Mutagenetix > Incidental Mutation

Incidental Mutation 'R4619:Zbtb21'

345205

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

041885-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R4619 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

97746993-97763850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97751092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1092 (T1092A)

Ref Sequence

ENSEMBL: ENSMUSP00000109363 (fasta)

Gene Model

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

AlphaFold

E9Q444

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052089
AA Change: T892A

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: T892A

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 benign
Transcript: ENSMUST00000063605
AA Change: T1064A

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: T1064A

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: T1092A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: T1092A

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
AA Change: T378A

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000232165

Meta Mutation Damage Score

0.2415

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,775,520 (GRCm39)	V1570I	probably damaging	Het
Alx4	A	G	2: 93,473,106 (GRCm39)	R35G	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
Atp8b3	G	A	10: 80,361,858 (GRCm39)	T731I	possibly damaging	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Cdh15	G	A	8: 123,587,612 (GRCm39)	D179N	probably damaging	Het
Cntnap5c	G	T	17: 58,717,263 (GRCm39)	V1282L	probably benign	Het
Crocc2	G	A	1: 93,141,372 (GRCm39)	R1175H	probably benign	Het
Dbh	A	G	2: 27,064,836 (GRCm39)	D349G	probably damaging	Het
Dync1h1	A	G	12: 110,605,278 (GRCm39)	I2372V	probably benign	Het
Fer1l4	A	T	2: 155,889,007 (GRCm39)	W389R	probably damaging	Het
Fndc1	T	C	17: 7,984,036 (GRCm39)	T1297A	unknown	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
Gm5591	G	A	7: 38,220,072 (GRCm39)	S267L	probably benign	Het
Gzmk	A	G	13: 113,309,657 (GRCm39)	V92A	probably damaging	Het
Hspg2	C	T	4: 137,273,884 (GRCm39)	R2680W	probably damaging	Het
Insyn2a	A	G	7: 134,520,270 (GRCm39)	Y87H	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kcnk7	A	C	19: 5,756,463 (GRCm39)	I230L	probably benign	Het
Kif3b	C	T	2: 153,158,594 (GRCm39)	R132*	probably null	Het
Klra5	T	C	6: 129,885,776 (GRCm39)	S128G	probably benign	Het
Krba1	C	T	6: 48,383,282 (GRCm39)	R4*	probably null	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Lss	A	G	10: 76,372,089 (GRCm39)	D148G	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mipep	T	C	14: 61,140,865 (GRCm39)	C566R	probably damaging	Het
Myocd	T	A	11: 65,069,254 (GRCm39)		probably benign	Het
Ndufa9	C	T	6: 126,804,498 (GRCm39)		probably null	Het
Nolc1	G	A	19: 46,071,959 (GRCm39)	G583D	probably damaging	Het
Nucb2	T	C	7: 116,127,059 (GRCm39)		probably null	Het
Or1i2	T	C	10: 78,448,409 (GRCm39)	D22G	probably benign	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or5p63	A	T	7: 107,811,301 (GRCm39)	I145N	possibly damaging	Het
Pank4	C	A	4: 155,061,076 (GRCm39)	D508E	probably benign	Het
Phb1	T	A	11: 95,562,416 (GRCm39)		probably benign	Het
Pign	T	A	1: 105,449,715 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,076,382 (GRCm39)	K349E	probably benign	Het
Ppp1r3c	A	T	19: 36,711,743 (GRCm39)	V9E	possibly damaging	Het
Rap1gap	T	A	4: 137,443,422 (GRCm39)	V130D	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Serpina3f	T	C	12: 104,183,549 (GRCm39)	I137T	possibly damaging	Het
Slc46a3	T	A	5: 147,823,540 (GRCm39)	K101*	probably null	Het
Snph	G	A	2: 151,436,434 (GRCm39)	Q96*	probably null	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Ssc5d	A	T	7: 4,932,524 (GRCm39)	H396L	probably damaging	Het
Sulf1	A	C	1: 12,856,876 (GRCm39)	R42S	probably damaging	Het
Taf1a	T	A	1: 183,181,752 (GRCm39)		probably benign	Het
Thoc5	T	A	11: 4,876,218 (GRCm39)	M609K	probably damaging	Het
Tiam2	A	T	17: 3,568,617 (GRCm39)	I1588F	probably damaging	Het
Tmcc1	C	T	6: 116,020,247 (GRCm39)	V402I	probably damaging	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trbv31	T	C	6: 41,534,901 (GRCm39)	I21V	probably benign	Het
Vmn1r74	A	T	7: 11,581,398 (GRCm39)	T233S	possibly damaging	Het
Vmn1r74	G	C	7: 11,581,403 (GRCm39)	Q234H	probably damaging	Het
Vsx1	A	T	2: 150,530,529 (GRCm39)	S118T	probably benign	Het
Wnt9b	G	A	11: 103,621,949 (GRCm39)	T236I	probably benign	Het
Zc3hc1	G	A	6: 30,387,523 (GRCm39)	T52I	probably benign	Het
Zfp558	T	A	9: 18,367,577 (GRCm39)	N404Y	possibly damaging	Het
Zfp735	A	T	11: 73,602,031 (GRCm39)	D325V	probably damaging	Het
Zhx3	A	T	2: 160,623,879 (GRCm39)	M96K	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
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
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'- TCCAGAAAGCTGTGAGGTCATTTC -3'
(R):5'- ACCCTTGCCCAAGATTCAG -3'

Sequencing Primer
(F):5'- AAAGCTGTGAGGTCATTTCTAGCC -3'
(R):5'- AAGATTCAGCCCCTGGAGC -3'

Posted On

2015-09-25