Mutagenetix > Incidental Mutation

Incidental Mutation 'R1860:Ikzf2'

203760

Institutional Source

Beutler Lab

Gene Symbol

Ikzf2

Ensembl Gene

ENSMUSG00000025997

Gene Name

IKAROS family zinc finger 2

Synonyms

A730095J18Rik, Helios, Zfpn1a2

MMRRC Submission

039883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69570373-69726404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69609661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 195 (T195A)

Ref Sequence

ENSEMBL: ENSMUSP00000139543 (fasta)

Gene Model

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

AlphaFold

P81183

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027146
AA Change: T189A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027146
Gene: ENSMUSG00000025997
AA Change: T189A

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

possibly damaging
Transcript: ENSMUST00000187184
AA Change: T163A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141075
Gene: ENSMUSG00000025997
AA Change: T163A

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

possibly damaging
Transcript: ENSMUST00000188110
AA Change: T163A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140069
Gene: ENSMUSG00000025997
AA Change: T163A

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 damaging
Transcript: ENSMUST00000190771
AA Change: T195A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139543
Gene: ENSMUSG00000025997
AA Change: T195A

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 damaging
Transcript: ENSMUST00000190855
AA Change: T163A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140043
Gene: ENSMUSG00000025997
AA Change: T163A

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 benign
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

