Mutagenetix > Incidental Mutation

Incidental Mutation 'R1822:Brd10'

206530

Institutional Source

Beutler Lab

Gene Symbol

Brd10

Ensembl Gene

ENSMUSG00000046138

Gene Name

bromodomain containing 10

Synonyms

9930021J03Rik, Gm9832

MMRRC Submission

039850-MU

Accession Numbers

Essential gene?

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

Stock #

R1822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29691802-29783389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29693814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1960 (N1960S)

Gene Model

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

AlphaFold

H3BKP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059484
AA Change: N1960S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054060
Gene: ENSMUSG00000046138
AA Change: N1960S

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: N1837S

Predicted Effect

unknown
Transcript: ENSMUST00000175764
AA Change: N1192S

SMART Domains

Protein: ENSMUSP00000135031
Gene: ENSMUSG00000046138
AA Change: N1192S

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: N1893S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135473
Gene: ENSMUSG00000046138
AA Change: N1893S

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

0.0971

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (105/108)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,847,901 (GRCm39)	T798K	possibly damaging	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Adsl	G	T	15: 80,846,943 (GRCm39)	E70*	probably null	Het
Ahcyl2	A	G	6: 29,768,583 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,493,850 (GRCm39)	V310A	probably benign	Het
Alpk3	T	A	7: 80,726,679 (GRCm39)	C121*	probably null	Het
Amph	T	A	13: 19,132,625 (GRCm39)	I8N	probably damaging	Het
Ano2	G	A	6: 125,840,420 (GRCm39)	A364T	probably damaging	Het
Apbb2	T	C	5: 66,557,520 (GRCm39)	T314A	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip	A	G	6: 136,564,258 (GRCm39)	T834A	probably benign	Het
Brca2	T	G	5: 150,463,663 (GRCm39)	D1142E	probably benign	Het
Cap2	A	G	13: 46,768,823 (GRCm39)	S210G	probably benign	Het
Capn2	C	A	1: 182,300,525 (GRCm39)	E596D	possibly damaging	Het
Cdc27	A	T	11: 104,413,648 (GRCm39)	S358R	probably benign	Het
Cdhr3	C	T	12: 33,095,204 (GRCm39)	G622S	probably null	Het
Clip2	A	G	5: 134,532,081 (GRCm39)	Y540H	probably benign	Het
Crhr1	A	T	11: 104,023,898 (GRCm39)	M1L	probably benign	Het
Csmd1	T	C	8: 16,273,340 (GRCm39)	T831A	probably damaging	Het
Cwc22	T	C	2: 77,755,003 (GRCm39)		probably benign	Het
Cyp3a25	T	A	5: 145,921,763 (GRCm39)	K390N	probably damaging	Het
Cyp4a31	T	C	4: 115,423,810 (GRCm39)		probably null	Het
Cytip	A	C	2: 58,024,158 (GRCm39)	S221A	probably benign	Het
Dagla	G	A	19: 10,240,550 (GRCm39)	R227C	possibly damaging	Het
Dhx57	A	G	17: 80,560,514 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,405,630 (GRCm39)	D627E	probably damaging	Het
Dock8	A	G	19: 25,138,422 (GRCm39)	E1249G	probably benign	Het
Dpysl3	A	G	18: 43,475,393 (GRCm39)	V31A	probably benign	Het
Ecpas	A	G	4: 58,805,539 (GRCm39)		probably null	Het
Fan1	T	C	7: 64,022,554 (GRCm39)	N233S	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Glipr1	T	A	10: 111,832,765 (GRCm39)	M58L	possibly damaging	Het
Gm10509	C	T	17: 21,909,765 (GRCm39)	P31S	possibly damaging	Het
Gm5070	T	C	3: 95,318,355 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,841,998 (GRCm39)	N138S	probably damaging	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
Hmcn2	C	T	2: 31,273,704 (GRCm39)	S1352L	probably damaging	Het
Hoxa5	G	A	6: 52,179,712 (GRCm39)	T221I	probably damaging	Het
Hsd17b2	C	A	8: 118,485,488 (GRCm39)	P317Q	possibly damaging	Het
Ifi213	T	A	1: 173,417,408 (GRCm39)	S335C	probably damaging	Het
