Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:Blzf1'

50330

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Blzf1

Ensembl Gene

ENSMUSG00000026577

Gene Name

basic leucine zipper nuclear factor 1

Synonyms

Jem-1, Golgin-45, 1700030G05Rik, Blzf1l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

164289800-164307489 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 164303930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027866] [ENSMUST00000086032] [ENSMUST00000120447] [ENSMUST00000191947] [ENSMUST00000193683] [ENSMUST00000193808]

AlphaFold

Q8R2X8

Predicted Effect

probably benign
Transcript: ENSMUST00000027866

SMART Domains

Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577

Domain	Start	End	E-Value	Type
coiled coil region	130	175	N/A	INTRINSIC
Pfam:DASH_Hsk3	191	236	2.9e-13	PFAM
coiled coil region	243	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086032

SMART Domains

Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577

Domain	Start	End	E-Value	Type
coiled coil region	123	168	N/A	INTRINSIC
Pfam:DASH_Hsk3	184	230	2.6e-18	PFAM
coiled coil region	236	269	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120447

SMART Domains

Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577

Domain	Start	End	E-Value	Type
coiled coil region	123	168	N/A	INTRINSIC
Pfam:DASH_Hsk3	184	230	2.6e-18	PFAM
coiled coil region	236	269	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148884

Predicted Effect

probably benign
Transcript: ENSMUST00000191947

SMART Domains

Protein: ENSMUSP00000141431
Gene: ENSMUSG00000026575

Domain	Start	End	E-Value	Type
DM10	22	110	1.9e-37	SMART
NDK	110	248	1.75e-68	SMART
NDK	256	394	1.11e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193237

Predicted Effect

probably benign
Transcript: ENSMUST00000193683

SMART Domains

Protein: ENSMUSP00000141963
Gene: ENSMUSG00000026575

Domain	Start	End	E-Value	Type
DM10	22	110	1.9e-37	SMART
NDK	110	248	1.75e-68	SMART
NDK	256	394	1.11e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193808

SMART Domains

Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575

Domain	Start	End	E-Value	Type
DM10	22	110	1.9e-37	SMART
NDK	110	248	1.75e-68	SMART
NDK	256	394	1.11e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195474

Meta Mutation Damage Score

0.0898

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855		probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252		probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260		probably null	Het
Twf2	A	G	9: 106,212,828	I127V	probably benign	Het
Unc13c	A	G	9: 73,484,893	V2059A	probably damaging	Het

Other mutations in Blzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Blzf1	APN	1	164302620	missense	possibly damaging	0.72
IGL02448:Blzf1	APN	1	164295781	missense	possibly damaging	0.63
FR4737:Blzf1	UTSW	1	164303917	frame shift	probably null
R0855:Blzf1	UTSW	1	164292381	missense	possibly damaging	0.53
R1070:Blzf1	UTSW	1	164303930	unclassified	probably benign
R1225:Blzf1	UTSW	1	164299596	missense	probably damaging	1.00
R4660:Blzf1	UTSW	1	164306493	intron	probably benign
R5047:Blzf1	UTSW	1	164306468	missense	possibly damaging	0.50
R5552:Blzf1	UTSW	1	164302489	missense	probably damaging	1.00
R5641:Blzf1	UTSW	1	164306469	missense	probably benign	0.01
R6677:Blzf1	UTSW	1	164302612	missense	possibly damaging	0.86
R7085:Blzf1	UTSW	1	164302324	missense	probably damaging	1.00
R7233:Blzf1	UTSW	1	164295943	splice site	probably null
R7293:Blzf1	UTSW	1	164295883	missense	possibly damaging	0.91
R7801:Blzf1	UTSW	1	164295909	missense	probably benign	0.45
R8669:Blzf1	UTSW	1	164302544	missense	possibly damaging	0.67
R8712:Blzf1	UTSW	1	164298290	missense	possibly damaging	0.65
R9657:Blzf1	UTSW	1	164306454	missense	probably benign

Posted On

2013-06-21