Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Zbtb21'

23998

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

038449-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

97943357-97962622 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97950513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 171 (D171N)

Ref Sequence

ENSEMBL: ENSMUSP00000156033 (fasta)

Gene Model

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

AlphaFold

E9Q444

Predicted Effect

probably damaging
Transcript: ENSMUST00000052089
AA Change: D685N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: D685N

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: D857N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: D857N

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: D885N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: D885N

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 damaging
Transcript: ENSMUST00000232187
AA Change: D171N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3333

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,419,250 (GRCm38)	V131F	probably damaging	Het
Adam28	T	C	14: 68,637,373 (GRCm38)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,194,056 (GRCm38)	E36G	probably damaging	Het
Antxr2	A	G	5: 97,980,030 (GRCm38)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,617,673 (GRCm38)	D46E	unknown	Het
Armc9	T	C	1: 86,198,370 (GRCm38)	L61P	probably damaging	Het
Bicc1	C	A	10: 71,079,215 (GRCm38)	R73L	probably benign	Het
Calm2	T	C	17: 87,435,841 (GRCm38)	N43S	probably benign	Het
Cct7	A	G	6: 85,461,554 (GRCm38)	D105G	probably null	Het
Cdk18	T	C	1: 132,118,538 (GRCm38)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,395 (GRCm38)	T205A	probably benign	Het
Cfap57	A	T	4: 118,599,012 (GRCm38)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 26,187,007 (GRCm38)	C152*	probably null	Het
Dab2ip	G	A	2: 35,718,791 (GRCm38)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,683,683 (GRCm38)	V905A	probably benign	Het
Eif4h	C	A	5: 134,625,375 (GRCm38)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,299,216 (GRCm38)	S372T	probably benign	Het
Fat2	T	A	11: 55,296,288 (GRCm38)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,008,673 (GRCm38)	N443I	probably benign	Het
Git2	G	A	5: 114,739,037 (GRCm38)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,845,258 (GRCm38)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,967,614 (GRCm38)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,909,969 (GRCm38)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,718,931 (GRCm38)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,953,771 (GRCm38)		probably null	Het
Iars1	T	G	13: 49,722,212 (GRCm38)	S792A	probably benign	Het
Igf1r	A	G	7: 68,226,193 (GRCm38)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,205,606 (GRCm38)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,376,305 (GRCm38)		probably benign	Het
Ints13	A	T	6: 146,555,044 (GRCm38)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm38)	S797A	probably benign	Het
Itgad	T	A	7: 128,189,231 (GRCm38)	D405E	probably benign	Het
Itgam	A	T	7: 128,086,058 (GRCm38)	I448F	probably damaging	Het
Klk1	C	T	7: 44,228,749 (GRCm38)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,544,884 (GRCm38)	M1V	probably null	Het
Mdga1	A	G	17: 29,852,442 (GRCm38)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,464,971 (GRCm38)	R604L	probably benign	Het
Or52p1	T	C	7: 104,618,240 (GRCm38)	V187A	probably damaging	Het
Or5d41	A	T	2: 88,224,780 (GRCm38)	L84*	probably null	Het
Pcdhb7	T	A	18: 37,343,390 (GRCm38)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,889,128 (GRCm38)	D139G	probably damaging	Het
Pkp3	A	C	7: 141,088,367 (GRCm38)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,356,220 (GRCm38)	S524T	probably benign	Het
Pno1	T	C	11: 17,211,127 (GRCm38)	E69G	probably benign	Het
Pold1	C	T	7: 44,541,715 (GRCm38)	V231M	probably benign	Het
Poli	A	G	18: 70,522,731 (GRCm38)	S248P	probably damaging	Het
Ppox	C	T	1: 171,279,552 (GRCm38)	S138N	probably damaging	Het
Psg20	T	C	7: 18,685,976 (GRCm38)	E6G	probably null	Het
Rbmx	C	T	X: 57,391,566 (GRCm38)		probably null	Het
Rln1	T	A	19: 29,331,936 (GRCm38)	K148*	probably null	Het
Rnf213	C	T	11: 119,414,521 (GRCm38)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,799,093 (GRCm38)	V904E	probably null	Het
Sf3b2	T	A	19: 5,283,672 (GRCm38)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,507,189 (GRCm38)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,692,249 (GRCm38)	Y973*	probably null	Het
Spink5	G	A	18: 44,003,198 (GRCm38)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,997,574 (GRCm38)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,675,562 (GRCm38)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,852,300 (GRCm38)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,430,964 (GRCm38)	K45R	probably benign	Het
Tirap	A	G	9: 35,189,194 (GRCm38)	S65P	probably benign	Het
Trim25	C	T	11: 88,999,640 (GRCm38)	P51L	probably damaging	Het
Trim61	T	C	8: 65,014,417 (GRCm38)	N64S	probably benign	Het
Twf1	T	A	15: 94,581,067 (GRCm38)		probably null	Het
Ubr4	A	C	4: 139,445,262 (GRCm38)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,562,581 (GRCm38)	M86T	probably damaging	Het
Utrn	T	C	10: 12,667,618 (GRCm38)	D1762G	probably benign	Het
V1rd19	T	A	7: 24,003,207 (GRCm38)	F33I	probably benign	Het
Vmn2r52	T	C	7: 10,159,338 (GRCm38)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,726,877 (GRCm38)	W472*	probably null	Het
Vrk2	C	A	11: 26,550,046 (GRCm38)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,203,685 (GRCm38)	P620S	possibly damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm38)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm38)	I253T	probably damaging	Het

