Mutagenetix > Incidental Mutations

Incidental Mutation 'R5156:Ikzf1'

396739

Institutional Source

Beutler Lab

Gene Symbol

Ikzf1

Ensembl Gene

ENSMUSG00000018654

Gene Name

IKAROS family zinc finger 1

Synonyms

LyF-1, 5832432G11Rik, Zfpn1a1, Ikaros

MMRRC Submission

042738-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11685003-11772926 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11769448 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 492 (M492K)

Ref Sequence

ENSEMBL: ENSMUSP00000067372 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000018798
AA Change: M385K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018798
Gene: ENSMUSG00000018654
AA Change: M385K

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 damaging
Transcript: ENSMUST00000065433
AA Change: M492K

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

SMART Domains

Protein: ENSMUSP00000067372
Gene: ENSMUSG00000018654
AA Change: M492K

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: M472K

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

SMART Domains

Protein: ENSMUSP00000075992
Gene: ENSMUSG00000018654
AA Change: M472K

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

Meta Mutation Damage Score

0.9625

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,593,424		probably null	Het
4921513D11Rik	G	T	17: 79,628,209		probably benign	Het
Apeh	C	T	9: 108,094,287	A29T	probably damaging	Het
Arap2	A	T	5: 62,669,181	Y1013*	probably null	Het
Arhgef4	A	G	1: 34,723,274	E537G	unknown	Het
Asf1b	T	C	8: 83,955,911	F28S	probably damaging	Het
Cd46	T	A	1: 195,085,385	I123L	possibly damaging	Het
Cdca7	A	T	2: 72,479,026	T48S	probably damaging	Het
Cfap53	T	A	18: 74,359,767		probably benign	Het
Clca3a2	T	A	3: 144,805,838	T599S	probably benign	Het
Csf1	T	A	3: 107,748,936	T148S	probably benign	Het
Dmbt1	T	C	7: 131,097,670		probably null	Het
Dmpk	A	G	7: 19,084,125	D44G	probably damaging	Het
Dnajb12	T	A	10: 59,892,960	N223K	probably damaging	Het
Dync1h1	T	A	12: 110,628,830	M1392K	probably benign	Het
Edrf1	C	T	7: 133,660,179	A867V	probably damaging	Het
Efemp2	T	A	19: 5,477,678	C94S	possibly damaging	Het
Epha8	C	T	4: 136,938,726	S373N	probably benign	Het
Foxk1	A	G	5: 142,448,833	D284G	possibly damaging	Het
Fzd10	C	A	5: 128,601,302	R29S	possibly damaging	Het
Gm13991	T	C	2: 116,528,184		noncoding transcript	Het
Gm6818	A	T	7: 38,402,047		noncoding transcript	Het
Hydin	T	A	8: 110,609,701	C5037S	probably benign	Het
Krt20	G	T	11: 99,430,053	S394R	possibly damaging	Het
Lrrc71	T	A	3: 87,745,787	R107S	probably benign	Het
Mia2	A	G	12: 59,172,537	T436A	possibly damaging	Het
Muc19	T	A	15: 91,900,420		noncoding transcript	Het
Neu4	T	C	1: 94,024,455	V182A	probably damaging	Het
Notch2	T	G	3: 98,124,310	F1167V	possibly damaging	Het
Nrap	A	G	19: 56,371,845	M189T	possibly damaging	Het
Nt5m	A	T	11: 59,874,661	I172F	probably damaging	Het
Olfr1138	G	A	2: 87,737,775	P183L	possibly damaging	Het
Olfr1474	G	T	19: 13,471,673	K234N	probably damaging	Het
Olfr228	A	T	2: 86,483,018	C241*	probably null	Het
Plekha5	C	T	6: 140,426,528	T68M	probably damaging	Het
Ppef2	A	G	5: 92,244,602		probably null	Het
Ppp1r37	T	C	7: 19,561,975		probably benign	Het
Rfx4	T	C	10: 84,868,354	Y238H	probably damaging	Het
Sec13	G	A	6: 113,730,876	A161V	probably benign	Het
Serhl	G	A	15: 83,102,694		probably benign	Het
Slco4a1	T	C	2: 180,472,779	V588A	probably benign	Het
Slitrk3	T	C	3: 73,049,259	T727A	probably benign	Het
Sp100	T	A	1: 85,673,683	D241E	probably damaging	Het
Spata2	G	T	2: 167,483,574	H442N	probably damaging	Het
Speg	T	C	1: 75,428,087	V2588A	probably damaging	Het
Tnfsf12	A	G	11: 69,687,329	S141P	probably damaging	Het
Trank1	A	G	9: 111,390,694	I2166M	probably damaging	Het
Trim10	T	A	17: 36,877,056	V388E	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Vmn2r10	A	G	5: 108,995,600	V828A	probably benign	Het
Vmn2r75	T	A	7: 86,164,228	L455F	possibly damaging	Het
Vwa8	T	A	14: 78,984,226	S541T	probably benign	Het

Other mutations in Ikzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Ikzf1	APN	11	11768923	missense	probably damaging	1.00
IGL01367:Ikzf1	APN	11	11748358	missense	probably benign	0.04
IGL01823:Ikzf1	APN	11	11769091	missense	possibly damaging	0.64
IGL02342:Ikzf1	APN	11	11700216	utr 5 prime	probably benign
IGL02452:Ikzf1	APN	11	11748545	missense	probably damaging	1.00
IGL03209:Ikzf1	APN	11	11700226	missense	probably benign
IGL03236:Ikzf1	APN	11	11707848	missense	probably damaging	1.00
Herrscher	UTSW	11	11768961	nonsense	probably null
Star_lord	UTSW	11	11769448	missense	probably damaging	1.00
waxwing	UTSW	11	11748464	nonsense	probably null
R0133:Ikzf1	UTSW	11	11741015	splice site	probably null
R0417:Ikzf1	UTSW	11	11769352	missense	probably benign	0.19
R0633:Ikzf1	UTSW	11	11769223	missense	probably damaging	1.00
R0734:Ikzf1	UTSW	11	11758195	missense	probably damaging	1.00
R1693:Ikzf1	UTSW	11	11707838	missense	probably damaging	1.00
R2114:Ikzf1	UTSW	11	11769473	missense	probably damaging	1.00
R2927:Ikzf1	UTSW	11	11769324	missense	probably damaging	1.00
R4250:Ikzf1	UTSW	11	11754166	missense	probably damaging	1.00
R5912:Ikzf1	UTSW	11	11748464	nonsense	probably null
R6274:Ikzf1	UTSW	11	11768961	nonsense	probably null
R7614:Ikzf1	UTSW	11	11769019	missense	probably damaging	1.00
R7727:Ikzf1	UTSW	11	11748339	missense	probably damaging	1.00
R7759:Ikzf1	UTSW	11	11769256	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCGGCCTTATCTACCTAACC -3'
(R):5'- AACATTGTCCGCTGTGGGTC -3'

Sequencing Primer
(F):5'- GGCCTTATCTACCTAACCAACCAC -3'
(R):5'- AGGAGGCATAACCAGCTATCTTTGTG -3'

Posted On

2016-06-21