Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Zbtb45'

181464

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: 0.259) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

12737825-12743961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12740203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 471 (A471S)

Ref Sequence

ENSEMBL: ENSMUSP00000147298 (fasta)

Gene Model

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

AlphaFold

Q52KG4

Predicted Effect

probably benign
Transcript: ENSMUST00000051390
AA Change: A471S

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056086
Gene: ENSMUSG00000049600
AA Change: A471S

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 benign
Transcript: ENSMUST00000172240
AA Change: A471S

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130439
Gene: ENSMUSG00000049600
AA Change: A471S

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 benign
Transcript: ENSMUST00000209997

Predicted Effect

probably benign
Transcript: ENSMUST00000210108

Predicted Effect

probably benign
Transcript: ENSMUST00000210282
AA Change: A471S

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,629,659 (GRCm39)	I29T	probably damaging	Het
Agps	G	A	2: 75,740,045 (GRCm39)		probably null	Het
Agxt2	A	G	15: 10,393,794 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,992,273 (GRCm39)	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,852,853 (GRCm39)	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,806,125 (GRCm39)	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904 (GRCm39)	E674G	possibly damaging	Het
Atat1	T	A	17: 36,219,735 (GRCm39)		probably benign	Het
Ccar1	G	A	10: 62,626,714 (GRCm39)	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,321,001 (GRCm39)	D14G	probably damaging	Het
Cdh15	T	C	8: 123,586,089 (GRCm39)	F156S	probably damaging	Het
Dctn1	A	G	6: 83,168,326 (GRCm39)	T525A	possibly damaging	Het
Dnah8	T	G	17: 31,074,869 (GRCm39)		probably benign	Het
Dnajc10	T	A	2: 80,151,648 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,300,489 (GRCm39)	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,954 (GRCm39)	T149I	probably damaging	Het
Fgd6	A	G	10: 93,974,170 (GRCm39)	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,766 (GRCm39)		noncoding transcript	Het
Gnai1	A	G	5: 18,478,568 (GRCm39)	F199S	probably damaging	Het
Grb7	T	A	11: 98,345,480 (GRCm39)	V480D	probably damaging	Het
Hdc	A	G	2: 126,436,452 (GRCm39)	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,479,622 (GRCm39)	N4614S	probably benign	Het
Il20ra	A	G	10: 19,634,791 (GRCm39)	D344G	probably benign	Het
Ints1	C	T	5: 139,745,843 (GRCm39)	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,465,562 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,236,285 (GRCm39)	L339P	probably damaging	Het
Klhl22	A	G	16: 17,594,326 (GRCm39)	I152V	probably benign	Het
Krtap5-2	C	A	7: 141,729,459 (GRCm39)	G74*	probably null	Het
Lrrc59	C	A	11: 94,529,354 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,710,873 (GRCm39)	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,646,495 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,463,053 (GRCm39)		probably benign	Het
Myrf	A	G	19: 10,187,742 (GRCm39)		probably benign	Het
Nek11	T	C	9: 105,177,502 (GRCm39)	T250A	probably benign	Het
Nek5	A	T	8: 22,586,842 (GRCm39)	V323E	probably benign	Het
Nfasc	A	T	1: 132,536,176 (GRCm39)	C586*	probably null	Het
Nup210l	T	A	3: 90,111,231 (GRCm39)	L1711Q	possibly damaging	Het
Parp8	T	G	13: 117,013,108 (GRCm39)	K644Q	probably benign	Het
Pcnt	G	T	10: 76,269,513 (GRCm39)	Q252K	probably damaging	Het
Pianp	A	G	6: 124,977,646 (GRCm39)	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,799,298 (GRCm39)	V2839A	probably damaging	Het
Poli	C	T	18: 70,659,657 (GRCm39)	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,890,353 (GRCm39)	D447G	probably benign	Het
Rapgef5	A	G	12: 117,694,386 (GRCm39)	I637V	probably benign	Het
Rasip1	A	T	7: 45,286,188 (GRCm39)	R804*	probably null	Het
Relt	A	G	7: 100,500,350 (GRCm39)	V113A	probably benign	Het
Rnf215	G	T	11: 4,090,317 (GRCm39)	C345F	probably damaging	Het
Scart2	T	C	7: 139,854,040 (GRCm39)	C348R	probably damaging	Het
Scn2a	A	G	2: 65,532,173 (GRCm39)	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,307,316 (GRCm39)	V183M	probably damaging	Het
Snapc4	T	C	2: 26,256,452 (GRCm39)		probably benign	Het
Sparcl1	A	T	5: 104,240,406 (GRCm39)	D339E	probably benign	Het
Tg	T	C	15: 66,631,335 (GRCm39)	F535L	probably benign	Het
Zfp106	T	A	2: 120,365,288 (GRCm39)	K373M	probably benign	Het

Other mutations in Zbtb45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02588:Zbtb45	APN	7	12,740,204 (GRCm39)	nonsense	probably null
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

2014-05-07