Mutagenetix > Incidental Mutation

Incidental Mutation 'R0133:Ikzf1'

21768

Institutional Source

Beutler Lab

Gene Symbol

Ikzf1

Ensembl Gene

ENSMUSG00000018654

Gene Name

IKAROS family zinc finger 1

Synonyms

Zfpn1a1, 5832432G11Rik, LyF-1, Ikaros

MMRRC Submission

038418-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0133 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11634980-11722926 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 11691015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018798] [ENSMUST00000048122] [ENSMUST00000065433] [ENSMUST00000076700] [ENSMUST00000126058]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018798

SMART Domains

Protein: ENSMUSP00000018798
Gene: ENSMUSG00000018654

Domain	Start	End	E-Value	Type
ZnF_C2H2	58	80	8.02e-5	SMART
ZnF_C2H2	86	108	2.57e-3	SMART
ZnF_C2H2	114	137	8.22e-2	SMART
low complexity region	282	293	N/A	INTRINSIC
ZnF_C2H2	371	393	7.49e0	SMART
ZnF_C2H2	399	423	5.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000048122

SMART Domains

Protein: ENSMUSP00000046974
Gene: ENSMUSG00000018654

Domain	Start	End	E-Value	Type
ZnF_C2H2	58	80	8.02e-5	SMART
ZnF_C2H2	86	108	2.57e-3	SMART
ZnF_C2H2	114	137	8.22e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000065433

SMART Domains

Protein: ENSMUSP00000067372
Gene: ENSMUSG00000018654

Domain	Start	End	E-Value	Type
ZnF_C2H2	137	159	1.43e-1	SMART
ZnF_C2H2	165	187	8.02e-5	SMART
ZnF_C2H2	193	215	2.57e-3	SMART
ZnF_C2H2	221	244	8.22e-2	SMART
low complexity region	389	400	N/A	INTRINSIC
ZnF_C2H2	478	500	7.49e0	SMART
ZnF_C2H2	506	530	5.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076700

SMART Domains

Protein: ENSMUSP00000075992
Gene: ENSMUSG00000018654

Domain	Start	End	E-Value	Type
ZnF_C2H2	117	139	1.43e-1	SMART
ZnF_C2H2	145	167	8.02e-5	SMART
ZnF_C2H2	173	195	2.57e-3	SMART
ZnF_C2H2	201	224	8.22e-2	SMART
low complexity region	369	380	N/A	INTRINSIC
ZnF_C2H2	458	480	7.49e0	SMART
ZnF_C2H2	486	510	5.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126058

