Mutagenetix > Incidental Mutation

Incidental Mutation 'R5641:Blzf1'

440647

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R5641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164117368-164135056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164134038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 4 (M4L)

Ref Sequence

ENSEMBL: ENSMUSP00000083196 (fasta)

Gene Model

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

AlphaFold

Q8R2X8

Predicted Effect

probably benign
Transcript: ENSMUST00000027866
AA Change: M4L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: M4L

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: M4L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: M4L

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: M4L

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

SMART Domains

Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: M4L

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: ENSMUST00000195474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193237

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

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,289,877 (GRCm39)	M1398L	probably benign	Het
Acad12	A	G	5: 121,742,084 (GRCm39)		probably benign	Het
Aldh1a7	T	C	19: 20,693,293 (GRCm39)	I209V	probably benign	Het
Alkal2	G	A	12: 30,937,264 (GRCm39)		probably null	Het
Aqr	A	G	2: 113,979,515 (GRCm39)	F307L	probably damaging	Het
Atp2a2	A	G	5: 122,595,639 (GRCm39)	L932P	probably damaging	Het
Atxn7	T	C	14: 14,013,638 (GRCm38)	M113T	probably damaging	Het
Brca2	C	A	5: 150,480,364 (GRCm39)	S2711R	probably damaging	Het
Bzw1	A	T	1: 58,436,883 (GRCm39)	Q70L	probably damaging	Het
Cd34	T	A	1: 194,630,276 (GRCm39)	I70N	probably benign	Het
Chac1	A	G	2: 119,181,999 (GRCm39)	Y39C	probably damaging	Het
Col6a2	G	C	10: 76,449,112 (GRCm39)	P275A	probably damaging	Het
Crb1	T	A	1: 139,176,627 (GRCm39)	N452I	probably damaging	Het
Ctrc	T	C	4: 141,566,094 (GRCm39)	N188S	probably damaging	Het
Dnah7b	G	A	1: 46,307,924 (GRCm39)		probably null	Het
Etl4	GGGGAAGAACCGG	GGG	2: 20,811,273 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,576,081 (GRCm39)		probably null	Het
Gm5616	T	A	9: 48,361,716 (GRCm39)		noncoding transcript	Het
Gm7535	T	C	17: 18,131,788 (GRCm39)		probably benign	Het
Hnrnpr	T	C	4: 136,059,798 (GRCm39)	S200P	probably damaging	Het
Ighg2b	T	C	12: 113,270,767 (GRCm39)	N121S	unknown	Het
Il21	T	A	3: 37,281,917 (GRCm39)	K76*	probably null	Het
Jup	T	A	11: 100,267,632 (GRCm39)	T564S	possibly damaging	Het
Kcns2	G	C	15: 34,839,199 (GRCm39)	R187S	possibly damaging	Het
Klhl18	G	A	9: 110,275,896 (GRCm39)	T84M	probably damaging	Het
Mtor	T	A	4: 148,630,882 (GRCm39)	L2280M	probably damaging	Het
Ncoa6	A	G	2: 155,263,756 (GRCm39)	I226T	probably benign	Het
Nipbl	A	T	15: 8,396,196 (GRCm39)	Y126N	possibly damaging	Het
Nlrp4a	T	A	7: 26,149,589 (GRCm39)	C399S	probably damaging	Het
Nphp3	A	G	9: 103,913,352 (GRCm39)	K54E	probably damaging	Het
Nsun2	T	A	13: 69,771,368 (GRCm39)	V326E	probably benign	Het
Oosp3	T	C	19: 11,674,537 (GRCm39)		probably null	Het
Or4k15b	A	G	14: 50,272,746 (GRCm39)	I38T	probably benign	Het
Pcdhga9	T	C	18: 37,871,301 (GRCm39)	S377P	probably damaging	Het
Pdlim3	A	G	8: 46,368,300 (GRCm39)		probably null	Het
Pla2r1	A	T	2: 60,345,328 (GRCm39)	W343R	probably damaging	Het
Prox2	A	G	12: 85,134,721 (GRCm39)	V520A	probably benign	Het
Rfx3	T	C	19: 27,771,008 (GRCm39)		probably null	Het
Rif1	A	C	2: 52,011,170 (GRCm39)	R2412S	possibly damaging	Het
Rreb1	T	C	13: 38,131,397 (GRCm39)	L1517P	probably benign	Het
Rxfp1	T	C	3: 79,594,199 (GRCm39)	N65S	probably damaging	Het
Sbf2	T	C	7: 110,038,108 (GRCm39)	E399G	probably damaging	Het
Slc36a4	A	C	9: 15,640,098 (GRCm39)		probably null	Het
Slco1a1	A	T	6: 141,885,695 (GRCm39)	M110K	probably damaging	Het
Stat5a	T	A	11: 100,767,634 (GRCm39)	C401S	probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Tmem150c	T	C	5: 100,231,523 (GRCm39)	T151A	probably damaging	Het
Ube4a	A	T	9: 44,862,179 (GRCm39)	M173K	probably damaging	Het
Vmn1r188	A	T	13: 22,272,342 (GRCm39)	S99C	probably damaging	Het
Vmn2r70	C	T	7: 85,208,572 (GRCm39)	C635Y	probably damaging	Het
Zfp644	T	C	5: 106,767,461 (GRCm39)	K24E	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
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

Predicted Primers

PCR Primer
(F):5'- AACGAACAGTTGTATTACCTGCC -3'
(R):5'- TACATTACAGCCCGTCAAAAGG -3'

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

Posted On

2016-11-08