Mutagenetix > Incidental Mutation

Incidental Mutation 'R5396:Zbtb38'

429678

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

044394-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

R5396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96564820-96613728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96569696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 463 (C463R)

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: C463R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091315
Gene: ENSMUSG00000040433
AA Change: C463R

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: C463R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114300
Gene: ENSMUSG00000040433
AA Change: C463R

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 damaging
Transcript: ENSMUST00000140121
AA Change: C463R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120040
Gene: ENSMUSG00000040433
AA Change: C463R

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: C463R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121753
Gene: ENSMUSG00000040433
AA Change: C463R

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: 97.3%
20x: 95.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	C	2: 127,028,873 (GRCm39)	T109A	probably damaging	Het
A430005L14Rik	GCC	G	4: 154,045,410 (GRCm39)		probably null	Het
Actr1a	T	C	19: 46,384,103 (GRCm39)	D5G	possibly damaging	Het
Adra2c	A	G	5: 35,438,217 (GRCm39)	T330A	probably benign	Het
Ahcyl2	C	T	6: 29,859,697 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,984,539 (GRCm39)	V1941A	probably damaging	Het
Akr1b7	G	A	6: 34,389,411 (GRCm39)		probably null	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ank2	A	G	3: 126,746,875 (GRCm39)	V570A	probably damaging	Het
Ano4	T	C	10: 88,948,702 (GRCm39)	E302G	probably damaging	Het
Bop1	A	T	15: 76,339,489 (GRCm39)	H285Q	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Catsperb	A	T	12: 101,560,543 (GRCm39)	I845L	possibly damaging	Het
Ccdc28b	G	T	4: 129,513,238 (GRCm39)	Q184K	probably damaging	Het
Cd101	A	G	3: 100,926,126 (GRCm39)	S198P	probably damaging	Het
Cdc7	A	T	5: 107,117,163 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,884,269 (GRCm39)	D1268G	probably benign	Het
Celsr3	C	T	9: 108,705,781 (GRCm39)	R755W	probably damaging	Het
Chrnb1	T	A	11: 69,684,979 (GRCm39)	N117I	probably damaging	Het
Chst11	C	A	10: 83,027,083 (GRCm39)	P170Q	probably damaging	Het
Clca3b	A	G	3: 144,552,932 (GRCm39)	Y98H	probably damaging	Het
Crnkl1	A	G	2: 145,770,132 (GRCm39)	V237A	possibly damaging	Het
Ctnnbl1	G	A	2: 157,659,752 (GRCm39)		probably null	Het
Dbndd1	C	A	8: 124,236,582 (GRCm39)	R95S	probably damaging	Het
Ddx3y	A	G	Y: 1,265,965 (GRCm39)	V344A	probably damaging	Het
Defb30	A	T	14: 63,273,559 (GRCm39)		probably null	Het
Dennd10	T	C	19: 60,823,274 (GRCm39)	L303P	probably benign	Het
Dnah17	C	T	11: 118,018,108 (GRCm39)	R129Q	probably benign	Het
Dnhd1	A	T	7: 105,362,891 (GRCm39)	M3818L	probably benign	Het
Dusp4	G	T	8: 35,284,458 (GRCm39)	D258Y	probably damaging	Het
E2f1	A	T	2: 154,406,368 (GRCm39)	F103I	probably benign	Het
Elavl2	T	C	4: 91,149,055 (GRCm39)	Y248C	probably damaging	Het
Ephb3	T	C	16: 21,037,855 (GRCm39)	V310A	possibly damaging	Het
Erbin	A	G	13: 103,993,917 (GRCm39)		probably null	Het
Etv4	A	T	11: 101,666,167 (GRCm39)	H120Q	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,608 (GRCm39)	F474L	probably benign	Het
