Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Baz2a'

372920

Institutional Source

Beutler Lab

Gene Symbol

Baz2a

Ensembl Gene

ENSMUSG00000040054

Gene Name

bromodomain adjacent to zinc finger domain, 2A

Synonyms

C030005G16Rik, Walp3, Tip5

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127927453-127965172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127958999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1168 (N1168K)

Ref Sequence

ENSEMBL: ENSMUSP00000151961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045621] [ENSMUST00000170054] [ENSMUST00000217851] [ENSMUST00000219072] [ENSMUST00000220049]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045621
AA Change: N1168K

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: N1168K

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
low complexity region	181	192	N/A	INTRINSIC
low complexity region	342	353	N/A	INTRINSIC
low complexity region	421	475	N/A	INTRINSIC
low complexity region	518	529	N/A	INTRINSIC
MBD	539	614	3.87e-35	SMART
AT_hook	639	651	2.38e0	SMART
AT_hook	660	672	1.65e0	SMART
low complexity region	697	710	N/A	INTRINSIC
coiled coil region	736	776	N/A	INTRINSIC
DDT	837	902	3.75e-18	SMART
Pfam:WHIM1	939	988	4.8e-8	PFAM
low complexity region	1001	1013	N/A	INTRINSIC
AT_hook	1174	1186	6.23e1	SMART
AT_hook	1388	1400	4.21e0	SMART
Pfam:WHIM3	1423	1464	1e-9	PFAM
PHD	1662	1708	1.47e-11	SMART
low complexity region	1741	1753	N/A	INTRINSIC
BROMO	1773	1881	7.71e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170054
AA Change: N1169K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: N1169K

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
low complexity region	181	192	N/A	INTRINSIC
low complexity region	343	354	N/A	INTRINSIC
low complexity region	422	476	N/A	INTRINSIC
low complexity region	519	530	N/A	INTRINSIC
MBD	540	615	3.87e-35	SMART
AT_hook	640	652	2.38e0	SMART
AT_hook	661	673	1.65e0	SMART
low complexity region	698	711	N/A	INTRINSIC
coiled coil region	737	777	N/A	INTRINSIC
DDT	838	903	3.75e-18	SMART
Pfam:WHIM1	940	989	4.8e-8	PFAM
low complexity region	1002	1014	N/A	INTRINSIC
AT_hook	1175	1187	6.23e1	SMART
AT_hook	1389	1401	4.21e0	SMART
Pfam:WHIM3	1424	1462	5.5e-19	PFAM
PHD	1663	1709	1.47e-11	SMART
low complexity region	1742	1754	N/A	INTRINSIC
BROMO	1774	1882	7.71e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217851
AA Change: N1171K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000219072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219980