SMART Domains

Protein: ENSMUSP00000119960
Gene: ENSMUSG00000018654

Domain	Start	End	E-Value	Type
ZnF_C2H2	58	78	2.14e0	SMART

Meta Mutation Damage Score

0.2252

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 95.2%
20x: 89.4%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to a family of transcription factors that are characterized by a set of four DNA-binding zinc fingers at the N-terminus and two C-terminal zinc fingers involved in protein dimerization. It is regulated by both epigenetic and transcription factors. This protein is a transcriptional regulator of hematopoietic cell development and homeostasis. In addition, it is required to confer temporal competence to retinal progenitor cells during embryogenesis, demonstrating an essential function in nervous system development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mutants have a variety of T, B, and hematopoeitic cell maturation defects. Heterozygotes for one allele exhibit dominant negative effects and mice develop lymphoproliferative disorders. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	C	11: 102,996,214 (GRCm39)	S172P	probably damaging	Het
Akap6	A	T	12: 53,186,254 (GRCm39)	K1223*	probably null	Het
Akna	G	A	4: 63,297,598 (GRCm39)	Q819*	probably null	Het
Ankrd2	T	C	19: 42,032,510 (GRCm39)	V257A	probably benign	Het
Arap1	T	A	7: 101,035,436 (GRCm39)	D30E	probably damaging	Het
Atp6v0d2	T	C	4: 19,910,578 (GRCm39)		probably benign	Het
Blm	T	A	7: 80,152,115 (GRCm39)	I611F	possibly damaging	Het
Ccng2	A	G	5: 93,421,240 (GRCm39)	K250R	probably benign	Het
Cdhr3	A	G	12: 33,142,751 (GRCm39)	L8P	possibly damaging	Het
Csf2rb	T	G	15: 78,223,204 (GRCm39)		probably benign	Het
Ctbs	A	G	3: 146,163,223 (GRCm39)	I204V	probably benign	Het
Cxcl16	T	A	11: 70,349,596 (GRCm39)	E76D	possibly damaging	Het
Dhx15	T	C	5: 52,311,414 (GRCm39)	I689V	possibly damaging	Het
Dlk2	T	C	17: 46,609,868 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,311,835 (GRCm39)	M4452K	probably damaging	Het
Dok4	T	A	8: 95,591,991 (GRCm39)	I280F	probably benign	Het
Dsc3	T	C	18: 20,104,639 (GRCm39)	T563A	probably damaging	Het
Dsg1b	C	T	18: 20,537,935 (GRCm39)	A617V	probably damaging	Het
Eps8l2	C	T	7: 140,942,120 (GRCm39)	P721S	unknown	Het
Evx2	T	C	2: 74,489,426 (GRCm39)	D112G	possibly damaging	Het
Fam124a	C	A	14: 62,843,782 (GRCm39)	T430K	possibly damaging	Het
Fbrs	C	T	7: 127,088,782 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,647 (GRCm39)	T22A	probably benign	Het
Fmo5	T	G	3: 97,552,952 (GRCm39)	V300G	probably damaging	Het
Gadl1	T	C	9: 115,770,411 (GRCm39)	S75P	probably benign	Het
Galnt2	T	G	8: 125,065,277 (GRCm39)	I469S	probably benign	Het
Gga3	T	A	11: 115,479,805 (GRCm39)		probably benign	Het
Gm10647	T	C	9: 66,705,771 (GRCm39)		probably benign	Het
Gm14180	C	A	11: 99,625,043 (GRCm39)	C25F	unknown	Het
Grid2	A	T	6: 64,297,116 (GRCm39)	D493V	probably damaging	Het
Gzmc	T	A	14: 56,469,754 (GRCm39)	Y182F	possibly damaging	Het
Hecw2	A	C	1: 53,869,899 (GRCm39)	L1443R	probably damaging	Het
Igkv4-62	A	G	6: 69,377,053 (GRCm39)	I32T	probably benign	Het
Il27ra	G	A	8: 84,760,571 (GRCm39)		probably benign	Het
Jmjd1c	C	A	10: 67,076,587 (GRCm39)	A2137D	probably benign	Het
Kcnc2	T	C	10: 112,294,502 (GRCm39)	C579R	probably damaging	Het
Kdr	T	C	5: 76,112,498 (GRCm39)	T862A	probably damaging	Het
Kif17	T	C	4: 138,005,556 (GRCm39)	S182P	possibly damaging	Het
Klf5	A	T	14: 99,539,318 (GRCm39)	T164S	probably benign	Het
Ksr2	T	G	5: 117,693,359 (GRCm39)	V269G	possibly damaging	Het
Mcm5	T	A	8: 75,847,539 (GRCm39)	D445E	probably damaging	Het
Mlkl	T	C	8: 112,054,580 (GRCm39)	I186V	probably damaging	Het
Muc4	A	T	16: 32,591,978 (GRCm39)	S3017C	possibly damaging	Het
Myo15a	T	C	11: 60,368,676 (GRCm39)	F479L	possibly damaging	Het
Myo6	A	G	9: 80,181,257 (GRCm39)		probably benign	Het
Myom1	T	A	17: 71,354,782 (GRCm39)	V393E	probably damaging	Het
Nup98	T	A	7: 101,788,859 (GRCm39)		probably null	Het
Odf2l	A	G	3: 144,854,302 (GRCm39)	N383S	probably damaging	Het
Olfml3	A	C	3: 103,644,342 (GRCm39)		probably null	Het
Or10q1	T	A	19: 13,727,352 (GRCm39)	I294N	probably damaging	Het
Or7g17	G	A	9: 18,767,925 (GRCm39)	M1I	probably null	Het
Or8g18	A	G	9: 39,149,307 (GRCm39)	Y141H	probably benign	Het
Or8j3b	A	T	2: 86,205,159 (GRCm39)	V199E	possibly damaging	Het
Plxna4	A	T	6: 32,174,009 (GRCm39)	D1195E	probably benign	Het
Ppp1r1a	T	A	15: 103,446,247 (GRCm39)	H20L	probably damaging	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Prom2	A	G	2: 127,380,258 (GRCm39)		probably benign	Het
Rasal3	T	C	17: 32,622,357 (GRCm39)	M1V	probably null	Het
Rhoj	A	G	12: 75,441,194 (GRCm39)		probably null	Het
Rnf40	C	T	7: 127,196,032 (GRCm39)		probably null	Het
Slc15a3	T	C	19: 10,820,614 (GRCm39)	L77P	probably damaging	Het
Slc26a6	T	C	9: 108,738,522 (GRCm39)	V586A	possibly damaging	Het
Slc30a10	T	A	1: 185,187,370 (GRCm39)	L37Q	probably damaging	Het
Slc43a2	T	A	11: 75,454,403 (GRCm39)	M316K	probably benign	Het
Smarcal1	T	C	1: 72,672,010 (GRCm39)	F844L	probably benign	Het
Snx19	A	G	9: 30,339,912 (GRCm39)	E350G	possibly damaging	Het
Tecta	T	A	9: 42,278,524 (GRCm39)	T995S	probably benign	Het
Tmc3	T	G	7: 83,261,681 (GRCm39)	N586K	probably damaging	Het
Tmem107	T	A	11: 68,963,239 (GRCm39)		probably benign	Het
Tmem247	A	G	17: 87,225,989 (GRCm39)	Q51R	probably benign	Het
Tmpo	G	T	10: 90,999,900 (GRCm39)		probably benign	Het
Ubr5	T	A	15: 37,996,815 (GRCm39)	T1894S	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Xirp2	T	A	2: 67,347,468 (GRCm39)	H3236Q	probably benign	Het
Zfand4	G	A	6: 116,291,700 (GRCm39)	D545N	probably benign	Het
Zkscan3	G	T	13: 21,578,944 (GRCm39)	P155T	possibly damaging	Het

