Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Ikzf1'

597741

Institutional Source

Beutler Lab

Gene Symbol

Ikzf1

Ensembl Gene

ENSMUSG00000018654

Gene Name

IKAROS family zinc finger 1

Synonyms

LyF-1, 5832432G11Rik, Zfpn1a1, Ikaros

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11685003-11772926 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11769256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 408 (I408N)

Ref Sequence

ENSEMBL: ENSMUSP00000075992 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000018798
AA Change: I321N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018798
Gene: ENSMUSG00000018654
AA Change: I321N

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 damaging
Transcript: ENSMUST00000065433
AA Change: I428N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067372
Gene: ENSMUSG00000018654
AA Change: I428N

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 damaging
Transcript: ENSMUST00000076700
AA Change: I408N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075992
Gene: ENSMUSG00000018654
AA Change: I408N

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

Coding Region Coverage

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

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,864,650	G215V	probably benign	Het
Adamts1	C	A	16: 85,797,795	G652C	probably damaging	Het
Adck1	G	A	12: 88,402,117	A122T	possibly damaging	Het
Akap1	A	C	11: 88,845,833	M34R	probably damaging	Het
Apc2	C	T	10: 80,311,196	R695C	probably damaging	Het
Apon	T	A	10: 128,254,515	W21R	probably benign	Het
Arhgef16	T	C	4: 154,286,975	T254A	probably benign	Het
Arid5b	T	A	10: 68,097,802	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,016,785	I122L	possibly damaging	Het
Bckdhb	T	G	9: 84,010,326	V270G	probably damaging	Het
Cacna1d	A	G	14: 30,099,188	Y1146H	probably benign	Het
Carmil2	A	G	8: 105,697,036	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,107,931	V636A	probably benign	Het
Chd9	T	C	8: 90,977,550		probably null	Het
Csmd3	A	G	15: 47,698,173	S1336P		Het
Cubn	A	G	2: 13,348,150	Y1926H	probably damaging	Het
Ddx58	C	A	4: 40,225,104	A298S	probably damaging	Het
Dock4	A	T	12: 40,817,736	D1437V	probably damaging	Het
Eme1	A	T	11: 94,645,840	Y504*	probably null	Het
Enah	G	A	1: 181,918,444	A687V	unknown	Het
Endou	A	C	15: 97,713,866	V339G	probably damaging	Het
Ephb6	G	A	6: 41,614,605	R232H	probably benign	Het
Ephx2	G	A	14: 66,089,519	A409V	possibly damaging	Het
Esd	T	A	14: 74,745,567	C219*	probably null	Het
Fscb	A	T	12: 64,474,092	M200K	probably benign	Het
Gabra6	A	T	11: 42,317,681	V108D	probably damaging	Het
Gm11555	A	G	11: 99,649,742	V137A	unknown	Het
Gpld1	A	G	13: 24,962,400	D209G	probably damaging	Het
Itgb4	A	G	11: 116,003,710	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,678,944	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,363,593	W440R	probably benign	Het
Mtrr	C	T	13: 68,570,027	E373K	probably damaging	Het
Mug2	T	A	6: 122,081,358	V1293E	probably damaging	Het
Myof	C	A	19: 37,939,898	A1068S	probably benign	Het
Ncam2	A	G	16: 81,615,784	D720G	probably damaging	Het
Nova2	G	T	7: 18,958,251	G435V		Het
Oacyl	T	A	18: 65,710,560	D109E	probably damaging	Het
Olfr1393	A	T	11: 49,280,636	M163L	probably benign	Het
Olfr684	G	A	7: 105,157,025	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,299,926	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,904,113	D364E	probably benign	Het
Rp1	T	C	1: 4,344,884	N2002D	probably benign	Het
Sall1	C	T	8: 89,042,351		probably null	Het
Scn10a	C	T	9: 119,648,132	W728*	probably null	Het
Setdb2	G	T	14: 59,419,364	T168K	probably damaging	Het
Sgms1	T	C	19: 32,159,876	I97V	probably benign	Het
Slc8a3	A	T	12: 81,314,551	M498K	probably benign	Het
Smpd4	A	T	16: 17,638,633	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,937,530	K881*	probably null	Het
Strn4	A	G	7: 16,830,384	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,893,927	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,624,839	R1773S	probably benign	Het
Thbs2	T	C	17: 14,677,059	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,670,835	T135I	probably damaging	Het
Tollip	A	G	7: 141,884,539	M218T	probably benign	Het
Tyk2	A	T	9: 21,120,258		probably null	Het
Ubr2	G	A	17: 46,986,048	R269C	probably damaging	Het
Uggt1	A	T	1: 36,146,725	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,334,080	V929A	probably benign	Het
Usp48	T	C	4: 137,594,452	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,034,461	E42K	not run	Het
Vmn1r83	G	T	7: 12,321,433	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,823,380	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,556,570	I281T	probably damaging	Het
Ywhag	A	T	5: 135,911,189	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,308,376	E1971D	possibly damaging	Het
Zfp568	G	A	7: 30,023,414	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083	D248G	probably benign	Het

