Incidental Mutation 'R0030:Ikzf3'
| ID |
64531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikzf3
|
| Ensembl Gene |
ENSMUSG00000018168 |
| Gene Name |
IKAROS family zinc finger 3 |
| Synonyms |
Zfpn1a3, 5830411O07Rik, Aiolos |
| MMRRC Submission |
038324-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0030 (G1)
|
| Quality Score |
82 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98355728-98436857 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98358438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 300
(T300A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103141]
|
| AlphaFold |
O08900 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103141
AA Change: T300A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099430
Gene: ENSMUSG00000018168
AA Change: T300A
| 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: ENSMUST00000153902
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,816,466 (GRCm39) |
Y755* |
probably null |
Het |
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Ank1 |
C |
A |
8: 23,583,909 (GRCm39) |
D337E |
probably damaging |
Het |
| Ankrd65 |
A |
C |
4: 155,875,942 (GRCm39) |
R72S |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,947 (GRCm39) |
S462P |
probably damaging |
Het |
| Dxo |
A |
G |
17: 35,056,914 (GRCm39) |
R132G |
probably damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
| Foxi2 |
A |
G |
7: 135,013,345 (GRCm39) |
T192A |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,296,034 (GRCm39) |
C480* |
probably null |
Het |
| Gak |
C |
T |
5: 108,761,413 (GRCm39) |
W206* |
probably null |
Het |
| Ggt7 |
G |
T |
2: 155,348,408 (GRCm39) |
D5E |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,400,651 (GRCm39) |
G339* |
probably null |
Het |
| Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
| Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,867 (GRCm39) |
M261K |
possibly damaging |
Het |
| Pax1 |
C |
A |
2: 147,210,502 (GRCm39) |
F412L |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,101,876 (GRCm39) |
I1006N |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,387,605 (GRCm39) |
V51A |
possibly damaging |
Het |
| Scn10a |
G |
C |
9: 119,499,056 (GRCm39) |
T304R |
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
G |
T |
4: 139,154,104 (GRCm39) |
V2104L |
probably damaging |
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 |
|
IGL03376:Ikzf3
|
APN |
11 |
98,379,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGACCTCGTTCAGAAGGCAAG -3'
(R):5'- AGTGTGCAGCAATCATAGCTTACCC -3'
Sequencing Primer
(F):5'- GATCCGTTTCTTTTCCATCTCCTG -3'
(R):5'- AGCAATCATAGCTTACCCTTCCC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation