Mutagenetix > Incidental Mutation

Incidental Mutation 'R4824:Zbtb38'

374230

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

042440-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

R4824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96564820-96613728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96570254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 277 (T277S)

Ref Sequence

ENSEMBL: ENSMUSP00000121753 (fasta)

Gene Model

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

AlphaFold

Q3LR78

Predicted Effect

probably benign
Transcript: ENSMUST00000093798
AA Change: T277S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000091315
Gene: ENSMUSG00000040433
AA Change: T277S

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: T277S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114300
Gene: ENSMUSG00000040433
AA Change: T277S

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: T277S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120040
Gene: ENSMUSG00000040433
AA Change: T277S

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: T277S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121753
Gene: ENSMUSG00000040433
AA Change: T277S

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

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (123/126)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,437 (GRCm39)	T209A	probably benign	Het
1700086D15Rik	T	C	11: 65,043,441 (GRCm39)		probably benign	Het
A130010J15Rik	G	A	1: 192,856,965 (GRCm39)	V106I	probably benign	Het
Abca16	C	A	7: 120,074,702 (GRCm39)	N580K	possibly damaging	Het
Actrt2	A	T	4: 154,751,344 (GRCm39)	F264Y	probably damaging	Het
Adh4	G	A	3: 138,134,807 (GRCm39)	S327N	possibly damaging	Het
Alkbh5	T	C	11: 60,444,697 (GRCm39)		probably null	Het
Anapc1	T	A	2: 128,470,610 (GRCm39)	T1507S	possibly damaging	Het
Anapc2	A	G	2: 25,167,764 (GRCm39)	R444G	probably damaging	Het
Apoh	G	T	11: 108,305,087 (GRCm39)	W335L	probably benign	Het
B4galt7	A	T	13: 55,752,162 (GRCm39)	H71L	possibly damaging	Het
Bicd2	A	G	13: 49,532,488 (GRCm39)	E358G	probably damaging	Het
Bmper	T	A	9: 23,134,956 (GRCm39)	V7D	possibly damaging	Het
Brca2	T	C	5: 150,463,200 (GRCm39)	F988S	probably damaging	Het
Brix1	A	G	15: 10,485,828 (GRCm39)	V49A	possibly damaging	Het
Brpf3	T	C	17: 29,025,460 (GRCm39)	S178P	probably benign	Het
Btaf1	A	G	19: 36,958,448 (GRCm39)	Y655C	possibly damaging	Het
C1rl	C	G	6: 124,486,040 (GRCm39)	Y470*	probably null	Het
Cacnb4	A	G	2: 52,565,822 (GRCm39)	V21A	probably benign	Het
Caskin1	C	A	17: 24,720,103 (GRCm39)	P437T	probably benign	Het
Casz1	C	A	4: 149,029,028 (GRCm39)	P1158T	probably damaging	Het
Ccdc141	T	A	2: 76,954,680 (GRCm39)	Q189L	probably damaging	Het
Ccr3	T	C	9: 123,828,809 (GRCm39)	V48A	probably damaging	Het
Cebpd	G	A	16: 15,705,978 (GRCm39)	G264S	probably benign	Het
Cert1	C	T	13: 96,752,995 (GRCm39)	P350S	probably benign	Het
Cfap20dc	A	T	14: 8,665,997 (GRCm38)	M1K	probably null	Het
Chd1	C	A	17: 15,953,386 (GRCm39)	S440R	probably damaging	Het
Clip1	T	A	5: 123,769,086 (GRCm39)	E504D	probably damaging	Het
Cmya5	T	C	13: 93,230,082 (GRCm39)	R1669G	probably benign	Het
Col11a2	T	A	17: 34,269,937 (GRCm39)	F456I	probably damaging	Het
Ctnna2	A	T	6: 76,957,764 (GRCm39)	M130K	probably damaging	Het
Elmo2	A	T	2: 165,133,922 (GRCm39)		probably benign	Het
F11	T	C	8: 45,708,379 (GRCm39)	D27G	probably damaging	Het
Faap100	A	T	11: 120,266,412 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,442,151 (GRCm39)	E1151G	probably damaging	Het
Fbll1	T	A	11: 35,688,652 (GRCm39)	I204F	probably damaging	Het
Gle1	T	A	2: 29,830,215 (GRCm39)	V257D	possibly damaging	Het
Hoxc9	T	A	15: 102,890,225 (GRCm39)	C47*	probably null	Het
Hsd17b6	A	G	10: 127,829,524 (GRCm39)	V226A	probably benign	Het
Hsd17b7	C	T	1: 169,788,764 (GRCm39)	R151Q	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ido2	A	G	8: 25,023,875 (GRCm39)	I321T	probably benign	Het
Irf2bp2	T	C	8: 127,318,172 (GRCm39)	T465A	probably benign	Het
Kdm2a	A	G	19: 4,412,815 (GRCm39)	M34T	probably damaging	Het