Other mutations in Ikzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Ikzf1	APN	11	11768923	missense	probably damaging	1.00
IGL01367:Ikzf1	APN	11	11748358	missense	probably benign	0.04
IGL01823:Ikzf1	APN	11	11769091	missense	possibly damaging	0.64
IGL02342:Ikzf1	APN	11	11700216	utr 5 prime	probably benign
IGL02452:Ikzf1	APN	11	11748545	missense	probably damaging	1.00
IGL03209:Ikzf1	APN	11	11700226	missense	probably benign
IGL03236:Ikzf1	APN	11	11707848	missense	probably damaging	1.00
Herrscher	UTSW	11	11768961	nonsense	probably null
Star_lord	UTSW	11	11769448	missense	probably damaging	1.00
waxwing	UTSW	11	11748464	nonsense	probably null
R0133:Ikzf1	UTSW	11	11741015	splice site	probably null
R0417:Ikzf1	UTSW	11	11769352	missense	probably benign	0.19
R0633:Ikzf1	UTSW	11	11769223	missense	probably damaging	1.00
R0734:Ikzf1	UTSW	11	11758195	missense	probably damaging	1.00
R1693:Ikzf1	UTSW	11	11707838	missense	probably damaging	1.00
R2114:Ikzf1	UTSW	11	11769473	missense	probably damaging	1.00
R2927:Ikzf1	UTSW	11	11769324	missense	probably damaging	1.00
R4250:Ikzf1	UTSW	11	11754166	missense	probably damaging	1.00
R5156:Ikzf1	UTSW	11	11769448	missense	probably damaging	1.00
R5912:Ikzf1	UTSW	11	11748464	nonsense	probably null
R6274:Ikzf1	UTSW	11	11768961	nonsense	probably null
R7614:Ikzf1	UTSW	11	11769019	missense	probably damaging	1.00
R7727:Ikzf1	UTSW	11	11748339	missense	probably damaging	1.00
R8758:Ikzf1	UTSW	11	11761359	missense	probably benign	0.03
R8946:Ikzf1	UTSW	11	11769485	missense	possibly damaging	0.86
R8998:Ikzf1	UTSW	11	11685013	start gained	probably benign
R8999:Ikzf1	UTSW	11	11685013	start gained	probably benign
R9624:Ikzf1	UTSW	11	11769219	missense	probably damaging	1.00
Z1176:Ikzf1	UTSW	11	11758194	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCATCAGCTCCATGTACCAGC -3'
(R):5'- TACATGACGTGATCCAGGAAG -3'

Sequencing Primer
(F):5'- GCTCCATGTACCAGCTGCAC -3'
(R):5'- TGATCCAGGAAGAGCACGC -3'

Posted On

2019-11-26