Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Ikzf2'

687262

Institutional Source

Beutler Lab

Gene Symbol

Ikzf2

Ensembl Gene

ENSMUSG00000025997

Gene Name

IKAROS family zinc finger 2

Synonyms

A730095J18Rik, Helios, Zfpn1a2

MMRRC Submission

068864-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9035 (G1)

Quality Score

133.008

Status

Validated

Chromosome

Chromosomal Location

69570373-69726404 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 69578637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 291 (R291*)

Ref Sequence

ENSEMBL: ENSMUSP00000027146 (fasta)

Gene Model

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

AlphaFold

P81183

Predicted Effect

probably null
Transcript: ENSMUST00000027146
AA Change: R291*

SMART Domains

Protein: ENSMUSP00000027146
Gene: ENSMUSG00000025997
AA Change: R291*

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
AA Change: R265*

SMART Domains

Protein: ENSMUSP00000141075
Gene: ENSMUSG00000025997
AA Change: R265*

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
AA Change: R219*

SMART Domains

Protein: ENSMUSP00000140069
Gene: ENSMUSG00000025997
AA Change: R219*

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: ENSMUST00000190771
AA Change: R297*

SMART Domains

Protein: ENSMUSP00000139543
Gene: ENSMUSG00000025997
AA Change: R297*

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
AA Change: R217*

SMART Domains

Protein: ENSMUSP00000140043
Gene: ENSMUSG00000025997
AA Change: R217*

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
AA Change: R146*

SMART Domains

Protein: ENSMUSP00000139530
Gene: ENSMUSG00000025997
AA Change: R146*

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: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (90/91)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,021,461 (GRCm39)	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,510,460 (GRCm39)	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,693,167 (GRCm39)		probably null	Het
Bptf	A	G	11: 106,963,842 (GRCm39)	V1784A	probably damaging	Het
Cabs1	T	C	5: 88,128,309 (GRCm39)	V320A	probably damaging	Het
Camta1	A	C	4: 151,229,159 (GRCm39)	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922 (GRCm39)	K466*	probably null	Het
Cdhr1	G	A	14: 36,810,924 (GRCm39)	P279L	possibly damaging	Het
Cenpe	A	G	3: 134,976,572 (GRCm39)	N2393S	probably benign	Het
Cep104	T	C	4: 154,063,462 (GRCm39)	V8A	probably benign	Het
Chaf1a	T	A	17: 56,371,110 (GRCm39)	V665E	probably damaging	Het
Clasp1	T	A	1: 118,431,583 (GRCm39)	D404E	probably damaging	Het
Clnk	G	A	5: 38,907,751 (GRCm39)	T169I	possibly damaging	Het
Cnst	G	A	1: 179,437,587 (GRCm39)	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,162 (GRCm39)	M15K	possibly damaging	Het
Dlgap1	T	A	17: 70,823,855 (GRCm39)	L280Q	possibly damaging	Het
Dll1	T	C	17: 15,588,959 (GRCm39)	K572R	probably benign	Het
Dnai4	T	A	4: 102,905,499 (GRCm39)	K761*	probably null	Het
Dolk	C	A	2: 30,174,542 (GRCm39)	W501L	probably damaging	Het
Ednrb	G	A	14: 104,080,665 (GRCm39)	P83L	probably benign	Het
Edrf1	T	C	7: 133,245,431 (GRCm39)	W190R	probably damaging	Het
Epha5	T	A	5: 84,255,886 (GRCm39)	D468V	probably damaging	Het
Fat2	G	T	11: 55,194,547 (GRCm39)	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,717,041 (GRCm39)	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,758,449 (GRCm39)	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,161,140 (GRCm39)	S557R	probably benign	Het
Gmip	A	T	8: 70,273,298 (GRCm39)	H863L	probably damaging	Het
Grm3	A	T	5: 9,620,464 (GRCm39)	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,566,511 (GRCm39)	P64S	probably benign	Het
Hand1	A	C	11: 57,722,548 (GRCm39)	M22R	probably benign	Het
Ift70b	T	C	2: 75,767,596 (GRCm39)	T386A	probably benign	Het
