Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02448:Blzf1'

293599

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Blzf1

Ensembl Gene

ENSMUSG00000026577

Gene Name

basic leucine zipper nuclear factor 1

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

IGL02448

Quality Score

Status

Chromosome

Chromosomal Location

164117368-164135056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164123350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 326 (I326F)

Ref Sequence

ENSEMBL: ENSMUSP00000027866 (fasta)

Gene Model

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

AlphaFold

Q8R2X8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027866
AA Change: I326F

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: I326F

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

possibly damaging
Transcript: ENSMUST00000086032
AA Change: I319F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: I319F

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
AA Change: I319F

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: I319F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	T	A	9: 20,786,866 (GRCm39)	I286F	probably damaging	Het
Arhgap5	A	G	12: 52,609,123 (GRCm39)	E1366G	probably damaging	Het
Cc2d2a	A	C	5: 43,840,547 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,051,147 (GRCm39)	E366G	possibly damaging	Het
Cdh17	T	C	4: 11,784,680 (GRCm39)	S279P	probably benign	Het
Cdh18	T	C	15: 23,173,875 (GRCm39)	S30P	probably benign	Het
Cep192	A	G	18: 68,002,518 (GRCm39)	T2238A	probably benign	Het
Cpped1	C	T	16: 11,623,253 (GRCm39)	E289K	probably benign	Het
Ctsq	A	T	13: 61,184,044 (GRCm39)	Y293N	probably damaging	Het
Epb41l2	A	G	10: 25,369,493 (GRCm39)	N20S	possibly damaging	Het
Gcc2	T	A	10: 58,128,393 (GRCm39)	C1304*	probably null	Het
Hsd3b5	C	T	3: 98,529,447 (GRCm39)	G61E	probably damaging	Het
Igfals	A	T	17: 25,099,161 (GRCm39)	N84I	probably damaging	Het
Irs2	A	T	8: 11,057,862 (GRCm39)	V190D	probably benign	Het
Kank1	T	A	19: 25,388,739 (GRCm39)	L804Q	probably damaging	Het
Kcnj2	G	T	11: 110,963,108 (GRCm39)	V167L	probably benign	Het
Kif20a	T	C	18: 34,761,507 (GRCm39)	V300A	possibly damaging	Het
Kmt2d	T	C	15: 98,741,991 (GRCm39)		probably benign	Het
Moxd1	T	C	10: 24,158,617 (GRCm39)	F424L	probably damaging	Het
Mpeg1	A	C	19: 12,439,973 (GRCm39)	D477A	probably benign	Het
Mtmr10	A	T	7: 63,957,898 (GRCm39)	Y166F	probably damaging	Het
Muc5b	T	G	7: 141,422,226 (GRCm39)	I4454S	possibly damaging	Het
Ntng1	G	A	3: 109,841,875 (GRCm39)		probably benign	Het
Or52r1b	T	C	7: 102,691,604 (GRCm39)	I306T	possibly damaging	Het
Or7e175	T	A	9: 20,048,937 (GRCm39)	L175*	probably null	Het
Pex11a	A	T	7: 79,387,208 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,333,960 (GRCm39)	D911G	probably benign	Het
Rc3h2	T	C	2: 37,279,817 (GRCm39)	T471A	probably benign	Het
Rif1	T	A	2: 52,006,708 (GRCm39)	L2214Q	probably damaging	Het
Rtel1	T	A	2: 180,977,830 (GRCm39)	S120T	probably benign	Het
Ryr1	A	G	7: 28,804,491 (GRCm39)		probably benign	Het
Sh3yl1	G	T	12: 30,989,666 (GRCm39)	A129S	probably damaging	Het
Slc25a10	A	G	11: 120,387,879 (GRCm39)	T191A	probably benign	Het
Slc8b1	T	C	5: 120,663,856 (GRCm39)	S359P	probably damaging	Het
Srf	T	C	17: 46,866,349 (GRCm39)	T136A	possibly damaging	Het
Stx1a	G	T	5: 135,052,473 (GRCm39)		probably benign	Het
Taf1d	T	A	9: 15,221,690 (GRCm39)	C224*	probably null	Het
Tnik	A	G	3: 28,675,226 (GRCm39)	S700G	probably null	Het
Ttn	T	C	2: 76,773,331 (GRCm39)	H2357R	probably benign	Het
Ttn	T	C	2: 76,566,458 (GRCm39)	E28145G	probably damaging	Het
Ush1c	C	A	7: 45,858,561 (GRCm39)	V576F	possibly damaging	Het
Xpc	T	C	6: 91,492,726 (GRCm39)	E19G	probably benign	Het
Zdhhc25	G	A	15: 88,485,045 (GRCm39)	V127M	probably damaging	Het

Other mutations in Blzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Blzf1	APN	1	164,131,499 (GRCm39)	unclassified	probably benign
IGL01445:Blzf1	APN	1	164,130,189 (GRCm39)	missense	possibly damaging	0.72
FR4737:Blzf1	UTSW	1	164,131,486 (GRCm39)	frame shift	probably null
R0855:Blzf1	UTSW	1	164,119,950 (GRCm39)	missense	possibly damaging	0.53
R1070:Blzf1	UTSW	1	164,131,499 (GRCm39)	unclassified	probably benign
R1225:Blzf1	UTSW	1	164,127,165 (GRCm39)	missense	probably damaging	1.00
R4660:Blzf1	UTSW	1	164,134,062 (GRCm39)	intron	probably benign
R5047:Blzf1	UTSW	1	164,134,037 (GRCm39)	missense	possibly damaging	0.50
R5552:Blzf1	UTSW	1	164,130,058 (GRCm39)	missense	probably damaging	1.00
R5641:Blzf1	UTSW	1	164,134,038 (GRCm39)	missense	probably benign	0.01
R6677:Blzf1	UTSW	1	164,130,181 (GRCm39)	missense	possibly damaging	0.86
R7085:Blzf1	UTSW	1	164,129,893 (GRCm39)	missense	probably damaging	1.00
R7233:Blzf1	UTSW	1	164,123,512 (GRCm39)	splice site	probably null
R7293:Blzf1	UTSW	1	164,123,452 (GRCm39)	missense	possibly damaging	0.91
R7801:Blzf1	UTSW	1	164,123,478 (GRCm39)	missense	probably benign	0.45
R8669:Blzf1	UTSW	1	164,130,113 (GRCm39)	missense	possibly damaging	0.67
R8712:Blzf1	UTSW	1	164,125,859 (GRCm39)	missense	possibly damaging	0.65
R9657:Blzf1	UTSW	1	164,134,023 (GRCm39)	missense	probably benign

Posted On

2015-04-16