Mutagenetix > Incidental Mutation

Incidental Mutation 'R9657:Blzf1'

727358

Institutional Source

Beutler Lab

Gene Symbol

Blzf1

Ensembl Gene

ENSMUSG00000026577

Gene Name

basic leucine zipper nuclear factor 1

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9657 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164117368-164135056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164134023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 9 (S9G)

Ref Sequence

ENSEMBL: ENSMUSP00000027866 (fasta)

Gene Model

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

AlphaFold

Q8R2X8

Predicted Effect

probably benign
Transcript: ENSMUST00000027866
AA Change: S9G

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

SMART Domains

Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: S9G

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
AA Change: S9G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: S9G

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: S9G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: S9G

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: 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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,243,379 (GRCm39)	D1747E	probably benign	Het
Acad11	T	A	9: 103,953,035 (GRCm39)	I88N	possibly damaging	Het
Atp2b4	T	C	1: 133,656,478 (GRCm39)	E724G	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,599 (GRCm39)	S63P	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,104 (GRCm39)	T283A	probably benign	Het
Cdh22	T	C	2: 164,965,715 (GRCm39)	D488G	probably benign	Het
Cep290	A	G	10: 100,351,003 (GRCm39)	E688G	possibly damaging	Het
Cldn10	A	C	14: 119,025,781 (GRCm39)	E71D	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cyp3a16	T	C	5: 145,386,979 (GRCm39)	D337G	probably null	Het
Dnah5	A	T	15: 28,410,089 (GRCm39)	D3654V	probably damaging	Het
Dock1	T	C	7: 134,339,429 (GRCm39)	S100P	possibly damaging	Het
Hdgfl2	T	C	17: 56,405,978 (GRCm39)	V488A	unknown	Het
Itih2	T	C	2: 10,107,686 (GRCm39)	T627A	probably damaging	Het
Katnip	A	G	7: 125,441,956 (GRCm39)	S648G	probably benign	Het
Klhl33	T	C	14: 51,134,117 (GRCm39)	D144G	probably benign	Het
Lca5l	G	A	16: 95,974,953 (GRCm39)	Q324*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mical2	A	G	7: 111,921,806 (GRCm39)	T542A	probably benign	Het
Moxd1	T	A	10: 24,128,485 (GRCm39)	V179E	probably benign	Het
Myh7b	A	G	2: 155,455,963 (GRCm39)	Y116C	probably damaging	Het
Myoc	C	T	1: 162,467,229 (GRCm39)	R133*	probably null	Het
Nol3	A	T	8: 106,005,641 (GRCm39)	I12F	probably damaging	Het
Nrap	A	G	19: 56,352,377 (GRCm39)	V605A	probably benign	Het
Or5w13	T	C	2: 87,524,121 (GRCm39)	Y35C	probably damaging	Het
Or9m2	A	C	2: 87,821,310 (GRCm39)	N285T	probably damaging	Het
Pag1	G	T	3: 9,769,791 (GRCm39)	S52R	probably damaging	Het
Pbxip1	A	G	3: 89,355,056 (GRCm39)	D525G	probably benign	Het
Pla2g4f	A	G	2: 120,135,138 (GRCm39)	F437L	probably benign	Het
Podn	A	C	4: 107,884,231 (GRCm39)	I86S	probably damaging	Het
Postn	A	G	3: 54,290,820 (GRCm39)	T676A	probably benign	Het
Ppp1r1c	A	G	2: 79,638,718 (GRCm39)	E104G	probably benign	Het
Prss53	T	C	7: 127,486,238 (GRCm39)	T436A	probably damaging	Het
Psme4	A	T	11: 30,788,980 (GRCm39)	E1127D	probably benign	Het
Ptpn18	C	A	1: 34,512,473 (GRCm39)	A426E	possibly damaging	Het
Ptprz1	T	G	6: 23,042,377 (GRCm39)	C2044G	possibly damaging	Het
Rad54l2	C	A	9: 106,581,372 (GRCm39)	V850L	probably damaging	Het
Ranbp9	A	G	13: 43,557,155 (GRCm39)	I28T	unknown	Het
Rapgef2	A	T	3: 78,999,191 (GRCm39)	V527E	probably damaging	Het
Rere	C	A	4: 150,699,390 (GRCm39)	P825T	unknown	Het
Rundc3a	A	G	11: 102,291,578 (GRCm39)	T349A	probably benign	Het
Scn2a	T	C	2: 65,566,032 (GRCm39)	F1352S	probably damaging	Het
Senp7	T	A	16: 55,944,295 (GRCm39)	C206*	probably null	Het
Serac1	C	T	17: 6,119,658 (GRCm39)	V91I	probably benign	Het
Serpina1f	G	A	12: 103,656,050 (GRCm39)	Q393*	probably null	Het
Slc8a1	T	C	17: 81,955,244 (GRCm39)	E598G	probably damaging	Het
Slmap	A	T	14: 26,151,013 (GRCm39)	H518Q	probably benign	Het
Spg11	G	A	2: 121,910,781 (GRCm39)	R1199C	probably damaging	Het
Tada1	T	C	1: 166,214,312 (GRCm39)	S104P	possibly damaging	Het
Tbck	A	G	3: 132,421,451 (GRCm39)	D186G	probably damaging	Het
Tdrd9	A	C	12: 112,002,824 (GRCm39)	R824S	possibly damaging	Het
Tmem161a	T	C	8: 70,630,260 (GRCm39)		probably null	Het
Trim55	G	A	3: 19,728,671 (GRCm39)	G494D	possibly damaging	Het
Ttc17	T	A	2: 94,237,010 (GRCm39)	M1L	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt3a1	A	C	15: 9,280,133 (GRCm39)	S32R	probably damaging	Het
Vgll3	T	C	16: 65,636,343 (GRCm39)	S220P	probably benign	Het
Virma	A	G	4: 11,544,898 (GRCm39)	E1569G	probably damaging	Het
Vmn1r54	C	G	6: 90,246,984 (GRCm39)	F299L	probably benign	Het
Vmn2r114	A	G	17: 23,510,690 (GRCm39)	S597P	probably damaging	Het
Wdr7	A	G	18: 64,057,918 (GRCm39)	D1249G	probably damaging	Het
Wdr97	A	G	15: 76,245,476 (GRCm39)	Y1271C		Het
Yju2b	T	C	8: 84,987,084 (GRCm39)	K138E	possibly damaging	Het
Ypel4	A	G	2: 84,568,068 (GRCm39)	Y108C	probably damaging	Het
Zfp770	A	G	2: 114,027,766 (GRCm39)	V101A	probably damaging	Het
Zfyve9	A	T	4: 108,575,729 (GRCm39)	C451S	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
IGL02448:Blzf1	APN	1	164,123,350 (GRCm39)	missense	possibly damaging	0.63
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

Predicted Primers

PCR Primer
(F):5'- AAACGAACAGTTGTATTACCTGCC -3'
(R):5'- TACAGCCCGTCAAAAGGAAATAATG -3'

Sequencing Primer
(F):5'- CTCTCTGAGTTCAAGGCCAATGAG -3'
(R):5'- CCCGTCAAAAGGAAATAATGAAGAAC -3'

Posted On

2022-10-06