Mutagenetix > Incidental Mutation

Incidental Mutation 'R4623:Ikzf4'

346345

Institutional Source

Beutler Lab

Gene Symbol

Ikzf4

Ensembl Gene

ENSMUSG00000002578

Gene Name

IKAROS family zinc finger 4

Synonyms

Zfpn1a4, A630026H08Rik, Eos

MMRRC Submission

041888-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128466712-128505227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128476988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 108 (C108R)

Ref Sequence

ENSEMBL: ENSMUSP00000152234 (fasta)

Gene Model

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

AlphaFold

Q8C208

Predicted Effect

probably damaging
Transcript: ENSMUST00000065334
AA Change: C161R

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

SMART Domains

Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: C161R

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: C108R

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: C161R

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

SMART Domains

Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: C161R

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

noncoding transcript
Transcript: ENSMUST00000149762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221022

Predicted Effect

probably damaging
Transcript: ENSMUST00000221150
AA Change: C161R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222067
AA Change: C108R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223145

Predicted Effect

probably benign
Transcript: ENSMUST00000222901

Predicted Effect

probably benign
Transcript: ENSMUST00000223162

Meta Mutation Damage Score

0.9734

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	T	C	12: 11,272,141 (GRCm39)		noncoding transcript	Het
A930003A15Rik	C	T	16: 19,702,487 (GRCm39)		noncoding transcript	Het
Abca13	A	G	11: 9,259,130 (GRCm39)	Y2952C	probably damaging	Het
Actrt2	T	C	4: 154,751,747 (GRCm39)	T130A	probably benign	Het
Adamts7	T	A	9: 90,068,515 (GRCm39)	D475E	probably benign	Het
Adgrf5	A	G	17: 43,761,874 (GRCm39)	S1190G	probably benign	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Aldoc	T	C	11: 78,215,947 (GRCm39)	V151A	probably damaging	Het
Arsj	A	T	3: 126,158,445 (GRCm39)	E8V	probably benign	Het
Asph	T	C	4: 9,622,005 (GRCm39)	K167E	possibly damaging	Het
Auts2	G	A	5: 131,469,221 (GRCm39)	P475S	probably benign	Het
C1d	A	G	11: 17,212,742 (GRCm39)	D29G	possibly damaging	Het
Calb1	T	A	4: 15,895,721 (GRCm39)		probably benign	Het
Ceacam15	A	T	7: 16,407,391 (GRCm39)	F42Y	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cts6	A	T	13: 61,349,974 (GRCm39)	Y36N	possibly damaging	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Cyp2a22	G	T	7: 26,632,916 (GRCm39)	P429T	probably damaging	Het
Dipk2a	T	C	9: 94,402,451 (GRCm39)	N404D	possibly damaging	Het
Dock3	T	C	9: 106,939,244 (GRCm39)	E168G	possibly damaging	Het
Dot1l	A	G	10: 80,617,984 (GRCm39)	N324S	probably benign	Het
Dusp13b	A	C	14: 21,793,546 (GRCm39)		probably benign	Het
Eif4g1	T	A	16: 20,500,095 (GRCm39)		probably benign	Het
Fan1	G	T	7: 64,023,301 (GRCm39)	Y121*	probably null	Het
Foxn4	T	C	5: 114,398,991 (GRCm39)	E80G	possibly damaging	Het
Gal3st2c	C	A	1: 93,937,178 (GRCm39)	H374Q	possibly damaging	Het
Gm973	A	T	1: 59,595,435 (GRCm39)	I409F	probably damaging	Het
Gpr18	T	A	14: 122,149,579 (GRCm39)	T149S	probably damaging	Het
Gsr	A	G	8: 34,170,333 (GRCm39)	E206G	probably damaging	Het
Hal	A	G	10: 93,343,301 (GRCm39)	H515R	probably damaging	Het
Heatr5b	A	G	17: 79,102,548 (GRCm39)	S1277P	possibly damaging	Het
Hmcn2	A	G	2: 31,286,722 (GRCm39)	E2125G	probably damaging	Het
Kcnh2	A	G	5: 24,553,440 (GRCm39)	V59A	probably benign	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Kif11	A	T	19: 37,398,195 (GRCm39)	I674L	probably benign	Het
Lrp1b	A	T	2: 41,136,033 (GRCm39)	C1646S	probably damaging	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mib1	C	A	18: 10,808,086 (GRCm39)	N944K	probably benign	Het
Mical3	C	A	6: 120,938,586 (GRCm39)	E262*	probably null	Het
Mms22l	C	T	4: 24,502,792 (GRCm39)	Q55*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrps11	T	C	7: 78,441,689 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ncapd2	A	G	6: 125,150,572 (GRCm39)	V843A	probably benign	Het
Nell1	A	G	7: 49,770,310 (GRCm39)	E123G	possibly damaging	Het
Nkd1	A	G	8: 89,316,383 (GRCm39)	D213G	probably benign	Het
Nlrp1b	T	C	11: 71,052,669 (GRCm39)	T920A	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or6c208	G	A	10: 129,223,915 (GRCm39)	V138M	probably benign	Het
Or8k40	T	A	2: 86,584,906 (GRCm39)	M59L	possibly damaging	Het
Pde8b	C	T	13: 95,178,447 (GRCm39)	A566T	possibly damaging	Het
Pds5b	T	A	5: 150,724,066 (GRCm39)	S1214R	probably benign	Het
Pld1	T	C	3: 28,083,393 (GRCm39)	I171T	probably benign	Het
Plekha5	T	A	6: 140,496,912 (GRCm39)	V154E	probably damaging	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppp1r16b	A	G	2: 158,603,383 (GRCm39)	Y436C	possibly damaging	Het
Proc	T	A	18: 32,260,526 (GRCm39)	T200S	probably benign	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Ptger2	G	A	14: 45,226,471 (GRCm39)	R17H	possibly damaging	Het
Rab42	A	G	4: 132,030,504 (GRCm39)	F49L	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rdh10	G	A	1: 16,201,287 (GRCm39)		probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Sftpc	T	C	14: 70,759,718 (GRCm39)		probably null	Het
Shcbp1	A	C	8: 4,789,178 (GRCm39)	V547G	probably damaging	Het
Slc6a13	T	C	6: 121,302,104 (GRCm39)	S229P	probably damaging	Het
Soat2	A	T	15: 102,066,144 (GRCm39)		probably benign	Het
Swap70	A	G	7: 109,867,079 (GRCm39)	K294E	probably benign	Het
Tcim	C	A	8: 24,928,725 (GRCm39)	R63L	probably damaging	Het
Tek	G	A	4: 94,751,898 (GRCm39)	V1013I	probably damaging	Het
Tg	T	A	15: 66,607,120 (GRCm39)	M219K	probably benign	Het
Tie1	A	G	4: 118,343,808 (GRCm39)	S45P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Tram1l1	T	A	3: 124,115,509 (GRCm39)	M223K	possibly damaging	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Uspl1	T	A	5: 149,151,405 (GRCm39)	D669E	probably damaging	Het
Vav1	C	A	17: 57,606,839 (GRCm39)		probably null	Het
Vcl	A	T	14: 21,065,007 (GRCm39)	E634V	probably benign	Het
Zfp672	A	T	11: 58,207,281 (GRCm39)	C347S	probably benign	Het

