Mutagenetix > Incidental Mutation

Incidental Mutation 'R2048:Zbtb11'

222285

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

040055-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R2048 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55794246-55829276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55818372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 599 (C599S)

Ref Sequence

ENSEMBL: ENSMUSP00000056923 (fasta)

Gene Model

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

AlphaFold

G5E8B9

Predicted Effect

probably damaging
Transcript: ENSMUST00000050248
AA Change: C599S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: C599S

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

Meta Mutation Damage Score

0.9639

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,647,357 (GRCm39)	D19G	possibly damaging	Het
Adhfe1	A	G	1: 9,633,778 (GRCm39)	K342R	probably benign	Het
Adk	A	G	14: 21,368,244 (GRCm39)	N223S	probably damaging	Het
Aff4	A	G	11: 53,289,212 (GRCm39)	S454G	probably benign	Het
Ahnak	T	A	19: 8,984,420 (GRCm39)	N1901K	probably damaging	Het
Camsap1	T	C	2: 25,819,755 (GRCm39)	T1578A	probably benign	Het
Ccdc63	A	C	5: 122,268,350 (GRCm39)		probably null	Het
Ceacam1	G	T	7: 25,176,113 (GRCm39)	S27Y	probably benign	Het
Cit	T	C	5: 116,024,872 (GRCm39)		probably null	Het
Cntn4	A	G	6: 106,414,825 (GRCm39)		probably benign	Het
Cyp2d26	A	G	15: 82,676,928 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,908,237 (GRCm39)	V204E	probably damaging	Het
Cyp51	G	A	5: 4,136,636 (GRCm39)		probably benign	Het
Dipk1a	T	C	5: 108,057,886 (GRCm39)	D179G	probably damaging	Het
Epb41l4b	T	G	4: 57,142,866 (GRCm39)	E96D	probably benign	Het
Epg5	A	G	18: 78,067,202 (GRCm39)	E2221G	probably damaging	Het
Fbxo21	T	A	5: 118,146,169 (GRCm39)	N597K	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fsip1	C	A	2: 118,072,197 (GRCm39)	E195D	probably damaging	Het
Gm10152	T	C	7: 144,317,049 (GRCm39)	F35L	unknown	Het
Gtpbp6	A	C	5: 110,254,931 (GRCm39)	V87G	probably damaging	Het
Hal	A	G	10: 93,327,002 (GRCm39)	T176A	probably damaging	Het
Il12rb2	G	T	6: 67,337,529 (GRCm39)	N117K	probably benign	Het
Kalrn	A	G	16: 34,072,680 (GRCm39)	V734A	probably benign	Het
Klf7	A	G	1: 64,117,913 (GRCm39)	V228A	possibly damaging	Het
Kng1	A	G	16: 22,877,354 (GRCm39)	Y54C	probably damaging	Het
Lpcat2	T	G	8: 93,596,471 (GRCm39)	N169K	possibly damaging	Het
Magohb	A	T	6: 131,266,385 (GRCm39)	S40R	probably damaging	Het
Mgam	A	G	6: 40,633,363 (GRCm39)	D186G	possibly damaging	Het
Mycbp2	A	G	14: 103,469,960 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,975,928 (GRCm39)	D1332G	probably damaging	Het
Myh9	G	A	15: 77,655,332 (GRCm39)	T1208M	possibly damaging	Het
Ncor2	C	T	5: 125,161,996 (GRCm39)	R426H	unknown	Het
Nradd	T	C	9: 110,450,697 (GRCm39)	E160G	probably benign	Het
Or10u4	G	A	10: 129,801,861 (GRCm39)	S230L	probably damaging	Het
Or2a54	T	A	6: 43,093,312 (GRCm39)	M212K	probably benign	Het
Otog	A	T	7: 45,937,063 (GRCm39)	T1591S	probably damaging	Het
Oxsr1	A	G	9: 119,076,140 (GRCm39)	S389P	probably benign	Het
Pde3a	A	G	6: 141,434,732 (GRCm39)		probably benign	Het
Pi4k2b	A	T	5: 52,905,773 (GRCm39)	I105L	probably benign	Het
Pilrb1	T	C	5: 137,853,153 (GRCm39)	R217G	possibly damaging	Het
Poteg	A	T	8: 27,946,774 (GRCm39)	I159L	probably benign	Het
Ppargc1a	A	G	5: 51,705,858 (GRCm39)	F75S	probably damaging	Het
Ptk2b	T	G	14: 66,409,954 (GRCm39)	D466A	probably benign	Het
Ptpn21	A	G	12: 98,655,785 (GRCm39)	V394A	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shisa3	G	A	5: 67,768,651 (GRCm39)	E184K	possibly damaging	Het
Slc4a2	A	G	5: 24,636,557 (GRCm39)	H283R	probably damaging	Het
Slc9a3	A	G	13: 74,311,860 (GRCm39)	S603G	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tbcd	G	T	11: 121,431,762 (GRCm39)	C470F	probably damaging	Het
Thsd1	A	G	8: 22,749,333 (GRCm39)	R674G	probably benign	Het
Zfp541	A	G	7: 15,812,252 (GRCm39)	R302G	possibly damaging	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
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
R7424:Zbtb11	UTSW	16	55,810,850 (GRCm39)	missense	probably benign	0.01
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'- TAGTGTTTCATATACCCTTGGCTG -3'
(R):5'- TACACCCGTGTGCTTTAGC -3'

Sequencing Primer
(F):5'- CATATACCCTTGGCTGTGTTTTGCG -3'
(R):5'- TGTATGCGGAGAGAGTATAATTTAGG -3'

Posted On

2014-08-25