Mutagenetix > Incidental Mutations

Incidental Mutation 'R0456:Ikzf4'

40035

Institutional Source

Beutler Lab

Gene Symbol

Ikzf4

Ensembl Gene

ENSMUSG00000002578

Gene Name

IKAROS family zinc finger 4

Synonyms

Eos, Zfpn1a4, A630026H08Rik

MMRRC Submission

038656-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128630843-128645991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128635808 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 274 (T274S)

Ref Sequence

ENSEMBL: ENSMUSP00000152234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133342] [ENSMUST00000221150] [ENSMUST00000222067] [ENSMUST00000223162]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065334
AA Change: T327S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: T327S

Domain	Start	End	E-Value	Type
ZnF_C2H2	159	181	7.67e-2	SMART
ZnF_C2H2	187	209	1.72e-4	SMART
ZnF_C2H2	215	237	1.72e-4	SMART
ZnF_C2H2	248	271	1.18e-2	SMART
low complexity region	423	436	N/A	INTRINSIC
low complexity region	475	484	N/A	INTRINSIC
ZnF_C2H2	531	553	7.49e0	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000113478
Gene: ENSMUSG00000002578
AA Change: T274S

Domain	Start	End	E-Value	Type
ZnF_C2H2	106	128	7.67e-2	SMART
ZnF_C2H2	134	156	1.72e-4	SMART
ZnF_C2H2	162	184	1.72e-4	SMART
ZnF_C2H2	195	218	1.18e-2	SMART
low complexity region	370	383	N/A	INTRINSIC
low complexity region	422	431	N/A	INTRINSIC
ZnF_C2H2	478	500	7.49e0	SMART
ZnF_C2H2	506	530	3.52e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000133342
AA Change: T327S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: T327S

Domain	Start	End	E-Value	Type
ZnF_C2H2	159	181	7.67e-2	SMART
ZnF_C2H2	187	209	1.72e-4	SMART
ZnF_C2H2	215	237	1.72e-4	SMART
ZnF_C2H2	248	271	1.18e-2	SMART
low complexity region	423	436	N/A	INTRINSIC
low complexity region	475	484	N/A	INTRINSIC
ZnF_C2H2	531	553	7.49e0	SMART
ZnF_C2H2	559	583	3.52e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000221150
AA Change: T327S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222067
AA Change: T274S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000222901

