Mutagenetix > Incidental Mutation

Incidental Mutation 'R2507:Ikzf2'

251258

Institutional Source

Beutler Lab

Gene Symbol

Ikzf2

Ensembl Gene

ENSMUSG00000025997

Gene Name

IKAROS family zinc finger 2

Synonyms

A730095J18Rik, Helios, Zfpn1a2

MMRRC Submission

040413-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2507 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69570373-69726404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69578447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 282 (A282V)

Ref Sequence

ENSEMBL: ENSMUSP00000140069 (fasta)

Gene Model

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

AlphaFold

P81183

Predicted Effect

probably benign
Transcript: ENSMUST00000027146
AA Change: A354V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027146
Gene: ENSMUSG00000025997
AA Change: A354V

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

noncoding transcript
Transcript: ENSMUST00000187100

Predicted Effect

probably benign
Transcript: ENSMUST00000187184
AA Change: A328V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141075
Gene: ENSMUSG00000025997
AA Change: A328V

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 benign
Transcript: ENSMUST00000188110
AA Change: A282V

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140069
Gene: ENSMUSG00000025997
AA Change: A282V

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 benign
Transcript: ENSMUST00000190771
AA Change: A360V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139543
Gene: ENSMUSG00000025997
AA Change: A360V

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 benign
Transcript: ENSMUST00000190855
AA Change: A280V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140043
Gene: ENSMUSG00000025997
AA Change: A280V

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
AA Change: A209V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139530
Gene: ENSMUSG00000025997
AA Change: A209V

