 (GRCm39)	I319F	probably damaging	Het
Cst11	T	A	2: 148,613,253 (GRCm39)	Y24F	probably damaging	Het
Cstb	T	A	10: 78,263,170 (GRCm39)	V65E	probably benign	Het
Cyp2j11	G	A	4: 96,195,641 (GRCm39)	H352Y	probably benign	Het
D130043K22Rik	T	A	13: 25,038,475 (GRCm39)		probably benign	Het
Dbh	A	G	2: 27,060,584 (GRCm39)		probably benign	Het
Dhdh	T	C	7: 45,137,528 (GRCm39)	K53R	probably benign	Het
Drc3	A	G	11: 60,261,371 (GRCm39)	Y174C	probably damaging	Het
Ezr	G	T	17: 7,010,126 (GRCm39)	Q308K	probably damaging	Het
F3	A	T	3: 121,525,265 (GRCm39)	N169Y	probably damaging	Het
Fbn2	G	T	18: 58,238,236 (GRCm39)	T587K	probably damaging	Het
Fhl5	A	T	4: 25,200,054 (GRCm39)	V260E	probably benign	Het
Glyr1	A	G	16: 4,854,913 (GRCm39)	I55T	probably damaging	Het
Gm12695	G	C	4: 96,657,972 (GRCm39)	P66A	probably damaging	Het
Gon4l	G	T	3: 88,766,244 (GRCm39)	V428L	probably damaging	Het
Ighv6-5	T	C	12: 114,380,241 (GRCm39)	D92G	probably null	Het
Inhba	A	C	13: 16,200,949 (GRCm39)	K170N	possibly damaging	Het
Kng2	A	G	16: 22,816,046 (GRCm39)	V317A	probably benign	Het
Larp1	T	A	11: 57,940,849 (GRCm39)	D658E	probably damaging	Het
Map3k14	T	C	11: 103,118,500 (GRCm39)	E562G	probably damaging	Het
Megf10	G	T	18: 57,420,965 (GRCm39)	V868F	possibly damaging	Het
Nap1l1	A	C	10: 111,326,884 (GRCm39)	E148D	probably benign	Het
Nlrp4a	A	T	7: 26,149,797 (GRCm39)	H468L	probably damaging	Het
Nphs1	G	T	7: 30,162,633 (GRCm39)	V357L	probably benign	Het
Or10aa3	T	A	1: 173,878,413 (GRCm39)	V158E	probably damaging	Het
Pclo	A	G	5: 14,719,687 (GRCm39)	T1275A	unknown	Het
Pde4d	T	A	13: 110,091,104 (GRCm39)	C35S	possibly damaging	Het
Pkd1l1	A	G	11: 8,825,765 (GRCm39)		probably benign	Het
Pkd2	A	G	5: 104,651,382 (GRCm39)	E910G	probably damaging	Het
Pot1b	T	A	17: 55,960,429 (GRCm39)	M634L	probably benign	Het
Ppp2r5c	C	T	12: 110,541,257 (GRCm39)	Q469*	probably null	Het
Ppp6r2	T	A	15: 89,143,342 (GRCm39)	M163K	probably damaging	Het
Prss43	C	A	9: 110,657,580 (GRCm39)		probably benign	Het
Rb1cc1	C	A	1: 6,334,772 (GRCm39)	N1444K	possibly damaging	Het
Rimoc1	T	C	15: 4,021,350 (GRCm39)		probably benign	Het
Scube2	A	G	7: 109,430,095 (GRCm39)		probably benign	Het
Slamf9	T	C	1: 172,303,082 (GRCm39)	S7P	possibly damaging	Het
Slc35b2	T	A	17: 45,877,782 (GRCm39)	M303K	probably damaging	Het
Slc4a7	T	A	14: 14,796,108 (GRCm38)	F1116I	probably benign	Het
Slco1a8	A	T	6: 141,918,076 (GRCm39)	V600E	possibly damaging	Het
Smarcad1	T	A	6: 65,060,991 (GRCm39)		probably benign	Het
Tamalin	T	C	15: 101,128,433 (GRCm39)	V157A	probably damaging	Het
Tns3	A	C	11: 8,495,227 (GRCm39)		probably null	Het
Zfp282	T	G	6: 47,856,943 (GRCm39)	W59G	probably damaging	Het
Zfp746	C	A	6: 48,041,641 (GRCm39)	A362S	probably benign	Het

Other mutations in Brd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Brd10	APN	19	29,731,420 (GRCm39)	missense	probably benign	0.33
IGL01535:Brd10	APN	19	29,731,212 (GRCm39)	missense	possibly damaging	0.53