Other mutations in Ikzf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Ikzf4	APN	10	128,470,416 (GRCm39)	missense	probably benign	0.00
IGL01649:Ikzf4	APN	10	128,471,689 (GRCm39)	missense	probably damaging	1.00
IGL02261:Ikzf4	APN	10	128,472,591 (GRCm39)	missense	possibly damaging	0.50
IGL02315:Ikzf4	APN	10	128,470,014 (GRCm39)	missense	probably damaging	1.00
R0099:Ikzf4	UTSW	10	128,470,066 (GRCm39)	missense	probably damaging	0.97
R0200:Ikzf4	UTSW	10	128,470,545 (GRCm39)	missense	probably damaging	0.96
R0365:Ikzf4	UTSW	10	128,470,276 (GRCm39)	missense	probably benign
R0376:Ikzf4	UTSW	10	128,468,625 (GRCm39)	missense	probably benign
R0456:Ikzf4	UTSW	10	128,471,677 (GRCm39)	missense	probably damaging	0.98
R0536:Ikzf4	UTSW	10	128,477,118 (GRCm39)	missense	probably benign	0.09
R1731:Ikzf4	UTSW	10	128,470,401 (GRCm39)	missense	probably benign	0.03
R2017:Ikzf4	UTSW	10	128,470,026 (GRCm39)	missense	probably damaging	1.00
R4158:Ikzf4	UTSW	10	128,479,605 (GRCm39)	intron	probably benign
R4160:Ikzf4	UTSW	10	128,479,605 (GRCm39)	intron	probably benign
R4789:Ikzf4	UTSW	10	128,468,575 (GRCm39)	missense	probably benign	0.00
R5008:Ikzf4	UTSW	10	128,477,119 (GRCm39)	missense	probably benign	0.03
R5432:Ikzf4	UTSW	10	128,470,047 (GRCm39)	missense	probably damaging	1.00
R6091:Ikzf4	UTSW	10	128,470,542 (GRCm39)	missense	probably benign	0.15
R6445:Ikzf4	UTSW	10	128,472,424 (GRCm39)	splice site	probably null
R7204:Ikzf4	UTSW	10	128,479,759 (GRCm39)	missense	possibly damaging	0.64
R7219:Ikzf4	UTSW	10	128,470,252 (GRCm39)	missense	possibly damaging	0.64
R7239:Ikzf4	UTSW	10	128,477,113 (GRCm39)	missense	probably damaging	1.00
R7485:Ikzf4	UTSW	10	128,468,451 (GRCm39)	missense	unknown
R7710:Ikzf4	UTSW	10	128,468,610 (GRCm39)	missense	possibly damaging	0.46
R7988:Ikzf4	UTSW	10	128,470,324 (GRCm39)	missense	probably damaging	1.00
R9127:Ikzf4	UTSW	10	128,468,487 (GRCm39)	missense	unknown
R9352:Ikzf4	UTSW	10	128,472,623 (GRCm39)	missense	probably benign	0.22
Z1176:Ikzf4	UTSW	10	128,470,099 (GRCm39)	missense	possibly damaging	0.69
Z1177:Ikzf4	UTSW	10	128,478,509 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GGAAACATGCTCTGATTGACCC -3'
(R):5'- TGTACAGCGATGAGGAGTCG -3'

Sequencing Primer
(F):5'- GATTGACCCTTCCATTGCTGAAC -3'
(R):5'- CAGCGATGAGGAGTCGAGCAG -3'

Posted On

2015-09-25