Mutagenetix > Incidental Mutation

Incidental Mutation 'RF014:Zbtb11'

603440

Institutional Source

Beutler Lab

Gene Symbol

Zbtb11

Ensembl Gene

ENSMUSG00000022601

Gene Name

zinc finger and BTB domain containing 11

Synonyms

ZNF-U69274, 9230110G02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

RF014 (G1)

Quality Score

189.009

Status

Validated

Chromosome

Chromosomal Location

55973883-56008913 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55980597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 105 (I105L)

Ref Sequence

ENSEMBL: ENSMUSP00000056923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050248]

AlphaFold

G5E8B9

Predicted Effect

probably damaging
Transcript: ENSMUST00000050248
AA Change: I105L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: I105L

Domain	Start	End	E-Value	Type
low complexity region	136	158	N/A	INTRINSIC
low complexity region	161	177	N/A	INTRINSIC
BTB	214	312	4.77e-13	SMART
low complexity region	371	399	N/A	INTRINSIC
ZnF_C2H2	566	588	1.1e-2	SMART
ZnF_C2H2	594	616	2.09e-3	SMART
low complexity region	623	640	N/A	INTRINSIC
ZnF_C2H2	648	670	4.47e-3	SMART
ZnF_C2H2	676	698	8.22e-2	SMART
ZnF_C2H2	704	726	2.27e-4	SMART
ZnF_C2H2	732	754	1.28e-3	SMART
ZnF_C2H2	763	785	2.95e-3	SMART
ZnF_C2H2	791	813	7.67e-2	SMART
ZnF_C2H2	819	843	2.95e-3	SMART
ZnF_C2H2	855	877	1.67e-2	SMART
ZnF_C2H2	883	905	3.02e0	SMART
ZnF_C2H2	911	934	9.58e-3	SMART
low complexity region	979	994	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,857		probably benign	Het
9530003J23Rik	A	G	10: 117,234,417	*152Q	probably null	Het
A2ml1	T	C	6: 128,570,068	N366S	probably damaging	Het
Abca5	T	C	11: 110,279,754		probably null	Het
Acaca	T	C	11: 84,231,724	V323A	probably benign	Het
Agbl3	T	A	6: 34,799,358	D266E	possibly damaging	Het
Aggf1	A	T	13: 95,370,768	S170T	possibly damaging	Het
Amhr2	A	T	15: 102,453,154	S467C	probably benign	Het
Begain	GCCGCC	GCCGCCACCGCC	12: 109,033,422		probably benign	Het
Best3	A	T	10: 117,004,505	Q280L	probably damaging	Het
Calhm1	CTGTGGCTGTGG	CTGTGGCTGTGGGTGTGGCTGTGG	19: 47,141,265		probably benign	Het
Ccdc186	A	G	19: 56,813,472	L71S	probably benign	Het
Ces1d	C	A	8: 93,176,165		probably null	Het
Chga	AGC	AGCGGC	12: 102,561,393		probably benign	Het
Chga	AGC	AGCTGC	12: 102,561,405		probably benign	Het
Clstn3	T	A	6: 124,459,266	K212*	probably null	Het
Col16a1	TTTTT	TTTTTCTTTT	4: 130,093,067		probably benign	Het
Cpxm2	G	T	7: 132,070,863	T319K	possibly damaging	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC	9: 87,040,415		probably benign	Het
Dst	T	C	1: 34,247,679	S3364P	probably benign	Het
Edc4	C	T	8: 105,884,600	T61M	probably benign	Het
Fndc5	A	G	4: 129,142,167	H199R	probably benign	Het
Gm43302	T	A	5: 105,274,757	I470F	possibly damaging	Het
Gne	G	T	4: 44,060,045	A147D	probably damaging	Het
Igkv12-89	G	GCAACGCCAC	6: 68,835,286		probably benign	Het
Irf9	C	T	14: 55,605,877	R179*	probably null	Het
Jakmip1	A	T	5: 37,174,526	K850M	possibly damaging	Het
Kalrn	G	A	16: 34,039,933	T1884I	probably benign	Het
Krtap28-10	CCACCACAGCCACAGCCACCACAGCCACAG	CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG	1: 83,042,251		probably benign	Het
Las1l	CTCCTCCTTCTCCTCTTCCTC	CTCCTC	X: 95,940,657		probably benign	Het
Lctl	A	G	9: 64,118,930	Y89C	probably damaging	Het
Lpgat1	GCC	GCCTCC	1: 191,718,553		probably benign	Het
Luzp2	A	T	7: 55,172,205	I157F	probably damaging	Het
Mamld1	GCA	GCACCA	X: 71,118,845		probably benign	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 121,306,295		probably benign	Het
Mbd3l1	A	T	9: 18,485,000	E140D	possibly damaging	Het
Mlh3	T	A	12: 85,268,029	Q461L	probably benign	Het
Mto1	G	T	9: 78,448,316	R7L	probably benign	Het
Muc4	A	T	16: 32,751,858	S579C	probably damaging	Het
Ngfr	T	C	11: 95,578,201	Y117C	probably damaging	Het
Olfr432	A	T	1: 174,050,987	I205F	possibly damaging	Het
Olfr537-ps1	A	T	7: 140,538,777	M87L	probably benign	Het
Olfr926	C	A	9: 38,877,900	H241Q	probably benign	Het
Plch2	A	G	4: 155,007,120	S179P	probably damaging	Het
Pogz	T	G	3: 94,878,247	S838A	possibly damaging	Het
Pot1b	T	A	17: 55,674,106	T303S	probably benign	Het
Pou2f2	T	A	7: 25,115,737	I72L	unknown	Het
Ppil2	C	T	16: 17,097,418	V109M	probably damaging	Het
Ptpn4	A	G	1: 119,684,465		probably null	Het
Ptprs	A	T	17: 56,416,935	I1686N	probably damaging	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,858,489		probably benign	Het
Rnf14	T	A	18: 38,309,570	V308E	probably damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,346		probably benign	Het
Sgo2b	T	C	8: 63,931,405	T186A	possibly damaging	Het
Six3	CGG	CGGTGG	17: 85,621,356		probably benign	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Stox1	T	A	10: 62,664,246	H845L	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,665		probably benign	Het
Thegl	CAGCGATCCTCCCCAGTCCCGCA	CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA	5: 77,016,400		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,801,283		probably benign	Het
Trim33	T	C	3: 103,329,092	V506A	possibly damaging	Het
Uckl1	T	C	2: 181,570,194	D373G	probably benign	Het
Vmn2r94	G	T	17: 18,253,287	C492*	probably null	Het
Wdr33	A	G	18: 31,881,273	D396G	probably damaging	Het
Zbtb40	A	T	4: 137,017,306	C268S	probably benign	Het
Zfp36l1	T	A	12: 80,109,744	M288L	probably benign	Het
Zfp384	CC	CCAAGGCCCAGGAC	6: 125,036,466		probably benign	Het
Zfp72	A	G	13: 74,375,054	F15S	probably benign	Het
Znrd1as	CACCACCACCAC	CACCACCACCACCACCACCACGACCACCACCAC	17: 36,965,060		probably benign	Het