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,497,681 (GRCm39)		probably benign	Het
4930535I16Rik	G	A	4: 123,811,740 (GRCm39)		probably benign	Het
Akr1b1	C	T	6: 34,286,999 (GRCm39)	E186K	probably damaging	Het
Apc	A	T	18: 34,449,590 (GRCm39)	N2128I	possibly damaging	Het
Api5	T	C	2: 94,260,162 (GRCm39)	I31M	probably damaging	Het
Armcx4	T	G	X: 133,596,128 (GRCm39)	V2012G	possibly damaging	Het
Aurka	T	C	2: 172,212,365 (GRCm39)	E4G	probably benign	Het
B4galt5	T	A	2: 167,148,558 (GRCm39)	M187L	probably benign	Het
Bsn	T	C	9: 107,993,313 (GRCm39)	D813G	probably damaging	Het
Bub1	A	T	2: 127,643,343 (GRCm39)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,492,687 (GRCm39)		probably null	Het
Cdh6	A	G	15: 13,041,447 (GRCm39)	I539T	probably benign	Het
Cdhr3	T	C	12: 33,088,914 (GRCm39)	D756G	probably benign	Het
Cenph	A	T	13: 100,907,744 (GRCm39)	D85E	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clec2h	A	G	6: 128,650,945 (GRCm39)	N75S	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,029 (GRCm39)	V51E	possibly damaging	Het
Cpne3	A	T	4: 19,553,871 (GRCm39)	N53K	probably damaging	Het
Cpt1b	A	G	15: 89,303,301 (GRCm39)	F585L	probably benign	Het
Daam1	G	A	12: 72,021,997 (GRCm39)	D732N	probably damaging	Het
Dner	A	T	1: 84,560,801 (GRCm39)	C115S	probably damaging	Het
Dop1a	T	A	9: 86,395,170 (GRCm39)	F759Y	probably damaging	Het
Dst	T	C	1: 34,050,990 (GRCm39)	Y29H	probably damaging	Het
Dst	T	C	1: 34,227,498 (GRCm39)	V1875A	possibly damaging	Het
Duox1	A	G	2: 122,163,619 (GRCm39)	D817G	probably benign	Het
Emc2	A	T	15: 43,375,094 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,404,296 (GRCm39)	E51V	probably null	Het
Exoc2	A	G	13: 31,066,348 (GRCm39)	Y443H	possibly damaging	Het
Fbf1	T	C	11: 116,046,252 (GRCm39)	R200G	probably benign	Het
Fdxr	G	A	11: 115,162,806 (GRCm39)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,452,610 (GRCm39)	P41A	probably damaging	Het
Galnt4	A	G	10: 98,945,148 (GRCm39)	K291R	possibly damaging	Het
Gm12695	T	A	4: 96,642,426 (GRCm39)	E301V	probably damaging	Het
Gopc	C	T	10: 52,229,422 (GRCm39)		probably null	Het
Gria1	A	T	11: 57,180,146 (GRCm39)	T699S	probably null	Het
Gsr	T	G	8: 34,170,316 (GRCm39)	D200E	probably benign	Het
Irak2	T	C	6: 113,624,639 (GRCm39)	I45T	probably damaging	Het
Irx1	T	C	13: 72,107,939 (GRCm39)	K248E	probably damaging	Het
Kcns3	A	C	12: 11,142,087 (GRCm39)	V204G	possibly damaging	Het
Lmo1	C	A	7: 108,739,848 (GRCm39)	M91I	probably damaging	Het
Map3k21	A	G	8: 126,666,677 (GRCm39)	D623G	possibly damaging	Het
Map4	A	G	9: 109,866,551 (GRCm39)		probably benign	Het
Mark3	T	A	12: 111,593,676 (GRCm39)	V236E	probably damaging	Het
Med23	A	G	10: 24,786,711 (GRCm39)	D939G	probably damaging	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
N4bp2	T	A	5: 65,947,404 (GRCm39)	D11E	probably benign	Het
Ntng2	T	C	2: 29,097,531 (GRCm39)	N310S	probably damaging	Het
Or10ak7	T	C	4: 118,791,122 (GRCm39)	M308V	probably benign	Het
Or6b3	A	G	1: 92,439,100 (GRCm39)	S217P	probably damaging	Het
Pcolce	A	G	5: 137,605,313 (GRCm39)	V260A	possibly damaging	Het
Pds5b	C	A	5: 150,679,893 (GRCm39)	T533K	possibly damaging	Het
Pecr	A	G	1: 72,301,135 (GRCm39)	Y268H	probably benign	Het
Phax	T	A	18: 56,719,956 (GRCm39)	F299Y	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pramel32	T	A	4: 88,547,448 (GRCm39)	K161N	possibly damaging	Het
Prpf39	T	A	12: 65,104,589 (GRCm39)	F551L	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ralgapa1	G	A	12: 55,764,986 (GRCm39)	P889S	probably damaging	Het
Rpap1	A	G	2: 119,610,535 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,797,757 (GRCm39)	S645P	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Spata7	G	T	12: 98,624,709 (GRCm39)	A172S	probably benign	Het
Stk35	A	G	2: 129,643,435 (GRCm39)	T140A	probably damaging	Het
Thop1	T	G	10: 80,906,098 (GRCm39)	M1R	probably null	Het
Tlr1	T	C	5: 65,082,639 (GRCm39)	Y646C	probably damaging	Het
Tpp2	A	G	1: 44,040,609 (GRCm39)	Y290C	probably benign	Het
Tpr	A	G	1: 150,268,695 (GRCm39)	M1V	probably null	Het
Trim6	T	C	7: 103,877,392 (GRCm39)	F161L	probably damaging	Het
Ubash3b	T	C	9: 41,068,650 (GRCm39)	K25E	possibly damaging	Het
Unc45b	G	A	11: 82,830,963 (GRCm39)		probably null	Het
Unc80	A	G	1: 66,651,266 (GRCm39)	N1537S	possibly damaging	Het
Usb1	T	C	8: 96,069,752 (GRCm39)	F100S	probably damaging	Het
Vmn1r17	C	A	6: 57,338,244 (GRCm39)	L40F	probably damaging	Het
Vmn1r233	A	T	17: 21,214,110 (GRCm39)	M280K	probably benign	Het
Zfp37	A	T	4: 62,109,493 (GRCm39)	C524S	probably damaging	Het
Zfp426	T	C	9: 20,381,727 (GRCm39)	K420R	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
R1860:Ikzf2	UTSW	1	69,609,661 (GRCm39)	missense	probably damaging	1.00
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'- TAGGACTGGCGGTCATCATG -3'
(R):5'- AAAAGCTTATGCGATTCAGCTACC -3'

Sequencing Primer
(F):5'- GGCTACTTTCTGAGTCAGTAGAATC -3'
(R):5'- ATGCGATTCAGCTACCCAGATATTC -3'

Posted On

2014-12-04