Mutagenetix > Incidental Mutation

Incidental Mutation 'R8012:Brd10'

616970

Institutional Source

Beutler Lab

Gene Symbol

Brd10

Ensembl Gene

ENSMUSG00000046138

Gene Name

bromodomain containing 10

Synonyms

9930021J03Rik, Gm9832

MMRRC Submission

046052-MU

Accession Numbers

Essential gene?

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

Stock #

R8012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29691802-29783389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29695534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1320 (S1320P)

Ref Sequence

ENSEMBL: ENSMUSP00000135473 (fasta)

Gene Model

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

AlphaFold

H3BKP8

Predicted Effect

probably benign
Transcript: ENSMUST00000175726
AA Change: S1264P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000175764
AA Change: S619P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000135031
Gene: ENSMUSG00000046138
AA Change: S619P

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: S1320P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135473
Gene: ENSMUSG00000046138
AA Change: S1320P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,429,972 (GRCm39)	D339V	possibly damaging	Het
Adam19	A	G	11: 45,955,873 (GRCm39)	E73G	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alas1	A	T	9: 106,123,962 (GRCm39)	N65K	probably benign	Het
Amigo1	T	A	3: 108,095,958 (GRCm39)	S486T	probably damaging	Het
Arid1a	A	G	4: 133,420,174 (GRCm39)	L591S	unknown	Het
Asic1	T	C	15: 99,594,532 (GRCm39)	V326A	possibly damaging	Het
Aspm	A	G	1: 139,385,202 (GRCm39)	N282S	probably benign	Het
Atad5	A	G	11: 79,985,066 (GRCm39)	D51G	probably damaging	Het
Cabp5	A	T	7: 13,141,706 (GRCm39)		probably null	Het
Cdca2	A	G	14: 67,914,821 (GRCm39)	C813R	probably benign	Het
Chpf2	A	T	5: 24,795,343 (GRCm39)	R289W	probably damaging	Het
Csf1r	A	T	18: 61,250,136 (GRCm39)	N367I	possibly damaging	Het
Cyp2c66	T	C	19: 39,172,369 (GRCm39)	F428S	probably damaging	Het
Dgkb	A	T	12: 38,189,485 (GRCm39)	N296I	probably benign	Het
Dhcr24	T	C	4: 106,443,853 (GRCm39)	F481S	probably damaging	Het
Diaph3	T	C	14: 87,274,958 (GRCm39)	Y166C	probably benign	Het
Dnah7b	A	T	1: 46,282,525 (GRCm39)	Q2886L	probably damaging	Het
Dock6	A	T	9: 21,757,807 (GRCm39)	V99E	probably benign	Het
F830045P16Rik	T	C	2: 129,316,352 (GRCm39)	D119G	possibly damaging	Het
Fasn	A	T	11: 120,702,428 (GRCm39)	L1773Q	probably damaging	Het
Filip1	A	T	9: 79,725,241 (GRCm39)	V1126E	probably damaging	Het
Fnta	T	C	8: 26,489,535 (GRCm39)	I359V	probably benign	Het
Hoxc10	T	C	15: 102,875,902 (GRCm39)	S204P	probably benign	Het
Kif26b	T	C	1: 178,743,815 (GRCm39)	C1304R	probably benign	Het
Lamc1	T	C	1: 153,097,358 (GRCm39)	E1562G	probably benign	Het
Lrguk	A	G	6: 34,033,038 (GRCm39)	N235D	probably benign	Het
Ly6g6f	T	C	17: 35,300,060 (GRCm39)	R263G	possibly damaging	Het
Mcrs1	C	A	15: 99,147,766 (GRCm39)	S47I	probably damaging	Het
Mx1	T	A	16: 97,258,572 (GRCm39)	I42F	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Nup188	T	A	2: 30,227,277 (GRCm39)	C1235S	possibly damaging	Het
Obsl1	T	A	1: 75,469,317 (GRCm39)	H1208L	probably benign	Het
Pcmt1	T	C	10: 7,516,527 (GRCm39)	D175G	probably benign	Het
Pcolce	T	C	5: 137,603,457 (GRCm39)	K459E	probably benign	Het
Pudp	T	G	18: 50,701,310 (GRCm39)	H141P	possibly damaging	Het
Rock2	T	C	12: 16,992,743 (GRCm39)	Y171H	probably damaging	Het
Rwdd1	A	C	10: 33,885,198 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,522,565 (GRCm39)	V1085A	probably benign	Het
Tie1	A	G	4: 118,343,678 (GRCm39)	L88P	possibly damaging	Het
Tmem131	T	C	1: 36,847,045 (GRCm39)	D1351G	probably damaging	Het
Tph1	A	T	7: 46,306,303 (GRCm39)	D219E	probably damaging	Het
Wdr86	A	G	5: 24,935,177 (GRCm39)		probably null	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
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
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'- CGAGCACATCACCATTTACTGC -3'
(R):5'- TTCCTCACAAGTAGCCGGAG -3'

Sequencing Primer
(F):5'- CTTCTGATCTTGTAACTGGGTAAC -3'
(R):5'- TAGCCGGAGTGACTACTACATCTAG -3'

Posted On

2020-01-23