Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01895:Zbtb38'

179361

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb38

Ensembl Gene

ENSMUSG00000040433

Gene Name

zinc finger and BTB domain containing 38

Synonyms

CIBZ, A930014K01Rik, Zenon homolog

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

IGL01895

Quality Score

Status

Chromosome

Chromosomal Location

96682770-96752831 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96688408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 208 (V208I)

Ref Sequence

ENSEMBL: ENSMUSP00000114300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093798] [ENSMUST00000126066] [ENSMUST00000128269] [ENSMUST00000140121] [ENSMUST00000152594]

AlphaFold

Q3LR78

Predicted Effect

probably benign
Transcript: ENSMUST00000093798
AA Change: V208I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000091315
Gene: ENSMUSG00000040433
AA Change: V208I

Domain	Start	End	E-Value	Type
BTB	33	131	5.68e-20	SMART
low complexity region	140	151	N/A	INTRINSIC
ZnF_C2H2	340	362	7.67e-2	SMART
ZnF_C2H2	369	396	7.29e0	SMART
low complexity region	435	446	N/A	INTRINSIC
ZnF_C2H2	458	480	2.2e-2	SMART
ZnF_C2H2	486	508	1.05e1	SMART
ZnF_C2H2	514	537	8.09e-1	SMART
low complexity region	911	935	N/A	INTRINSIC
low complexity region	994	1002	N/A	INTRINSIC
ZnF_C2H2	1013	1035	3.63e-3	SMART
ZnF_C2H2	1041	1063	9.73e-4	SMART
ZnF_C2H2	1069	1091	1.45e-2	SMART
ZnF_C2H2	1097	1119	1.02e1	SMART
ZnF_C2H2	1128	1150	1.67e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126066
AA Change: V208I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000114300
Gene: ENSMUSG00000040433
AA Change: V208I

Domain	Start	End	E-Value	Type
BTB	33	131	5.68e-20	SMART
low complexity region	140	151	N/A	INTRINSIC
ZnF_C2H2	340	362	7.67e-2	SMART
ZnF_C2H2	369	396	7.29e0	SMART
low complexity region	435	446	N/A	INTRINSIC
ZnF_C2H2	458	480	2.2e-2	SMART
ZnF_C2H2	486	508	1.05e1	SMART
ZnF_C2H2	514	537	8.09e-1	SMART
low complexity region	911	926	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128269

SMART Domains

Protein: ENSMUSP00000121871
Gene: ENSMUSG00000040433

Domain	Start	End	E-Value	Type
BTB	33	131	5.68e-20	SMART
low complexity region	140	151	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140121
AA Change: V208I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120040
Gene: ENSMUSG00000040433
AA Change: V208I

Domain	Start	End	E-Value	Type
BTB	33	131	5.68e-20	SMART
low complexity region	140	151	N/A	INTRINSIC
ZnF_C2H2	340	362	7.67e-2	SMART
ZnF_C2H2	369	396	7.29e0	SMART
low complexity region	435	446	N/A	INTRINSIC
ZnF_C2H2	458	480	2.2e-2	SMART
ZnF_C2H2	486	508	1.05e1	SMART
ZnF_C2H2	514	537	8.09e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152594
AA Change: V208I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121753
Gene: ENSMUSG00000040433
AA Change: V208I

