Mutagenetix > Incidental Mutation

Incidental Mutation 'R5004:Zbtb22'

390118

Institutional Source

Beutler Lab

Gene Symbol

Zbtb22

Ensembl Gene

ENSMUSG00000051390

Gene Name

zinc finger and BTB domain containing 22

Synonyms

Bing1, 1110008J20Rik, Zfp297

MMRRC Submission

042597-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R5004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34135150-34138299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34136217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 121 (A121S)

Ref Sequence

ENSEMBL: ENSMUSP00000057466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025161] [ENSMUST00000053429] [ENSMUST00000079421] [ENSMUST00000170075] [ENSMUST00000172619] [ENSMUST00000174463] [ENSMUST00000174541] [ENSMUST00000174146]

AlphaFold

Q9Z0G7

Predicted Effect

probably benign
Transcript: ENSMUST00000025161

SMART Domains

Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
low complexity region	127	152	N/A	INTRINSIC
IG	168	292	3.45e0	SMART
IG_like	302	406	4.78e1	SMART
transmembrane domain	416	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053429
AA Change: A121S

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390
AA Change: A121S

Domain	Start	End	E-Value	Type
low complexity region	3	30	N/A	INTRINSIC
BTB	57	151	7.21e-22	SMART
low complexity region	152	176	N/A	INTRINSIC
low complexity region	317	355	N/A	INTRINSIC
low complexity region	390	403	N/A	INTRINSIC
low complexity region	431	443	N/A	INTRINSIC
low complexity region	460	479	N/A	INTRINSIC
ZnF_C2H2	483	504	1.24e2	SMART
ZnF_C2H2	510	532	1.28e-3	SMART
ZnF_C2H2	538	559	4.69e0	SMART
low complexity region	567	587	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079421

SMART Domains

Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
Pfam:Daxx	54	152	1.3e-51	PFAM
Blast:KISc	185	261	2e-17	BLAST
PDB:4H9S\|F	189	404	1e-131	PDB
SCOP:d1sig__	437	493	7e-3	SMART
low complexity region	573	584	N/A	INTRINSIC
low complexity region	693	715	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170075

SMART Domains

Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	740	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172489

SMART Domains

Protein: ENSMUSP00000133332
Gene: ENSMUSG00000024308

Domain	Start	End	E-Value	Type
IG	18	142	3.45e0	SMART
SCOP:d2fbjh2	143	189	2e-3	SMART
Blast:IG_like	152	206	6e-31	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172619

SMART Domains

Protein: ENSMUSP00000134695
Gene: ENSMUSG00000024308

Domain	Start	End	E-Value	Type
PDB:3F8U\|D	12	119	1e-38	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174646

Predicted Effect

probably benign
Transcript: ENSMUST00000174463

SMART Domains

Protein: ENSMUSP00000133345
Gene: ENSMUSG00000051390

Domain	Start	End	E-Value	Type
low complexity region	3	30	N/A	INTRINSIC
Pfam:BTB	47	87	7.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174541

SMART Domains

Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	702	1.5e-297	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174146