Other mutations in Zbtb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Zbtb11	APN	16	56000602	nonsense	probably null
IGL01107:Zbtb11	APN	16	56006007	missense	probably damaging	1.00
IGL01341:Zbtb11	APN	16	55990931	missense	possibly damaging	0.68
IGL01510:Zbtb11	APN	16	55990343	missense	probably damaging	0.99
IGL01611:Zbtb11	APN	16	55980610	missense	probably damaging	1.00
IGL01736:Zbtb11	APN	16	55998160	missense	probably damaging	1.00
IGL01834:Zbtb11	APN	16	55991008	missense	probably benign	0.35
IGL02427:Zbtb11	APN	16	55982350	missense	possibly damaging	0.95
IGL02441:Zbtb11	APN	16	55974189	missense	possibly damaging	0.94
IGL02455:Zbtb11	APN	16	56000675	missense	probably damaging	1.00
PIT4544001:Zbtb11	UTSW	16	55998193	nonsense	probably null
R0987:Zbtb11	UTSW	16	55990708	missense	probably benign	0.00
R1414:Zbtb11	UTSW	16	55990560	nonsense	probably null
R1437:Zbtb11	UTSW	16	55991620	critical splice donor site	probably null
R1570:Zbtb11	UTSW	16	55990815	missense	probably benign
R1658:Zbtb11	UTSW	16	55974225	missense	possibly damaging	0.71
R1735:Zbtb11	UTSW	16	55990682	missense	probably benign
R2048:Zbtb11	UTSW	16	55998009	missense	probably damaging	1.00
R2925:Zbtb11	UTSW	16	55974084	missense	probably benign	0.00
R4072:Zbtb11	UTSW	16	55998064	missense	possibly damaging	0.89
R4075:Zbtb11	UTSW	16	55998064	missense	possibly damaging	0.89
R4076:Zbtb11	UTSW	16	55998064	missense	possibly damaging	0.89
R5023:Zbtb11	UTSW	16	56006065	missense	probably damaging	1.00
R5755:Zbtb11	UTSW	16	56000713	missense	probably benign	0.02
R5757:Zbtb11	UTSW	16	56007029	missense	probably damaging	1.00
R6218:Zbtb11	UTSW	16	55998073	missense	probably benign	0.00
R6313:Zbtb11	UTSW	16	55990491	missense	probably benign	0.03
R6461:Zbtb11	UTSW	16	56006871	missense	probably damaging	0.99
R6666:Zbtb11	UTSW	16	56006252	missense	probably damaging	1.00
R6807:Zbtb11	UTSW	16	55990502	missense	probably benign	0.03
R7194:Zbtb11	UTSW	16	56007188	missense	probably damaging	1.00
R7424:Zbtb11	UTSW	16	55990487	missense	probably benign	0.01
R8022:Zbtb11	UTSW	16	56006020	missense	probably damaging	0.99
R8436:Zbtb11	UTSW	16	56000659	nonsense	probably null
R8532:Zbtb11	UTSW	16	55990889	missense	probably benign	0.03
R8806:Zbtb11	UTSW	16	55982274	missense	probably damaging	1.00
R9033:Zbtb11	UTSW	16	55998129	missense	probably benign
R9673:Zbtb11	UTSW	16	56006973	missense	probably damaging	1.00
Z1176:Zbtb11	UTSW	16	55991502	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCTGTCTCAAAGTGGAAACAAAC -3'
(R):5'- GGTGAAGTTGCTCAGGTCATC -3'

Sequencing Primer
(F):5'- AGAGTACTGACTGCTCTTCCAGAG -3'
(R):5'- AAGTTGCTCAGGTCATCCTCCG -3'

Posted On

2019-12-04