Mutagenetix > Incidental Mutation

Incidental Mutation 'R5224:Brd10'

402529

Institutional Source

Beutler Lab

Gene Symbol

Brd10

Ensembl Gene

ENSMUSG00000046138

Gene Name

bromodomain containing 10

Synonyms

9930021J03Rik, Gm9832

MMRRC Submission

042797-MU

Accession Numbers

Essential gene?

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

Stock #

R5224 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29691802-29783389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29696450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1014 (S1014R)

Ref Sequence

ENSEMBL: ENSMUSP00000135473 (fasta)

Gene Model

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

AlphaFold

H3BKP8

Predicted Effect

probably benign
Transcript: ENSMUST00000175726
AA Change: S958R

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000175764
AA Change: S313R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000135031
Gene: ENSMUSG00000046138
AA Change: S313R

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: S1014R

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

SMART Domains

Protein: ENSMUSP00000135473
Gene: ENSMUSG00000046138
AA Change: S1014R

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	CGTGACCTTTCTGGT	CGT	10: 85,481,386 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,862,921 (GRCm39)	S699G	probably damaging	Het
Atp10d	C	T	5: 72,426,669 (GRCm39)	A959V	probably benign	Het
Axl	T	C	7: 25,486,369 (GRCm39)	M112V	probably benign	Het
Camk1g	A	T	1: 193,037,342 (GRCm39)	D119E	probably damaging	Het
Capn8	A	C	1: 182,424,554 (GRCm39)	N117T	probably damaging	Het
Cct3	G	A	3: 88,204,532 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,752,080 (GRCm39)	T1293A	possibly damaging	Het
Depdc1b	A	G	13: 108,521,354 (GRCm39)	D387G	probably damaging	Het
Dtx3l	A	G	16: 35,759,163 (GRCm39)	Y29H	possibly damaging	Het
Erp44	A	T	4: 48,279,435 (GRCm39)	N2K	probably benign	Het
Fmn1	A	G	2: 113,195,470 (GRCm39)	E390G	unknown	Het
Ganab	T	A	19: 8,887,955 (GRCm39)	D396E	probably benign	Het
Gatd3a	A	G	10: 77,999,367 (GRCm39)	V148A	probably damaging	Het
Gcc2	T	A	10: 58,121,982 (GRCm39)	S1140T	probably damaging	Het
Gm7008	T	C	12: 40,273,342 (GRCm39)		probably benign	Het
Gphn	T	A	12: 78,637,361 (GRCm39)	F354I	probably damaging	Het
H2-T7	G	A	17: 36,454,231 (GRCm39)		noncoding transcript	Het
Hnrnpul1	G	A	7: 25,444,600 (GRCm39)	T236M	probably damaging	Het
Itpr2	T	A	6: 146,068,149 (GRCm39)	M2410L	probably benign	Het
Jaml	T	A	9: 45,015,564 (GRCm39)	M356K	probably damaging	Het
Kbtbd12	T	A	6: 88,594,681 (GRCm39)		probably benign	Het
Ldlrad3	G	T	2: 101,943,954 (GRCm39)	N39K	probably damaging	Het
Lrp1b	G	A	2: 41,000,852 (GRCm39)	T2238I	possibly damaging	Het
Lypd8	T	A	11: 58,277,634 (GRCm39)	C139S	possibly damaging	Het
Masp1	G	T	16: 23,313,445 (GRCm39)	H163Q	probably damaging	Het
Mpo	T	C	11: 87,687,283 (GRCm39)		probably benign	Het
Muc19	A	T	15: 91,825,910 (GRCm39)		noncoding transcript	Het
Muc5ac	T	A	7: 141,347,708 (GRCm39)	S438T	probably benign	Het
Nav2	T	C	7: 49,201,473 (GRCm39)	V160A	probably benign	Het
Nlrc5	G	T	8: 95,220,944 (GRCm39)	A1128S	probably benign	Het
Nlrp5	T	A	7: 23,117,401 (GRCm39)	L375Q	probably damaging	Het
Nlrp9a	A	G	7: 26,256,717 (GRCm39)	T112A	probably benign	Het
Nppa	T	C	4: 148,085,773 (GRCm39)	S127P	probably damaging	Het
Or8k24	A	G	2: 86,216,193 (GRCm39)	S190P	possibly damaging	Het
Osbpl1a	T	C	18: 13,066,753 (GRCm39)	N2S	probably benign	Het
Otoa	A	G	7: 120,739,016 (GRCm39)	T742A	probably damaging	Het
Pcdh10	A	G	3: 45,347,249 (GRCm39)	R1015G	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plpp1	T	A	13: 112,988,046 (GRCm39)	Y56*	probably null	Het
Ppp1r12a	A	G	10: 108,096,886 (GRCm39)	T236A	probably benign	Het
Rhag	T	C	17: 41,139,395 (GRCm39)	L110P	probably damaging	Het
Scn11a	T	A	9: 119,583,858 (GRCm39)	N1586Y	probably damaging	Het
Sgms2	T	A	3: 131,135,766 (GRCm39)	K36I	probably damaging	Het
Slc22a2	A	G	17: 12,805,719 (GRCm39)	N157D	probably damaging	Het
Stx19	T	G	16: 62,642,937 (GRCm39)	M251R	probably benign	Het
Suco	A	G	1: 161,662,274 (GRCm39)	I719T	probably benign	Het
Tnr	A	G	1: 159,750,885 (GRCm39)	D1282G	probably damaging	Het
Tram1	T	C	1: 13,648,349 (GRCm39)	R154G	probably benign	Het
Ubtfl1	G	T	9: 18,321,326 (GRCm39)	V285L	probably benign	Het
Ugt2b38	A	G	5: 87,571,601 (GRCm39)	S144P	probably benign	Het
Washc2	T	G	6: 116,185,965 (GRCm39)	*58G	probably null	Het
Zfp354a	T	A	11: 50,960,876 (GRCm39)	S362R	probably 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
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'- GAACAGCTAGCGCTTGTCTG -3'
(R):5'- GGCTTTGCTTGCAAAGAATATTGG -3'

Sequencing Primer
(F):5'- TCTGTGGGCCAGGTGAGC -3'
(R):5'- TGGGAACAAAGTGACCTTAACAAATC -3'

Posted On

2016-07-22