Mutagenetix > Incidental Mutation

Incidental Mutation 'R6358:Zbtb22'

513368

Institutional Source

Beutler Lab

Gene Symbol

Zbtb22

Ensembl Gene

ENSMUSG00000051390

Gene Name

zinc finger and BTB domain containing 22

Synonyms

1110008J20Rik, Bing1, Zfp297

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R6358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33915904-33919324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33918737 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 619 (S619P)

Ref Sequence

ENSEMBL: ENSMUSP00000057466 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000053429
AA Change: S619P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390
AA Change: S619P

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: ENSMUST00000173279

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

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

noncoding transcript
Transcript: ENSMUST00000174646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189156

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 40,826,681	V703A	probably benign	Het
Adgrv1	T	A	13: 81,414,583	Q5389L	probably damaging	Het
Aldh18a1	A	T	19: 40,577,678	I42N	possibly damaging	Het
Ankrd28	A	C	14: 31,710,864	C575W	probably damaging	Het
Car14	T	A	3: 95,898,175	T329S	possibly damaging	Het
Cdhr2	T	C	13: 54,736,546	F1298S	probably damaging	Het
Crhr2	A	G	6: 55,093,043	I341T	probably benign	Het
D5Ertd579e	T	A	5: 36,616,236		probably null	Het
Emilin1	A	G	5: 30,918,218	E601G	probably damaging	Het
Erbin	T	A	13: 103,845,565	Q456L	probably damaging	Het
Glp1r	T	C	17: 30,932,644	V405A	probably benign	Het
Gm10220	C	G	5: 26,120,305		probably null	Het
Gm2016	A	G	12: 87,877,000	E139G	unknown	Het
Gm527	A	T	12: 64,923,548	H219L	possibly damaging	Het
Gorasp2	T	A	2: 70,672,760	M1K	probably null	Het
H2-DMa	T	A	17: 34,137,984	L152H	probably damaging	Het
Hsd3b7	T	A	7: 127,801,537	H54Q	probably damaging	Het
Hspa12b	T	C	2: 131,137,066		probably benign	Het
Iars	C	A	13: 49,727,143	T1006K	possibly damaging	Het
Jmjd1c	T	C	10: 67,225,939	V1357A	probably benign	Het
Magi3	T	C	3: 104,050,952	M606V	probably damaging	Het
Mia	T	C	7: 27,180,978	D24G	probably benign	Het
Mon2	A	T	10: 123,013,504	L1297Q	probably damaging	Het
Musk	T	A	4: 58,373,171	S691T	possibly damaging	Het
Myo5c	A	T	9: 75,296,012	E1463D	possibly damaging	Het
Ndufs6	C	T	13: 73,320,319	G87D	probably damaging	Het
Npnt	C	T	3: 132,904,718	V415I	probably benign	Het
Ntsr2	A	G	12: 16,656,768	I266V	probably benign	Het
Olfr259	T	C	2: 87,108,434		probably benign	Het
Olfr736	A	T	14: 50,393,388	I211F	possibly damaging	Het
Pkmyt1	T	A	17: 23,733,656		probably null	Het
Polr1e	T	C	4: 45,026,813	L166P	probably damaging	Het
Ppib	T	G	9: 66,061,474	F48C	probably damaging	Het
Ppl	C	A	16: 5,087,929	E1501*	probably null	Het
Prpf8	T	C	11: 75,491,495	V384A	probably benign	Het
Ptch1	T	G	13: 63,513,689	S1212R	probably damaging	Het
Ralb	C	A	1: 119,476,005	D131Y	probably damaging	Het
Rfx4	T	A	10: 84,844,235	M141K	probably damaging	Het
Rgl2	T	A	17: 33,937,131		probably null	Het
Rpl27	A	G	11: 101,443,956		probably benign	Het
Sdc1	A	C	12: 8,791,297	T213P	probably damaging	Het
Setx	T	A	2: 29,171,348	N2256K	possibly damaging	Het
Shank2	A	G	7: 144,031,297	M12V	probably benign	Het
Slc22a28	T	A	19: 8,071,888	K332M	probably damaging	Het
Slf2	A	T	19: 44,935,425	H226L	probably benign	Het
Tbc1d10b	T	C	7: 127,203,412	S362G	probably benign	Het
Tbxas1	G	A	6: 38,952,112		probably benign	Het
Tctn1	A	G	5: 122,261,512	V83A	probably damaging	Het
Tgm4	A	G	9: 123,056,518	E375G	probably damaging	Het
Tmeff2	T	A	1: 51,133,114	Y247*	probably null	Het
Tmem167b	C	T	3: 108,558,895	R79H	possibly damaging	Het
Tmprss7	T	G	16: 45,669,573	M429L	probably benign	Het
Tnfsf18	T	A	1: 161,503,579	D99E	probably benign	Het
Tnrc18	A	T	5: 142,727,981	S2534T	probably damaging	Het
Tnxb	A	G	17: 34,678,994	E872G	probably damaging	Het
Tomm40l	C	T	1: 171,219,637	V237I	possibly damaging	Het
Trbv2	A	G	6: 41,047,902	Q84R	probably benign	Het
Tspan18	T	C	2: 93,209,874	R179G	probably benign	Het
Tspan8	G	T	10: 115,833,227	V56L	probably benign	Het
Zfp2	A	T	11: 50,900,601	I205N	probably damaging	Het
Zfpm1	A	G	8: 122,337,111		probably benign	Het

Other mutations in Zbtb22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02850:Zbtb22	APN	17	33917013	missense	probably damaging	1.00
PIT4515001:Zbtb22	UTSW	17	33918698	missense	probably benign	0.00
R0539:Zbtb22	UTSW	17	33918144	missense	possibly damaging	0.93
R0972:Zbtb22	UTSW	17	33917352	missense	possibly damaging	0.57
R2217:Zbtb22	UTSW	17	33917965	missense	probably damaging	1.00
R2218:Zbtb22	UTSW	17	33917965	missense	probably damaging	1.00
R2520:Zbtb22	UTSW	17	33916982	missense	probably damaging	1.00
R3806:Zbtb22	UTSW	17	33916946	unclassified	probably benign
R4086:Zbtb22	UTSW	17	33918168	missense	probably damaging	0.99
R5004:Zbtb22	UTSW	17	33917243	missense	probably benign	0.29
R5141:Zbtb22	UTSW	17	33918636	missense	possibly damaging	0.81
R5158:Zbtb22	UTSW	17	33918449	missense	probably damaging	0.97
R5677:Zbtb22	UTSW	17	33917735	missense	probably benign
R5804:Zbtb22	UTSW	17	33918619	frame shift	probably null
R6495:Zbtb22	UTSW	17	33917250	missense	probably damaging	1.00
R6975:Zbtb22	UTSW	17	33917964	missense	probably damaging	1.00
R7561:Zbtb22	UTSW	17	33917978	missense	probably benign	0.01
R7658:Zbtb22	UTSW	17	33918497	missense	probably damaging	0.99
R7664:Zbtb22	UTSW	17	33918579	missense	probably benign	0.01
R8146:Zbtb22	UTSW	17	33916982	missense	probably damaging	0.99
R9687:Zbtb22	UTSW	17	33917876	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAAGAAGTTCATGTGGCG -3'
(R):5'- CCACGCCCTTCTCTAGAATATATAC -3'

Sequencing Primer
(F):5'- GACAGTTTCATGCGTCACCG -3'
(R):5'- TATATACAAGTCCACCGAGGTAAG -3'

Posted On

2018-04-27