Predicted Effect

probably benign
Transcript: ENSMUST00000220049
AA Change: N1168K

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,597 (GRCm39)	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,019,409 (GRCm39)	M198K	probably damaging	Het
4933402J07Rik	A	G	8: 88,294,601 (GRCm39)	K84R	probably null	Het
Aamdc	T	C	7: 97,199,773 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,617,282 (GRCm39)	V594A	probably damaging	Het
Adamts13	G	A	2: 26,879,414 (GRCm39)	D656N	probably benign	Het
Adcy10	G	T	1: 165,334,213 (GRCm39)	C122F	probably damaging	Het
Adi1	A	G	12: 28,725,252 (GRCm39)	M1V	probably null	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Akt1	G	T	12: 112,623,521 (GRCm39)	P313Q	probably damaging	Het
Ano3	A	T	2: 110,498,067 (GRCm39)	M758K	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bcap29	A	G	12: 31,674,202 (GRCm39)	I131T	probably benign	Het
Brd10	G	T	19: 29,694,616 (GRCm39)	L1626I	possibly damaging	Het
Btnl6	T	C	17: 34,732,966 (GRCm39)	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,222,524 (GRCm39)	I73T	probably benign	Het
Cdh2	A	G	18: 16,760,754 (GRCm39)	S538P	probably benign	Het
Cfap54	T	A	10: 92,803,390 (GRCm39)	M1551L	probably benign	Het
Chd2	G	A	7: 73,151,873 (GRCm39)	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,073,845 (GRCm39)	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,360,749 (GRCm39)	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,338,098 (GRCm39)	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,534,970 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,366,080 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,917,606 (GRCm39)	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,385,975 (GRCm39)		probably null	Het
Dpp7	A	T	2: 25,242,398 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,780,776 (GRCm39)	I642F	probably damaging	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Fancd2	A	G	6: 113,530,683 (GRCm39)	T439A	probably benign	Het
Fat1	G	A	8: 45,466,102 (GRCm39)	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,223,305 (GRCm39)	A884T	probably benign	Het
Fsip2	A	G	2: 82,820,515 (GRCm39)	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,882,678 (GRCm39)		probably benign	Het
Garre1	T	C	7: 33,938,333 (GRCm39)		probably benign	Het
Gm11544	C	T	11: 94,736,532 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,964 (GRCm39)	K304Q	probably benign	Het
Gpr141b	T	A	13: 19,913,840 (GRCm39)		noncoding transcript	Het
Gramd4	C	T	15: 86,019,057 (GRCm39)	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,589,295 (GRCm39)	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,497,679 (GRCm39)	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,595,219 (GRCm39)	T315I	probably damaging	Het
Haus5	A	T	7: 30,356,452 (GRCm39)	F524I	probably damaging	Het
Herc1	A	G	9: 66,403,253 (GRCm39)	S4391G	probably benign	Het
Herc2	T	A	7: 55,748,165 (GRCm39)	L511*	probably null	Het
Htt	T	A	5: 34,982,184 (GRCm39)	C923S	probably benign	Het
Idua	T	C	5: 108,817,247 (GRCm39)	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,032,466 (GRCm39)	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,248,185 (GRCm39)	K98R	probably benign	Het
