Incidental Mutation 'IGL03376:Ikzf3'
ID |
420492 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ikzf3
|
Ensembl Gene |
ENSMUSG00000018168 |
Gene Name |
IKAROS family zinc finger 3 |
Synonyms |
Zfpn1a3, 5830411O07Rik, Aiolos |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03376
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98355728-98436857 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98379779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 163
(H163L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103141]
|
AlphaFold |
O08900 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103141
AA Change: H163L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099430 Gene: ENSMUSG00000018168 AA Change: H163L
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
117 |
139 |
4.34e0 |
SMART |
ZnF_C2H2
|
145 |
167 |
8.02e-5 |
SMART |
ZnF_C2H2
|
173 |
195 |
4.47e-3 |
SMART |
ZnF_C2H2
|
201 |
221 |
7.11e0 |
SMART |
ZnF_C2H2
|
450 |
472 |
7.11e0 |
SMART |
ZnF_C2H2
|
478 |
502 |
1.64e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140876
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012] PHENOTYPE: Homozygous mutants exhibit greatly reduced B cell populations in the peritoneum, marginal zone and recirculating bone marrow. Aging mutants express autoantibodies, frequently develop B cell lymphomas, and display symptoms characteristic of SLE. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6v1b2 |
T |
C |
8: 69,554,811 (GRCm39) |
|
probably benign |
Het |
Ccdc122 |
A |
G |
14: 77,306,352 (GRCm39) |
E41G |
probably damaging |
Het |
Cdh3 |
C |
T |
8: 107,268,036 (GRCm39) |
T357I |
probably benign |
Het |
Cfap57 |
T |
A |
4: 118,441,917 (GRCm39) |
Q717L |
probably damaging |
Het |
Cfap58 |
A |
T |
19: 48,023,164 (GRCm39) |
T859S |
possibly damaging |
Het |
Cmtr1 |
C |
T |
17: 29,910,385 (GRCm39) |
R497C |
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,411,464 (GRCm39) |
I2494T |
probably benign |
Het |
Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
Eml3 |
A |
G |
19: 8,911,154 (GRCm39) |
D260G |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,250,960 (GRCm39) |
F493L |
possibly damaging |
Het |
Gjb5 |
C |
T |
4: 127,250,048 (GRCm39) |
R32H |
probably damaging |
Het |
Hpx |
C |
T |
7: 105,241,458 (GRCm39) |
|
probably benign |
Het |
Irak3 |
G |
A |
10: 119,982,541 (GRCm39) |
|
probably benign |
Het |
Itih5 |
G |
A |
2: 10,211,584 (GRCm39) |
V275I |
probably benign |
Het |
Klc1 |
G |
T |
12: 111,742,387 (GRCm39) |
E174D |
probably damaging |
Het |
Ly6g6e |
A |
G |
17: 35,297,208 (GRCm39) |
*108W |
probably null |
Het |
Mcph1 |
T |
C |
8: 18,646,989 (GRCm39) |
S31P |
probably damaging |
Het |
Mettl4 |
A |
T |
17: 95,042,799 (GRCm39) |
S346T |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,490,086 (GRCm39) |
|
probably benign |
Het |
Or2ag19 |
T |
A |
7: 106,444,677 (GRCm39) |
N286K |
probably damaging |
Het |
Otol1 |
A |
G |
3: 69,934,845 (GRCm39) |
E279G |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,115,071 (GRCm39) |
N722K |
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,319,947 (GRCm39) |
S449P |
probably damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,059 (GRCm39) |
N145S |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,753,380 (GRCm39) |
I158M |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,173,219 (GRCm39) |
|
probably benign |
Het |
Slc30a8 |
C |
T |
15: 52,169,853 (GRCm39) |
R27* |
probably null |
Het |
Tmco2 |
T |
A |
4: 120,966,249 (GRCm39) |
T36S |
probably benign |
Het |
Tns4 |
T |
C |
11: 98,969,382 (GRCm39) |
S360G |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,420,574 (GRCm39) |
|
probably null |
Het |
Wwc1 |
C |
T |
11: 35,743,121 (GRCm39) |
R900Q |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,767,377 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ikzf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01477:Ikzf3
|
APN |
11 |
98,379,683 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01537:Ikzf3
|
APN |
11 |
98,407,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R0030:Ikzf3
|
UTSW |
11 |
98,358,438 (GRCm39) |
missense |
probably benign |
0.01 |
R0266:Ikzf3
|
UTSW |
11 |
98,358,143 (GRCm39) |
missense |
probably benign |
|
R1302:Ikzf3
|
UTSW |
11 |
98,407,746 (GRCm39) |
missense |
probably benign |
|
R1464:Ikzf3
|
UTSW |
11 |
98,407,731 (GRCm39) |
missense |
probably benign |
0.00 |
R1464:Ikzf3
|
UTSW |
11 |
98,407,731 (GRCm39) |
missense |
probably benign |
0.00 |
R1500:Ikzf3
|
UTSW |
11 |
98,409,521 (GRCm39) |
missense |
probably benign |
0.16 |
R1531:Ikzf3
|
UTSW |
11 |
98,381,272 (GRCm39) |
missense |
probably damaging |
0.98 |
R1599:Ikzf3
|
UTSW |
11 |
98,357,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R1623:Ikzf3
|
UTSW |
11 |
98,381,157 (GRCm39) |
critical splice donor site |
probably null |
|
R2154:Ikzf3
|
UTSW |
11 |
98,376,475 (GRCm39) |
nonsense |
probably null |
|
R3915:Ikzf3
|
UTSW |
11 |
98,381,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R4004:Ikzf3
|
UTSW |
11 |
98,379,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R4005:Ikzf3
|
UTSW |
11 |
98,379,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R4075:Ikzf3
|
UTSW |
11 |
98,358,469 (GRCm39) |
nonsense |
probably null |
|
R4210:Ikzf3
|
UTSW |
11 |
98,381,313 (GRCm39) |
missense |
probably benign |
0.00 |
R4804:Ikzf3
|
UTSW |
11 |
98,381,400 (GRCm39) |
missense |
probably benign |
0.20 |
R5107:Ikzf3
|
UTSW |
11 |
98,381,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R5266:Ikzf3
|
UTSW |
11 |
98,381,406 (GRCm39) |
missense |
probably benign |
0.11 |
R5267:Ikzf3
|
UTSW |
11 |
98,381,406 (GRCm39) |
missense |
probably benign |
0.11 |
R5450:Ikzf3
|
UTSW |
11 |
98,357,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R6237:Ikzf3
|
UTSW |
11 |
98,357,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R6557:Ikzf3
|
UTSW |
11 |
98,407,707 (GRCm39) |
missense |
probably benign |
|
R7832:Ikzf3
|
UTSW |
11 |
98,409,525 (GRCm39) |
missense |
probably benign |
|
R8058:Ikzf3
|
UTSW |
11 |
98,407,753 (GRCm39) |
nonsense |
probably null |
|
R8073:Ikzf3
|
UTSW |
11 |
98,358,255 (GRCm39) |
missense |
probably benign |
0.05 |
R9564:Ikzf3
|
UTSW |
11 |
98,358,032 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ikzf3
|
UTSW |
11 |
98,358,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2016-08-02 |