Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Ikzf4'

651609

Institutional Source

Beutler Lab

Gene Symbol

Ikzf4

Ensembl Gene

ENSMUSG00000002578

Gene Name

IKAROS family zinc finger 4

Synonyms

Eos, Zfpn1a4, A630026H08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128630843-128645991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128634455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 452 (N452Y)

Ref Sequence

ENSEMBL: ENSMUSP00000152617 (fasta)

Gene Model

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

AlphaFold

Q8C208

Predicted Effect

probably damaging
Transcript: ENSMUST00000133342
AA Change: N452Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: N452Y

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: N452Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222067
AA Change: N399Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000223162

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly 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
R0456:Ikzf4	UTSW	10	128635808	missense	probably damaging	0.98
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	splice site	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
R9127:Ikzf4	UTSW	10	128632618	missense	unknown
R9352:Ikzf4	UTSW	10	128636754	missense	probably benign	0.22
Z1176:Ikzf4	UTSW	10	128634230	missense	possibly damaging	0.69
Z1177:Ikzf4	UTSW	10	128642640	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCACACTTAAAGGCCTTCACTGG -3'
(R):5'- CACACCTGTCATCAGCTCTG -3'

Sequencing Primer
(F):5'- ACCCGAAGCACTTCCTTGGAG -3'
(R):5'- TCAGCTCTGTGTACACCCAAATG -3'

Posted On

2020-09-15