SMART Domains

Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	740	N/A	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	A	C	8: 13,605,927 (GRCm39)	D189E	possibly damaging	Het
Abca5	C	T	11: 110,170,202 (GRCm39)	E1298K	probably damaging	Het
Actg1	C	A	11: 120,238,986 (GRCm39)		probably benign	Het
Add2	A	G	6: 86,073,728 (GRCm39)	T206A	probably benign	Het
Alox12e	A	G	11: 70,212,330 (GRCm39)	V116A	probably benign	Het
Ankrd27	T	A	7: 35,307,800 (GRCm39)	D346E	probably damaging	Het
Arfgap3	T	A	15: 83,194,497 (GRCm39)	S391C	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Cars2	C	T	8: 11,568,956 (GRCm39)		probably null	Het
Cav3	A	G	6: 112,436,885 (GRCm39)	K38R	probably damaging	Het
Ccdc159	G	A	9: 21,844,241 (GRCm39)	R101H	probably damaging	Het
Cops7b	A	G	1: 86,515,132 (GRCm39)		probably benign	Het
Cyp4a12b	C	T	4: 115,295,310 (GRCm39)	T472I	probably benign	Het
Cyp4a32	T	C	4: 115,458,238 (GRCm39)	S23P	probably damaging	Het
Cyp4f13	T	G	17: 33,144,760 (GRCm39)	I275L	probably benign	Het
Dlgap1	T	A	17: 71,025,222 (GRCm39)		probably null	Het
Dnajc12	A	T	10: 63,222,486 (GRCm39)	I4L	probably benign	Het
Ephb2	T	A	4: 136,387,010 (GRCm39)	D739V	possibly damaging	Het
Fam169a	A	G	13: 97,234,100 (GRCm39)	Y124C	probably damaging	Het
Fbln5	T	A	12: 101,727,080 (GRCm39)	N303I	probably damaging	Het
Fdxr	T	C	11: 115,160,399 (GRCm39)	E352G	probably benign	Het
Fhad1	T	G	4: 141,729,910 (GRCm39)		probably null	Het
Fhod1	C	T	8: 106,063,577 (GRCm39)		probably benign	Het
Fndc7	G	A	3: 108,790,789 (GRCm39)	T79M	probably damaging	Het
Fry	A	G	5: 150,357,069 (GRCm39)	Q1872R	probably benign	Het
Gbx1	T	C	5: 24,709,837 (GRCm39)	H336R	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gpr15lg	A	T	14: 36,824,622 (GRCm39)	C60S	probably damaging	Het
Hacl1	C	A	14: 31,340,996 (GRCm39)	C346F	probably benign	Het
Hectd4	C	A	5: 121,466,262 (GRCm39)		probably null	Het
Hectd4	C	T	5: 121,467,628 (GRCm39)	P2526S	possibly damaging	Het
Il3ra	A	T	14: 14,355,381 (GRCm38)	E289D	probably benign	Het
Itih4	T	G	14: 30,614,629 (GRCm39)	L497R	probably damaging	Het
Kcnh3	A	T	15: 99,124,383 (GRCm39)	K91*	probably null	Het
Kiz	C	G	2: 146,811,899 (GRCm39)	D669E	possibly damaging	Het
Klhl30	T	A	1: 91,287,046 (GRCm39)		probably null	Het
Kndc1	C	A	7: 139,512,792 (GRCm39)	C1514*	probably null	Het
Lipo2	A	G	19: 33,699,076 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,279,268 (GRCm39)	D5921G	probably damaging	Het
Mau2	A	G	8: 70,478,537 (GRCm39)	Y394H	probably damaging	Het
Mctp1	T	A	13: 76,789,923 (GRCm39)	S50R	possibly damaging	Het
Mllt10	T	C	2: 18,175,079 (GRCm39)	Y3H	probably damaging	Het
Mon1b	T	C	8: 114,365,859 (GRCm39)	S396P	probably damaging	Het
Mrgpra4	A	C	7: 47,631,535 (GRCm39)	L22R	probably benign	Het
Msln	T	G	17: 25,973,193 (GRCm39)	M1L	possibly damaging	Het
Myh15	T	A	16: 48,952,411 (GRCm39)	I827N	probably damaging	Het
Myh7	T	C	14: 55,209,140 (GRCm39)	D1866G	probably damaging	Het
Myo5b	T	G	18: 74,877,844 (GRCm39)		probably null	Het
Nlrc5	T	G	8: 95,247,844 (GRCm39)		probably benign	Het
Nup210l	A	T	3: 90,087,472 (GRCm39)	R1082*	probably null	Het
Or12k7	A	G	2: 36,958,422 (GRCm39)	Y35C	probably damaging	Het
Or4f4b	G	A	2: 111,314,005 (GRCm39)	V105I	possibly damaging	Het
Or5p63	T	A	7: 107,811,323 (GRCm39)	K138*	probably null	Het
Or7e169	T	C	9: 19,757,398 (GRCm39)	I172M	probably benign	Het
Pi4ka	A	T	16: 17,195,033 (GRCm39)	C122S	probably damaging	Het
Pkd2l1	G	T	19: 44,138,016 (GRCm39)	A690E	probably benign	Het
Pramel22	T	C	4: 143,380,706 (GRCm39)	Q439R	probably benign	Het
Prickle2	A	T	6: 92,393,736 (GRCm39)	D312E	probably benign	Het
Prrc2a	T	A	17: 35,368,974 (GRCm39)	N2021Y	probably benign	Het
Prss3	T	C	6: 41,350,836 (GRCm39)	Y218C	probably damaging	Het
Psg20	T	C	7: 18,414,837 (GRCm39)	T350A	probably damaging	Het
Ptprg	A	T	14: 12,220,667 (GRCm38)	I1235F	probably damaging	Het
Ptprk	T	A	10: 28,462,059 (GRCm39)	D1181E	possibly damaging	Het
Rcc2	T	A	4: 140,444,977 (GRCm39)	S415T	possibly damaging	Het
Ripor1	CAA	CA	8: 106,345,452 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,639 (GRCm39)	L68P	probably damaging	Het
Rsph6a	A	T	7: 18,791,665 (GRCm39)	E278V	possibly damaging	Het
Rubcnl	C	T	14: 75,269,617 (GRCm39)	Q92*	probably null	Het
Scfd1	A	G	12: 51,491,777 (GRCm39)	R580G	probably benign	Het
Sec31a	A	T	5: 100,516,192 (GRCm39)	N967K	probably damaging	Het
Sema4b	C	A	7: 79,866,093 (GRCm39)	T154N	probably benign	Het
Septin14	T	A	5: 129,770,040 (GRCm39)	I219F	possibly damaging	Het
Serpinb9c	A	T	13: 33,334,338 (GRCm39)	S235T	probably benign	Het
Setd4	G	T	16: 93,388,133 (GRCm39)	H118N	probably benign	Het
Siglec1	C	T	2: 130,911,789 (GRCm39)	V1697M	probably benign	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Soat2	T	A	15: 102,069,546 (GRCm39)	H402Q	probably damaging	Het
Sp3	A	T	2: 72,768,633 (GRCm39)	V666D	probably benign	Het
Spef2	T	G	15: 9,578,413 (GRCm39)	S1704R	probably benign	Het
Spidr	A	T	16: 15,936,806 (GRCm39)	W100R	possibly damaging	Het
Steap1	G	T	5: 5,792,829 (GRCm39)	Y27*	probably null	Het
Svep1	G	T	4: 58,087,751 (GRCm39)	T1776K	probably benign	Het
Tdpoz1	T	A	3: 93,578,440 (GRCm39)	T115S	probably benign	Het
Tet2	A	T	3: 133,193,140 (GRCm39)	H431Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,611,872 (GRCm39)	V170G	probably benign	Het
Tom1	T	C	8: 75,778,630 (GRCm39)	L99P	probably damaging	Het
Trim11	C	A	11: 58,872,164 (GRCm39)		probably benign	Het
Trio	T	C	15: 27,755,264 (GRCm39)	K955R	probably damaging	Het
Tubd1	C	T	11: 86,452,146 (GRCm39)	T371I	probably damaging	Het
Usp17lb	C	T	7: 104,490,884 (GRCm39)	M13I	probably benign	Het
Usp29	A	G	7: 6,965,158 (GRCm39)	M334V	probably benign	Het
Usp34	A	G	11: 23,414,586 (GRCm39)	Y2843C	probably damaging	Het
Utp20	A	T	10: 88,584,135 (GRCm39)	I2674N	probably damaging	Het
Vmn2r14	T	G	5: 109,368,246 (GRCm39)	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,247,848 (GRCm39)	F772I	probably damaging	Het
Vmn2r51	T	A	7: 9,821,932 (GRCm39)	E584D	probably benign	Het
Zfp273	A	T	13: 67,973,673 (GRCm39)	H267L	probably damaging	Het
Zkscan2	C	T	7: 123,089,267 (GRCm39)	V335M	probably damaging	Het

