Mutagenetix > Incidental Mutation

Incidental Mutation 'R7424:Zbtb11'

575952

Institutional Source

Beutler Lab

Gene Symbol

Zbtb11

Ensembl Gene

ENSMUSG00000022601

Gene Name

zinc finger and BTB domain containing 11

Synonyms

9230110G02Rik, ZNF-U69274

MMRRC Submission

045502-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55794246-55829276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55810850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 336 (H336L)

Ref Sequence

ENSEMBL: ENSMUSP00000056923 (fasta)

Gene Model

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

AlphaFold

G5E8B9

Predicted Effect

probably benign
Transcript: ENSMUST00000050248
AA Change: H336L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: H336L

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

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,284 (GRCm39)	R71C	probably damaging	Het
Aanat	A	T	11: 116,486,455 (GRCm39)		probably benign	Het
Ahrr	G	T	13: 74,405,664 (GRCm39)	S91*	probably null	Het
Ampd1	A	T	3: 102,995,758 (GRCm39)	N223Y	probably benign	Het
Ankar	T	G	1: 72,719,217 (GRCm39)	N544T	probably damaging	Het
Ankk1	A	G	9: 49,330,050 (GRCm39)	S302P	possibly damaging	Het
Bcr	T	C	10: 74,992,932 (GRCm39)	V809A	probably benign	Het
Bpifb2	A	G	2: 153,732,460 (GRCm39)	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,074,835 (GRCm39)		probably null	Het
Ddx5	A	T	11: 106,673,006 (GRCm39)	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244 (GRCm39)	I239F	probably benign	Het
Ethe1	C	T	7: 24,305,676 (GRCm39)	T141I	probably damaging	Het
Fhip2b	T	C	14: 70,831,447 (GRCm39)	H29R	probably damaging	Het
Gdap2	A	T	3: 100,109,382 (GRCm39)	I36F	unknown	Het
Gm13030	A	T	4: 138,598,577 (GRCm39)	D115E	unknown	Het
Gm17019	A	T	5: 15,079,386 (GRCm39)	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,673,217 (GRCm39)	E2517D	possibly damaging	Het
Gramd2a	T	A	9: 59,615,354 (GRCm39)	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,506,017 (GRCm39)	W3836*	probably null	Het
Hspa14	C	T	2: 3,490,078 (GRCm39)	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,550,598 (GRCm39)	N46S	probably benign	Het
Ifna6	A	T	4: 88,746,044 (GRCm39)	E131V	possibly damaging	Het
Ift140	T	C	17: 25,256,010 (GRCm39)	V504A	possibly damaging	Het
Irgc	T	C	7: 24,131,653 (GRCm39)	N388S	probably damaging	Het
Itgal	T	A	7: 126,916,537 (GRCm39)	V743E	probably benign	Het
Itih5	T	C	2: 10,250,448 (GRCm39)	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,173,924 (GRCm39)	K78N	possibly damaging	Het
Kif1a	A	T	1: 92,982,039 (GRCm39)	V787E	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt39	A	T	11: 99,408,917 (GRCm39)	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,711,663 (GRCm39)	F720S	possibly damaging	Het
Map2	G	A	1: 66,453,983 (GRCm39)	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,770,871 (GRCm39)	S906P	probably benign	Het
Mdc1	T	C	17: 36,164,201 (GRCm39)	S1250P	probably benign	Het
Meltf	G	A	16: 31,703,764 (GRCm39)	V164I	probably damaging	Het
Mtap	T	G	4: 89,097,699 (GRCm39)		probably null	Het
Mtus1	C	A	8: 41,475,443 (GRCm39)	V184F	probably damaging	Het
Myh1	A	T	11: 67,104,489 (GRCm39)	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,816,787 (GRCm39)		probably null	Het
Nkd1	G	T	8: 89,311,803 (GRCm39)	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,342,673 (GRCm39)	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,431,391 (GRCm39)		probably null	Het
Nucb1	T	C	7: 45,148,202 (GRCm39)	K204E	possibly damaging	Het
Nwd1	T	G	8: 73,401,801 (GRCm39)	M774R	possibly damaging	Het
Or2m13	A	T	16: 19,225,944 (GRCm39)	V274E	probably damaging	Het
Or52u1	G	C	7: 104,237,907 (GRCm39)	E299Q	probably damaging	Het
Or5an1c	A	T	19: 12,218,318 (GRCm39)	S236T	possibly damaging	Het
Pan3	T	A	5: 147,473,082 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,342,317 (GRCm39)	T1135S	probably benign	Het
Pfas	A	G	11: 68,890,918 (GRCm39)	I331T	probably damaging	Het
Plxna2	T	A	1: 194,488,647 (GRCm39)	I1641N	probably damaging	Het
Pramel27	C	T	4: 143,579,779 (GRCm39)	P455S	probably benign	Het
Ptar1	A	T	19: 23,695,465 (GRCm39)	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,315,016 (GRCm39)	M1912R	probably damaging	Het
Rbm12	A	G	2: 155,939,223 (GRCm39)	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,021,468 (GRCm39)	D96G	probably benign	Het
Serpinb6b	T	A	13: 33,152,650 (GRCm39)	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,494,147 (GRCm39)	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,088,445 (GRCm39)	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
St8sia2	T	A	7: 73,610,650 (GRCm39)	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,468,822 (GRCm39)	I96T	possibly damaging	Het
Tab2	G	T	10: 7,783,247 (GRCm39)	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 51,928,228 (GRCm39)	E14G	probably benign	Het
Trip11	A	T	12: 101,851,457 (GRCm39)	L869H	probably damaging	Het
Tslp	T	C	18: 32,952,133 (GRCm39)	Y133H	not run	Het
Ttn	T	C	2: 76,571,334 (GRCm39)	I26520V	probably damaging	Het
Ttn	A	G	2: 76,762,487 (GRCm39)	V3374A	unknown	Het
Tubgcp2	T	A	7: 139,587,837 (GRCm39)	I263F	possibly damaging	Het
Uaca	A	G	9: 60,777,392 (GRCm39)	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235 (GRCm39)	T1021I	unknown	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Usp24	C	A	4: 106,236,304 (GRCm39)	D997E	probably benign	Het
Usp54	T	C	14: 20,627,108 (GRCm39)	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,198,505 (GRCm39)	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,328 (GRCm39)	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,213,076 (GRCm39)	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,254,849 (GRCm39)	P612T	probably damaging	Het
Vps13d	A	T	4: 144,875,317 (GRCm39)	V1736D		Het