Other mutations in Zbtb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Zbtb21	APN	16	97,952,320 (GRCm38)	missense	probably benign	0.03
IGL00921:Zbtb21	APN	16	97,952,022 (GRCm38)	missense	probably damaging	1.00
IGL01825:Zbtb21	APN	16	97,952,689 (GRCm38)	missense	possibly damaging	0.63
IGL02310:Zbtb21	APN	16	97,951,790 (GRCm38)	missense	possibly damaging	0.89
IGL03126:Zbtb21	APN	16	97,951,745 (GRCm38)	missense	probably damaging	1.00
IGL03332:Zbtb21	APN	16	97,952,333 (GRCm38)	missense	possibly damaging	0.94
R0165:Zbtb21	UTSW	16	97,951,404 (GRCm38)	missense	probably damaging	1.00
R0267:Zbtb21	UTSW	16	97,952,100 (GRCm38)	missense	probably damaging	1.00
R0734:Zbtb21	UTSW	16	97,952,627 (GRCm38)	missense	probably damaging	1.00
R1546:Zbtb21	UTSW	16	97,952,027 (GRCm38)	missense	probably damaging	0.97
R1565:Zbtb21	UTSW	16	97,952,427 (GRCm38)	missense	probably benign	0.00
R1778:Zbtb21	UTSW	16	97,950,585 (GRCm38)	missense	probably benign	0.02
R2049:Zbtb21	UTSW	16	97,950,155 (GRCm38)	missense	probably damaging	1.00
R4086:Zbtb21	UTSW	16	97,952,763 (GRCm38)	missense	probably damaging	1.00
R4619:Zbtb21	UTSW	16	97,949,892 (GRCm38)	missense	possibly damaging	0.95
R4620:Zbtb21	UTSW	16	97,949,892 (GRCm38)	missense	possibly damaging	0.95
R4754:Zbtb21	UTSW	16	97,951,266 (GRCm38)	missense	probably damaging	1.00
R4785:Zbtb21	UTSW	16	97,950,455 (GRCm38)	missense	possibly damaging	0.60
R5466:Zbtb21	UTSW	16	97,950,498 (GRCm38)	missense	possibly damaging	0.66
R5989:Zbtb21	UTSW	16	97,951,499 (GRCm38)	missense	probably damaging	1.00
R6374:Zbtb21	UTSW	16	97,950,368 (GRCm38)	missense	probably damaging	0.98
R6469:Zbtb21	UTSW	16	97,956,772 (GRCm38)	missense	probably benign	0.01
R6732:Zbtb21	UTSW	16	97,951,082 (GRCm38)	missense	probably damaging	0.97
R6830:Zbtb21	UTSW	16	97,951,961 (GRCm38)	missense	probably damaging	1.00
R7123:Zbtb21	UTSW	16	97,949,912 (GRCm38)	missense	probably damaging	0.96
R7129:Zbtb21	UTSW	16	97,951,687 (GRCm38)	small deletion	probably benign
R7261:Zbtb21	UTSW	16	97,952,979 (GRCm38)	missense	possibly damaging	0.46
R7305:Zbtb21	UTSW	16	97,951,295 (GRCm38)	missense	possibly damaging	0.92
R7372:Zbtb21	UTSW	16	97,950,369 (GRCm38)	missense	possibly damaging	0.55
R7564:Zbtb21	UTSW	16	97,951,540 (GRCm38)	nonsense	probably null
R7670:Zbtb21	UTSW	16	97,951,877 (GRCm38)	missense	probably damaging	0.99
R7788:Zbtb21	UTSW	16	97,951,454 (GRCm38)	missense	possibly damaging	0.62
R8142:Zbtb21	UTSW	16	97,951,475 (GRCm38)	missense	probably damaging	0.98
R8547:Zbtb21	UTSW	16	97,952,115 (GRCm38)	missense	possibly damaging	0.46
R8822:Zbtb21	UTSW	16	97,951,316 (GRCm38)	missense	probably damaging	0.99
R8823:Zbtb21	UTSW	16	97,951,316 (GRCm38)	missense	probably damaging	0.99
R9675:Zbtb21	UTSW	16	97,951,745 (GRCm38)	missense	probably damaging	1.00
X0022:Zbtb21	UTSW	16	97,952,075 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGCTTCACAGAACACAGCAG -3'
(R):5'- GCACCAGGTAGAAGTGCATAACCAG -3'

Sequencing Primer
(F):5'- CTTGTGTGCCGTGAACATC -3'
(R):5'- CAGAACAACATGGCTTTAGCAG -3'

Posted On

2013-04-16