Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Ikzf1'

232942

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

040118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11634980-11722926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11719473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 480 (H480Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075992 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000018798
AA Change: H393Q

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

SMART Domains

Protein: ENSMUSP00000018798
Gene: ENSMUSG00000018654
AA Change: H393Q

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: H500Q

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

SMART Domains

Protein: ENSMUSP00000067372
Gene: ENSMUSG00000018654
AA Change: H500Q

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: H480Q

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

SMART Domains

Protein: ENSMUSP00000075992
Gene: ENSMUSG00000018654
AA Change: H480Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,889,649 (GRCm39)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,412,411 (GRCm39)		probably null	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,926,001 (GRCm39)	V685I	probably benign	Het
Apba3	T	C	10: 81,108,946 (GRCm39)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Bmp10	A	C	6: 87,411,441 (GRCm39)	E411D	probably benign	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,766,179 (GRCm39)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,312,561 (GRCm39)	V345I	probably damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Col5a2	T	A	1: 45,415,964 (GRCm39)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,121,018 (GRCm39)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,870,743 (GRCm39)	N557S	probably benign	Het
Edem2	G	A	2: 155,544,479 (GRCm39)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Eya1	A	T	1: 14,340,998 (GRCm39)	F163I	probably damaging	Het
Ezh1	A	C	11: 101,099,011 (GRCm39)	S290A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Fat4	A	T	3: 39,035,633 (GRCm39)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,639,711 (GRCm39)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,612,122 (GRCm39)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,105,362 (GRCm39)	C99*	probably null	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gm266	T	G	12: 111,452,116 (GRCm39)	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,563,838 (GRCm39)	E264V	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,716,322 (GRCm39)	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,650,421 (GRCm39)	M4T	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Madd	A	G	2: 90,994,367 (GRCm39)	V884A	probably damaging	Het
Maz	C	A	7: 126,624,677 (GRCm39)	C281F	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mrm3	T	C	11: 76,135,347 (GRCm39)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,763,637 (GRCm39)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,246,334 (GRCm39)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Obscn	C	T	11: 59,022,484 (GRCm39)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,569,265 (GRCm39)	E137G	probably damaging	Het
Pdk2	A	G	11: 94,918,088 (GRCm39)	Y382H	probably damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pik3r2	T	C	8: 71,222,029 (GRCm39)	I585V	probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,468,817 (GRCm39)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,311,243 (GRCm39)	N9D	probably damaging	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,574,711 (GRCm39)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 32,017,279 (GRCm39)	N257I	probably damaging	Het
Prkcd	A	G	14: 30,327,808 (GRCm39)	C208R	probably damaging	Het
Prkch	T	A	12: 73,749,290 (GRCm39)	S347T	probably benign	Het
Prr12	A	G	7: 44,695,506 (GRCm39)	V1320A	unknown	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rgr	T	A	14: 36,760,809 (GRCm39)		probably null	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,387,024 (GRCm39)	E781V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Rusc1	T	C	3: 88,999,014 (GRCm39)	D256G	probably benign	Het
Scap	T	C	9: 110,210,341 (GRCm39)	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,909,592 (GRCm39)	V664I	probably benign	Het
Stim2	A	G	5: 54,261,819 (GRCm39)	Q237R	probably damaging	Het
Synpo2	T	A	3: 122,873,537 (GRCm39)	H1143L	probably benign	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcf23	G	A	5: 31,130,919 (GRCm39)	D186N	probably benign	Het
Tcf3	C	A	10: 80,246,040 (GRCm39)	G628W	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Ttn	A	T	2: 76,577,352 (GRCm39)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,382,484 (GRCm39)	E587G	probably benign	Het
Ubr4	A	T	4: 139,156,922 (GRCm39)	K2316*	probably null	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Vat1	A	T	11: 101,356,568 (GRCm39)	V131E	probably damaging	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Zfp1005	T	A	2: 150,109,819 (GRCm39)	C170S	unknown	Het
Zfp592	G	A	7: 80,674,544 (GRCm39)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zscan30	A	G	18: 24,104,173 (GRCm39)		noncoding transcript	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
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
R7727:Ikzf1	UTSW	11	11,698,339 (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'- CAGCGGCCTTATCTACCTAAC -3'
(R):5'- AACATTGTCCGCTGTGGGTC -3'

Sequencing Primer
(F):5'- AATGGGCTGGCTCTCAAGG -3'
(R):5'- GTCCAGCTGCCGGGAAG -3'

Posted On

2014-09-18