IGL02019:Brd10	APN	19	29,694,463 (GRCm39)	missense	probably benign	0.28
IGL02034:Brd10	APN	19	29,694,259 (GRCm39)	missense	possibly damaging	0.73
IGL03114:Brd10	APN	19	29,694,532 (GRCm39)	missense	probably benign	0.18
IGL03382:Brd10	APN	19	29,694,676 (GRCm39)	missense	probably damaging	1.00
R0020:Brd10	UTSW	19	29,693,597 (GRCm39)	missense	probably damaging	0.98
R0142:Brd10	UTSW	19	29,695,654 (GRCm39)	missense	possibly damaging	0.93
R0178:Brd10	UTSW	19	29,732,188 (GRCm39)	missense	probably damaging	1.00
R0453:Brd10	UTSW	19	29,731,068 (GRCm39)	missense	probably damaging	1.00
R0730:Brd10	UTSW	19	29,695,381 (GRCm39)	missense	probably benign	0.00
R0735:Brd10	UTSW	19	29,695,038 (GRCm39)	missense	possibly damaging	0.92
R0891:Brd10	UTSW	19	29,695,053 (GRCm39)	missense	probably damaging	1.00
R0894:Brd10	UTSW	19	29,697,974 (GRCm39)	splice site	probably benign
R1289:Brd10	UTSW	19	29,700,852 (GRCm39)	missense	probably benign	0.07
R1368:Brd10	UTSW	19	29,693,796 (GRCm39)	missense	probably damaging	0.97
R1387:Brd10	UTSW	19	29,700,853 (GRCm39)	missense	probably benign	0.15
R1483:Brd10	UTSW	19	29,696,745 (GRCm39)	missense	possibly damaging	0.93
R1526:Brd10	UTSW	19	29,712,545 (GRCm39)	missense	probably damaging	1.00
R1612:Brd10	UTSW	19	29,695,245 (GRCm39)	missense	possibly damaging	0.86
R1721:Brd10	UTSW	19	29,720,998 (GRCm39)	missense	probably damaging	0.99
R1764:Brd10	UTSW	19	29,696,560 (GRCm39)	missense	possibly damaging	0.53
R1822:Brd10	UTSW	19	29,693,814 (GRCm39)	missense	probably damaging	0.99
R1824:Brd10	UTSW	19	29,693,814 (GRCm39)	missense	probably damaging	0.99
R1859:Brd10	UTSW	19	29,732,323 (GRCm39)	missense	possibly damaging	0.53
R1868:Brd10	UTSW	19	29,720,998 (GRCm39)	missense	probably damaging	0.99
R1880:Brd10	UTSW	19	29,695,523 (GRCm39)	missense	probably benign	0.06
R1898:Brd10	UTSW	19	29,712,532 (GRCm39)	missense	possibly damaging	0.74
R1936:Brd10	UTSW	19	29,731,077 (GRCm39)	missense	possibly damaging	0.87
R1939:Brd10	UTSW	19	29,731,077 (GRCm39)	missense	possibly damaging	0.87
R1969:Brd10	UTSW	19	29,694,075 (GRCm39)	missense	possibly damaging	0.95
R2153:Brd10	UTSW	19	29,694,229 (GRCm39)	missense	probably benign	0.01
R2366:Brd10	UTSW	19	29,731,035 (GRCm39)	missense	probably damaging	0.99
R2379:Brd10	UTSW	19	29,696,275 (GRCm39)	missense	probably benign	0.01
R3107:Brd10	UTSW	19	29,700,847 (GRCm39)	missense	probably damaging	1.00
R4012:Brd10	UTSW	19	29,720,990 (GRCm39)	missense	probably damaging	1.00
R4222:Brd10	UTSW	19	29,696,149 (GRCm39)	missense	probably benign	0.18
R4328:Brd10	UTSW	19	29,720,961 (GRCm39)	missense	probably benign	0.00
R4329:Brd10	UTSW	19	29,720,961 (GRCm39)	missense	probably benign	0.00
R4387:Brd10	UTSW	19	29,782,715 (GRCm39)	unclassified	probably benign
R4688:Brd10	UTSW	19	29,694,501 (GRCm39)	missense	probably benign	0.33
R4796:Brd10	UTSW	19	29,731,018 (GRCm39)	missense	probably benign	0.33
