Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Zbtb38'

351940

Institutional Source

Beutler Lab

Gene Symbol

Zbtb38

Ensembl Gene

ENSMUSG00000040433

Gene Name

zinc finger and BTB domain containing 38

Synonyms

A930014K01Rik, Zenon homolog, CIBZ

MMRRC Submission

041924-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96564820-96613728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96570436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 216 (R216H)

Ref Sequence

ENSEMBL: ENSMUSP00000121753 (fasta)

Gene Model

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

AlphaFold

Q3LR78

Predicted Effect

probably damaging
Transcript: ENSMUST00000093798
AA Change: R216H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091315
Gene: ENSMUSG00000040433
AA Change: R216H

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 damaging
Transcript: ENSMUST00000126066
AA Change: R216H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114300
Gene: ENSMUSG00000040433
AA Change: R216H

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: R216H

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120040
Gene: ENSMUSG00000040433
AA Change: R216H

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 damaging
Transcript: ENSMUST00000152594
AA Change: R216H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121753
Gene: ENSMUSG00000040433
AA Change: R216H

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 37,289,794 (GRCm39)	S12L	probably benign	Het
Abce1	A	G	8: 80,414,115 (GRCm39)	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,578 (GRCm39)	N1278K	probably benign	Het
Adipor1	T	A	1: 134,352,643 (GRCm39)	I138N	probably damaging	Het
Aox1	C	T	1: 58,343,756 (GRCm39)	Q480*	probably null	Het
Arhgef38	C	T	3: 132,846,533 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
Bltp3a	G	T	17: 28,112,477 (GRCm39)	W1222L	possibly damaging	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Cdh8	T	C	8: 99,751,534 (GRCm39)	T728A	possibly damaging	Het
Celsr1	A	G	15: 85,914,695 (GRCm39)	S1093P	probably damaging	Het
Cep135	C	A	5: 76,764,701 (GRCm39)	P560T	probably benign	Het
Chfr	C	T	5: 110,292,733 (GRCm39)	Q167*	probably null	Het
Chrna4	A	G	2: 180,679,286 (GRCm39)	S54P	probably damaging	Het
Cntln	A	G	4: 84,889,453 (GRCm39)	N312S	probably benign	Het
Cntn6	A	G	6: 104,705,245 (GRCm39)	E154G	probably benign	Het
Col6a6	T	A	9: 105,644,541 (GRCm39)	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,949,466 (GRCm39)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Cryba2	C	T	1: 74,929,207 (GRCm39)	D179N	probably benign	Het
Daglb	A	T	5: 143,489,104 (GRCm39)	R654W	probably damaging	Het
Dennd3	A	G	15: 73,442,709 (GRCm39)	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,582,390 (GRCm39)	E405G	probably damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Dph1	A	G	11: 75,072,156 (GRCm39)	S238P	probably damaging	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Ebf1	A	G	11: 44,882,384 (GRCm39)	N447D	probably damaging	Het
Epg5	A	G	18: 78,056,079 (GRCm39)	N1751S	probably benign	Het
Exoc6	A	G	19: 37,558,953 (GRCm39)	D75G	probably damaging	Het
Extl2	T	A	3: 115,817,856 (GRCm39)	I70N	probably damaging	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,736,830 (GRCm39)		probably null	Het
Foxa3	G	T	7: 18,748,297 (GRCm39)	C275*	probably null	Het
Foxred1	C	T	9: 35,122,151 (GRCm39)		probably benign	Het
Galr2	A	G	11: 116,174,455 (GRCm39)	T362A	probably benign	Het
Garem2	C	A	5: 30,319,665 (GRCm39)	R376S	probably damaging	Het
Garre1	T	C	7: 33,984,198 (GRCm39)	M142V	probably damaging	Het
