Mutagenetix > Incidental Mutation

Incidental Mutation 'R1546:Zbtb21'

172219

Institutional Source

Beutler Lab

Gene Symbol

Zbtb21

Ensembl Gene

ENSMUSG00000046962

Gene Name

zinc finger and BTB domain containing 21

Synonyms

Zfp295, Znf295, B430213I24Rik, 5430437K12Rik

MMRRC Submission

039585-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.649) question?

Stock #

R1546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97746993-97763850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97753227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 380 (V380D)

Ref Sequence

ENSEMBL: ENSMUSP00000052127 (fasta)

Gene Model

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

AlphaFold

E9Q444

Predicted Effect

probably damaging
Transcript: ENSMUST00000052089
AA Change: V380D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: V380D

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

possibly damaging
Transcript: ENSMUST00000063605
AA Change: V352D

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: V352D

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 benign
Transcript: ENSMUST00000113734
AA Change: V380D

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: V380D

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: ENSMUST00000232187

Predicted Effect

probably benign
Transcript: ENSMUST00000232165

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,026,232 (GRCm39)	S251P	probably damaging	Het
Aaas	C	A	15: 102,255,153 (GRCm39)	R79L	probably benign	Het
Acap2	C	A	16: 30,923,754 (GRCm39)	E657*	probably null	Het
Adgrg5	A	T	8: 95,668,258 (GRCm39)	E441V	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
AY358078	C	T	14: 52,057,876 (GRCm39)		probably null	Het
Bco2	A	G	9: 50,461,929 (GRCm39)	V25A	possibly damaging	Het
Bltp1	T	C	3: 36,924,205 (GRCm39)	V10A	possibly damaging	Het
Carf	T	A	1: 60,165,195 (GRCm39)		probably null	Het
Ccdc38	A	T	10: 93,401,741 (GRCm39)	I134L	probably benign	Het
Cgnl1	A	G	9: 71,633,097 (GRCm39)	S85P	probably benign	Het
Ctsl	A	G	13: 64,515,693 (GRCm39)	V126A	probably damaging	Het
Cwc27	A	C	13: 104,938,693 (GRCm39)	S206A	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,590 (GRCm39)	I1004T	probably damaging	Het
Dgki	A	G	6: 37,027,138 (GRCm39)	V401A	probably damaging	Het
Dpp8	C	T	9: 64,970,775 (GRCm39)	H545Y	possibly damaging	Het
Dpy19l1	A	T	9: 24,386,680 (GRCm39)	C205S	probably damaging	Het
Enpp2	C	T	15: 54,709,225 (GRCm39)	E797K	probably benign	Het
Ephb2	C	T	4: 136,498,320 (GRCm39)	R253H	probably damaging	Het
Esrra	T	C	19: 6,897,665 (GRCm39)	T31A	probably benign	Het
Ewsr1	C	A	11: 5,028,574 (GRCm39)		probably benign	Het
Flt4	G	T	11: 49,522,808 (GRCm39)	R475L	probably benign	Het
Gm13547	A	G	2: 29,653,921 (GRCm39)	E138G	possibly damaging	Het
Gm572	A	T	4: 148,751,276 (GRCm39)	R216S	possibly damaging	Het
H2ac8	A	G	13: 23,755,119 (GRCm39)	V55A	probably damaging	Het
Hapln2	T	A	3: 87,931,404 (GRCm39)	Y37F	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,302 (GRCm39)		probably benign	Het
Hhla1	C	T	15: 65,805,176 (GRCm39)	A369T	probably benign	Het
Hmg20a	T	A	9: 56,374,685 (GRCm39)	F14I	possibly damaging	Het
Iqca1l	A	T	5: 24,760,426 (GRCm39)		probably null	Het
Itga2	A	T	13: 114,985,956 (GRCm39)	S940T	possibly damaging	Het
Kcnt2	A	G	1: 140,359,116 (GRCm39)	N377S	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lhx6	A	G	2: 35,981,049 (GRCm39)	S298P	probably benign	Het
Lrp2	C	T	2: 69,332,954 (GRCm39)	G1521D	probably damaging	Het
Mogat2	A	G	7: 98,881,766 (GRCm39)	W57R	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myo1a	A	G	10: 127,548,493 (GRCm39)	D380G	probably damaging	Het
Nufip2	T	A	11: 77,582,432 (GRCm39)	D115E	probably damaging	Het
Ogn	A	T	13: 49,762,809 (GRCm39)	K50N	probably benign	Het
Or5ac20	T	C	16: 59,104,366 (GRCm39)	R165G	probably damaging	Het
Or8c10	A	T	9: 38,278,844 (GRCm39)	M1L	probably benign	Het
Pde8b	G	A	13: 95,182,951 (GRCm39)	T269I	probably damaging	Het
Ppargc1b	A	T	18: 61,443,677 (GRCm39)	D495E	probably damaging	Het
Prdm16	C	A	4: 154,613,117 (GRCm39)	K103N	possibly damaging	Het
Proc	C	T	18: 32,260,463 (GRCm39)	G221S	probably damaging	Het
Pxk	A	G	14: 8,164,091 (GRCm38)	N561S	probably damaging	Het
Rapgef5	A	G	12: 117,610,721 (GRCm39)	N323S	probably benign	Het
Slc6a13	T	G	6: 121,309,333 (GRCm39)	D281E	possibly damaging	Het
Slc8a1	T	C	17: 81,955,676 (GRCm39)	Y454C	probably damaging	Het
Sntg2	C	A	12: 30,338,295 (GRCm39)	L115F	probably damaging	Het
Spata13	A	G	14: 60,993,857 (GRCm39)	D1103G	probably damaging	Het
Supv3l1	G	A	10: 62,268,225 (GRCm39)	A540V	probably benign	Het
Tet1	A	T	10: 62,648,689 (GRCm39)	D1914E	probably damaging	Het
Tmem30a	A	G	9: 79,678,570 (GRCm39)	*329Q	probably null	Het
Tspan5	A	T	3: 138,604,102 (GRCm39)	L162F	probably damaging	Het
Ttn	T	A	2: 76,549,396 (GRCm39)	K31760N	probably damaging	Het
Tyr	A	T	7: 87,087,200 (GRCm39)	D437E	probably benign	Het
Ubr4	T	A	4: 139,144,238 (GRCm39)	L1427*	probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vcan	A	G	13: 89,841,075 (GRCm39)	S1490P	probably damaging	Het
Vcl	T	A	14: 21,059,018 (GRCm39)	C545S	probably damaging	Het
Vmn2r4	C	T	3: 64,314,309 (GRCm39)	G224D	probably damaging	Het
Vmn2r97	T	A	17: 19,168,110 (GRCm39)	V788E	probably damaging	Het
Vrtn	G	A	12: 84,695,282 (GRCm39)	V11M	probably damaging	Het
Zcchc14	G	A	8: 122,331,002 (GRCm39)		probably benign	Het

