Mutagenetix > Incidental Mutation

Incidental Mutation 'R5647:Brd10'

441250

Institutional Source

Beutler Lab

Gene Symbol

Brd10

Ensembl Gene

ENSMUSG00000046138

Gene Name

bromodomain containing 10

Synonyms

9930021J03Rik, Gm9832

MMRRC Submission

043295-MU

Accession Numbers

Essential gene?

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

Stock #

R5647 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29691802-29783389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29731210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 601 (S601P)

Ref Sequence

ENSEMBL: ENSMUSP00000135473 (fasta)

Gene Model

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

AlphaFold

H3BKP8

Predicted Effect

unknown
Transcript: ENSMUST00000175726
AA Change: S545P

Predicted Effect

probably benign
Transcript: ENSMUST00000175764

SMART Domains

Protein: ENSMUSP00000135031
Gene: ENSMUSG00000046138

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: S601P

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

SMART Domains

Protein: ENSMUSP00000135473
Gene: ENSMUSG00000046138
AA Change: S601P

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

0.1120

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	C	7: 82,505,606 (GRCm39)		noncoding transcript	Het
9330159F19Rik	A	T	10: 29,101,250 (GRCm39)	D541V	probably damaging	Het
Abcc5	T	C	16: 20,218,597 (GRCm39)	I262V	probably damaging	Het
Acvr1c	T	A	2: 58,185,976 (GRCm39)	D169V	probably damaging	Het
Aldh16a1	A	G	7: 44,803,889 (GRCm39)	V6A	probably benign	Het
Cd36	A	C	5: 18,019,763 (GRCm39)	S113A	probably damaging	Het
Cdt1	G	T	8: 123,296,947 (GRCm39)	R247L	possibly damaging	Het
Ces4a	G	A	8: 105,872,712 (GRCm39)	V322M	probably benign	Het
Cngb3	A	T	4: 19,364,266 (GRCm39)	T157S	possibly damaging	Het
Cpped1	T	C	16: 11,646,010 (GRCm39)		probably benign	Het
Ctr9	G	T	7: 110,654,751 (GRCm39)	R1094L	unknown	Het
Cyld	A	T	8: 89,461,554 (GRCm39)	I664L	probably benign	Het
Dvl2	C	T	11: 69,900,275 (GRCm39)	P690S	possibly damaging	Het
Fbxo7	A	C	10: 85,864,974 (GRCm39)	E94D	probably damaging	Het
Fstl5	A	C	3: 76,496,399 (GRCm39)	K387N	probably damaging	Het
Gm9845	A	C	3: 39,412,520 (GRCm39)		noncoding transcript	Het
Hk1	T	C	10: 62,111,523 (GRCm39)	D746G	probably damaging	Het
Lmbr1	A	G	5: 29,468,391 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,350,258 (GRCm39)	A705T	probably null	Het
Lrrc37	T	C	11: 103,508,300 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,952,067 (GRCm39)		probably null	Het
Myo15b	T	A	11: 115,762,337 (GRCm39)	L1219Q	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Or4g16	G	T	2: 111,137,392 (GRCm39)	A281S	possibly damaging	Het
Or5b111	A	T	19: 13,291,553 (GRCm39)	I32N	probably damaging	Het
Or5b113	T	C	19: 13,342,541 (GRCm39)	V183A	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pcnt	T	C	10: 76,221,675 (GRCm39)	T1984A	probably benign	Het
Plcg1	T	C	2: 160,593,588 (GRCm39)	L251P	probably benign	Het
Plin1	T	A	7: 79,371,320 (GRCm39)	D468V	probably benign	Het
Pmp2	A	G	3: 10,248,845 (GRCm39)	V12A	probably benign	Het
Rnf19a	T	A	15: 36,266,109 (GRCm39)		probably benign	Het
Rnf214	G	A	9: 45,779,344 (GRCm39)	Q469*	probably null	Het
Rrp1b	T	G	17: 32,274,985 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Sema3e	A	T	5: 14,275,567 (GRCm39)	E224V	probably damaging	Het
Sphkap	A	G	1: 83,385,720 (GRCm39)	S5P	probably damaging	Het
Stab1	A	C	14: 30,879,397 (GRCm39)	Y694*	probably null	Het
Stambpl1	T	C	19: 34,211,686 (GRCm39)	L249P	probably benign	Het
Thap4	A	T	1: 93,642,665 (GRCm39)	H515Q	probably damaging	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Uaca	A	G	9: 60,779,380 (GRCm39)	R1256G	probably benign	Het
Usp17lb	T	A	7: 104,489,881 (GRCm39)	N348Y	possibly damaging	Het
Vmn1r42	A	G	6: 89,822,314 (GRCm39)	I85T	probably benign	Het
Vps9d1	A	T	8: 123,975,598 (GRCm39)	L149Q	probably damaging	Het
Zdhhc17	A	T	10: 110,809,694 (GRCm39)	I153N	probably damaging	Het
Zfp207	G	A	11: 80,283,959 (GRCm39)	S293N	possibly damaging	Het
Zfp346	A	G	13: 55,270,170 (GRCm39)	D198G	probably damaging	Het
Zfp953	A	T	13: 67,491,536 (GRCm39)	C139S	possibly damaging	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
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'- GTAAGCTTACCAGATTTGTGCTTCTTG -3'
(R):5'- TTTGGAGAGCCACTCAGTCC -3'

Sequencing Primer
(F):5'- ACCAGATTTGTGCTTCTTGTGTTTTC -3'
(R):5'- GCCACTCAGTCCAGGTGAAATAAG -3'

Posted On

2016-11-08