Meta Mutation Damage Score

0.5163

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,098 (GRCm39)	C587R	probably damaging	Het
Abca16	T	A	7: 120,133,986 (GRCm39)	S1320T	probably benign	Het
Abra	C	A	15: 41,732,430 (GRCm39)	R212L	probably damaging	Het
Acadsb	T	A	7: 131,045,958 (GRCm39)		probably null	Het
Adam26a	A	G	8: 44,022,578 (GRCm39)	V304A	possibly damaging	Het
Adgre1	T	C	17: 57,748,363 (GRCm39)	V521A	probably benign	Het
Adh5	G	A	3: 138,159,539 (GRCm39)	V288I	probably benign	Het
Astn1	A	C	1: 158,429,515 (GRCm39)	N753T	probably damaging	Het
Atad2	A	T	15: 57,960,114 (GRCm39)		probably null	Het
Best3	A	G	10: 116,829,178 (GRCm39)	T153A	probably damaging	Het
Ccdc122	G	A	14: 77,348,847 (GRCm39)	V226I	probably damaging	Het
Ccdc175	T	C	12: 72,152,700 (GRCm39)	Q735R	probably benign	Het
Cd19	T	A	7: 126,008,813 (GRCm39)	I499F	probably damaging	Het
Cftr	T	A	6: 18,268,288 (GRCm39)	L749H	probably benign	Het
Clec2h	G	T	6: 128,652,790 (GRCm39)	G186W	probably damaging	Het
Cpsf3	T	A	12: 21,346,733 (GRCm39)	I202N	probably damaging	Het
Crebbp	G	T	16: 3,905,600 (GRCm39)	T1669N	possibly damaging	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Cul4a	G	A	8: 13,173,565 (GRCm39)	R204Q	probably damaging	Het
Derl2	A	G	11: 70,909,169 (GRCm39)	F43S	probably damaging	Het
Dnah14	T	A	1: 181,591,525 (GRCm39)	N3348K	probably damaging	Het
Dnhd1	T	C	7: 105,353,412 (GRCm39)	V2855A	probably benign	Het
Dpysl4	G	T	7: 138,670,215 (GRCm39)	C27F	probably benign	Het
Fam228b	G	A	12: 4,798,314 (GRCm39)	A163V	probably damaging	Het
Fscn1	T	C	5: 142,955,818 (GRCm39)		probably null	Het
Fzd5	C	A	1: 64,774,153 (GRCm39)	R536L	probably damaging	Het
Gm8180	T	A	14: 44,021,196 (GRCm39)	H4L	probably benign	Het
Gpr176	T	A	2: 118,203,659 (GRCm39)	N4Y	probably damaging	Het
Grin3a	T	C	4: 49,665,309 (GRCm39)	I1109V	possibly damaging	Het
Hcar1	T	A	5: 124,017,092 (GRCm39)	I200F	probably damaging	Het
Heatr4	G	A	12: 84,026,502 (GRCm39)	Q252*	probably null	Het
Hps1	G	A	19: 42,750,888 (GRCm39)	H371Y	probably damaging	Het
Kdm1b	G	A	13: 47,202,666 (GRCm39)	A34T	probably benign	Het
Lef1	A	G	3: 130,905,290 (GRCm39)	N57S	probably damaging	Het
Ltn1	A	T	16: 87,213,231 (GRCm39)	D443E	probably benign	Het
Macroh2a1	A	G	13: 56,231,017 (GRCm39)	L287P	probably damaging	Het
Mamdc2	T	C	19: 23,336,517 (GRCm39)	T331A	probably damaging	Het
Marchf10	A	T	11: 105,287,904 (GRCm39)	S133T	probably damaging	Het
Mb	A	G	15: 76,901,784 (GRCm39)	Y104H	probably damaging	Het
Mrc1	C	A	2: 14,333,390 (GRCm39)	P1357Q	probably benign	Het
Nfib	C	T	4: 82,241,917 (GRCm39)	V425M	probably damaging	Het
Or12j2	G	A	7: 139,916,132 (GRCm39)	R119H	possibly damaging	Het
Or4a27	T	G	2: 88,559,674 (GRCm39)	I90L	probably damaging	Het
Or4b1b	C	A	2: 90,112,502 (GRCm39)	C139F	probably damaging	Het
Or4c127	G	A	2: 89,833,490 (GRCm39)	V247I	probably benign	Het
Or4n4	A	T	14: 50,518,848 (GRCm39)	Y287*	probably null	Het
Or52u1	T	C	7: 104,237,112 (GRCm39)	S34P	probably damaging	Het
Or5b113	T	A	19: 13,342,705 (GRCm39)	S238T	possibly damaging	Het
Or5p53	A	G	7: 107,533,597 (GRCm39)	Y290C	probably damaging	Het
Or6c208	T	C	10: 129,223,955 (GRCm39)	F151S	probably damaging	Het
Or8b51	A	T	9: 38,569,661 (GRCm39)	V9E	probably damaging	Het
Phaf1	A	G	8: 105,966,703 (GRCm39)	E150G	probably null	Het
Piezo1	T	C	8: 123,222,489 (GRCm39)	N919S	possibly damaging	Het
Prkaca	T	C	8: 84,707,852 (GRCm39)	S46P	probably benign	Het
Prkcb	T	G	7: 122,167,424 (GRCm39)	V378G	probably damaging	Het
Ptprf	A	T	4: 118,081,129 (GRCm39)	L576Q	probably damaging	Het
Rapgef4	T	C	2: 72,065,064 (GRCm39)	V687A	probably benign	Het
Rsad2	C	T	12: 26,500,616 (GRCm39)	V224I	probably damaging	Het
Ryr1	A	T	7: 28,708,977 (GRCm39)	D4796E	unknown	Het
Scn1a	C	T	2: 66,148,326 (GRCm39)	S1073N	probably damaging	Het
Slc26a3	A	G	12: 31,515,845 (GRCm39)	M582V	probably benign	Het
Tbc1d32	A	T	10: 55,999,633 (GRCm39)	Y846*	probably null	Het
Tbk1	A	T	10: 121,383,076 (GRCm39)	M719K	probably benign	Het
Timeless	A	G	10: 128,081,983 (GRCm39)	K536R	probably benign	Het
Tle6	G	T	10: 81,430,163 (GRCm39)	Q330K	probably damaging	Het
Tmem208	A	G	8: 106,061,438 (GRCm39)	K155E	possibly damaging	Het
Toe1	T	C	4: 116,662,426 (GRCm39)	Y273C	probably damaging	Het
Tppp2	A	C	14: 52,158,062 (GRCm39)	N169T	probably benign	Het
Ttll6	T	A	11: 96,029,700 (GRCm39)	Y204*	probably null	Het
Ubxn11	G	A	4: 133,852,149 (GRCm39)	S32N	probably damaging	Het
Usp8	G	A	2: 126,597,960 (GRCm39)	C961Y	probably damaging	Het
Vdac3	A	T	8: 23,070,515 (GRCm39)	I132K	possibly damaging	Het
Vmn2r124	G	T	17: 18,269,759 (GRCm39)	W5L	probably benign	Het
Vmn2r71	A	T	7: 85,264,782 (GRCm39)	D38V	probably damaging	Het
Vmn2r87	C	T	10: 130,315,755 (GRCm39)	V104I	probably benign	Het
Vmn2r97	C	T	17: 19,167,648 (GRCm39)	T634I	probably benign	Het
Vps50	T	C	6: 3,520,279 (GRCm39)		probably null	Het
Wwc2	T	C	8: 48,443,137 (GRCm39)	N32S	possibly damaging	Het
Ythdc2	T	A	18: 45,006,023 (GRCm39)	I1172K	possibly damaging	Het
Zfp14	C	T	7: 29,738,116 (GRCm39)	V290M	probably damaging	Het
Zfp317	G	A	9: 19,553,280 (GRCm39)	A18T	possibly damaging	Het
Zfp354b	A	T	11: 50,814,369 (GRCm39)	N185K	probably benign	Het
Zscan21	T	A	5: 138,124,892 (GRCm39)	D269E	probably benign	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
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
R9035:Ikzf2	UTSW	1	69,578,637 (GRCm39)	nonsense	probably null
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'- AAGACACTCTTCCACGGCAG -3'
(R):5'- GGGCAAATCCTTCCCTTATAATAACC -3'

Sequencing Primer
(F):5'- GGCAGGGCCTCTTTTTAAGCC -3'
(R):5'- CCTTCCCTTATAATAACCAGTTTGG -3'

Posted On

2014-06-23