Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Ikzf2'

574564

Institutional Source

Beutler Lab

Gene Symbol

Ikzf2

Ensembl Gene

ENSMUSG00000025997

Gene Name

IKAROS family zinc finger 2

Synonyms

A730095J18Rik, Zfpn1a2, Helios

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69531214-69687245 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 69578053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027146] [ENSMUST00000027146] [ENSMUST00000187184] [ENSMUST00000187184] [ENSMUST00000188110] [ENSMUST00000188110] [ENSMUST00000190016] [ENSMUST00000190016] [ENSMUST00000190771] [ENSMUST00000190771] [ENSMUST00000190855] [ENSMUST00000190855] [ENSMUST00000191262]

AlphaFold

P81183

Predicted Effect

probably null
Transcript: ENSMUST00000027146

SMART Domains

Protein: ENSMUSP00000027146
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
ZnF_C2H2	112	134	7.67e-2	SMART
ZnF_C2H2	140	162	1.72e-4	SMART
ZnF_C2H2	168	190	3.95e-4	SMART
ZnF_C2H2	196	219	3.58e-2	SMART
ZnF_C2H2	471	493	9.46e0	SMART
ZnF_C2H2	499	523	6.13e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000027146

SMART Domains

Protein: ENSMUSP00000027146
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
ZnF_C2H2	112	134	7.67e-2	SMART
ZnF_C2H2	140	162	1.72e-4	SMART
ZnF_C2H2	168	190	3.95e-4	SMART
ZnF_C2H2	196	219	3.58e-2	SMART
ZnF_C2H2	471	493	9.46e0	SMART
ZnF_C2H2	499	523	6.13e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000187184

SMART Domains

Protein: ENSMUSP00000141075
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
ZnF_C2H2	114	136	1.72e-4	SMART
ZnF_C2H2	142	164	3.95e-4	SMART
ZnF_C2H2	170	193	3.58e-2	SMART
ZnF_C2H2	445	467	9.46e0	SMART
ZnF_C2H2	473	497	6.13e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000187184

SMART Domains

Protein: ENSMUSP00000141075
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
ZnF_C2H2	114	136	1.72e-4	SMART
ZnF_C2H2	142	164	3.95e-4	SMART
ZnF_C2H2	170	193	3.58e-2	SMART
ZnF_C2H2	445	467	9.46e0	SMART
ZnF_C2H2	473	497	6.13e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188110

SMART Domains

Protein: ENSMUSP00000140069
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
ZnF_C2H2	114	136	7.3e-7	SMART
ZnF_C2H2	142	164	1.6e-6	SMART
ZnF_C2H2	399	421	4e-2	SMART
ZnF_C2H2	427	451	2.6e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188110

SMART Domains

Protein: ENSMUSP00000140069
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
ZnF_C2H2	114	136	7.3e-7	SMART
ZnF_C2H2	142	164	1.6e-6	SMART
ZnF_C2H2	399	421	4e-2	SMART
ZnF_C2H2	427	451	2.6e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000190016

SMART Domains

Protein: ENSMUSP00000140378
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000190016

SMART Domains

Protein: ENSMUSP00000140378
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000190771

SMART Domains

Protein: ENSMUSP00000139543
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	82	95	N/A	INTRINSIC
ZnF_C2H2	118	140	3.2e-4	SMART
ZnF_C2H2	146	168	7.3e-7	SMART
ZnF_C2H2	174	196	1.6e-6	SMART
ZnF_C2H2	202	225	1.5e-4	SMART
ZnF_C2H2	477	499	4e-2	SMART
ZnF_C2H2	505	529	2.6e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000190771

SMART Domains

Protein: ENSMUSP00000139543
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	82	95	N/A	INTRINSIC
ZnF_C2H2	118	140	3.2e-4	SMART
ZnF_C2H2	146	168	7.3e-7	SMART
ZnF_C2H2	174	196	1.6e-6	SMART
ZnF_C2H2	202	225	1.5e-4	SMART
ZnF_C2H2	477	499	4e-2	SMART
ZnF_C2H2	505	529	2.6e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000190855

SMART Domains

Protein: ENSMUSP00000140043
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
ZnF_C2H2	114	136	7.3e-7	SMART
ZnF_C2H2	142	164	1.6e-6	SMART
ZnF_C2H2	170	193	1.5e-4	SMART
ZnF_C2H2	397	419	4e-2	SMART
ZnF_C2H2	425	449	2.6e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000190855