Other mutations in Zbtb22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02850:Zbtb22	APN	17	34,135,987 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Zbtb22	UTSW	17	34,137,672 (GRCm39)	missense	probably benign	0.00
R0539:Zbtb22	UTSW	17	34,137,118 (GRCm39)	missense	possibly damaging	0.93
R0972:Zbtb22	UTSW	17	34,136,326 (GRCm39)	missense	possibly damaging	0.57
R2217:Zbtb22	UTSW	17	34,136,939 (GRCm39)	missense	probably damaging	1.00
R2218:Zbtb22	UTSW	17	34,136,939 (GRCm39)	missense	probably damaging	1.00
R2520:Zbtb22	UTSW	17	34,135,956 (GRCm39)	missense	probably damaging	1.00
R3806:Zbtb22	UTSW	17	34,135,920 (GRCm39)	unclassified	probably benign
R4086:Zbtb22	UTSW	17	34,137,142 (GRCm39)	missense	probably damaging	0.99
R5141:Zbtb22	UTSW	17	34,137,610 (GRCm39)	missense	possibly damaging	0.81
R5158:Zbtb22	UTSW	17	34,137,423 (GRCm39)	missense	probably damaging	0.97
R5677:Zbtb22	UTSW	17	34,136,709 (GRCm39)	missense	probably benign
R5804:Zbtb22	UTSW	17	34,137,593 (GRCm39)	frame shift	probably null
R6358:Zbtb22	UTSW	17	34,137,711 (GRCm39)	missense	probably damaging	1.00
R6495:Zbtb22	UTSW	17	34,136,224 (GRCm39)	missense	probably damaging	1.00
R6975:Zbtb22	UTSW	17	34,136,938 (GRCm39)	missense	probably damaging	1.00
R7561:Zbtb22	UTSW	17	34,136,952 (GRCm39)	missense	probably benign	0.01
R7658:Zbtb22	UTSW	17	34,137,471 (GRCm39)	missense	probably damaging	0.99
R7664:Zbtb22	UTSW	17	34,137,553 (GRCm39)	missense	probably benign	0.01
R8146:Zbtb22	UTSW	17	34,135,956 (GRCm39)	missense	probably damaging	0.99
R9687:Zbtb22	UTSW	17	34,136,850 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTGTGATGTGTCCATCCG -3'
(R):5'- AGACTGATTCTCACTGGCCCTG -3'

Sequencing Primer
(F):5'- ATGTGTCCATCCGCGTGC -3'
(R):5'- CCTGCTGGAGGTATGGGAAC -3'

Posted On

2016-06-06