Klhl6	C	T	16: 19,775,778 (GRCm39)	R260H	probably damaging	Het
Kntc1	T	A	5: 123,928,196 (GRCm39)	L1231*	probably null	Het
Lca5l	A	C	16: 95,963,229 (GRCm39)	Y412*	probably null	Het
Lipt1	T	C	1: 37,914,513 (GRCm39)	S190P	possibly damaging	Het
Ly6f	T	A	15: 75,143,569 (GRCm39)	V92D	probably damaging	Het
Matn4	T	A	2: 164,235,151 (GRCm39)	M433L	probably benign	Het
Mbtd1	C	A	11: 93,816,528 (GRCm39)	P370T	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,417,922 (GRCm39)	C3623S	probably damaging	Het
Myt1l	C	A	12: 29,899,399 (GRCm39)	H134N	probably benign	Het
Nav2	A	T	7: 49,058,749 (GRCm39)		probably benign	Het
Ndufaf8	T	C	11: 119,989,992 (GRCm39)	C35R	probably damaging	Het
Neb	G	A	2: 52,094,891 (GRCm39)	T5130I	possibly damaging	Het
Nlrp9c	T	C	7: 26,079,989 (GRCm39)	N624S	possibly damaging	Het
Nr0b2	C	A	4: 133,283,334 (GRCm39)	H190Q	probably damaging	Het
Nrg4	A	G	9: 55,156,405 (GRCm39)		probably benign	Het
Nup88	A	T	11: 70,852,450 (GRCm39)	V215E	probably benign	Het
Oas2	T	G	5: 120,876,411 (GRCm39)	T511P	probably benign	Het
Or1e25	A	G	11: 73,493,426 (GRCm39)	T7A	possibly damaging	Het
Or2t6	A	G	14: 14,175,885 (GRCm38)	S66P	probably damaging	Het
Or5d14	A	C	2: 87,880,432 (GRCm39)	F179V	probably damaging	Het
Or5w8	T	C	2: 87,687,621 (GRCm39)	V34A	probably benign	Het
Or8g26	A	G	9: 39,095,501 (GRCm39)	N9S	probably benign	Het
Or9q1	A	C	19: 13,805,718 (GRCm39)	L14R	probably damaging	Het
Pcdhgb2	T	A	18: 37,823,502 (GRCm39)	N164K	probably damaging	Het
Pde4d	C	G	13: 109,253,400 (GRCm39)	P76A	probably benign	Het
Phlda1	T	C	10: 111,343,516 (GRCm39)		probably benign	Het
Plekhh1	A	G	12: 79,101,577 (GRCm39)	T216A	probably benign	Het
Plppr3	T	A	10: 79,701,507 (GRCm39)	E445V	possibly damaging	Het
Prom1	A	G	5: 44,191,732 (GRCm39)	V337A	probably damaging	Het
Prr14l	T	C	5: 33,001,743 (GRCm39)		probably benign	Het
Psmd1	A	G	1: 86,064,820 (GRCm39)	I951V	probably benign	Het
Rab35	T	G	5: 115,781,454 (GRCm39)	I85M	possibly damaging	Het
Rad9a	A	T	19: 4,250,536 (GRCm39)	S93T	probably benign	Het
Ric1	G	A	19: 29,563,242 (GRCm39)	C555Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror2	T	A	13: 53,264,719 (GRCm39)	Q791L	probably benign	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Sdr16c5	C	T	4: 4,016,216 (GRCm39)	W70*	probably null	Het
Senp3	A	G	11: 69,568,821 (GRCm39)	V408A	probably benign	Het
Sh2d4b	C	A	14: 40,562,301 (GRCm39)	W288L	probably benign	Het
Slc38a9	A	T	13: 112,859,832 (GRCm39)	D422V	probably damaging	Het
Slc4a2	T	C	5: 24,645,141 (GRCm39)	F1104L	probably damaging	Het
Slc4a3	A	G	1: 75,527,267 (GRCm39)	K113E	possibly damaging	Het
Spata3	G	A	1: 85,952,048 (GRCm39)		probably null	Het
Spata31d1d	A	T	13: 59,877,055 (GRCm39)	V160E	possibly damaging	Het
Sprr2f	A	G	3: 92,273,203 (GRCm39)	M1V	probably null	Het
Sptbn1	A	G	11: 30,068,295 (GRCm39)	V1733A	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tardbp	A	G	4: 148,702,050 (GRCm39)	I295T	probably benign	Het
Tmem212	A	G	3: 27,939,157 (GRCm39)	S110P	probably damaging	Het
Tnc	G	A	4: 63,935,857 (GRCm39)	Q360*	probably null	Het
Tnrc6c	C	A	11: 117,613,731 (GRCm39)	Q630K	probably damaging	Het
Ttc19	G	A	11: 62,199,922 (GRCm39)	R235H	probably benign	Het
Ube3b	T	A	5: 114,553,787 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,062 (GRCm39)		probably null	Het
Vmn2r92	T	A	17: 18,372,183 (GRCm39)		probably benign	Het
Washc5	A	T	15: 59,205,485 (GRCm39)	Y685*	probably null	Het
Wdr93	T	A	7: 79,399,817 (GRCm39)	Y135*	probably null	Het
Wdr95	T	A	5: 149,518,797 (GRCm39)	I546K	probably damaging	Het
Zfp13	T	C	17: 23,795,797 (GRCm39)	D258G	possibly damaging	Het
Zfp397	T	A	18: 24,093,249 (GRCm39)	S245T	probably benign	Het
Zfp646	T	C	7: 127,482,907 (GRCm39)	Y1695H	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
R4666:Zbtb38	UTSW	9	96,570,436 (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
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'- CTGCAGTTATAAACGAGGGGC -3'
(R):5'- ATGAGGACAGCCAGCCTTTG -3'

Sequencing Primer
(F):5'- TTATAAACGAGGGGCGGGACC -3'
(R):5'- CTTTGCCAGGAGAGAGCCAG -3'

Posted On

2016-03-01