Kif15	G	A	9: 122,831,191 (GRCm39)		probably null	Het
Leng9	C	A	7: 4,152,029 (GRCm39)	G216W	probably damaging	Het
Lrpprc	A	G	17: 85,014,584 (GRCm39)	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,544,454 (GRCm39)	E20D	possibly damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Map3k4	C	T	17: 12,490,667 (GRCm39)	E255K	probably damaging	Het
Megf9	G	A	4: 70,452,665 (GRCm39)	T132M	probably damaging	Het
Mob4	T	C	1: 55,184,411 (GRCm39)		probably benign	Het
Mttp	G	A	3: 137,821,811 (GRCm39)	A252V	probably benign	Het
Mxi1	A	G	19: 53,358,745 (GRCm39)	D226G	probably damaging	Het
Myh14	A	G	7: 44,274,566 (GRCm39)	S1249P	probably benign	Het
Mylk	G	A	16: 34,742,737 (GRCm39)	G1083D	probably benign	Het
Mylk4	T	G	13: 32,905,960 (GRCm39)	I408L	probably benign	Het
Nbas	A	G	12: 13,533,740 (GRCm39)	S1792G	probably benign	Het
Nelfb	A	G	2: 25,099,981 (GRCm39)	V212A	probably damaging	Het
Nisch	T	C	14: 30,899,587 (GRCm39)		probably benign	Het
Nqo1	C	G	8: 108,115,477 (GRCm39)	D267H	probably benign	Het
Or8u10	C	A	2: 85,915,190 (GRCm39)	L310F	probably benign	Het
Pcid2	T	A	8: 13,135,425 (GRCm39)	I195F	probably damaging	Het
Pcnx2	A	T	8: 126,478,927 (GRCm39)	M2107K	probably damaging	Het
Pgd	A	T	4: 149,241,048 (GRCm39)		probably benign	Het
Prim2	T	C	1: 33,503,145 (GRCm39)	M430V	probably benign	Het
Prkaa1	A	G	15: 5,190,101 (GRCm39)	T40A	probably damaging	Het
Ptges	T	C	2: 30,793,232 (GRCm39)		probably benign	Het
Ptprn	T	C	1: 75,234,909 (GRCm39)	E226G	probably benign	Het
Rab14	A	G	2: 35,079,978 (GRCm39)	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,684,637 (GRCm39)		probably benign	Het
Rgs11	C	T	17: 26,426,542 (GRCm39)	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,075,774 (GRCm39)		probably null	Het
Rprd2	A	T	3: 95,681,483 (GRCm39)	V452E	probably damaging	Het
Scube3	C	A	17: 28,384,989 (GRCm39)	H646Q	probably damaging	Het
Selp	A	T	1: 163,953,909 (GRCm39)	I70F	probably damaging	Het
Septin2	A	G	1: 93,426,849 (GRCm39)	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,649,905 (GRCm39)	S170N	probably benign	Het
Skint4	A	T	4: 112,000,963 (GRCm39)	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,657,780 (GRCm39)	I41T	possibly damaging	Het
Snai2	T	C	16: 14,524,881 (GRCm39)	F129S	probably damaging	Het
Top3b	C	T	16: 16,708,526 (GRCm39)	R629*	probably null	Het
Trim17	T	A	11: 58,862,270 (GRCm39)	V434E	probably damaging	Het
Ttn	G	A	2: 76,615,327 (GRCm39)	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,239,259 (GRCm39)	I1391N	probably damaging	Het
Usp8	A	T	2: 126,596,958 (GRCm39)	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,534,463 (GRCm39)	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,298,159 (GRCm39)	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,363,976 (GRCm39)	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,332,851 (GRCm39)	I237T	probably damaging	Het
Zan	T	A	5: 137,391,423 (GRCm39)	D4687V	unknown	Het
Zfp273	T	C	13: 67,973,484 (GRCm39)	V204A	probably benign	Het
Zfp956	T	G	6: 47,928,987 (GRCm39)		probably benign	Het