Domain	Start	End	E-Value	Type
BTB	33	131	5.68e-20	SMART
low complexity region	140	151	N/A	INTRINSIC
ZnF_C2H2	340	362	7.67e-2	SMART
ZnF_C2H2	369	396	7.29e0	SMART
low complexity region	435	446	N/A	INTRINSIC
ZnF_C2H2	458	480	2.2e-2	SMART
ZnF_C2H2	486	508	1.05e1	SMART
ZnF_C2H2	514	537	8.09e-1	SMART
low complexity region	911	935	N/A	INTRINSIC
low complexity region	994	1002	N/A	INTRINSIC
ZnF_C2H2	1013	1035	3.63e-3	SMART
ZnF_C2H2	1041	1063	9.73e-4	SMART
ZnF_C2H2	1069	1091	1.45e-2	SMART
ZnF_C2H2	1097	1119	1.02e1	SMART
ZnF_C2H2	1128	1150	1.67e-2	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,229,107	V2279E	possibly damaging	Het
Abcc6	A	T	7: 46,029,058	I56N	possibly damaging	Het
Akr1c13	A	T	13: 4,205,373	E321V	possibly damaging	Het
Atp8b3	A	T	10: 80,521,828	V1119D	possibly damaging	Het
Cacna1e	G	T	1: 154,443,900	F1351L	probably damaging	Het
Cadps2	A	G	6: 23,427,275	W585R	probably damaging	Het
Ccdc113	C	T	8: 95,536,458		probably benign	Het
Ccer1	A	T	10: 97,694,050	I192F	unknown	Het
Chd8	T	C	14: 52,199,094	N90S	probably benign	Het
Clca3a1	A	T	3: 144,747,572	C463*	probably null	Het
Cyp2c65	T	A	19: 39,072,232	C179S	possibly damaging	Het
Dennd4b	A	G	3: 90,275,567	Q35R	probably benign	Het
Enpep	T	C	3: 129,270,334	E928G	possibly damaging	Het
Fem1c	T	C	18: 46,505,562	T458A	probably benign	Het
Fezf2	A	T	14: 12,342,498	*456R	probably null	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14085	A	C	2: 122,525,091	Y588S	possibly damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Iqcm	T	G	8: 75,888,560	L423R	probably damaging	Het
Kcnc4	C	A	3: 107,448,218	V305L	probably benign	Het
Kif1a	G	A	1: 93,025,733	T1337I	possibly damaging	Het
Lpxn	A	G	19: 12,833,086	D298G	probably damaging	Het
Lypd8	A	G	11: 58,390,220	T203A	possibly damaging	Het
Mrps28	C	T	3: 8,900,059	V107M	probably damaging	Het
Myo15b	A	G	11: 115,883,498	E586G	possibly damaging	Het
Pdzk1	C	T	3: 96,869,101	A459V	possibly damaging	Het
Rbpj	A	G	5: 53,651,386	D285G	probably damaging	Het
Rimbp3	T	C	16: 17,211,436	L908P	probably damaging	Het
Samd4b	T	C	7: 28,401,909		probably null	Het
Stau2	C	T	1: 16,345,937	G401S	probably damaging	Het
Trpa1	A	T	1: 14,887,643	I697K	possibly damaging	Het
Ttc17	A	C	2: 94,375,146	V285G	possibly damaging	Het
Unc5b	A	G	10: 60,767,085	F845S	probably damaging	Het
Vmn1r19	A	T	6: 57,405,260	Q266L	probably benign	Het
Vmn2r106	T	C	17: 20,278,965	N228S	probably benign	Het
Vps13d	A	G	4: 145,156,266	F919S	possibly damaging	Het
Zfp990	A	T	4: 145,536,857	T142S	probably damaging	Het
Zfp990	C	A	4: 145,536,858	T142N	probably damaging	Het