Izumo4	A	T	10: 80,539,729 (GRCm39)	D156V	probably damaging	Het
Khnyn	A	T	14: 56,123,309 (GRCm39)	E21V	probably damaging	Het
Kmt2d	C	T	15: 98,759,661 (GRCm39)	G1199E	unknown	Het
Lipk	T	C	19: 34,016,491 (GRCm39)	W240R	probably benign	Het
Lpar5	A	G	6: 125,058,378 (GRCm39)	D33G	possibly damaging	Het
Lrp11	A	G	10: 7,471,961 (GRCm39)	D219G	probably damaging	Het
Lrrcc1	T	C	3: 14,624,285 (GRCm39)		probably benign	Het
Man2a1	T	C	17: 65,047,837 (GRCm39)	C252R	probably damaging	Het
Map2k5	A	G	9: 63,142,585 (GRCm39)	F354L	possibly damaging	Het
Mlh3	T	C	12: 85,312,919 (GRCm39)		probably benign	Het
Mmp28	A	G	11: 83,335,045 (GRCm39)	I331T	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Nckap1	A	G	2: 80,348,242 (GRCm39)	S898P	possibly damaging	Het
Nectin1	T	A	9: 43,702,374 (GRCm39)	Y40*	probably null	Het
Neurl1a	T	A	19: 47,245,898 (GRCm39)	V493E	probably benign	Het
Ntf3	A	C	6: 126,079,209 (GRCm39)	I99S	probably benign	Het
Or10ag53	T	C	2: 87,083,054 (GRCm39)	S258P	possibly damaging	Het
Or1l4	C	G	2: 37,091,992 (GRCm39)	H246Q	probably damaging	Het
Or1p1c	A	G	11: 74,161,066 (GRCm39)	T284A	probably benign	Het
Or2ak5	A	T	11: 58,611,133 (GRCm39)	V247E	probably damaging	Het
Or2i1	A	G	17: 37,507,722 (GRCm39)		probably benign	Het
Or2y1c	T	A	11: 49,361,795 (GRCm39)	F272L	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,780 (GRCm39)	R233C	probably benign	Het
Otof	G	A	5: 30,536,054 (GRCm39)	T1343I	probably benign	Het
Otop2	A	T	11: 115,215,454 (GRCm39)	Y125F	probably benign	Het
Pate3	G	A	9: 35,557,401 (GRCm39)	T85I	probably benign	Het
Pdpk1	A	T	17: 24,317,150 (GRCm39)		probably benign	Het
Phf11d	T	C	14: 59,593,778 (GRCm39)	H132R	probably benign	Het
Pik3c3	G	A	18: 30,477,130 (GRCm39)		probably null	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Prkdc	G	A	16: 15,577,469 (GRCm39)	D2372N	probably damaging	Het
Ptprq	C	T	10: 107,554,339 (GRCm39)	E129K	probably damaging	Het
Pym1	G	A	10: 128,601,913 (GRCm39)		probably benign	Het
Ralgapb	T	A	2: 158,334,372 (GRCm39)	V1027E	probably damaging	Het
Rita1	T	C	5: 120,747,645 (GRCm39)	T218A	possibly damaging	Het
Rrh	T	A	3: 129,606,282 (GRCm39)	T218S	probably damaging	Het
Scaper	C	T	9: 55,767,184 (GRCm39)	A416T	probably damaging	Het
Scn3a	A	G	2: 65,314,716 (GRCm39)	L1115P	probably damaging	Het
Serpinb6e	A	T	13: 34,017,217 (GRCm39)	S268T	probably damaging	Het
Skic3	C	A	13: 76,278,407 (GRCm39)	H574N	probably benign	Het
Slc1a6	G	A	10: 78,648,765 (GRCm39)	W495*	probably null	Het
Slc32a1	A	G	2: 158,453,298 (GRCm39)	H46R	probably benign	Het
Slc37a1	C	T	17: 31,519,405 (GRCm39)		probably benign	Het
Slc6a5	T	A	7: 49,606,173 (GRCm39)	W694R	probably benign	Het
Smarcd2	A	T	11: 106,158,222 (GRCm39)	D113E	probably benign	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Srpk3	G	A	X: 72,821,561 (GRCm39)	R425Q	possibly damaging	Het
Sspo	A	T	6: 48,469,820 (GRCm39)	Q4506L	possibly damaging	Het
Stam2	T	A	2: 52,606,539 (GRCm39)	E115D	probably damaging	Het
Sult1c2	A	T	17: 54,280,953 (GRCm39)	L50H	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Togaram1	T	G	12: 65,042,409 (GRCm39)	V1156G	probably damaging	Het
Tpp1	T	C	7: 105,398,854 (GRCm39)	T192A	probably benign	Het
Ush1c	A	G	7: 45,859,325 (GRCm39)	L498P	probably damaging	Het
Vit	A	C	17: 78,930,265 (GRCm39)	Q410P	probably benign	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Zfp341	A	G	2: 154,488,054 (GRCm39)	E839G	possibly damaging	Het
Zhx3	G	A	2: 160,622,275 (GRCm39)	L631F	probably benign	Het
Zmpste24	T	C	4: 120,944,513 (GRCm39)	E95G	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
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'- ACCGATGTGCTACTTGGCAG -3'
(R):5'- AAGGTCTTGGAGCTGGTAGC -3'

Sequencing Primer
(F):5'- CTACTTGGCAGTGGAGGGTTAC -3'
(R):5'- TTGGAGCTGGTAGCCACGTC -3'

Posted On

2014-06-23