Predicted Effect

probably benign
Transcript: ENSMUST00000223162

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,295,979	P11L	probably damaging	Het
Antxr1	A	C	6: 87,217,275	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,232,740	N1127D	probably benign	Het
Bivm	T	A	1: 44,126,809	W140R	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,760,851	V928A	possibly damaging	Het
Chia1	T	C	3: 106,128,479	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,176,478	I268F	probably damaging	Het
CK137956	A	T	4: 127,945,307	N439K	probably damaging	Het
Csf3r	C	A	4: 126,035,861	N392K	probably damaging	Het
Cyp1b1	T	C	17: 79,710,275	I484V	probably benign	Het
Dsc1	T	C	18: 20,099,112	K280E	probably damaging	Het
Eefsec	A	G	6: 88,297,888	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843		probably null	Het
Erap1	G	A	13: 74,664,220	V385I	probably benign	Het
Fat1	A	T	8: 45,029,534	I3077F	probably damaging	Het
Fras1	G	T	5: 96,554,788	G230C	probably damaging	Het
Fras1	T	G	5: 96,714,343		probably null	Het
Gsg1l	A	G	7: 125,923,510	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,158,322	V60A	probably damaging	Het
Hapln4	A	T	8: 70,084,995	Y113F	probably benign	Het
Hist1h4f	T	C	13: 23,551,387	D86G	probably damaging	Het
Kansl1l	T	A	1: 66,735,726	H302L	probably damaging	Het
Klhl41	T	C	2: 69,670,549	V118A	probably damaging	Het
Kpna1	T	C	16: 36,002,900	S41P	possibly damaging	Het
Krt23	A	G	11: 99,486,778	V134A	probably benign	Het
Lamb1	G	A	12: 31,304,730	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,731,778	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,104	S171P	probably damaging	Het
Lvrn	G	A	18: 46,864,816		probably null	Het
Matr3	T	A	18: 35,572,864	F281I	probably damaging	Het
Nxn	G	A	11: 76,263,137	Q291*	probably null	Het
Olfr1467	A	G	19: 13,364,738	T37A	probably damaging	Het
Pdp2	G	T	8: 104,593,789	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,733,891	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,522,579	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,389,793		probably null	Het
Ptpro	G	T	6: 137,414,230	V783L	probably benign	Het
Rab40c	A	G	17: 25,884,657	V144A	possibly damaging	Het
Rasal2	T	C	1: 157,149,843	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,647,523	S103C	possibly damaging	Het
Rgl2	A	G	17: 33,936,849		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rit2	A	T	18: 30,975,451	F160L	probably benign	Het
Rnh1	A	G	7: 141,162,548	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,791,466	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,259,656	I505F	probably benign	Het
Sorcs3	A	T	19: 48,654,044	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,578,634	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,381,855	S456T	probably benign	Het
Syne1	T	C	10: 5,342,252	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,803,391	N164S	probably benign	Het
Tigd3	A	G	19: 5,892,793	L103P	probably damaging	Het
Tldc1	A	T	8: 119,768,423	F199I	probably damaging	Het
Tmem132b	T	C	5: 125,787,724	S965P	probably damaging	Het
Tmem82	T	C	4: 141,617,390	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,038,091	E198G	probably benign	Het
Tnpo2	A	G	8: 85,054,416	N767S	probably damaging	Het
Trf	T	C	9: 103,226,903	Y87C	probably damaging	Het
Tst	A	G	15: 78,405,580	V85A	probably damaging	Het
Usp37	A	T	1: 74,468,348	N503K	probably damaging	Het
Utp20	C	T	10: 88,754,573	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,711,406	D37G	probably benign	Het
Vmn1r77	T	A	7: 12,041,738	L79*	probably null	Het
Zbtb3	A	T	19: 8,803,200	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,808,854	F182S	probably benign	Het
Zfp426	A	G	9: 20,470,297	F465L	probably damaging	Het
Zfp526	A	G	7: 25,226,212	E632G	probably damaging	Het

Other mutations in Ikzf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Ikzf4	APN	10	128634547	missense	probably benign	0.00
IGL01649:Ikzf4	APN	10	128635820	missense	probably damaging	1.00
IGL02261:Ikzf4	APN	10	128636722	missense	possibly damaging	0.50
IGL02315:Ikzf4	APN	10	128634145	missense	probably damaging	1.00
R0099:Ikzf4	UTSW	10	128634197	missense	probably damaging	0.97
R0200:Ikzf4	UTSW	10	128634676	missense	probably damaging	0.96
R0365:Ikzf4	UTSW	10	128634407	missense	probably benign
R0376:Ikzf4	UTSW	10	128632756	missense	probably benign
R0536:Ikzf4	UTSW	10	128641249	missense	probably benign	0.09
R1731:Ikzf4	UTSW	10	128634532	missense	probably benign	0.03
R2017:Ikzf4	UTSW	10	128634157	missense	probably damaging	1.00
R4158:Ikzf4	UTSW	10	128643736	intron	probably benign
R4160:Ikzf4	UTSW	10	128643736	intron	probably benign
R4623:Ikzf4	UTSW	10	128641119	missense	probably damaging	1.00
R4789:Ikzf4	UTSW	10	128632706	missense	probably benign	0.00
R5008:Ikzf4	UTSW	10	128641250	missense	probably benign	0.03
R5432:Ikzf4	UTSW	10	128634178	missense	probably damaging	1.00
R6091:Ikzf4	UTSW	10	128634673	missense	probably benign	0.15
R6445:Ikzf4	UTSW	10	128636555	intron	probably null
R7204:Ikzf4	UTSW	10	128643890	missense	possibly damaging	0.64
R7219:Ikzf4	UTSW	10	128634383	missense	possibly damaging	0.64
R7239:Ikzf4	UTSW	10	128641244	missense	probably damaging	1.00
R7485:Ikzf4	UTSW	10	128632582	missense	unknown
R7710:Ikzf4	UTSW	10	128632741	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- ACAGAGACCACTTGGCTCATTTTCC -3'
(R):5'- GATCAAGGGCTGGACATGTACGATG -3'

Sequencing Primer
(F):5'- TTTCCCCCCTAAATCAAATCTCCAG -3'
(R):5'- agaggaggaagagaaagggag -3'

Posted On

2013-05-23