R4820:Brd10	UTSW	19	29,695,809 (GRCm39)	missense	possibly damaging	0.53
R4832:Brd10	UTSW	19	29,694,616 (GRCm39)	missense	possibly damaging	0.53
R5056:Brd10	UTSW	19	29,694,759 (GRCm39)	missense	probably benign
R5150:Brd10	UTSW	19	29,782,950 (GRCm39)	missense	probably damaging	0.96
R5224:Brd10	UTSW	19	29,696,450 (GRCm39)	missense	possibly damaging	0.73
R5306:Brd10	UTSW	19	29,707,230 (GRCm39)	intron	probably benign
R5460:Brd10	UTSW	19	29,732,250 (GRCm39)	missense	probably damaging	0.98
R5477:Brd10	UTSW	19	29,731,518 (GRCm39)	missense	probably benign	0.33
R5531:Brd10	UTSW	19	29,731,072 (GRCm39)	missense	possibly damaging	0.73
R5559:Brd10	UTSW	19	29,694,363 (GRCm39)	missense	possibly damaging	0.91
R5647:Brd10	UTSW	19	29,731,210 (GRCm39)	missense	possibly damaging	0.73
R5886:Brd10	UTSW	19	29,696,677 (GRCm39)	missense	probably benign	0.03
R6029:Brd10	UTSW	19	29,732,367 (GRCm39)	unclassified	probably benign
R6240:Brd10	UTSW	19	29,694,640 (GRCm39)	missense	probably benign	0.18
R6331:Brd10	UTSW	19	29,695,147 (GRCm39)	missense	probably benign	0.33
R6456:Brd10	UTSW	19	29,693,914 (GRCm39)	missense	possibly damaging	0.93
R6584:Brd10	UTSW	19	29,696,128 (GRCm39)	missense	possibly damaging	0.53
R6661:Brd10	UTSW	19	29,700,864 (GRCm39)	missense	possibly damaging	0.53
R6991:Brd10	UTSW	19	29,696,508 (GRCm39)	missense	possibly damaging	0.86
R7059:Brd10	UTSW	19	29,696,945 (GRCm39)	missense	probably benign	0.33
R7128:Brd10	UTSW	19	29,693,881 (GRCm39)	missense	possibly damaging	0.53
R7211:Brd10	UTSW	19	29,763,712 (GRCm39)	missense
R7471:Brd10	UTSW	19	29,707,139 (GRCm39)	splice site	probably null
R7686:Brd10	UTSW	19	29,694,870 (GRCm39)	missense	probably benign	0.34
R8012:Brd10	UTSW	19	29,695,534 (GRCm39)	missense	possibly damaging	0.73
R8203:Brd10	UTSW	19	29,693,443 (GRCm39)	missense	probably benign	0.18
R8353:Brd10	UTSW	19	29,731,242 (GRCm39)	missense	possibly damaging	0.53
R8672:Brd10	UTSW	19	29,731,564 (GRCm39)	missense	probably benign
R8755:Brd10	UTSW	19	29,693,890 (GRCm39)	missense	probably benign	0.03
R8918:Brd10	UTSW	19	29,696,841 (GRCm39)	missense	possibly damaging	0.53
R8954:Brd10	UTSW	19	29,696,126 (GRCm39)	missense	possibly damaging	0.72
R9038:Brd10	UTSW	19	29,731,900 (GRCm39)	missense	possibly damaging	0.86
R9195:Brd10	UTSW	19	29,763,703 (GRCm39)	missense
R9204:Brd10	UTSW	19	29,696,938 (GRCm39)	missense	possibly damaging	0.73
R9518:Brd10	UTSW	19	29,731,541 (GRCm39)	missense	possibly damaging	0.53
R9743:Brd10	UTSW	19	29,694,261 (GRCm39)	missense	probably benign
R9747:Brd10	UTSW	19	29,731,911 (GRCm39)	missense	possibly damaging	0.73
RF011:Brd10	UTSW	19	29,721,009 (GRCm39)	missense	possibly damaging	0.53
X0027:Brd10	UTSW	19	29,712,599 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGGCTTCTCTAAAGCAGATGACGG -3'
(R):5'- ACCTTTGGCACCAGGAACTCAAATC -3'

Sequencing Primer
(F):5'- CTTCTCTAAAGCAGATGACGGAAAAG -3'
(R):5'- TGTAAACTCTCTCGGAAGTCCAAG -3'

Posted On

2013-08-06