Mutagenetix > Incidental Mutations

Incidental Mutation 'R6091:Ikzf4'

485934

Institutional Source

Beutler Lab

Gene Symbol

Ikzf4

Ensembl Gene

ENSMUSG00000002578

Gene Name

IKAROS family zinc finger 4

Synonyms

Eos, Zfpn1a4, A630026H08Rik

MMRRC Submission

044248-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6091 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

128630843-128645991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128634673 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 326 (T326I)

Ref Sequence

ENSEMBL: ENSMUSP00000152234 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065334
AA Change: T379I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: T379I

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: T326I

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 benign
Transcript: ENSMUST00000133342
AA Change: T379I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: T379I

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 benign
Transcript: ENSMUST00000221150
AA Change: T379I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000222067
AA Change: T326I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000223162

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.8%

Validation Efficiency

96% (54/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	G	2: 35,362,336	T50P	possibly damaging	Het
Adad1	A	G	3: 37,084,969	E396G	possibly damaging	Het
Adamtsl3	T	A	7: 82,465,621	C232S	probably damaging	Het
AI606181	T	C	19: 41,593,624	S78P	unknown	Het
Amph	T	A	13: 19,125,123	M457K	probably benign	Het
Ano1	A	T	7: 144,669,434	M174K	probably benign	Het
C3	T	A	17: 57,221,967	K632*	probably null	Het
Cep170	C	T	1: 176,755,831	G994D	probably damaging	Het
Chd7	T	C	4: 8,751,875	V124A	probably damaging	Het
Chd9	A	G	8: 91,035,063	K2259E	probably damaging	Het
Col7a1	A	G	9: 108,955,334	T137A	unknown	Het
Dcc	C	T	18: 71,809,114	V311I	probably benign	Het
Ddx42	A	T	11: 106,234,970	Q282L	probably damaging	Het
Fcgbp	A	G	7: 28,104,965	T1833A	possibly damaging	Het
Fpr-rs3	A	G	17: 20,624,270	I203T	probably benign	Het
Frem1	A	G	4: 82,900,559	I2139T	probably benign	Het
Frmpd2	T	C	14: 33,522,863	V546A	probably damaging	Het
Gbp11	G	T	5: 105,331,388	T123N	possibly damaging	Het
Hs3st1	G	A	5: 39,614,664	P212L	probably damaging	Het
Ifnb1	T	A	4: 88,522,576	M67L	probably benign	Het
Ighv1-54	T	C	12: 115,193,877	N50S	probably benign	Het
Ints2	A	T	11: 86,236,603	V501E	probably damaging	Het
Mfsd1	C	A	3: 67,599,937		probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mrps11	G	A	7: 78,788,718	A73T	possibly damaging	Het
Mterf4	T	C	1: 93,301,569	E311G	probably damaging	Het
Mx2	A	G	16: 97,546,435	T176A	probably damaging	Het
Mycbp2	A	C	14: 103,223,046	L1495R	probably damaging	Het
Myo3b	A	G	2: 70,238,769	T451A	probably benign	Het
Myrfl	T	C	10: 116,849,206	T90A	probably benign	Het
Nbeal1	A	G	1: 60,181,556		probably benign	Het
Ncor1	A	G	11: 62,419,617	L201P	probably damaging	Het
Nfxl1	G	T	5: 72,514,190	L909I	probably benign	Het
Nr3c1	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	18: 39,486,958		probably benign	Het
Olfr1107	T	A	2: 87,071,361	S258C	probably benign	Het
Plscr5	A	G	9: 92,204,384	T136A	probably benign	Het
Ppp1r3a	G	A	6: 14,719,340	T525I	probably benign	Het
Ptprg	G	A	14: 12,215,979	G1143R	probably damaging	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Ryr1	T	C	7: 29,071,973	T2541A	probably benign	Het
Sall1	A	G	8: 89,028,619	L1244P	probably damaging	Het
Sec16a	G	A	2: 26,426,470	H1673Y	probably damaging	Het
Slc22a19	A	G	19: 7,711,063	I44T	probably benign	Het
Snap91	T	A	9: 86,839,628	N53Y	probably damaging	Het
Sorcs1	T	C	19: 50,288,101	T338A	possibly damaging	Het
Taf6l	T	C	19: 8,778,556	T243A	probably benign	Het
Tex10	T	C	4: 48,459,891	R487G	probably damaging	Het
Tfcp2	G	T	15: 100,512,313	T391N	probably damaging	Het
Tnxb	G	A	17: 34,710,364	V2794M	probably damaging	Het
Ush2a	T	G	1: 188,399,803	C741G	probably damaging	Het
Vmn1r3	T	A	4: 3,184,684	I208F	probably damaging	Het
Vmn2r28	T	A	7: 5,493,791	I21F	possibly damaging	Het
Vmn2r93	A	G	17: 18,325,696	D610G	probably benign	Het
Wbp1	T	C	6: 83,119,487	S229G	probably benign	Het
Xirp1	A	G	9: 120,017,963	V618A	probably benign	Het
Zbtb32	A	G	7: 30,591,829	S14P	possibly damaging	Het
Zfp24	A	G	18: 24,014,212	S348P	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
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
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
R7988:Ikzf4	UTSW	10	128634455	missense	probably damaging	1.00
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'- TATCTGTGGAGTCCTGGCAG -3'
(R):5'- TCCAATGCCAATGAGATCTGATC -3'

Sequencing Primer
(F):5'- TGGAGTCCTGGCAGCCATTG -3'
(R):5'- AATGCCAATGAGATCTGATCCTCCTC -3'

Posted On

2017-08-16