Mutagenetix > Incidental Mutation

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, Znf295, B430213I24Rik, 5430437K12Rik

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.649) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97746993-97763850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97753300 bp (GRCm39)

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]

AlphaFold

E9Q444

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 (GRCm39)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,401,238 (GRCm39)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Adrb1	A	T	19: 56,711,923 (GRCm39)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,562,233 (GRCm39)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,358,551 (GRCm39)		probably benign	Het
Alox15	T	A	11: 70,236,979 (GRCm39)	H393L	probably damaging	Het
Aox1	A	G	1: 58,378,605 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,288 (GRCm39)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,092,379 (GRCm39)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,418,540 (GRCm39)	D737V	probably damaging	Het
C9	T	C	15: 6,496,939 (GRCm39)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,255,107 (GRCm39)		probably benign	Het
Chst1	C	A	2: 92,443,951 (GRCm39)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,475 (GRCm39)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,923,454 (GRCm39)	H113Q	probably benign	Het
Dcn	A	T	10: 97,342,345 (GRCm39)		probably benign	Het
Dmbx1	C	T	4: 115,775,309 (GRCm39)	A324T	probably benign	Het
Dock10	G	T	1: 80,490,171 (GRCm39)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,710,921 (GRCm39)	E443G	probably benign	Het
Espl1	T	C	15: 102,221,452 (GRCm39)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,647,213 (GRCm39)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,432,365 (GRCm39)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 30,770,159 (GRCm39)		probably benign	Het
Gbp2	T	C	3: 142,335,867 (GRCm39)	V189A	probably benign	Het
Gins4	T	C	8: 23,719,426 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,845,319 (GRCm39)	T3A	probably benign	Het
Gnb1l	T	C	16: 18,366,839 (GRCm39)		probably benign	Het
Gtpbp3	T	C	8: 71,944,141 (GRCm39)	L295S	probably damaging	Het
Hrh4	C	A	18: 13,155,455 (GRCm39)	Y331*	probably null	Het
Hsd11b1	A	T	1: 192,923,705 (GRCm39)	Y52N	probably damaging	Het
Jam3	A	G	9: 27,017,701 (GRCm39)	I29T	probably benign	Het
Kctd16	T	A	18: 40,663,930 (GRCm39)	I353N	probably benign	Het
Lama4	G	T	10: 38,904,635 (GRCm39)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,093,040 (GRCm39)	M137L	probably benign	Het
Morc2a	T	C	11: 3,628,567 (GRCm39)	I340T	probably benign	Het
Myo7a	A	C	7: 97,703,831 (GRCm39)	I1969S	probably benign	Het
Or14a258	T	C	7: 86,035,475 (GRCm39)	E131G	possibly damaging	Het
Or5b116	T	A	19: 13,422,792 (GRCm39)	C139S	probably damaging	Het
Or6n1	A	G	1: 173,916,732 (GRCm39)	N42S	probably damaging	Het
Pclo	T	C	5: 14,731,194 (GRCm39)	L3232P	unknown	Het
Polr1a	T	G	6: 71,951,123 (GRCm39)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,656,722 (GRCm39)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,386,066 (GRCm39)	T280A	probably benign	Het
Rfx3	T	C	19: 27,771,188 (GRCm39)	D521G	probably benign	Het
Scn5a	C	T	9: 119,372,201 (GRCm39)	V223I	probably damaging	Het
Sgsm3	T	G	15: 80,890,803 (GRCm39)	M119R	probably damaging	Het
Slc6a7	T	A	18: 61,129,783 (GRCm39)	M608L	probably benign	Het
Slit2	A	G	5: 48,339,673 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,723,561 (GRCm39)	I440F	probably benign	Het
Syn2	T	G	6: 115,231,111 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,361,203 (GRCm39)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,333,426 (GRCm39)		probably benign	Het
Trpm6	C	A	19: 18,800,742 (GRCm39)	P819T	probably benign	Het
Ttn	G	A	2: 76,574,033 (GRCm39)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,459,553 (GRCm39)		probably null	Het
Vars1	T	C	17: 35,230,572 (GRCm39)		probably benign	Het
Vip	A	T	10: 5,594,004 (GRCm39)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps33b	T	C	7: 79,935,802 (GRCm39)	I405T	possibly damaging	Het
Zdhhc6	A	T	19: 55,297,362 (GRCm39)	S237T	probably benign	Het
Zfp142	G	A	1: 74,615,223 (GRCm39)	A427V	probably benign	Het
Zfp692	T	A	11: 58,205,140 (GRCm39)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,670,322 (GRCm39)	I384N	probably damaging	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
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'- ACACACTACCCGGTGCCTCATTTG -3'
(R):5'- TGCCCTTAACTGAAAAGAGCTGGAC -3'

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

Posted On

2013-05-09