Other mutations in Zbtb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Zbtb11	APN	16	55,820,965 (GRCm39)	nonsense	probably null
IGL01107:Zbtb11	APN	16	55,826,370 (GRCm39)	missense	probably damaging	1.00
IGL01341:Zbtb11	APN	16	55,811,294 (GRCm39)	missense	possibly damaging	0.68
IGL01510:Zbtb11	APN	16	55,810,706 (GRCm39)	missense	probably damaging	0.99
IGL01611:Zbtb11	APN	16	55,800,973 (GRCm39)	missense	probably damaging	1.00
IGL01736:Zbtb11	APN	16	55,818,523 (GRCm39)	missense	probably damaging	1.00
IGL01834:Zbtb11	APN	16	55,811,371 (GRCm39)	missense	probably benign	0.35
IGL02427:Zbtb11	APN	16	55,802,713 (GRCm39)	missense	possibly damaging	0.95
IGL02441:Zbtb11	APN	16	55,794,552 (GRCm39)	missense	possibly damaging	0.94
IGL02455:Zbtb11	APN	16	55,821,038 (GRCm39)	missense	probably damaging	1.00
PIT4544001:Zbtb11	UTSW	16	55,818,556 (GRCm39)	nonsense	probably null
R0987:Zbtb11	UTSW	16	55,811,071 (GRCm39)	missense	probably benign	0.00
R1414:Zbtb11	UTSW	16	55,810,923 (GRCm39)	nonsense	probably null
R1437:Zbtb11	UTSW	16	55,811,983 (GRCm39)	critical splice donor site	probably null
R1570:Zbtb11	UTSW	16	55,811,178 (GRCm39)	missense	probably benign
R1658:Zbtb11	UTSW	16	55,794,588 (GRCm39)	missense	possibly damaging	0.71
R1735:Zbtb11	UTSW	16	55,811,045 (GRCm39)	missense	probably benign
R2048:Zbtb11	UTSW	16	55,818,372 (GRCm39)	missense	probably damaging	1.00
R2925:Zbtb11	UTSW	16	55,794,447 (GRCm39)	missense	probably benign	0.00
R4072:Zbtb11	UTSW	16	55,818,427 (GRCm39)	missense	possibly damaging	0.89
R4075:Zbtb11	UTSW	16	55,818,427 (GRCm39)	missense	possibly damaging	0.89
R4076:Zbtb11	UTSW	16	55,818,427 (GRCm39)	missense	possibly damaging	0.89
R5023:Zbtb11	UTSW	16	55,826,428 (GRCm39)	missense	probably damaging	1.00
R5755:Zbtb11	UTSW	16	55,821,076 (GRCm39)	missense	probably benign	0.02
R5757:Zbtb11	UTSW	16	55,827,392 (GRCm39)	missense	probably damaging	1.00
R6218:Zbtb11	UTSW	16	55,818,436 (GRCm39)	missense	probably benign	0.00
R6313:Zbtb11	UTSW	16	55,810,854 (GRCm39)	missense	probably benign	0.03
R6461:Zbtb11	UTSW	16	55,827,234 (GRCm39)	missense	probably damaging	0.99
R6666:Zbtb11	UTSW	16	55,826,615 (GRCm39)	missense	probably damaging	1.00
R6807:Zbtb11	UTSW	16	55,810,865 (GRCm39)	missense	probably benign	0.03
R7194:Zbtb11	UTSW	16	55,827,551 (GRCm39)	missense	probably damaging	1.00
R8022:Zbtb11	UTSW	16	55,826,383 (GRCm39)	missense	probably damaging	0.99
R8436:Zbtb11	UTSW	16	55,821,022 (GRCm39)	nonsense	probably null
R8532:Zbtb11	UTSW	16	55,811,252 (GRCm39)	missense	probably benign	0.03
R8806:Zbtb11	UTSW	16	55,802,637 (GRCm39)	missense	probably damaging	1.00
R9033:Zbtb11	UTSW	16	55,818,492 (GRCm39)	missense	probably benign
R9673:Zbtb11	UTSW	16	55,827,336 (GRCm39)	missense	probably damaging	1.00
RF014:Zbtb11	UTSW	16	55,800,960 (GRCm39)	missense	probably damaging	0.97
Z1176:Zbtb11	UTSW	16	55,811,865 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGTAAAGCAAGCTTCCTTCC -3'
(R):5'- ACACACTAGCTTCAGCCTCTG -3'

Sequencing Primer
(F):5'- GCTGGAATTTGCCTATACTTCTG -3'
(R):5'- TTCAGCCTCTGGAGAAGCCTG -3'

Posted On

2019-10-07