Mutagenetix > Incidental Mutations

Incidental Mutation 'R0267:Zbtb21'

35022

Institutional Source

Beutler Lab

Gene Symbol

Zbtb21

Ensembl Gene

ENSMUSG00000046962

Gene Name

zinc finger and BTB domain containing 21

Synonyms

Zfp295, B430213I24Rik, 5430437K12Rik, Znf295

MMRRC Submission

038493-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97943357-97962622 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97952100 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 356 (S356C)

Ref Sequence

ENSEMBL: ENSMUSP00000052127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052089] [ENSMUST00000063605] [ENSMUST00000113734] [ENSMUST00000231263] [ENSMUST00000231560] [ENSMUST00000232165] [ENSMUST00000232187]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052089
AA Change: S356C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: S356C

Domain	Start	End	E-Value	Type
BTB	58	154	5.14e-18	SMART
low complexity region	461	470	N/A	INTRINSIC
low complexity region	480	493	N/A	INTRINSIC
ZnF_C2H2	578	598	2.14e2	SMART
ZnF_C2H2	605	628	8.67e-1	SMART
low complexity region	708	728	N/A	INTRINSIC
ZnF_C2H2	737	757	2.06e1	SMART
ZnF_C2H2	765	787	4.65e-1	SMART
low complexity region	804	829	N/A	INTRINSIC
ZnF_C2H2	871	893	1.79e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000063605
AA Change: S328C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: S328C

Domain	Start	End	E-Value	Type
BTB	30	126	5.14e-18	SMART
low complexity region	433	442	N/A	INTRINSIC
low complexity region	452	465	N/A	INTRINSIC
ZnF_C2H2	549	572	8.09e-1	SMART
ZnF_C2H2	578	601	2.63e0	SMART
ZnF_C2H2	673	695	3.58e-2	SMART
ZnF_C2H2	750	770	2.14e2	SMART
ZnF_C2H2	777	800	8.67e-1	SMART
low complexity region	880	900	N/A	INTRINSIC
ZnF_C2H2	909	929	2.06e1	SMART
ZnF_C2H2	937	959	4.65e-1	SMART
low complexity region	976	1001	N/A	INTRINSIC
ZnF_C2H2	1043	1065	1.79e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113734
AA Change: S356C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: S356C

Domain	Start	End	E-Value	Type
BTB	58	154	5.14e-18	SMART
low complexity region	461	470	N/A	INTRINSIC
low complexity region	480	493	N/A	INTRINSIC
ZnF_C2H2	577	600	8.09e-1	SMART
ZnF_C2H2	606	629	2.63e0	SMART
ZnF_C2H2	701	723	3.58e-2	SMART
ZnF_C2H2	778	798	2.14e2	SMART
ZnF_C2H2	805	828	8.67e-1	SMART
low complexity region	908	928	N/A	INTRINSIC
ZnF_C2H2	937	957	2.06e1	SMART
ZnF_C2H2	965	987	4.65e-1	SMART
low complexity region	1004	1029	N/A	INTRINSIC
ZnF_C2H2	1071	1093	1.79e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231256

Predicted Effect

probably benign
Transcript: ENSMUST00000231263

Predicted Effect

probably benign
Transcript: ENSMUST00000231560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232010

Predicted Effect

probably benign
Transcript: ENSMUST00000232165

Predicted Effect

probably benign
Transcript: ENSMUST00000232187

Meta Mutation Damage Score

0.0654

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	probably damaging	Het

Other mutations in Zbtb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Zbtb21	APN	16	97952320	missense	probably benign	0.03
IGL00921:Zbtb21	APN	16	97952022	missense	probably damaging	1.00
IGL01825:Zbtb21	APN	16	97952689	missense	possibly damaging	0.63
IGL02310:Zbtb21	APN	16	97951790	missense	possibly damaging	0.89
IGL03126:Zbtb21	APN	16	97951745	missense	probably damaging	1.00
IGL03332:Zbtb21	APN	16	97952333	missense	possibly damaging	0.94
R0165:Zbtb21	UTSW	16	97951404	missense	probably damaging	1.00
R0184:Zbtb21	UTSW	16	97950513	missense	probably damaging	1.00
R0734:Zbtb21	UTSW	16	97952627	missense	probably damaging	1.00
R1546:Zbtb21	UTSW	16	97952027	missense	probably damaging	0.97
R1565:Zbtb21	UTSW	16	97952427	missense	probably benign	0.00
R1778:Zbtb21	UTSW	16	97950585	missense	probably benign	0.02
R2049:Zbtb21	UTSW	16	97950155	missense	probably damaging	1.00
R4086:Zbtb21	UTSW	16	97952763	missense	probably damaging	1.00
R4619:Zbtb21	UTSW	16	97949892	missense	possibly damaging	0.95
R4620:Zbtb21	UTSW	16	97949892	missense	possibly damaging	0.95
R4754:Zbtb21	UTSW	16	97951266	missense	probably damaging	1.00
R4785:Zbtb21	UTSW	16	97950455	missense	possibly damaging	0.60
R5466:Zbtb21	UTSW	16	97950498	missense	possibly damaging	0.66
R5989:Zbtb21	UTSW	16	97951499	missense	probably damaging	1.00
R6374:Zbtb21	UTSW	16	97950368	missense	probably damaging	0.98
R6469:Zbtb21	UTSW	16	97956772	missense	probably benign	0.01
R6732:Zbtb21	UTSW	16	97951082	missense	probably damaging	0.97
R6830:Zbtb21	UTSW	16	97951961	missense	probably damaging	1.00
R7123:Zbtb21	UTSW	16	97949912	missense	probably damaging	0.96
R7129:Zbtb21	UTSW	16	97951687	small deletion	probably benign
R7261:Zbtb21	UTSW	16	97952979	missense	possibly damaging	0.46
R7305:Zbtb21	UTSW	16	97951295	missense	possibly damaging	0.92
R7372:Zbtb21	UTSW	16	97950369	missense	possibly damaging	0.55
R7564:Zbtb21	UTSW	16	97951540	nonsense	probably null
R7670:Zbtb21	UTSW	16	97951877	missense	probably damaging	0.99
R7788:Zbtb21	UTSW	16	97951454	missense	possibly damaging	0.62
R8142:Zbtb21	UTSW	16	97951475	missense	probably damaging	0.98
R8547:Zbtb21	UTSW	16	97952115	missense	possibly damaging	0.46
X0022:Zbtb21	UTSW	16	97952075	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACACTACCCGGTGCCTCATTTG -3'
(R):5'- TGCCCTTAACTGAAAAGAGCTGGAC -3'

Sequencing Primer
(F):5'- GTGCCTCATTTGCCGCTG -3'
(R):5'- CAAAGTCTCTGGAACAGGCTG -3'

Posted On

2013-05-09