Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02588:Zbtb45'

299627

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb45

Ensembl Gene

ENSMUSG00000049600

Gene Name

zinc finger and BTB domain containing 45

Synonyms

Zfp499, LOC232879

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

IGL02588

Quality Score

Status

Chromosome

Chromosomal Location

12737825-12743961 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 12740204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 470 (C470*)

Ref Sequence

ENSEMBL: ENSMUSP00000147298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051390] [ENSMUST00000172240] [ENSMUST00000209997] [ENSMUST00000210108] [ENSMUST00000210282]

AlphaFold

Q52KG4

Predicted Effect

probably null
Transcript: ENSMUST00000051390
AA Change: C470*

SMART Domains

Protein: ENSMUSP00000056086
Gene: ENSMUSG00000049600
AA Change: C470*

Domain	Start	End	E-Value	Type
BTB	33	126	6.43e-19	SMART
low complexity region	131	162	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
low complexity region	202	234	N/A	INTRINSIC
low complexity region	340	362	N/A	INTRINSIC
low complexity region	380	393	N/A	INTRINSIC
ZnF_C2H2	412	434	1.12e-3	SMART
ZnF_C2H2	440	462	2.71e-2	SMART
ZnF_C2H2	468	490	1.84e-4	SMART
ZnF_C2H2	495	517	2.71e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000172240
AA Change: C470*

SMART Domains

Protein: ENSMUSP00000130439
Gene: ENSMUSG00000049600
AA Change: C470*

Domain	Start	End	E-Value	Type
BTB	33	126	6.43e-19	SMART
low complexity region	131	162	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
low complexity region	202	234	N/A	INTRINSIC
low complexity region	340	362	N/A	INTRINSIC
low complexity region	380	393	N/A	INTRINSIC
ZnF_C2H2	412	434	1.12e-3	SMART
ZnF_C2H2	440	462	2.71e-2	SMART
ZnF_C2H2	468	490	1.84e-4	SMART
ZnF_C2H2	495	517	2.71e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209577

Predicted Effect

probably null
Transcript: ENSMUST00000209997

Predicted Effect

probably null
Transcript: ENSMUST00000210108

Predicted Effect

probably null
Transcript: ENSMUST00000210282
AA Change: C470*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 52,933,282 (GRCm39)	W258*	probably null	Het
Ankmy2	T	C	12: 36,226,685 (GRCm39)		probably benign	Het
Arhgap26	G	T	18: 38,734,670 (GRCm39)		probably benign	Het
Aspscr1	A	G	11: 120,568,357 (GRCm39)	D60G	possibly damaging	Het
Cdh15	C	A	8: 123,583,291 (GRCm39)	Y31*	probably null	Het
Cnih3	A	G	1: 181,237,269 (GRCm39)	R76G	probably benign	Het
Cplx1	C	A	5: 108,673,289 (GRCm39)	R44L	possibly damaging	Het
Dhx57	T	A	17: 80,576,300 (GRCm39)	I597F	probably damaging	Het
Dnah17	G	T	11: 117,916,479 (GRCm39)	F4231L	possibly damaging	Het
Dst	T	G	1: 34,156,565 (GRCm39)	L173R	probably damaging	Het
Fezf2	A	T	14: 12,343,687 (GRCm38)	Y353N	probably damaging	Het
Ghrhr	T	A	6: 55,360,395 (GRCm39)	L247Q	probably damaging	Het
Gm10912	C	T	2: 103,897,197 (GRCm39)		probably benign	Het
Gpcpd1	A	T	2: 132,376,673 (GRCm39)	L541H	probably damaging	Het
Gpld1	C	T	13: 25,127,682 (GRCm39)	T28I	probably damaging	Het
Lmf2	A	T	15: 89,239,609 (GRCm39)		probably null	Het
Lratd2	T	C	15: 60,694,999 (GRCm39)	D249G	probably damaging	Het
Mex3c	A	G	18: 73,723,116 (GRCm39)	N403S	probably damaging	Het
Nlrp1b	A	T	11: 71,073,105 (GRCm39)	L246*	probably null	Het
Nlrp2	A	T	7: 5,330,551 (GRCm39)	L615*	probably null	Het
Nlrp4c	A	T	7: 6,087,647 (GRCm39)	D760V	probably benign	Het
Nlrp4g	T	C	9: 124,348,843 (GRCm38)		noncoding transcript	Het
Nr2f1	C	A	13: 78,343,275 (GRCm39)		probably benign	Het
Nuggc	T	A	14: 65,855,226 (GRCm39)		probably benign	Het
Or4c122	T	C	2: 89,080,042 (GRCm39)		probably benign	Het
Or52d1	C	T	7: 103,756,260 (GRCm39)	T258I	possibly damaging	Het
Papolg	T	A	11: 23,840,252 (GRCm39)	I75F	probably damaging	Het
Pcdhgc5	A	G	18: 37,955,003 (GRCm39)	Y759C	probably damaging	Het
Pdp2	A	G	8: 105,321,536 (GRCm39)	K462E	possibly damaging	Het
Plod1	A	T	4: 147,997,747 (GRCm39)	L654*	probably null	Het
Ppp4r3b	G	T	11: 29,148,853 (GRCm39)	G25*	probably null	Het
Ptch1	T	C	13: 63,659,732 (GRCm39)	D1307G	probably benign	Het
Ranbp17	A	G	11: 33,167,361 (GRCm39)	V1034A	probably benign	Het
Rbl2	T	A	8: 91,813,712 (GRCm39)	L319Q	probably damaging	Het
Retnlg	A	G	16: 48,693,255 (GRCm39)	T11A	probably benign	Het
Rfc3	A	T	5: 151,566,381 (GRCm39)	F356Y	possibly damaging	Het
Rnf213	G	T	11: 119,307,362 (GRCm39)	C674F	probably benign	Het
Shcbp1l	A	G	1: 153,304,411 (GRCm39)	K157E	probably benign	Het
Slc22a17	A	G	14: 55,145,451 (GRCm39)	C233R	probably damaging	Het
Slc38a9	A	G	13: 112,834,511 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
St14	C	A	9: 31,001,329 (GRCm39)		probably benign	Het
Sympk	G	A	7: 18,776,550 (GRCm39)	V481M	probably benign	Het
Timeless	T	A	10: 128,079,203 (GRCm39)	L350Q	probably damaging	Het
Tnfrsf1a	A	G	6: 125,337,729 (GRCm39)	I229V	probably benign	Het
Ugt3a1	A	T	15: 9,361,542 (GRCm39)	H106L	probably benign	Het

Other mutations in Zbtb45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01958:Zbtb45	APN	7	12,740,203 (GRCm39)	missense	probably benign	0.23
R0268:Zbtb45	UTSW	7	12,742,254 (GRCm39)	start codon destroyed	probably null	0.60
R0539:Zbtb45	UTSW	7	12,740,260 (GRCm39)	missense	probably damaging	1.00
R4908:Zbtb45	UTSW	7	12,742,037 (GRCm39)	missense	probably damaging	1.00
R5875:Zbtb45	UTSW	7	12,742,237 (GRCm39)	missense	possibly damaging	0.96
R7137:Zbtb45	UTSW	7	12,741,083 (GRCm39)	missense	probably benign
R7516:Zbtb45	UTSW	7	12,740,269 (GRCm39)	missense	probably damaging	1.00
R7612:Zbtb45	UTSW	7	12,741,326 (GRCm39)	missense	possibly damaging	0.62
R9520:Zbtb45	UTSW	7	12,742,012 (GRCm39)	missense	probably damaging	0.99
Z1177:Zbtb45	UTSW	7	12,742,028 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16