Igsf21	A	G	4: 139,884,782 (GRCm39)	V58A	probably damaging	Het
Itih4	C	G	14: 30,618,650 (GRCm39)	P687R	probably benign	Het
Kifc3	C	T	8: 95,853,195 (GRCm39)	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,524,010 (GRCm39)	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,518,708 (GRCm39)	R101S	unknown	Het
L3mbtl2	T	A	15: 81,560,744 (GRCm39)		probably benign	Het
Lcor	A	T	19: 41,573,399 (GRCm39)	H718L	probably benign	Het
Lrrc73	T	C	17: 46,565,293 (GRCm39)	I8T	probably damaging	Het
Med19	C	A	2: 84,516,532 (GRCm39)		probably benign	Het
Mgarp	C	T	3: 51,296,264 (GRCm39)	S246N	unknown	Het
Mkrn2	T	C	6: 115,594,681 (GRCm39)	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,926,279 (GRCm39)	R137H	unknown	Het
Myo1g	A	G	11: 6,464,916 (GRCm39)	Y453H	probably damaging	Het
Nacc2	C	A	2: 25,951,605 (GRCm39)	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,725,217 (GRCm39)	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,488,595 (GRCm39)	T580K	probably damaging	Het
Nobox	A	T	6: 43,284,522 (GRCm39)	D41E	probably damaging	Het
Nsd1	A	G	13: 55,393,667 (GRCm39)	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,246,873 (GRCm39)	M370V	probably benign	Het
Olfm5	T	A	7: 103,803,099 (GRCm39)	N455Y	probably damaging	Het
Or2g7	T	C	17: 38,378,179 (GRCm39)	V39A	probably benign	Het
Or4c101	T	A	2: 88,389,863 (GRCm39)	F6I	probably damaging	Het
Or52e19	T	C	7: 102,959,186 (GRCm39)	I86T	probably damaging	Het
Or8g50	G	A	9: 39,648,886 (GRCm39)	M258I	probably benign	Het
Or8k33	T	A	2: 86,384,021 (GRCm39)	Y149F	probably damaging	Het
Pcdhac2	T	C	18: 37,277,758 (GRCm39)	V246A	probably damaging	Het
Pclo	A	T	5: 14,763,192 (GRCm39)	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,573,176 (GRCm39)	Q1910L	probably damaging	Het
Plg	C	A	17: 12,609,107 (GRCm39)	Y137*	probably null	Het
Prkra	T	C	2: 76,460,856 (GRCm39)	I281V	probably benign	Het
Prrc2c	A	C	1: 162,503,295 (GRCm39)	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,279,149 (GRCm39)	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,708,290 (GRCm39)	Q256R	probably benign	Het
Rpp14	T	A	14: 8,083,772 (GRCm38)	Y17N	possibly damaging	Het
Ryr1	A	T	7: 28,790,422 (GRCm39)	H1468Q	probably damaging	Het
Scp2	C	T	4: 107,912,717 (GRCm39)	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,080,381 (GRCm39)	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,782,238 (GRCm39)	S34G	probably benign	Het
Shisa9	T	A	16: 11,802,902 (GRCm39)	I153N	probably damaging	Het
Sin3b	C	A	8: 73,450,092 (GRCm39)	P3H	unknown	Het
Slc15a2	C	A	16: 36,602,719 (GRCm39)	K47N	possibly damaging	Het
Slc30a6	T	A	17: 74,726,586 (GRCm39)	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,909,187 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,476 (GRCm39)	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491 (GRCm39)	Q460K	probably benign	Het
Tlr11	A	T	14: 50,598,434 (GRCm39)	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945 (GRCm39)	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384 (GRCm39)		probably benign	Het
Tnfsf10	G	A	3: 27,389,379 (GRCm39)	D147N	probably benign	Het
Tpm1	A	G	9: 66,955,138 (GRCm39)	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,043,723 (GRCm39)		probably benign	Het
Trmt9b	C	T	8: 36,978,954 (GRCm39)	R186*	probably null	Het
Ttn	T	C	2: 76,593,061 (GRCm39)	T20730A	possibly damaging	Het
Uap1	A	T	1: 169,977,013 (GRCm39)	Y395*	probably null	Het
Usp2	A	T	9: 43,987,176 (GRCm39)	D158V	probably damaging	Het
Usp30	A	G	5: 114,243,877 (GRCm39)	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,024,172 (GRCm39)	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,261,479 (GRCm39)	V286A	probably benign	Het
Xdh	T	C	17: 74,217,222 (GRCm39)	H682R	probably benign	Het
Zbed3	T	A	13: 95,472,999 (GRCm39)	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,820,162 (GRCm39)	C373R	possibly damaging	Het

