Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Zbtb21'

592130

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

045742-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97943357-97962622 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97951877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 402 (L402P)

Ref Sequence

ENSEMBL: ENSMUSP00000068283 (fasta)

Gene Model

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

AlphaFold

E9Q444

Predicted Effect

probably benign
Transcript: ENSMUST00000052089
AA Change: L430P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: L430P

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: L402P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: L402P

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: L430P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: L430P

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

probably benign
Transcript: ENSMUST00000231263

Predicted Effect

probably benign
Transcript: ENSMUST00000231560

Predicted Effect

probably benign
Transcript: ENSMUST00000232165

Predicted Effect

probably benign
Transcript: ENSMUST00000232187

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091 (GRCm38)	D219N	possibly damaging	Het
Adam26a	T	A	8: 43,570,153 (GRCm38)	H100L	probably benign	Het
Adgrf2	T	C	17: 42,711,372 (GRCm38)	N187S	probably damaging	Het
Adipoq	T	A	16: 23,157,582 (GRCm38)	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,531,925 (GRCm38)	S209T	probably benign	Het
Arrdc3	C	T	13: 80,889,093 (GRCm38)	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,689,039 (GRCm38)	N212D	probably benign	Het
Ccr9	A	T	9: 123,779,306 (GRCm38)	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,081 (GRCm38)	V270D	probably damaging	Het
Clic4	A	G	4: 135,217,205 (GRCm38)	Y220H	probably damaging	Het
Cntln	A	C	4: 84,979,340 (GRCm38)	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,631,643 (GRCm38)	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,501,614 (GRCm38)	N103D	probably benign	Het
Ddx60	T	C	8: 61,975,792 (GRCm38)	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,232 (GRCm38)		probably null	Het
Dnah7b	T	A	1: 46,109,302 (GRCm38)	D279E	probably benign	Het
Fam117a	A	G	11: 95,378,834 (GRCm38)	N308S	probably benign	Het
Fasn	A	G	11: 120,813,419 (GRCm38)	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,951,491 (GRCm38)	S625P	probably benign	Het
Gemin5	A	G	11: 58,147,928 (GRCm38)	V585A	probably benign	Het
Gm5145	C	A	17: 20,570,384 (GRCm38)	P8Q	probably benign	Het
Gm8332	T	C	12: 88,249,754 (GRCm38)	N116S	probably benign	Het
Herc1	C	A	9: 66,416,347 (GRCm38)	T1381K	probably damaging	Het
Herc6	T	C	6: 57,660,122 (GRCm38)	I824T	probably damaging	Het
Klrb1	C	T	6: 128,710,087 (GRCm38)	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,908,432 (GRCm38)	N154D	not run	Het
Lcp1	A	T	14: 75,200,431 (GRCm38)	I94F	probably benign	Het
Lin7a	A	T	10: 107,382,691 (GRCm38)	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,685,690 (GRCm38)	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,701,446 (GRCm38)	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015 (GRCm38)	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,438,746 (GRCm38)	H219Q	probably benign	Het
Nme8	T	C	13: 19,658,829 (GRCm38)	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,111,974 (GRCm38)		probably null	Het
Nuggc	A	G	14: 65,613,526 (GRCm38)	I298V	probably damaging	Het
Nup155	A	C	15: 8,153,696 (GRCm38)	K1247Q	probably damaging	Het
Olfr368	A	T	2: 37,331,759 (GRCm38)	E4V	probably benign	Het
Olfr403	A	G	11: 74,196,207 (GRCm38)	K235E	probably damaging	Het
Otud4	T	A	8: 79,655,864 (GRCm38)		probably null	Het
Pcdhb18	T	C	18: 37,491,696 (GRCm38)	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,677,182 (GRCm38)	F1108L	probably benign	Het
Prkca	A	T	11: 108,014,344 (GRCm38)	N189K	probably damaging	Het
Rbm24	A	G	13: 46,429,207 (GRCm38)	I201V	probably benign	Het
Reep6	T	C	10: 80,333,793 (GRCm38)	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,040 (GRCm38)		probably benign	Het
Rev3l	C	T	10: 39,836,722 (GRCm38)	T2382I	probably benign	Het
Rnf31	A	G	14: 55,594,361 (GRCm38)	N230S	probably benign	Het
Rreb1	T	C	13: 37,931,572 (GRCm38)	L969P	probably benign	Het
Rsph4a	T	A	10: 33,909,033 (GRCm38)	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,217,266 (GRCm38)	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,718,997 (GRCm38)	V232D	probably damaging	Het
Stmn2	T	C	3: 8,554,865 (GRCm38)	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424 (GRCm38)	G1373D	probably damaging	Het
Tmem206	A	G	1: 191,340,868 (GRCm38)	N162S	probably benign	Het
Tns1	C	A	1: 73,952,477 (GRCm38)	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620 (GRCm38)	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,135,867 (GRCm38)	C768*	probably null	Het
Ubl7	A	T	9: 57,929,769 (GRCm38)	E354D	probably benign	Het
Ush2a	T	C	1: 188,784,708 (GRCm38)	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,510,573 (GRCm38)	T1053A	possibly damaging	Het
Zfp27	T	A	7: 29,894,796 (GRCm38)	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,215,076 (GRCm38)		probably benign	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
R0184:Zbtb21	UTSW	16	97,950,513 (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
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'- GGAGTCTGCTCATATCTCTCTG -3'
(R):5'- TCAGGCGGTCACTGTCTATG -3'

Sequencing Primer
(F):5'- CAGGTCTCTCGTAGCTGCTG -3'
(R):5'- GGACAGCCAGGTTCCTGTTTAC -3'

Posted On

2019-11-12