Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Ikzf1'

595572

Institutional Source

Beutler Lab

Gene Symbol

Ikzf1

Ensembl Gene

ENSMUSG00000018654

Gene Name

IKAROS family zinc finger 1

Synonyms

Zfpn1a1, 5832432G11Rik, LyF-1, Ikaros

MMRRC Submission

045783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11634980-11722926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11698339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 63 (S63R)

Ref Sequence

ENSEMBL: ENSMUSP00000075992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018798] [ENSMUST00000048122] [ENSMUST00000065433] [ENSMUST00000076700] [ENSMUST00000126058]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018798

SMART Domains

Protein: ENSMUSP00000018798
Gene: ENSMUSG00000018654

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 benign
Transcript: ENSMUST00000048122

SMART Domains

Protein: ENSMUSP00000046974
Gene: ENSMUSG00000018654

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000065433
AA Change: S83R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067372
Gene: ENSMUSG00000018654
AA Change: S83R

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: S63R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075992
Gene: ENSMUSG00000018654
AA Change: S63R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126058

SMART Domains

Protein: ENSMUSP00000119960
Gene: ENSMUSG00000018654

Domain	Start	End	E-Value	Type
ZnF_C2H2	58	78	2.14e0	SMART

Meta Mutation Damage Score

0.4498

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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
Adamts5	A	T	16: 85,696,854 (GRCm39)	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,746,007 (GRCm39)	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,678,346 (GRCm39)	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,202,148 (GRCm39)	F118Y	probably benign	Het
Bcl6	A	G	16: 23,790,163 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,744,974 (GRCm39)	L31Q	probably benign	Het
Cd5l	G	T	3: 87,275,162 (GRCm39)	E234*	probably null	Het
Cemip2	C	T	19: 21,807,321 (GRCm39)	L917F	probably benign	Het
Cfap65	T	C	1: 74,965,784 (GRCm39)	T409A	probably benign	Het
Chst5	A	T	8: 112,617,557 (GRCm39)	I21N	probably benign	Het
Cldn20	T	C	17: 3,583,030 (GRCm39)	Y68H	probably benign	Het
Col4a4	T	C	1: 82,506,514 (GRCm39)	M269V	unknown	Het
Dgkh	A	G	14: 78,832,585 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,656,242 (GRCm39)	T166A	probably benign	Het
Drosha	A	G	15: 12,881,731 (GRCm39)	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,987,326 (GRCm39)	K350N	probably damaging	Het
Fsd1	T	G	17: 56,295,150 (GRCm39)	D46E	probably benign	Het
Gabra1	T	C	11: 42,024,418 (GRCm39)	D419G	probably damaging	Het
Golga4	T	A	9: 118,377,770 (GRCm39)	D458E	probably damaging	Het
Grm6	C	A	11: 50,742,369 (GRCm39)	A134E	probably benign	Het
Ilvbl	G	A	10: 78,412,500 (GRCm39)	V74I	probably benign	Het
Kcng2	C	T	18: 80,339,305 (GRCm39)	V328M	probably benign	Het
Kpna7	T	C	5: 144,941,855 (GRCm39)	E145G	probably benign	Het
Krt81	A	G	15: 101,357,448 (GRCm39)	V428A	probably damaging	Het
Lalba	T	C	15: 98,380,549 (GRCm39)	M2V	probably benign	Het
Lrpprc	T	C	17: 85,084,375 (GRCm39)	S113G	probably benign	Het
Mboat1	A	C	13: 30,410,289 (GRCm39)	M249L	probably benign	Het
Meltf	T	C	16: 31,702,612 (GRCm39)	V113A	probably damaging	Het
Muc16	T	A	9: 18,571,538 (GRCm39)	H327L	unknown	Het
Myh1	A	G	11: 67,106,748 (GRCm39)	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Naga	C	A	15: 82,214,348 (GRCm39)	V388L	probably benign	Het
Nfkb1	A	C	3: 135,291,162 (GRCm39)	M957R	possibly damaging	Het
Nol12	C	A	15: 78,824,793 (GRCm39)	S157*	probably null	Het
Or13c25	A	G	4: 52,911,368 (GRCm39)	V142A	possibly damaging	Het
Or5g23	A	G	2: 85,438,751 (GRCm39)	F168L	possibly damaging	Het
Or8u3-ps	A	T	2: 85,952,840 (GRCm39)	D191V	possibly damaging	Het
Pcdhga5	T	C	18: 37,828,098 (GRCm39)	V182A	probably benign	Het
Pik3r4	A	G	9: 105,547,081 (GRCm39)	E953G	probably damaging	Het
Piwil2	C	T	14: 70,631,506 (GRCm39)	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,779,971 (GRCm39)	H157R	probably damaging	Het
Prrg4	A	T	2: 104,669,723 (GRCm39)	F131L	probably benign	Het
Prss3b	C	A	6: 41,010,127 (GRCm39)	R69L	probably benign	Het
Rab28	A	G	5: 41,865,313 (GRCm39)	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,291,260 (GRCm39)	Q209K	probably benign	Het
Schip1	G	A	3: 67,972,317 (GRCm39)	D15N	probably benign	Het
Serpina3f	T	G	12: 104,184,477 (GRCm39)	M207R	probably benign	Het
Sgsm1	A	T	5: 113,422,193 (GRCm39)	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 62,122,651 (GRCm39)	I471F	probably benign	Het
Slamf1	G	A	1: 171,602,467 (GRCm39)	V65I	possibly damaging	Het
Slit3	T	C	11: 35,574,871 (GRCm39)	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,263,446 (GRCm39)	K344N	probably damaging	Het
Sorl1	A	G	9: 41,895,822 (GRCm39)	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,373,019 (GRCm39)	R228C	probably damaging	Het
Sv2c	A	G	13: 96,113,203 (GRCm39)	I582T	possibly damaging	Het
Tamm41	C	T	6: 114,993,139 (GRCm39)	V205M	probably damaging	Het
Trpm2	T	C	10: 77,761,623 (GRCm39)	D1009G	probably benign	Het
Trpm6	T	C	19: 18,831,613 (GRCm39)	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,923,731 (GRCm39)	V147I	possibly damaging	Het
Tut7	A	G	13: 59,947,496 (GRCm39)	F942L	probably benign	Het
Uba2	C	T	7: 33,850,275 (GRCm39)	A393T	probably damaging	Het
Ubn2	T	A	6: 38,440,873 (GRCm39)	N416K	probably benign	Het
Uevld	T	C	7: 46,593,553 (GRCm39)	N233S	probably benign	Het
Upp2	G	A	2: 58,664,160 (GRCm39)	M142I	possibly damaging	Het
Vps52	T	A	17: 34,181,108 (GRCm39)	V450D	probably benign	Het
Wdr31	A	T	4: 62,378,873 (GRCm39)	F118Y	probably damaging	Het
Zfp110	T	A	7: 12,582,922 (GRCm39)	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,293,457 (GRCm39)	V143D	probably damaging	Het
Zfp950	T	C	19: 61,108,379 (GRCm39)	I235V	probably benign	Het

