Mutagenetix > Incidental Mutation

Incidental Mutation 'R1837:Zbtb38'

205406

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

039864-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

R1837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96564820-96613728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96569048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 679 (T679A)

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: T679A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091315
Gene: ENSMUSG00000040433
AA Change: T679A

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: T679A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114300
Gene: ENSMUSG00000040433
AA Change: T679A

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

SMART Domains

Protein: ENSMUSP00000120040
Gene: ENSMUSG00000040433

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: T679A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121753
Gene: ENSMUSG00000040433
AA Change: T679A

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

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,394,962 (GRCm39)	G305W	probably damaging	Het
Actr3b	A	T	5: 26,030,157 (GRCm39)	T74S	probably benign	Het
Add2	A	G	6: 86,095,540 (GRCm39)	E652G	probably damaging	Het
Alg9	T	A	9: 50,717,615 (GRCm39)	V83D	probably damaging	Het
Atp13a2	T	A	4: 140,721,643 (GRCm39)	Y244*	probably null	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Bcr	A	G	10: 75,003,932 (GRCm39)		probably benign	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Bzw1	A	G	1: 58,439,277 (GRCm39)	K67E	probably damaging	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Cdc73	T	A	1: 143,543,395 (GRCm39)	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813 (GRCm39)	T31A	probably damaging	Het
Cfap58	G	A	19: 48,017,578 (GRCm39)	E813K	probably damaging	Het
Clstn2	C	A	9: 97,465,593 (GRCm39)	A133S	probably benign	Het
Col14a1	A	T	15: 55,245,891 (GRCm39)	D465V	unknown	Het
Col2a1	C	T	15: 97,894,522 (GRCm39)		probably benign	Het
Dab2	A	G	15: 6,365,957 (GRCm39)		probably benign	Het
Eme1	T	C	11: 94,536,787 (GRCm39)	D464G	probably benign	Het
Eml6	T	C	11: 29,699,802 (GRCm39)		probably null	Het
Ern1	C	A	11: 106,349,783 (GRCm39)	L44F	probably damaging	Het
Fam111a	T	A	19: 12,564,816 (GRCm39)	S188R	probably benign	Het
Fam151b	A	T	13: 92,610,639 (GRCm39)		probably benign	Het
Fmo6	T	C	1: 162,750,379 (GRCm39)	N226D	probably benign	Het
Ggt1	A	G	10: 75,415,128 (GRCm39)	D214G	probably benign	Het
Gm14226	A	G	2: 154,866,930 (GRCm39)	I296V	probably benign	Het
Gm9915	A	T	1: 42,269,847 (GRCm39)		noncoding transcript	Het
Heatr5b	T	C	17: 79,128,180 (GRCm39)	D485G	possibly damaging	Het
Helz2	A	T	2: 180,871,082 (GRCm39)	I2785N	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Hydin	C	A	8: 111,296,257 (GRCm39)	H3595Q	probably benign	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krt7	A	G	15: 101,317,463 (GRCm39)	D252G	probably benign	Het
Lad1	C	A	1: 135,757,444 (GRCm39)	D394E	probably benign	Het
Lhx8	A	T	3: 154,033,692 (GRCm39)	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,305,037 (GRCm39)	T280M	probably damaging	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Med1	G	T	11: 98,060,238 (GRCm39)	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409 (GRCm39)	F171I	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mtrf1	A	G	14: 79,639,273 (GRCm39)	E135G	possibly damaging	Het
Muc5ac	T	A	7: 141,360,823 (GRCm39)	M1378K	probably benign	Het
Myo3a	A	T	2: 22,467,604 (GRCm39)	Q286L	possibly damaging	Het
Ndor1	C	T	2: 25,138,408 (GRCm39)	G391R	probably damaging	Het
Nefl	C	T	14: 68,324,075 (GRCm39)	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,439,742 (GRCm39)	V440I	probably benign	Het
Notch3	A	T	17: 32,343,296 (GRCm39)	L1959Q	probably damaging	Het
Noto	A	G	6: 85,401,159 (GRCm39)	T63A	probably benign	Het
Oc90	G	A	15: 65,761,529 (GRCm39)	T163M	probably damaging	Het
Or1l4	T	A	2: 37,092,114 (GRCm39)	M287K	probably benign	Het
Or4c114	A	T	2: 88,905,176 (GRCm39)	Y86*	probably null	Het
Or5an10	A	G	19: 12,275,740 (GRCm39)	V252A	probably damaging	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Phlda1	A	G	10: 111,343,092 (GRCm39)	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,699,885 (GRCm39)	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,177,531 (GRCm39)	E1364G	probably benign	Het
Rabep1	T	A	11: 70,795,484 (GRCm39)	W237R	probably damaging	Het
Rai1	A	T	11: 60,080,224 (GRCm39)	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,627,438 (GRCm39)	I1027M	probably damaging	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Rpap1	A	C	2: 119,600,366 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,978,879 (GRCm39)	C471S	probably benign	Het
Slc16a14	A	G	1: 84,890,120 (GRCm39)	V395A	probably benign	Het
Slc45a1	C	T	4: 150,722,916 (GRCm39)	G323S	probably benign	Het
Syne2	A	T	12: 76,014,434 (GRCm39)	E3208D	probably damaging	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Ticam1	T	C	17: 56,577,799 (GRCm39)	E432G	possibly damaging	Het
Tmem192	C	A	8: 65,416,992 (GRCm39)		probably benign	Het
Trub1	T	C	19: 57,441,461 (GRCm39)	V28A	probably benign	Het
Ttc21b	A	T	2: 66,028,106 (GRCm39)	L1121H	probably benign	Het
Ttc38	A	G	15: 85,735,764 (GRCm39)	D290G	probably damaging	Het
Ulk1	C	T	5: 110,937,247 (GRCm39)	G683D	probably damaging	Het
Vmn1r122	A	T	7: 20,867,291 (GRCm39)	F255I	probably benign	Het
Vmn2r68	T	A	7: 84,882,886 (GRCm39)	I289F	probably damaging	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Wdr48	T	G	9: 119,734,482 (GRCm39)	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,350 (GRCm39)	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,076,107 (GRCm39)	V486A	possibly damaging	Het
Zfp292	A	G	4: 34,810,264 (GRCm39)	S927P	probably damaging	Het
Zfp324	C	T	7: 12,704,156 (GRCm39)	T115I	probably benign	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp945	A	T	17: 23,070,247 (GRCm39)	C551S	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly damaging	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
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
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'- GCTTGCTGTCCTTGATCAGG -3'
(R):5'- ATGGCAGAAACACGTTGCC -3'

Sequencing Primer
(F):5'- TTGATCAGGGACGGGCTGAC -3'
(R):5'- GAAACACGTTGCCCAGCAG -3'

Posted On

2014-06-23