Mutagenetix > Incidental Mutation

Incidental Mutation 'R1508:Jazf1'

168059

Institutional Source

Beutler Lab

Gene Symbol

Jazf1

Ensembl Gene

ENSMUSG00000063568

Gene Name

JAZF zinc finger 1

Synonyms

Jaz1, Tip27

MMRRC Submission

040869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52745782-53045616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52789166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 103 (H103Y)

Ref Sequence

ENSEMBL: ENSMUSP00000074129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074541]

AlphaFold

Q80ZQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000074541
AA Change: H103Y

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074129
Gene: ENSMUSG00000063568
AA Change: H103Y

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	37	6.67e-2	SMART
low complexity region	109	147	N/A	INTRINSIC
low complexity region	151	162	N/A	INTRINSIC
ZnF_C2H2	173	198	1.25e-1	SMART
ZnF_C2H2	208	230	5.83e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136250

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	T	C	4: 111,513,595 (GRCm39)	I447T	probably benign	Het
Albfm1	A	G	5: 90,729,780 (GRCm39)	E401G	probably benign	Het
Alpk2	C	A	18: 65,482,376 (GRCm39)	G544V	probably damaging	Het
Apob	T	C	12: 8,061,481 (GRCm39)	I3321T	possibly damaging	Het
Ccdc47	C	T	11: 106,093,242 (GRCm39)	D70N	probably damaging	Het
Ceacam13	T	A	7: 17,744,996 (GRCm39)	V22D	possibly damaging	Het
Cep76	A	G	18: 67,756,358 (GRCm39)	M491T	probably damaging	Het
Clec4a3	A	T	6: 122,944,467 (GRCm39)	N171I	probably benign	Het
Col20a1	A	G	2: 180,634,370 (GRCm39)	I112V	probably damaging	Het
Col4a4	A	T	1: 82,433,557 (GRCm39)	L1462H	unknown	Het
Cubn	A	G	2: 13,431,916 (GRCm39)	F1226L	probably benign	Het
Cyp4a31	T	A	4: 115,422,250 (GRCm39)	I77K	possibly damaging	Het
Dcaf1	A	T	9: 106,731,376 (GRCm39)	T618S	probably damaging	Het
Echdc3	A	T	2: 6,211,231 (GRCm39)	S129T	probably benign	Het
Efcab3	T	C	11: 104,601,503 (GRCm39)	V272A	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat1	T	C	8: 45,479,899 (GRCm39)	F2982L	probably benign	Het
Gm9476	A	T	10: 100,142,700 (GRCm39)		noncoding transcript	Het
Golga1	A	G	2: 38,913,261 (GRCm39)	M542T	probably benign	Het
H2-D1	T	A	17: 35,482,844 (GRCm39)	C125S	probably damaging	Het
Klhl12	T	C	1: 134,416,712 (GRCm39)	V478A	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,330 (GRCm39)	T220S	probably damaging	Het
Myocd	C	T	11: 65,075,342 (GRCm39)	C594Y	probably damaging	Het
Nf1	A	G	11: 79,331,735 (GRCm39)	E700G	probably damaging	Het
Or52z15	T	C	7: 103,332,678 (GRCm39)	V251A	possibly damaging	Het
Or6k2	T	A	1: 173,986,930 (GRCm39)	M197K	possibly damaging	Het
Papln	A	G	12: 83,829,690 (GRCm39)	Q937R	probably damaging	Het
Pex14	T	C	4: 149,052,029 (GRCm39)	R147G	probably damaging	Het
Plppr3	A	T	10: 79,703,374 (GRCm39)	Y37N	probably damaging	Het
Polr1b	A	G	2: 128,955,654 (GRCm39)	T522A	probably benign	Het
Ppp3cb	T	C	14: 20,574,492 (GRCm39)	N201S	probably damaging	Het
Prf1	A	G	10: 61,139,329 (GRCm39)	D429G	probably damaging	Het
Ptprn2	T	C	12: 117,148,342 (GRCm39)	S701P	probably damaging	Het
Rp1l1	C	T	14: 64,268,341 (GRCm39)	T1309I	possibly damaging	Het
Sipa1l1	T	A	12: 82,487,667 (GRCm39)	M1647K	probably damaging	Het
Skint11	T	C	4: 114,088,963 (GRCm39)		probably null	Het
Slc8a2	T	C	7: 15,874,522 (GRCm39)	Y257H	probably benign	Het
Slfn1	T	A	11: 83,012,181 (GRCm39)	I99N	probably damaging	Het
Slit2	A	G	5: 48,349,591 (GRCm39)	T282A	probably damaging	Het
Slit3	A	T	11: 35,461,448 (GRCm39)	D228V	probably damaging	Het
Specc1l	A	G	10: 75,143,072 (GRCm39)	N1031S	probably benign	Het
Supt6	A	G	11: 78,107,029 (GRCm39)		probably null	Het
Tdrd1	G	A	19: 56,839,790 (GRCm39)	E617K	probably damaging	Het
Tex15	C	G	8: 34,066,880 (GRCm39)	F2103L	probably damaging	Het
Trim21	T	A	7: 102,208,783 (GRCm39)	Q312L	possibly damaging	Het
Trim56	C	T	5: 137,142,791 (GRCm39)	A242T	probably benign	Het
Usp4	T	C	9: 108,249,873 (GRCm39)	V467A	probably benign	Het
Vmn2r65	T	A	7: 84,589,886 (GRCm39)	I677L	probably benign	Het
Vstm4	T	C	14: 32,585,511 (GRCm39)	V26A	probably damaging	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfat	T	A	15: 68,050,600 (GRCm39)	K807I	probably damaging	Het

Other mutations in Jazf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0006:Jazf1	UTSW	6	52,871,071 (GRCm39)	splice site	probably benign
R0006:Jazf1	UTSW	6	52,871,071 (GRCm39)	splice site	probably benign
R0546:Jazf1	UTSW	6	52,754,681 (GRCm39)	missense	possibly damaging	0.65
R1522:Jazf1	UTSW	6	52,789,168 (GRCm39)	missense	probably damaging	0.98
R1926:Jazf1	UTSW	6	53,045,516 (GRCm39)	missense	probably benign
R1938:Jazf1	UTSW	6	52,754,600 (GRCm39)	missense	probably damaging	1.00
R5033:Jazf1	UTSW	6	52,754,525 (GRCm39)	missense	probably damaging	1.00
R6240:Jazf1	UTSW	6	52,754,537 (GRCm39)	missense	probably damaging	0.98
R6449:Jazf1	UTSW	6	52,754,640 (GRCm39)	missense	probably damaging	0.99
R7253:Jazf1	UTSW	6	52,754,637 (GRCm39)	missense	probably benign	0.01
R7454:Jazf1	UTSW	6	52,870,929 (GRCm39)	splice site	probably null
R8873:Jazf1	UTSW	6	52,789,165 (GRCm39)	missense	probably damaging	1.00
R9782:Jazf1	UTSW	6	52,747,311 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TGTCCCAGGCAGAAACATGAGCAG -3'
(R):5'- GCAGCTAGAAGGCCACTCCATTAC -3'

Sequencing Primer
(F):5'- TGCAGTCAGGCACATAGTC -3'
(R):5'- GCAGAGCATCTGTCAAGCTTTAC -3'

Posted On

2014-04-13