Other mutations in Ikzf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Ikzf2	APN	1	69,578,481 (GRCm39)	missense	possibly damaging	0.77
IGL01295:Ikzf2	APN	1	69,617,146 (GRCm39)	missense	probably benign	0.13
IGL01313:Ikzf2	APN	1	69,578,589 (GRCm39)	missense	probably damaging	0.98
IGL01390:Ikzf2	APN	1	69,609,801 (GRCm39)	missense	probably damaging	1.00
IGL01862:Ikzf2	APN	1	69,578,057 (GRCm39)	missense	probably damaging	0.99
Freefall	UTSW	1	69,578,256 (GRCm39)	nonsense	probably null
Wigwam	UTSW	1	69,616,955 (GRCm39)	nonsense	probably null
R1079:Ikzf2	UTSW	1	69,578,264 (GRCm39)	missense	possibly damaging	0.62
R1368:Ikzf2	UTSW	1	69,578,474 (GRCm39)	missense	possibly damaging	0.95
R1661:Ikzf2	UTSW	1	69,577,973 (GRCm39)	missense	probably damaging	0.99
R1665:Ikzf2	UTSW	1	69,577,973 (GRCm39)	missense	probably damaging	0.99
R1688:Ikzf2	UTSW	1	69,581,439 (GRCm39)	missense	possibly damaging	0.77
R1726:Ikzf2	UTSW	1	69,587,847 (GRCm39)	missense	probably damaging	1.00
R1829:Ikzf2	UTSW	1	69,581,446 (GRCm39)	missense	probably benign	0.34
R1860:Ikzf2	UTSW	1	69,609,661 (GRCm39)	missense	probably damaging	1.00
R2507:Ikzf2	UTSW	1	69,578,447 (GRCm39)	missense	probably benign	0.11
R4457:Ikzf2	UTSW	1	69,723,347 (GRCm39)	unclassified	probably benign
R5633:Ikzf2	UTSW	1	69,578,256 (GRCm39)	nonsense	probably null
R5666:Ikzf2	UTSW	1	69,617,059 (GRCm39)	missense	probably benign	0.04
R5670:Ikzf2	UTSW	1	69,617,059 (GRCm39)	missense	probably benign	0.04
R5836:Ikzf2	UTSW	1	69,578,546 (GRCm39)	missense	probably damaging	1.00
R5950:Ikzf2	UTSW	1	69,722,403 (GRCm39)	missense	probably damaging	1.00
R6492:Ikzf2	UTSW	1	69,578,201 (GRCm39)	missense	probably damaging	1.00
R6758:Ikzf2	UTSW	1	69,578,059 (GRCm39)	missense	probably damaging	0.97
R6809:Ikzf2	UTSW	1	69,609,661 (GRCm39)	missense	probably damaging	1.00
R6946:Ikzf2	UTSW	1	69,616,955 (GRCm39)	nonsense	probably null
R6959:Ikzf2	UTSW	1	69,577,929 (GRCm39)	makesense	probably null
R7044:Ikzf2	UTSW	1	69,578,060 (GRCm39)	missense	possibly damaging	0.93
R7236:Ikzf2	UTSW	1	69,578,240 (GRCm39)	missense	probably benign	0.00
R7256:Ikzf2	UTSW	1	69,617,212 (GRCm39)	splice site	probably null
R7488:Ikzf2	UTSW	1	69,578,544 (GRCm39)	missense	probably benign	0.45
R7731:Ikzf2	UTSW	1	69,578,302 (GRCm39)	missense	possibly damaging	0.94
R7863:Ikzf2	UTSW	1	69,609,796 (GRCm39)	missense	possibly damaging	0.96
R8401:Ikzf2	UTSW	1	69,578,255 (GRCm39)	missense	probably damaging	0.98
R8401:Ikzf2	UTSW	1	69,578,254 (GRCm39)	missense	probably damaging	1.00
R8471:Ikzf2	UTSW	1	69,578,499 (GRCm39)	missense	probably benign	0.01
R8724:Ikzf2	UTSW	1	69,617,100 (GRCm39)	missense	probably benign	0.00
R8870:Ikzf2	UTSW	1	69,722,417 (GRCm39)	missense	possibly damaging	0.87
R9108:Ikzf2	UTSW	1	69,577,956 (GRCm39)	missense	probably damaging	1.00
R9370:Ikzf2	UTSW	1	69,578,018 (GRCm39)	missense	probably damaging	1.00
R9524:Ikzf2	UTSW	1	69,578,337 (GRCm39)	missense	probably benign	0.00
R9763:Ikzf2	UTSW	1	69,587,835 (GRCm39)	missense	possibly damaging	0.70
X0027:Ikzf2	UTSW	1	69,617,011 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATAACTGGGGCCACCTCAG -3'
(R):5'- GGTCACATACCTGAGCATCTC -3'

Sequencing Primer
(F):5'- CACCTCAGCGATTGTGCTTGG -3'
(R):5'- CTAAAGGGCCCAGACACTTG -3'

Posted On

2021-11-19