Other mutations in Zbtb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Zbtb21	APN	16	97,753,520 (GRCm39)	missense	probably benign	0.03
IGL00921:Zbtb21	APN	16	97,753,222 (GRCm39)	missense	probably damaging	1.00
IGL01825:Zbtb21	APN	16	97,753,889 (GRCm39)	missense	possibly damaging	0.63
IGL02310:Zbtb21	APN	16	97,752,990 (GRCm39)	missense	possibly damaging	0.89
IGL03126:Zbtb21	APN	16	97,752,945 (GRCm39)	missense	probably damaging	1.00
IGL03332:Zbtb21	APN	16	97,753,533 (GRCm39)	missense	possibly damaging	0.94
R0165:Zbtb21	UTSW	16	97,752,604 (GRCm39)	missense	probably damaging	1.00
R0184:Zbtb21	UTSW	16	97,751,713 (GRCm39)	missense	probably damaging	1.00
R0267:Zbtb21	UTSW	16	97,753,300 (GRCm39)	missense	probably damaging	1.00
R0734:Zbtb21	UTSW	16	97,753,827 (GRCm39)	missense	probably damaging	1.00
R1565:Zbtb21	UTSW	16	97,753,627 (GRCm39)	missense	probably benign	0.00
R1778:Zbtb21	UTSW	16	97,751,785 (GRCm39)	missense	probably benign	0.02
R2049:Zbtb21	UTSW	16	97,751,355 (GRCm39)	missense	probably damaging	1.00
R4086:Zbtb21	UTSW	16	97,753,963 (GRCm39)	missense	probably damaging	1.00
R4619:Zbtb21	UTSW	16	97,751,092 (GRCm39)	missense	possibly damaging	0.95
R4620:Zbtb21	UTSW	16	97,751,092 (GRCm39)	missense	possibly damaging	0.95
R4754:Zbtb21	UTSW	16	97,752,466 (GRCm39)	missense	probably damaging	1.00
R4785:Zbtb21	UTSW	16	97,751,655 (GRCm39)	missense	possibly damaging	0.60
R5466:Zbtb21	UTSW	16	97,751,698 (GRCm39)	missense	possibly damaging	0.66
R5989:Zbtb21	UTSW	16	97,752,699 (GRCm39)	missense	probably damaging	1.00
R6374:Zbtb21	UTSW	16	97,751,568 (GRCm39)	missense	probably damaging	0.98
R6469:Zbtb21	UTSW	16	97,757,972 (GRCm39)	missense	probably benign	0.01
R6732:Zbtb21	UTSW	16	97,752,282 (GRCm39)	missense	probably damaging	0.97
R6830:Zbtb21	UTSW	16	97,753,161 (GRCm39)	missense	probably damaging	1.00
R7123:Zbtb21	UTSW	16	97,751,112 (GRCm39)	missense	probably damaging	0.96
R7129:Zbtb21	UTSW	16	97,752,887 (GRCm39)	small deletion	probably benign
R7261:Zbtb21	UTSW	16	97,754,179 (GRCm39)	missense	possibly damaging	0.46
R7305:Zbtb21	UTSW	16	97,752,495 (GRCm39)	missense	possibly damaging	0.92
R7372:Zbtb21	UTSW	16	97,751,569 (GRCm39)	missense	possibly damaging	0.55
R7564:Zbtb21	UTSW	16	97,752,740 (GRCm39)	nonsense	probably null
R7670:Zbtb21	UTSW	16	97,753,077 (GRCm39)	missense	probably damaging	0.99
R7788:Zbtb21	UTSW	16	97,752,654 (GRCm39)	missense	possibly damaging	0.62
R8142:Zbtb21	UTSW	16	97,752,675 (GRCm39)	missense	probably damaging	0.98
R8547:Zbtb21	UTSW	16	97,753,315 (GRCm39)	missense	possibly damaging	0.46
R8822:Zbtb21	UTSW	16	97,752,516 (GRCm39)	missense	probably damaging	0.99
R8823:Zbtb21	UTSW	16	97,752,516 (GRCm39)	missense	probably damaging	0.99
R9675:Zbtb21	UTSW	16	97,752,945 (GRCm39)	missense	probably damaging	1.00
X0022:Zbtb21	UTSW	16	97,753,275 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-04-13