Other mutations in Baz2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Baz2a	APN	10	127,960,804 (GRCm39)	missense	probably benign	0.00
IGL00501:Baz2a	APN	10	127,950,494 (GRCm39)	missense	probably benign	0.14
IGL00743:Baz2a	APN	10	127,950,395 (GRCm39)	missense	probably benign
IGL01362:Baz2a	APN	10	127,957,833 (GRCm39)	missense	probably damaging	0.98
IGL01394:Baz2a	APN	10	127,954,514 (GRCm39)	missense	possibly damaging	0.46
IGL01603:Baz2a	APN	10	127,947,037 (GRCm39)	missense	probably damaging	0.98
IGL02165:Baz2a	APN	10	127,955,218 (GRCm39)	missense	probably benign	0.03
IGL02732:Baz2a	APN	10	127,961,044 (GRCm39)	missense	possibly damaging	0.66
IGL03030:Baz2a	APN	10	127,961,015 (GRCm39)	missense	possibly damaging	0.62
IGL03087:Baz2a	APN	10	127,958,182 (GRCm39)	missense	probably damaging	0.99
R0255:Baz2a	UTSW	10	127,950,508 (GRCm39)	missense	possibly damaging	0.66
R0737:Baz2a	UTSW	10	127,951,949 (GRCm39)	missense	possibly damaging	0.92
R0742:Baz2a	UTSW	10	127,949,535 (GRCm39)	nonsense	probably null
R0755:Baz2a	UTSW	10	127,955,560 (GRCm39)	missense	possibly damaging	0.92
R0798:Baz2a	UTSW	10	127,962,192 (GRCm39)	splice site	probably benign
R0879:Baz2a	UTSW	10	127,957,173 (GRCm39)	missense	probably damaging	0.99
R1023:Baz2a	UTSW	10	127,957,676 (GRCm39)	missense	possibly damaging	0.66
R1482:Baz2a	UTSW	10	127,944,877 (GRCm39)	missense	possibly damaging	0.92
R1512:Baz2a	UTSW	10	127,960,021 (GRCm39)	missense	possibly damaging	0.95
R1658:Baz2a	UTSW	10	127,960,252 (GRCm39)	missense	probably benign	0.04
R1983:Baz2a	UTSW	10	127,959,828 (GRCm39)	missense	probably benign	0.14
R2059:Baz2a	UTSW	10	127,949,447 (GRCm39)	missense	probably damaging	0.98
R2141:Baz2a	UTSW	10	127,959,481 (GRCm39)	missense	probably damaging	1.00
R2921:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R2922:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3104:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3105:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3106:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3621:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3872:Baz2a	UTSW	10	127,959,979 (GRCm39)	missense	probably damaging	1.00
R3873:Baz2a	UTSW	10	127,959,979 (GRCm39)	missense	probably damaging	1.00
R3875:Baz2a	UTSW	10	127,959,979 (GRCm39)	missense	probably damaging	1.00
R4600:Baz2a	UTSW	10	127,957,052 (GRCm39)	missense	probably damaging	0.97
R4692:Baz2a	UTSW	10	127,960,762 (GRCm39)	missense	probably damaging	1.00
R4717:Baz2a	UTSW	10	127,960,811 (GRCm39)	missense	possibly damaging	0.83
R4821:Baz2a	UTSW	10	127,946,978 (GRCm39)	missense	probably damaging	1.00
R4893:Baz2a	UTSW	10	127,959,284 (GRCm39)	missense	possibly damaging	0.66
R4907:Baz2a	UTSW	10	127,946,677 (GRCm39)	missense	probably damaging	0.99
R5133:Baz2a	UTSW	10	127,951,995 (GRCm39)	missense	probably damaging	1.00
R5340:Baz2a	UTSW	10	127,950,911 (GRCm39)	missense	probably damaging	1.00
R5527:Baz2a	UTSW	10	127,960,786 (GRCm39)	missense	probably damaging	1.00
R5761:Baz2a	UTSW	10	127,955,559 (GRCm39)	missense	possibly damaging	0.66
R5891:Baz2a	UTSW	10	127,957,191 (GRCm39)	missense	probably damaging	1.00
R6088:Baz2a	UTSW	10	127,950,511 (GRCm39)	small deletion	probably benign
R6089:Baz2a	UTSW	10	127,950,511 (GRCm39)	small deletion	probably benign
R6323:Baz2a	UTSW	10	127,962,286 (GRCm39)	missense	probably benign	0.21
R6894:Baz2a	UTSW	10	127,959,450 (GRCm39)	missense	possibly damaging	0.81
R7101:Baz2a	UTSW	10	127,957,056 (GRCm39)	missense	possibly damaging	0.66
R7178:Baz2a	UTSW	10	127,960,326 (GRCm39)	missense	probably damaging	0.98
R7179:Baz2a	UTSW	10	127,960,326 (GRCm39)	missense	probably damaging	0.98
R7202:Baz2a	UTSW	10	127,954,428 (GRCm39)	missense	possibly damaging	0.54
R7223:Baz2a	UTSW	10	127,948,475 (GRCm39)	missense	probably damaging	1.00
R7268:Baz2a	UTSW	10	127,960,090 (GRCm39)	missense	possibly damaging	0.66
R7426:Baz2a	UTSW	10	127,951,947 (GRCm39)	missense	probably damaging	1.00
R7464:Baz2a	UTSW	10	127,957,942 (GRCm39)	missense	possibly damaging	0.81
R7568:Baz2a	UTSW	10	127,961,139 (GRCm39)	missense	possibly damaging	0.83
R7672:Baz2a	UTSW	10	127,959,726 (GRCm39)	missense	possibly damaging	0.90
R7948:Baz2a	UTSW	10	127,961,194 (GRCm39)	missense	possibly damaging	0.94
R7993:Baz2a	UTSW	10	127,961,491 (GRCm39)	missense	probably benign	0.27
R8013:Baz2a	UTSW	10	127,961,161 (GRCm39)	missense	possibly damaging	0.92
R8013:Baz2a	UTSW	10	127,961,157 (GRCm39)	missense	probably benign	0.09
R8274:Baz2a	UTSW	10	127,957,716 (GRCm39)	missense	probably benign	0.04
R9034:Baz2a	UTSW	10	127,952,268 (GRCm39)	missense	probably damaging	0.99
R9070:Baz2a	UTSW	10	127,958,931 (GRCm39)	missense	probably benign	0.02
R9245:Baz2a	UTSW	10	127,957,812 (GRCm39)	missense	probably benign
R9329:Baz2a	UTSW	10	127,960,925 (GRCm39)	missense	possibly damaging	0.90
R9472:Baz2a	UTSW	10	127,948,624 (GRCm39)	missense	probably benign	0.00
RF016:Baz2a	UTSW	10	127,961,185 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTTGATCCCAGACACAGAAAAG -3'
(R):5'- TTCTGGCTCTAGGAACCCAC -3'

Sequencing Primer
(F):5'- AGCAAGCATGTTCTGTTTATAGGTC -3'
(R):5'- ACCCACTACTTGGCTGAAGATGG -3'

Posted On

2016-03-01