Mutagenetix > Incidental Mutation

Incidental Mutation 'R6323:Baz2a'

510211

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

044477-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6323 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127927453-127965172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127962286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1816 (I1816V)

Ref Sequence

ENSEMBL: ENSMUSP00000151961 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045621
AA Change: I1816V

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: I1816V

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: I1817V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: I1817V

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: I1819V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000220049
AA Change: I1816V

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.1664

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,436,568 (GRCm39)	T171A	unknown	Het
Akr1c6	A	G	13: 4,497,017 (GRCm39)	K153R	possibly damaging	Het
Ano1	T	A	7: 144,165,423 (GRCm39)	I601F	possibly damaging	Het
Arfgef2	A	G	2: 166,676,404 (GRCm39)	Y8C	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Cadps2	T	A	6: 23,263,577 (GRCm39)	T1294S	probably benign	Het
Casz1	T	C	4: 149,026,161 (GRCm39)	S952P	possibly damaging	Het
Cdc20	T	C	4: 118,292,761 (GRCm39)	N329S	probably damaging	Het
Ceacam1	A	C	7: 25,174,076 (GRCm39)	L193R	probably damaging	Het
Celf5	A	G	10: 81,305,337 (GRCm39)	S143P	probably damaging	Het
Cfap74	A	G	4: 155,548,395 (GRCm39)	D1342G	possibly damaging	Het
Chd5	C	A	4: 152,451,791 (GRCm39)	T701K	probably damaging	Het
Cpt1b	C	A	15: 89,303,266 (GRCm39)	M596I	probably benign	Het
Ctrb1	A	G	8: 112,416,223 (GRCm39)	V21A	probably benign	Het
Diaph3	C	T	14: 87,203,889 (GRCm39)	V579I	probably benign	Het
Dlc1	T	C	8: 37,405,537 (GRCm39)	E84G	possibly damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Galns	T	C	8: 123,325,390 (GRCm39)	D254G	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Gstm1	A	G	3: 107,925,063 (GRCm39)	V10A	probably benign	Het
Krt13	C	A	11: 100,011,976 (GRCm39)	A116S	probably damaging	Het
Lars2	A	T	9: 123,270,659 (GRCm39)	K584*	probably null	Het
Lrrc43	G	T	5: 123,641,949 (GRCm39)	G600W	probably damaging	Het
Madd	G	T	2: 90,991,783 (GRCm39)		probably null	Het
Mnat1	A	G	12: 73,214,878 (GRCm39)	D65G	probably damaging	Het
Nsmf	A	G	2: 24,945,063 (GRCm39)	N42S	possibly damaging	Het
Or4k77	T	C	2: 111,199,046 (GRCm39)	L23P	possibly damaging	Het
Or5ac16	A	G	16: 59,022,645 (GRCm39)	L48P	probably damaging	Het
Palld	A	T	8: 62,173,727 (GRCm39)	W311R	probably damaging	Het
Pax1	T	A	2: 147,210,321 (GRCm39)	V352E	probably damaging	Het
Rnf2	T	C	1: 151,348,967 (GRCm39)	K51R	probably damaging	Het
Rpl7l1	C	A	17: 47,093,564 (GRCm39)		probably benign	Het
Slc1a6	G	A	10: 78,648,721 (GRCm39)	G481S	probably damaging	Het
Slc34a1	A	G	13: 23,998,969 (GRCm39)	I121V	probably benign	Het
Spata31h1	G	A	10: 82,118,916 (GRCm39)	T4698I	probably benign	Het
Trav6-1	T	C	14: 52,876,248 (GRCm39)	V56A	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r79	T	A	7: 86,650,522 (GRCm39)	C103S	probably benign	Het
Wwp2	A	T	8: 108,267,303 (GRCm39)	H305L	probably damaging	Het
Zfp593	A	G	4: 133,972,224 (GRCm39)	V94A	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
R4832:Baz2a	UTSW	10	127,958,999 (GRCm39)	missense	probably benign	0.08
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
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'- TTCGATGAGAAGTCACCACAG -3'
(R):5'- CTTCTGAGCTAGTGTACCTGGG -3'

Sequencing Primer
(F):5'- TTCGATGAGAAGTCACCACAGTGATC -3'
(R):5'- CCTGGGCAGGGGAAGAC -3'

Posted On

2018-04-02