SMART Domains

Protein: ENSMUSP00000140043
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
ZnF_C2H2	114	136	7.3e-7	SMART
ZnF_C2H2	142	164	1.6e-6	SMART
ZnF_C2H2	170	193	1.5e-4	SMART
ZnF_C2H2	397	419	4e-2	SMART
ZnF_C2H2	425	449	2.6e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000191262

SMART Domains

Protein: ENSMUSP00000139530
Gene: ENSMUSG00000025997

Domain	Start	End	E-Value	Type
ZnF_C2H2	51	74	1.5e-4	SMART
ZnF_C2H2	326	348	4e-2	SMART
ZnF_C2H2	354	378	2.6e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit postnatal lethality for unknown reasons. Survivors have decreased body weight. Postnatal lethality has complete penetrance on the C57BL/6 strain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,863,035	Y790H	probably damaging	Het
Bend3	A	C	10: 43,493,671	S7R	probably benign	Het
Ccdc106	A	G	7: 5,060,326	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,556,001	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,311,867	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cecr2	T	C	6: 120,762,529	S1406P	probably benign	Het
Cep290	A	G	10: 100,546,498	T208A	probably damaging	Het
Cep85l	A	C	10: 53,296,255	C569W	probably damaging	Het
Ces5a	G	A	8: 93,499,526	T527I	probably benign	Het
Clca2	T	A	3: 145,090,847	I200F	probably damaging	Het
Cmas	G	A	6: 142,770,586	D251N	probably damaging	Het
Ctcfl	G	T	2: 173,118,475	A105E	probably benign	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dctn6	A	T	8: 34,090,808	I170N	probably damaging	Het
Dnah2	T	C	11: 69,431,094	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,591,931	V465I	possibly damaging	Het
Dzip1	T	C	14: 118,885,646	T646A	probably benign	Het
Etv4	T	A	11: 101,784,325		probably null	Het
Exoc3l2	T	C	7: 19,484,703	V549A	unknown	Het
Ficd	G	T	5: 113,738,819	A352S	probably damaging	Het
Fry	T	G	5: 150,466,786	I179S		Het
Galntl5	A	G	5: 25,195,300	H109R	probably benign	Het
Garem1	C	A	18: 21,148,754	G182W	probably damaging	Het
Gm10696	T	C	3: 94,176,360	E48G	probably benign	Het
Gm13078	T	A	4: 143,726,279	D93E	probably benign	Het
Gm5916	A	T	9: 36,120,989	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,479,201	F271I	probably benign	Het
Hivep2	G	T	10: 14,129,101	S481I	probably benign	Het
Homez	T	A	14: 54,857,420	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,319,896		probably null	Het
Igll1	A	G	16: 16,861,093	S118P	probably damaging	Het
Kif5b	A	G	18: 6,225,340	V230A	probably damaging	Het
Ldlr	T	A	9: 21,745,744	V719E	probably benign	Het
Lsm7	G	A	10: 80,853,731	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,892,238	D90E	probably benign	Het
Mmrn1	A	G	6: 60,976,114	K460E	probably damaging	Het
Myh10	A	C	11: 68,790,689	N1061H	probably damaging	Het
Nepn	A	G	10: 52,400,993	Q275R	probably benign	Het
Noc3l	A	T	19: 38,812,356	D227E	probably benign	Het
Nploc4	G	T	11: 120,428,550	S61R	probably benign	Het
Nr4a2	T	C	2: 57,112,369	Y24C	probably damaging	Het
Nup160	T	A	2: 90,723,355	I1143N	probably damaging	Het
Olfr1097	A	G	2: 86,890,612	S188P	probably damaging	Het
Olfr1234	A	T	2: 89,362,494	Y312N	probably benign	Het
Olfr294	G	T	7: 86,615,665	H327N	probably benign	Het
Olfr895	T	A	9: 38,268,708	M57K	probably damaging	Het
Papola	T	A	12: 105,809,345	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgap1	A	T	1: 54,493,207		probably null	Het
Pitrm1	A	G	13: 6,556,597	H229R	probably damaging	Het
Plcl1	A	G	1: 55,698,218	Q906R	probably benign	Het
Ppfia3	T	C	7: 45,341,743	N1018S	probably benign	Het
Prkd1	A	G	12: 50,388,342	V534A	possibly damaging	Het
Pygm	A	T	19: 6,385,896	I126F	probably benign	Het
Rag1	T	C	2: 101,642,070	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 91,884,518	Q560*	probably null	Het
Rbp3	A	T	14: 33,962,583	I1190F	possibly damaging	Het
Reln	T	C	5: 21,978,923	K1693E	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rsph3a	A	G	17: 7,946,170	T121A	probably benign	Het
Rufy3	A	G	5: 88,614,947	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,672,246	Q3548*	probably null	Het
Sardh	A	T	2: 27,218,812	V637D	probably benign	Het
Spata16	T	C	3: 26,667,867	V179A	probably benign	Het
Tbc1d30	G	A	10: 121,288,965	T319I	probably damaging	Het
Tlr2	T	A	3: 83,837,606	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,252,040		probably null	Het
Vmn1r113	T	A	7: 20,787,445	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,249,866	Y210S	probably damaging	Het
Zbbx	A	T	3: 75,039,898	H670Q	probably benign	Het