Gatc	T	A	5: 115,473,606 (GRCm39)	N111I	probably benign	Het
Gjb4	C	A	4: 127,245,571 (GRCm39)	K123N	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gtdc1	T	C	2: 44,481,937 (GRCm39)	N301S	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,329,632 (GRCm39)	I96V	probably benign	Het
Homer1	T	A	13: 93,538,667 (GRCm39)	I170N	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Hoxb9	A	G	11: 96,165,657 (GRCm39)	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,489,573 (GRCm39)	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Lsm11	A	G	11: 45,824,640 (GRCm39)	S296P	probably damaging	Het
Macrod2	T	C	2: 142,059,519 (GRCm39)	L265P	probably damaging	Het
Mcu	G	A	10: 59,292,521 (GRCm39)	L53F	probably damaging	Het
Mpv17l2	A	G	8: 71,213,061 (GRCm39)	V104A	possibly damaging	Het
Myh10	G	A	11: 68,692,556 (GRCm39)		probably null	Het
Nemf	T	C	12: 69,359,054 (GRCm39)	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,407,153 (GRCm39)	S1395N	probably damaging	Het
Niban3	G	T	8: 72,056,469 (GRCm39)	E390*	probably null	Het
Nlrp2	T	A	7: 5,322,188 (GRCm39)	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,036,205 (GRCm39)	L686*	probably null	Het
Nudt12os	T	A	17: 59,331,546 (GRCm39)		noncoding transcript	Het
Or10ag57	T	A	2: 87,218,220 (GRCm39)	I57K	probably damaging	Het
Or10j5	G	A	1: 172,785,157 (GRCm39)	S265N	probably benign	Het
Or2h1b	A	T	17: 37,462,270 (GRCm39)	S44T	possibly damaging	Het
Or5ac23	A	G	16: 59,149,573 (GRCm39)	Y100H	possibly damaging	Het
Or5k16	T	C	16: 58,736,947 (GRCm39)	D19G	probably benign	Het
Or8g27	T	A	9: 39,129,142 (GRCm39)	M163K	probably damaging	Het
Pde7a	T	C	3: 19,314,420 (GRCm39)	T59A	probably damaging	Het
Pde7b	A	C	10: 20,314,496 (GRCm39)	D203E	probably damaging	Het
Phkg2	T	A	7: 127,177,156 (GRCm39)	I94N	possibly damaging	Het
Pik3r2	G	A	8: 71,221,503 (GRCm39)	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,125,540 (GRCm39)	H68L	possibly damaging	Het
Prcd	A	G	11: 116,558,990 (GRCm39)		probably benign	Het
Prune2	C	T	19: 17,097,552 (GRCm39)	R1019*	probably null	Het
Psap	A	G	10: 60,136,324 (GRCm39)	D486G	probably benign	Het
Purb	A	T	11: 6,425,615 (GRCm39)	V91E	probably damaging	Het
Recql	C	A	6: 142,322,567 (GRCm39)	V112F	probably damaging	Het
Rptor	A	T	11: 119,634,708 (GRCm39)	I175F	probably damaging	Het
Sbf1	C	T	15: 89,179,449 (GRCm39)	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,812,957 (GRCm39)	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,686,700 (GRCm39)	N22K	possibly damaging	Het
Sorl1	A	T	9: 41,915,347 (GRCm39)	M1294K	probably damaging	Het
Sp6	C	A	11: 96,912,701 (GRCm39)	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408 (GRCm39)		probably benign	Het
Spmip4	G	T	6: 50,572,808 (GRCm39)	T35K	possibly damaging	Het
Spon1	T	A	7: 113,628,204 (GRCm39)	M320K	probably benign	Het
Tceanc2	A	T	4: 107,022,757 (GRCm39)	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,674,270 (GRCm39)		probably null	Het
Tmprss11d	T	C	5: 86,457,260 (GRCm39)	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,574,953 (GRCm39)	V65D	probably damaging	Het
Trpm1	G	T	7: 63,852,782 (GRCm39)	L65F	probably damaging	Het
Tyk2	C	T	9: 21,025,503 (GRCm39)	A741T	probably damaging	Het
Ube2v1	T	A	2: 167,452,297 (GRCm39)	Y102F	probably damaging	Het
Uckl1	A	T	2: 181,216,661 (GRCm39)	S95T	possibly damaging	Het
Vcan	C	A	13: 89,828,053 (GRCm39)	W2171L	probably damaging	Het
Vinac1	T	C	2: 128,880,150 (GRCm39)	H592R	probably benign	Het
Vmn1r64	T	C	7: 5,887,357 (GRCm39)	N62S	probably damaging	Het
Vmn2r67	T	C	7: 84,799,831 (GRCm39)	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,690 (GRCm39)	S1352G	probably benign	Het