Other mutations in Ikzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Ikzf1	APN	11	11,718,923 (GRCm39)	missense	probably damaging	1.00
IGL01367:Ikzf1	APN	11	11,698,358 (GRCm39)	missense	probably benign	0.04
IGL01823:Ikzf1	APN	11	11,719,091 (GRCm39)	missense	possibly damaging	0.64
IGL02342:Ikzf1	APN	11	11,650,216 (GRCm39)	utr 5 prime	probably benign
IGL02452:Ikzf1	APN	11	11,698,545 (GRCm39)	missense	probably damaging	1.00
IGL03209:Ikzf1	APN	11	11,650,226 (GRCm39)	missense	probably benign
IGL03236:Ikzf1	APN	11	11,657,848 (GRCm39)	missense	probably damaging	1.00
Herrscher	UTSW	11	11,718,961 (GRCm39)	nonsense	probably null
Star_lord	UTSW	11	11,719,448 (GRCm39)	missense	probably damaging	1.00
waxwing	UTSW	11	11,698,464 (GRCm39)	nonsense	probably null
R0133:Ikzf1	UTSW	11	11,691,015 (GRCm39)	splice site	probably null
R0417:Ikzf1	UTSW	11	11,719,352 (GRCm39)	missense	probably benign	0.19
R0633:Ikzf1	UTSW	11	11,719,223 (GRCm39)	missense	probably damaging	1.00
R0734:Ikzf1	UTSW	11	11,708,195 (GRCm39)	missense	probably damaging	1.00
R1693:Ikzf1	UTSW	11	11,657,838 (GRCm39)	missense	probably damaging	1.00
R2114:Ikzf1	UTSW	11	11,719,473 (GRCm39)	missense	probably damaging	1.00
R2927:Ikzf1	UTSW	11	11,719,324 (GRCm39)	missense	probably damaging	1.00
R4250:Ikzf1	UTSW	11	11,704,166 (GRCm39)	missense	probably damaging	1.00
R5156:Ikzf1	UTSW	11	11,719,448 (GRCm39)	missense	probably damaging	1.00
R5912:Ikzf1	UTSW	11	11,698,464 (GRCm39)	nonsense	probably null
R6274:Ikzf1	UTSW	11	11,718,961 (GRCm39)	nonsense	probably null
R7614:Ikzf1	UTSW	11	11,719,019 (GRCm39)	missense	probably damaging	1.00
R7759:Ikzf1	UTSW	11	11,719,256 (GRCm39)	missense	probably damaging	0.98
R8758:Ikzf1	UTSW	11	11,711,359 (GRCm39)	missense	probably benign	0.03
R8946:Ikzf1	UTSW	11	11,719,485 (GRCm39)	missense	possibly damaging	0.86
R8998:Ikzf1	UTSW	11	11,635,013 (GRCm39)	start gained	probably benign
R8999:Ikzf1	UTSW	11	11,635,013 (GRCm39)	start gained	probably benign
R9624:Ikzf1	UTSW	11	11,719,219 (GRCm39)	missense	probably damaging	1.00
Z1176:Ikzf1	UTSW	11	11,708,194 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACACTCTCTGGAAGCTTGGTG -3'
(R):5'- ACATTGGGCCCGATGCAAAC -3'

Sequencing Primer
(F):5'- TGCATGCACCAGTCAGACTG -3'
(R):5'- GGCCCGATGCAAACGATCC -3'

Posted On

2019-11-12