Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Zbtb21'

24132

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

038441-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.649) question?

Stock #

R0165 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

97746993-97763850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97752604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 560 (S560P)

Ref Sequence

ENSEMBL: ENSMUSP00000068283 (fasta)

Gene Model

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

AlphaFold

E9Q444

Predicted Effect

probably benign
Transcript: ENSMUST00000052089

SMART Domains

Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962

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: S560P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: S560P

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

possibly damaging
Transcript: ENSMUST00000113734
AA Change: S588P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: S588P

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

Meta Mutation Damage Score

0.4012

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,924 (GRCm39)	I717T	possibly damaging	Het
6430571L13Rik	A	G	9: 107,223,383 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,950,126 (GRCm39)		probably benign	Het
Abca6	A	G	11: 110,110,430 (GRCm39)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,558,499 (GRCm39)		probably benign	Het
Agap3	A	G	5: 24,684,743 (GRCm39)	T544A	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Akr1c20	T	C	13: 4,573,295 (GRCm39)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,517,445 (GRCm39)	S459P	probably benign	Het
Armh4	A	G	14: 50,011,243 (GRCm39)	S155P	probably benign	Het
Ascc3	T	A	10: 50,718,223 (GRCm39)		probably null	Het
Brd1	T	C	15: 88,613,980 (GRCm39)	N305S	probably damaging	Het
Catip	T	A	1: 74,407,628 (GRCm39)	L320Q	possibly damaging	Het
Cplane1	G	A	15: 8,245,866 (GRCm39)	V1413M	probably damaging	Het
Cttnbp2	G	A	6: 18,435,409 (GRCm39)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,257,481 (GRCm39)	N228T	probably benign	Het
Dapk1	T	C	13: 60,909,407 (GRCm39)	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Ddhd1	G	A	14: 45,833,049 (GRCm39)	T849M	probably damaging	Het
Dnah6	A	G	6: 72,998,306 (GRCm39)	S3987P	probably benign	Het
Dst	C	A	1: 34,193,727 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,049,203 (GRCm39)		probably null	Het
Ern2	T	C	7: 121,779,002 (GRCm39)	T281A	probably benign	Het
Extl1	A	G	4: 134,085,014 (GRCm39)	F652S	probably damaging	Het
Gckr	A	G	5: 31,484,292 (GRCm39)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,293,419 (GRCm39)		probably null	Het
Gm7535	T	C	17: 18,131,437 (GRCm39)		probably benign	Het
Gmps	T	A	3: 63,901,375 (GRCm39)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,917,414 (GRCm39)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 110,401,998 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,657,867 (GRCm39)	I1934F	probably damaging	Het
Lars1	A	T	18: 42,335,762 (GRCm39)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,553,514 (GRCm39)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,111,739 (GRCm39)	T537K	probably damaging	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Meiob	A	G	17: 25,054,135 (GRCm39)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,250,283 (GRCm39)	T41M	probably damaging	Het
Miga1	C	T	3: 151,996,480 (GRCm39)	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,198,907 (GRCm39)		probably null	Het
Or5p62	T	C	7: 107,771,882 (GRCm39)	D23G	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,540,208 (GRCm39)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,381,434 (GRCm39)		probably benign	Het
Prune2	T	A	19: 17,099,974 (GRCm39)	M1826K	probably benign	Het
Qki	T	A	17: 10,457,892 (GRCm39)	D159V	probably damaging	Het
Rab12	A	T	17: 66,807,312 (GRCm39)	I139N	probably damaging	Het
Rab25	T	A	3: 88,455,362 (GRCm39)	E7D	probably benign	Het
Rala	A	T	13: 18,063,174 (GRCm39)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,230,407 (GRCm39)		probably benign	Het
Rbl2	T	A	8: 91,800,804 (GRCm39)	Y89N	probably damaging	Het
Rho	A	T	6: 115,909,188 (GRCm39)	I75F	probably damaging	Het
Slc38a4	C	A	15: 96,906,830 (GRCm39)	A303S	probably benign	Het
Slc6a15	A	G	10: 103,245,670 (GRCm39)	D551G	probably null	Het
Smyd3	T	C	1: 178,871,437 (GRCm39)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,684,512 (GRCm39)	L180*	probably null	Het
Stat6	T	C	10: 127,493,096 (GRCm39)	V576A	probably damaging	Het
Strn	T	C	17: 78,984,803 (GRCm39)	D127G	possibly damaging	Het
Syne1	T	C	10: 4,983,096 (GRCm39)	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,306,678 (GRCm39)		probably null	Het
Tcf3	C	T	10: 80,248,831 (GRCm39)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,103,286 (GRCm39)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,866,020 (GRCm39)		probably benign	Het
Tmprss11c	A	T	5: 86,379,786 (GRCm39)		probably benign	Het
Tnfsf18	A	G	1: 161,322,300 (GRCm39)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,742,871 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,639,433 (GRCm39)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,789,864 (GRCm39)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,551,686 (GRCm39)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,683,460 (GRCm39)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vwce	T	C	19: 10,637,337 (GRCm39)		probably benign	Het
Wdhd1	A	G	14: 47,504,525 (GRCm39)	S350P	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
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
R1546:Zbtb21	UTSW	16	97,753,227 (GRCm39)	missense	probably damaging	0.97
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'- ACAAATGTAGGCCCCTTTGGCTC -3'
(R):5'- AGGTTCCAGACAGACAGAAGGTCAC -3'

Sequencing Primer
(F):5'- GCGCCTCAGCTTAATGATCAG -3'
(R):5'- GGTCACCCTTGAAGAAGGC -3'

Posted On

2013-04-16