Other mutations in Zbtb38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Zbtb38	APN	9	96,569,547 (GRCm39)	missense	probably damaging	1.00
IGL01895:Zbtb38	APN	9	96,570,461 (GRCm39)	missense	probably benign	0.00
IGL02513:Zbtb38	APN	9	96,569,126 (GRCm39)	missense	probably damaging	1.00
IGL02649:Zbtb38	APN	9	96,568,672 (GRCm39)	missense	probably damaging	0.96
IGL02938:Zbtb38	APN	9	96,569,227 (GRCm39)	missense	probably benign	0.11
PIT4131001:Zbtb38	UTSW	9	96,568,369 (GRCm39)	missense	probably damaging	1.00
R0048:Zbtb38	UTSW	9	96,569,729 (GRCm39)	missense	probably damaging	1.00
R0152:Zbtb38	UTSW	9	96,568,333 (GRCm39)	missense	probably damaging	1.00
R0158:Zbtb38	UTSW	9	96,568,993 (GRCm39)	missense	possibly damaging	0.46
R0519:Zbtb38	UTSW	9	96,567,826 (GRCm39)	missense	probably damaging	1.00
R0594:Zbtb38	UTSW	9	96,568,007 (GRCm39)	missense	probably damaging	1.00
R1556:Zbtb38	UTSW	9	96,569,044 (GRCm39)	missense	probably benign	0.26
R1698:Zbtb38	UTSW	9	96,567,515 (GRCm39)	missense	probably benign
R1772:Zbtb38	UTSW	9	96,570,094 (GRCm39)	missense	probably damaging	1.00
R1799:Zbtb38	UTSW	9	96,570,934 (GRCm39)	missense	probably damaging	1.00
R1837:Zbtb38	UTSW	9	96,569,048 (GRCm39)	missense	probably benign
R2446:Zbtb38	UTSW	9	96,569,699 (GRCm39)	missense	probably damaging	1.00
R3153:Zbtb38	UTSW	9	96,570,302 (GRCm39)	missense	probably benign	0.34
R3950:Zbtb38	UTSW	9	96,569,599 (GRCm39)	missense	probably damaging	1.00
R4240:Zbtb38	UTSW	9	96,568,155 (GRCm39)	small deletion	probably benign
R4630:Zbtb38	UTSW	9	96,570,904 (GRCm39)	missense	probably damaging	1.00
R4732:Zbtb38	UTSW	9	96,569,737 (GRCm39)	missense	probably damaging	1.00
R4733:Zbtb38	UTSW	9	96,569,737 (GRCm39)	missense	probably damaging	1.00
R4824:Zbtb38	UTSW	9	96,570,254 (GRCm39)	missense	probably benign	0.06
R5006:Zbtb38	UTSW	9	96,567,704 (GRCm39)	missense	probably damaging	1.00
R5109:Zbtb38	UTSW	9	96,569,062 (GRCm39)	missense	probably damaging	0.99
R5251:Zbtb38	UTSW	9	96,569,161 (GRCm39)	missense	probably benign	0.43
R5396:Zbtb38	UTSW	9	96,569,696 (GRCm39)	missense	probably damaging	1.00
R5659:Zbtb38	UTSW	9	96,569,473 (GRCm39)	missense	probably damaging	1.00
R6249:Zbtb38	UTSW	9	96,568,045 (GRCm39)	missense	probably damaging	0.99
R6294:Zbtb38	UTSW	9	96,569,282 (GRCm39)	missense	probably benign	0.05
R6615:Zbtb38	UTSW	9	96,568,707 (GRCm39)	nonsense	probably null
R6625:Zbtb38	UTSW	9	96,569,366 (GRCm39)	missense	probably damaging	1.00
R6885:Zbtb38	UTSW	9	96,568,517 (GRCm39)	missense	probably damaging	1.00
R7304:Zbtb38	UTSW	9	96,569,480 (GRCm39)	missense	probably damaging	0.96
R7675:Zbtb38	UTSW	9	96,567,594 (GRCm39)	missense	probably benign	0.00
R7823:Zbtb38	UTSW	9	96,568,029 (GRCm39)	nonsense	probably null
R7900:Zbtb38	UTSW	9	96,570,989 (GRCm39)	missense	probably damaging	1.00
R8077:Zbtb38	UTSW	9	96,570,153 (GRCm39)	missense	probably benign
R8432:Zbtb38	UTSW	9	96,568,291 (GRCm39)	missense	possibly damaging	0.68
R8802:Zbtb38	UTSW	9	96,567,623 (GRCm39)	missense	probably benign	0.13
R8930:Zbtb38	UTSW	9	96,568,434 (GRCm39)	missense	probably benign	0.04
R8932:Zbtb38	UTSW	9	96,568,434 (GRCm39)	missense	probably benign	0.04
R9008:Zbtb38	UTSW	9	96,569,100 (GRCm39)	missense	probably benign
R9347:Zbtb38	UTSW	9	96,567,649 (GRCm39)	missense	probably damaging	0.99
R9520:Zbtb38	UTSW	9	96,568,104 (GRCm39)	missense	probably damaging	0.99
R9568:Zbtb38	UTSW	9	96,570,944 (GRCm39)	missense	probably damaging	1.00
R9680:Zbtb38	UTSW	9	96,570,397 (GRCm39)	missense	probably benign	0.03
R9777:Zbtb38	UTSW	9	96,570,356 (GRCm39)	missense	probably damaging	0.96
R9777:Zbtb38	UTSW	9	96,570,355 (GRCm39)	missense	possibly damaging	0.49
R9790:Zbtb38	UTSW	9	96,570,700 (GRCm39)	missense	probably damaging	1.00
R9791:Zbtb38	UTSW	9	96,570,700 (GRCm39)	missense	probably damaging	1.00
X0066:Zbtb38	UTSW	9	96,569,665 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTCTGGGCAGGTTACTAGAG -3'
(R):5'- CTGTCACTAATGGGCCAAGG -3'

Sequencing Primer
(F):5'- ACTAGAGAGAGTGGCATATTTTCTG -3'
(R):5'- TGTCACTAATGGGCCAAGGATCAC -3'

Posted On

2015-10-08