Other mutations in Ikzf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Ikzf2	APN	1	69539322	missense	possibly damaging	0.77
IGL01295:Ikzf2	APN	1	69577987	missense	probably benign	0.13
IGL01313:Ikzf2	APN	1	69539430	missense	probably damaging	0.98
IGL01390:Ikzf2	APN	1	69570642	missense	probably damaging	1.00
IGL01862:Ikzf2	APN	1	69538898	missense	probably damaging	0.99
Freefall	UTSW	1	69539097	nonsense	probably null
Wigwam	UTSW	1	69577796	nonsense	probably null
R1079:Ikzf2	UTSW	1	69539105	missense	possibly damaging	0.62
R1368:Ikzf2	UTSW	1	69539315	missense	possibly damaging	0.95
R1661:Ikzf2	UTSW	1	69538814	missense	probably damaging	0.99
R1665:Ikzf2	UTSW	1	69538814	missense	probably damaging	0.99
R1688:Ikzf2	UTSW	1	69542280	missense	possibly damaging	0.77
R1726:Ikzf2	UTSW	1	69548688	missense	probably damaging	1.00
R1829:Ikzf2	UTSW	1	69542287	missense	probably benign	0.34
R1860:Ikzf2	UTSW	1	69570502	missense	probably damaging	1.00
R2507:Ikzf2	UTSW	1	69539288	missense	probably benign	0.11
R4457:Ikzf2	UTSW	1	69684188	unclassified	probably benign
R5633:Ikzf2	UTSW	1	69539097	nonsense	probably null
R5666:Ikzf2	UTSW	1	69577900	missense	probably benign	0.04
R5670:Ikzf2	UTSW	1	69577900	missense	probably benign	0.04
R5836:Ikzf2	UTSW	1	69539387	missense	probably damaging	1.00
R5950:Ikzf2	UTSW	1	69683244	missense	probably damaging	1.00
R6492:Ikzf2	UTSW	1	69539042	missense	probably damaging	1.00
R6758:Ikzf2	UTSW	1	69538900	missense	probably damaging	0.97
R6809:Ikzf2	UTSW	1	69570502	missense	probably damaging	1.00
R6946:Ikzf2	UTSW	1	69577796	nonsense	probably null
R6959:Ikzf2	UTSW	1	69538770	makesense	probably null
R7044:Ikzf2	UTSW	1	69538901	missense	possibly damaging	0.93
R7236:Ikzf2	UTSW	1	69539081	missense	probably benign	0.00
R7488:Ikzf2	UTSW	1	69539385	missense	probably benign	0.45
R7731:Ikzf2	UTSW	1	69539143	missense	possibly damaging	0.94
R7863:Ikzf2	UTSW	1	69570637	missense	possibly damaging	0.96
R8401:Ikzf2	UTSW	1	69539095	missense	probably damaging	1.00
R8401:Ikzf2	UTSW	1	69539096	missense	probably damaging	0.98
R8471:Ikzf2	UTSW	1	69539340	missense	probably benign	0.01
R8724:Ikzf2	UTSW	1	69577941	missense	probably benign	0.00
R8870:Ikzf2	UTSW	1	69683258	missense	possibly damaging	0.87
R9035:Ikzf2	UTSW	1	69539478	nonsense	probably null
R9108:Ikzf2	UTSW	1	69538797	missense	probably damaging	1.00
R9370:Ikzf2	UTSW	1	69538859	missense	probably damaging	1.00
R9524:Ikzf2	UTSW	1	69539178	missense	probably benign	0.00
R9763:Ikzf2	UTSW	1	69548676	missense	possibly damaging	0.70
X0027:Ikzf2	UTSW	1	69577852	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTTTACCATTCGGAAGCC -3'
(R):5'- AAGTGAAGGGCCCTTTGTTC -3'

Sequencing Primer
(F):5'- GAAGCCGGATTCCTCCCTC -3'
(R):5'- GTTCACCAAGAGTACTCCTGAGCTG -3'

Posted On

2019-09-18