Other mutations in Ikzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Ikzf1	APN	11	11,718,923 (GRCm39)	missense	probably damaging	1.00
IGL01367:Ikzf1	APN	11	11,698,358 (GRCm39)	missense	probably benign	0.04
IGL01823:Ikzf1	APN	11	11,719,091 (GRCm39)	missense	possibly damaging	0.64
IGL02342:Ikzf1	APN	11	11,650,216 (GRCm39)	utr 5 prime	probably benign
IGL02452:Ikzf1	APN	11	11,698,545 (GRCm39)	missense	probably damaging	1.00
IGL03209:Ikzf1	APN	11	11,650,226 (GRCm39)	missense	probably benign
IGL03236:Ikzf1	APN	11	11,657,848 (GRCm39)	missense	probably damaging	1.00
Herrscher	UTSW	11	11,718,961 (GRCm39)	nonsense	probably null
Star_lord	UTSW	11	11,719,448 (GRCm39)	missense	probably damaging	1.00
waxwing	UTSW	11	11,698,464 (GRCm39)	nonsense	probably null
R0417:Ikzf1	UTSW	11	11,719,352 (GRCm39)	missense	probably benign	0.19
R0633:Ikzf1	UTSW	11	11,719,223 (GRCm39)	missense	probably damaging	1.00
R0734:Ikzf1	UTSW	11	11,708,195 (GRCm39)	missense	probably damaging	1.00
R1693:Ikzf1	UTSW	11	11,657,838 (GRCm39)	missense	probably damaging	1.00
R2114:Ikzf1	UTSW	11	11,719,473 (GRCm39)	missense	probably damaging	1.00
R2927:Ikzf1	UTSW	11	11,719,324 (GRCm39)	missense	probably damaging	1.00
R4250:Ikzf1	UTSW	11	11,704,166 (GRCm39)	missense	probably damaging	1.00
R5156:Ikzf1	UTSW	11	11,719,448 (GRCm39)	missense	probably damaging	1.00
R5912:Ikzf1	UTSW	11	11,698,464 (GRCm39)	nonsense	probably null
R6274:Ikzf1	UTSW	11	11,718,961 (GRCm39)	nonsense	probably null
R7614:Ikzf1	UTSW	11	11,719,019 (GRCm39)	missense	probably damaging	1.00
R7727:Ikzf1	UTSW	11	11,698,339 (GRCm39)	missense	probably damaging	1.00
R7759:Ikzf1	UTSW	11	11,719,256 (GRCm39)	missense	probably damaging	0.98
R8758:Ikzf1	UTSW	11	11,711,359 (GRCm39)	missense	probably benign	0.03
R8946:Ikzf1	UTSW	11	11,719,485 (GRCm39)	missense	possibly damaging	0.86
R8998:Ikzf1	UTSW	11	11,635,013 (GRCm39)	start gained	probably benign
R8999:Ikzf1	UTSW	11	11,635,013 (GRCm39)	start gained	probably benign
R9624:Ikzf1	UTSW	11	11,719,219 (GRCm39)	missense	probably damaging	1.00
Z1176:Ikzf1	UTSW	11	11,708,194 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGCTCTGAGGAGTGACTTTTCTG -3'
(R):5'- TCAATGACACACTGGATGCTGGG -3'

Sequencing Primer
(F):5'- CTGTAGCTTGTCTGAAGACAAC -3'
(R):5'- CTGGGTGTTTAATGATAGAATGGC -3'

Posted On

2013-04-12