Incidental Mutation 'IGL01537:Ikzf3'
ID |
89998 |
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 # |
IGL01537
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98355728-98436857 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98407718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 41
(D41G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103141]
|
AlphaFold |
O08900 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103141
AA Change: D41G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099430 Gene: ENSMUSG00000018168 AA Change: D41G
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: ENSMUST00000152400
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn1l |
T |
C |
8: 110,459,312 (GRCm39) |
R317G |
probably benign |
Het |
B130006D01Rik |
T |
A |
11: 95,616,992 (GRCm39) |
|
probably benign |
Het |
Brinp2 |
T |
C |
1: 158,074,379 (GRCm39) |
T581A |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,548,540 (GRCm39) |
I1179N |
probably damaging |
Het |
Cacnb3 |
A |
G |
15: 98,541,301 (GRCm39) |
D434G |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,847,341 (GRCm39) |
T423A |
possibly damaging |
Het |
Chkb |
C |
T |
15: 89,311,986 (GRCm39) |
|
probably benign |
Het |
Cit |
T |
C |
5: 116,071,913 (GRCm39) |
Y623H |
probably benign |
Het |
Clstn3 |
G |
A |
6: 124,408,559 (GRCm39) |
R918C |
possibly damaging |
Het |
Dnah2 |
T |
A |
11: 69,406,906 (GRCm39) |
M200L |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,838,506 (GRCm39) |
H3097L |
probably benign |
Het |
Dst |
T |
A |
1: 34,314,401 (GRCm39) |
L4217H |
probably damaging |
Het |
Fam107b |
T |
A |
2: 3,779,565 (GRCm39) |
L80Q |
probably damaging |
Het |
Fgfr1 |
T |
A |
8: 26,045,595 (GRCm39) |
C55S |
probably damaging |
Het |
Igkv4-71 |
C |
A |
6: 69,220,264 (GRCm39) |
G78* |
probably null |
Het |
Igsf10 |
A |
G |
3: 59,237,452 (GRCm39) |
S910P |
probably benign |
Het |
Larp1 |
T |
A |
11: 57,933,648 (GRCm39) |
I358N |
possibly damaging |
Het |
Marchf5 |
C |
T |
19: 37,188,067 (GRCm39) |
|
probably benign |
Het |
Mpdz |
T |
C |
4: 81,287,895 (GRCm39) |
T455A |
probably damaging |
Het |
Myo1b |
A |
G |
1: 51,815,510 (GRCm39) |
V612A |
possibly damaging |
Het |
Nipbl |
T |
C |
15: 8,380,023 (GRCm39) |
D923G |
probably benign |
Het |
Nlrp4b |
T |
C |
7: 10,448,918 (GRCm39) |
F7L |
probably damaging |
Het |
Npas4 |
T |
C |
19: 5,037,355 (GRCm39) |
N313S |
possibly damaging |
Het |
Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
Or10d5 |
T |
A |
9: 39,861,921 (GRCm39) |
T49S |
probably benign |
Het |
Or13a22 |
A |
G |
7: 140,072,751 (GRCm39) |
N67D |
probably damaging |
Het |
Or4c107 |
T |
C |
2: 88,788,885 (GRCm39) |
V25A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,589,647 (GRCm39) |
V649A |
unknown |
Het |
Pom121 |
A |
G |
5: 135,421,389 (GRCm39) |
|
probably benign |
Het |
Ptcd2 |
A |
T |
13: 99,466,521 (GRCm39) |
I224N |
possibly damaging |
Het |
Rsrp1 |
C |
T |
4: 134,651,290 (GRCm39) |
P18L |
unknown |
Het |
Sash1 |
A |
T |
10: 8,605,422 (GRCm39) |
N989K |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,546,219 (GRCm39) |
H927Q |
probably benign |
Het |
Selenoi |
G |
T |
5: 30,461,222 (GRCm39) |
V128F |
probably damaging |
Het |
Slc25a42 |
T |
C |
8: 70,642,092 (GRCm39) |
I117V |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,195,558 (GRCm39) |
|
probably benign |
Het |
Sptlc3 |
A |
T |
2: 139,431,615 (GRCm39) |
Y379F |
possibly damaging |
Het |
Tent4a |
A |
T |
13: 69,648,678 (GRCm39) |
S693T |
probably benign |
Het |
Tinag |
C |
T |
9: 76,952,885 (GRCm39) |
R33K |
probably benign |
Het |
Trappc8 |
T |
C |
18: 20,968,061 (GRCm39) |
D1092G |
probably benign |
Het |
Xntrpc |
A |
G |
7: 101,722,401 (GRCm39) |
E22G |
probably damaging |
Het |
Zbtb7b |
A |
G |
3: 89,287,278 (GRCm39) |
M397T |
possibly damaging |
Het |
Zgpat |
A |
G |
2: 181,020,682 (GRCm39) |
D285G |
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 |
IGL03376:Ikzf3
|
APN |
11 |
98,379,779 (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 |
2013-12-03 |