Other mutations in Zbtb38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Zbtb38	APN	9	96687494	missense	probably damaging	1.00
IGL02513:Zbtb38	APN	9	96687073	missense	probably damaging	1.00
IGL02649:Zbtb38	APN	9	96686619	missense	probably damaging	0.96
IGL02938:Zbtb38	APN	9	96687174	missense	probably benign	0.11
PIT4131001:Zbtb38	UTSW	9	96686316	missense	probably damaging	1.00
R0048:Zbtb38	UTSW	9	96687676	missense	probably damaging	1.00
R0152:Zbtb38	UTSW	9	96686280	missense	probably damaging	1.00
R0158:Zbtb38	UTSW	9	96686940	missense	possibly damaging	0.46
R0519:Zbtb38	UTSW	9	96685773	missense	probably damaging	1.00
R0594:Zbtb38	UTSW	9	96685954	missense	probably damaging	1.00
R1556:Zbtb38	UTSW	9	96686991	missense	probably benign	0.26
R1698:Zbtb38	UTSW	9	96685462	missense	probably benign
R1772:Zbtb38	UTSW	9	96688041	missense	probably damaging	1.00
R1799:Zbtb38	UTSW	9	96688881	missense	probably damaging	1.00
R1837:Zbtb38	UTSW	9	96686995	missense	probably benign
R2446:Zbtb38	UTSW	9	96687646	missense	probably damaging	1.00
R3153:Zbtb38	UTSW	9	96688249	missense	probably benign	0.34
R3950:Zbtb38	UTSW	9	96687546	missense	probably damaging	1.00
R4240:Zbtb38	UTSW	9	96686102	small deletion	probably benign
R4630:Zbtb38	UTSW	9	96688851	missense	probably damaging	1.00
R4666:Zbtb38	UTSW	9	96688383	missense	probably damaging	1.00
R4732:Zbtb38	UTSW	9	96687684	missense	probably damaging	1.00
R4733:Zbtb38	UTSW	9	96687684	missense	probably damaging	1.00
R4824:Zbtb38	UTSW	9	96688201	missense	probably benign	0.06
R5006:Zbtb38	UTSW	9	96685651	missense	probably damaging	1.00
R5109:Zbtb38	UTSW	9	96687009	missense	probably damaging	0.99
R5251:Zbtb38	UTSW	9	96687108	missense	probably benign	0.43
R5396:Zbtb38	UTSW	9	96687643	missense	probably damaging	1.00
R5659:Zbtb38	UTSW	9	96687420	missense	probably damaging	1.00
R6249:Zbtb38	UTSW	9	96685992	missense	probably damaging	0.99
R6294:Zbtb38	UTSW	9	96687229	missense	probably benign	0.05
R6615:Zbtb38	UTSW	9	96686654	nonsense	probably null
R6625:Zbtb38	UTSW	9	96687313	missense	probably damaging	1.00
R6885:Zbtb38	UTSW	9	96686464	missense	probably damaging	1.00
R7304:Zbtb38	UTSW	9	96687427	missense	probably damaging	0.96
R7675:Zbtb38	UTSW	9	96685541	missense	probably benign	0.00
R7823:Zbtb38	UTSW	9	96685976	nonsense	probably null
R7900:Zbtb38	UTSW	9	96688936	missense	probably damaging	1.00
R8077:Zbtb38	UTSW	9	96688100	missense	probably benign
R8432:Zbtb38	UTSW	9	96686238	missense	possibly damaging	0.68
R8802:Zbtb38	UTSW	9	96685570	missense	probably benign	0.13
R8930:Zbtb38	UTSW	9	96686381	missense	probably benign	0.04
R8932:Zbtb38	UTSW	9	96686381	missense	probably benign	0.04
R9008:Zbtb38	UTSW	9	96687047	missense	probably benign
R9347:Zbtb38	UTSW	9	96685596	missense	probably damaging	0.99
R9520:Zbtb38	UTSW	9	96686051	missense	probably damaging	0.99
R9568:Zbtb38	UTSW	9	96688891	missense	probably damaging	1.00
R9680:Zbtb38	UTSW	9	96688344	missense	probably benign	0.03
R9777:Zbtb38	UTSW	9	96688302	missense	possibly damaging	0.49
R9777:Zbtb38	UTSW	9	96688303	missense	probably damaging	0.96
R9790:Zbtb38	UTSW	9	96688647	missense	probably damaging	1.00
R9791:Zbtb38	UTSW	9	96688647	missense	probably damaging	1.00
X0066:Zbtb38	UTSW	9	96687612	missense	probably damaging	1.00

Posted On

2014-05-07