Flot2	T	A	11: 77,940,314 (GRCm39)	C20*	probably null	Het
Fsip2	G	A	2: 82,821,262 (GRCm39)	G5665D	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Glrp1	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	1: 88,431,066 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,427,955 (GRCm39)	L202*	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hnf1b	A	T	11: 83,746,863 (GRCm39)	M160L	probably damaging	Het
Inhbe	T	C	10: 127,186,470 (GRCm39)	T237A	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kmt2c	A	T	5: 25,499,732 (GRCm39)		probably null	Het
Kyat3	A	G	3: 142,440,367 (GRCm39)	K364E	probably benign	Het
Lars1	T	A	18: 42,350,024 (GRCm39)	T927S	probably benign	Het
Mfap1b	A	T	2: 121,304,371 (GRCm39)	M8K	probably benign	Het
Mroh8	G	A	2: 157,070,576 (GRCm39)	P592S	possibly damaging	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1x6	C	T	11: 50,939,297 (GRCm39)	A121V	probably damaging	Het
Or4c110	A	T	2: 88,832,540 (GRCm39)	L31M	probably benign	Het
Or51a24	T	C	7: 103,734,098 (GRCm39)	Y63C	probably benign	Het
Pcdha8	T	A	18: 37,126,787 (GRCm39)	V423E	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pde8a	T	C	7: 80,983,170 (GRCm39)	V791A	probably damaging	Het
Pds5a	A	G	5: 65,795,920 (GRCm39)	S657P	probably benign	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Rad51d	A	G	11: 82,781,196 (GRCm39)	V17A	possibly damaging	Het
Sdc1	A	T	12: 8,841,743 (GRCm39)		probably null	Het
Sdcbp2	T	A	2: 151,429,057 (GRCm39)	I152N	probably damaging	Het
Slc4a4	G	T	5: 89,194,076 (GRCm39)	M141I	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spata6	T	C	4: 111,656,315 (GRCm39)	C320R	probably damaging	Het
Spata6l	T	C	19: 28,905,089 (GRCm39)	H325R	possibly damaging	Het
Ssu2	T	A	6: 112,357,957 (GRCm39)	T129S	probably damaging	Het
Stat5a	T	A	11: 100,771,409 (GRCm39)	W631R	probably damaging	Het
Sult1c2	T	A	17: 54,143,939 (GRCm39)	N122I	possibly damaging	Het
Synpo2	G	A	3: 122,911,331 (GRCm39)	Q105*	probably null	Het
Tert	G	A	13: 73,787,362 (GRCm39)	V783I	probably damaging	Het
Ticam1	G	T	17: 56,578,117 (GRCm39)	T326K	probably benign	Het
Tmem63b	T	C	17: 45,980,888 (GRCm39)	M269V	possibly damaging	Het
Tmem86a	T	A	7: 46,702,794 (GRCm39)	V73E	possibly damaging	Het
Trpv4	G	A	5: 114,761,675 (GRCm39)	R818C	possibly damaging	Het
Tstd2	A	G	4: 46,135,542 (GRCm39)	S4P	probably benign	Het
Ttn	A	T	2: 76,644,715 (GRCm39)	V4686E	probably damaging	Het
Ubash3b	A	G	9: 40,954,769 (GRCm39)		probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Usp33	A	G	3: 152,089,824 (GRCm39)	E780G	possibly damaging	Het
Vapb	T	A	2: 173,613,336 (GRCm39)	Y78*	probably null	Het
Vps13b	G	A	15: 35,887,094 (GRCm39)	R3227Q	probably damaging	Het
Vps33a	A	T	5: 123,696,693 (GRCm39)	I320N	probably damaging	Het
Wnt5a	T	C	14: 28,244,727 (GRCm39)	C305R	probably damaging	Het
Zc3h12d	G	A	10: 7,742,090 (GRCm39)	C263Y	probably damaging	Het
Zfp971	G	A	2: 177,675,526 (GRCm39)	R375Q	probably damaging	Het
Znrf1	T	A	8: 112,345,826 (GRCm39)		probably null	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
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
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'- ATGGCATGAAAGGACTTCTGATG -3'
(R):5'- CACCGTTCTTGGAAAACTACCC -3'

Sequencing Primer
(F):5'- AAAGTTTCAAGACAGAAAATGCACTG -3'
(R):5'- TACCCCACTATTGGTCAAGATGG -3'

Posted On

2016-09-06